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Letteratura scientifica selezionata sul tema "Brca1 gene mutations"

Autore: Grafiati

Pubblicato: 4 giugno 2021

Ultima modifica: 8 febbraio 2022

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Articoli di riviste sul tema "Brca1 gene mutations"

Maxwell, Kara Noelle, Daniel De Sloover, Lyndsey Emery, Bradley Wubbenhorst, Kurt P. D'Andrea, Jessica Long, Rebecca Mueller et al. "The mutational spectrum of breast and ovarian tumors from BRCA1 and BRCA2 mutation carriers." Journal of Clinical Oncology 31, n. 15_suppl (20 maggio 2013): 1510. http://dx.doi.org/10.1200/jco.2013.31.15_suppl.1510.

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1510 Background: Individuals who carry one mutated copy of the BRCA1 or BRCA2 genes have elevated lifetime risks of breast and ovarian cancer. A number of studies have investigated the somatic mutational spectra of breast and ovarian tumors; however, BRCA1/2mutated tumors are underrepresented. Methods: Sixty-eight formalin-fixed paraffin embedded samples from BRCA1/2patients have been identified. Massively parallel sequencing using 48 gene capture is in process, whole exome sequencing of tumor and matched germline DNA is planned. Data are analyzed using a custom bioinformatics pipeline. Results: In analysis of data from the first 26 breast (4 BRCA1, 6 BRCA2) and ovarian (8 BRCA1, 8 BRCA2) tumors, the majority (23/26, 88%) had 0-2 variants in 48 cancer genes. Known deleterious TP53 mutations were the only variants identified in 2/4 BRCA1 and 2/6 BRCA2 breast tumors. Of those remaining, 2 BRCA1 and 1 BRCA2 breast tumors had no identified deleterious mutations. Two BRCA2 breast tumors with no TP53 mutations had known deleterious mutations in a single gene each - FGFR2 and PI3KCA. One BRCA2 breast tumor with no TP53 mutation had a variant of uncertain significance in FLT3. Finally, one BRCA2 breast tumor had a very high mutational rate, with one deleterious TP53 mutation and 7 other small deletion and single nucleotide variants. For the ovarian tumors, 15/16 BRCA1 and BRCA2 tumors had known deleterious TP53 mutations; the ovarian tumor with no TP53 mutation had no other variants. TP53 mutations were the sole identified mutations in 8 ovarian tumors. One ovarian tumor carried a known JAK3 activating mutation and 4 ovarian tumors carried one variant of uncertain significance in a single gene - SMO, PDGFRA, GNA11 and NRAS. Finally, two ovarian tumors were found to have high mutational rates. Conclusions: Using a targeted resequencing panel, we confirmed the high rate of TP53 mutations in BRCA1/2 breast tumors and observed a higher than expected rate in BRCA1/2 ovarian tumors. Importantly, we have identified mutations in other known driver genes using FFPE samples, allowing generalizability to other sites. These analyses may uncover novel mutations that could be exploited in the development of targeted therapeutic agents for BRCA1/2 carriers.

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Wafa, T. "Contribution of BRCA1 and BRCA2 mutations to breast cancer in Tunisia". Journal of Clinical Oncology 27, n. 15_suppl (20 maggio 2009): e22191-e22191. http://dx.doi.org/10.1200/jco.2009.27.15_suppl.e22191.

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e22191 Background: Hereditary breast cancer accounts for 3–8% of all breast cancers. It was recently estimated that a combination of BRCA1 and BRCA2 genes mutations is responsible for 30% of hereditary breast cancer cases. Methods: To investigate the prevalence of BRCA1 and BRCA2 gene mutations in breast cancer patients with affected relatives in Tunisia, 36 patients who had at least one first degree relative affected with breast and/or ovarian cancer were analysed. Thirty three patients are suggestive of BRCA1 mutation and 3 are suggestive of BRCA2 mutation. Results: Four mutations in BRCA1 gene were described among which, one novel splice site mutation (330 dupA) and 3 frameshift mutations including the 4160 delAG, the 2789 delG and the 5385 insC. Our study is the first to describe the 5385 insC mutation which was described only among Jewish Ashkenazi population. Two frameshift mutations (1537 del4 and 5909 insA) were screened in BRCA2 gene. Nineteen percent (7/36) of the familial cases were altered on BRCA1 or BRCA2 genes with deleterious mutations at heterozygous state and 55% (20/36) by mutation with uncertain value (UV) or by single nucleotide polymorphisms (SNPs). Conclusions: Almost all the cases mutated by deleterious mutations on BRCA1 gene reported a family history of breast and/or ovarian cancer in the index case or in their relatives. On the contrary, patients with an UV mutation or SNPs have no history of ovarian cancer in their corresponding families. Our data are the first to contribute to information on mutation spectrum of BRCA genes and offer a recommended screening mode for clinical genetic testing policy in Tunisia. No significant financial relationships to disclose.

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Chen, Jian, Zhaohua Gong, Dengjun Sun, Shujie Song, Weiwei Zhang, Ningning Luo, Qin Zhang, Guanghua Lu, Yingxue Qi e Yaqing Wu. "The real-world BRCA1/2 germline mutations in Chinese solid tumors." Journal of Clinical Oncology 39, n. 15_suppl (20 maggio 2021): e22500-e22500. http://dx.doi.org/10.1200/jco.2021.39.15_suppl.e22500.

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e22500 Background: Breast cancer susceptibility genes BRCA1 and 2 are tumor suppressor genes and they play an important role in DNA damage response and repair during homologous recombination. Hereditary breast and ovarian cancer (HBOC) syndrome is an autosomal dominant disease due to BRCA1 and 2 germline mutation. Germline mutations of BRCA1 and 2 genes significantly increase the risk of developing breast cancer, ovarian cancer, prostate cancer and a broad range of cancers. PARP inhibitor (PARPi) monotherapy and combinations have shown promising efficacy against a variety of cancer types with BRCA mutations. Nevertheless, the knowledge of incidence of BRCA1 and 2 germline mutations in solid tumor remains poorly understood. Herein, next generation sequencing of 539-gene profiling was performed to explore the incidence of BRCA1 and 2 germline mutations in Chinese solid tumors. Methods: We retrospectively analyzed the BRCA1 and BRCA2 germline mutations from a comprehensive 539-gene profiling of 8535 Chinese patients with pan-cancer. 539-gene profiling contains the somatic mutations in tumor tissue or blood ctDNA and the germline mutations in blood leukocyte. We screened out the pathogenic and likely pathogenic mutations in BRCA germline mutations, and calculated the mutation frequency and the median age in every cancer type. Results: In 8535 patients with pan-cancer, 110 patients were found pathogenic or likely pathogenic germline mutations in BRCA gene and the mutation frequency was 1.29%, of which 40 BRCA1 mutations and 70 BRCA2 mutations were found in patients, respectively. The total median age was 58.15. Eliminated a few types of cancers that had a smaller number (less than 50), the higher frequency of mutations contained ovarian cancer (14.78%, media age 58), prostatic cancer (6%, media age 58.33), breast cancer (5.2% media age 57.33). The details of the top 8 cancer types with mutation frequency and media age were shown in Table. Conclusions: This was the first report of the incidence of BRCA1 and 2 germline mutations in Chinese solid tumors, which expanded the understanding of BRCA1/2 and provided a direction for clinical trial design of PARPi monotherapy and combinations.[Table: see text]

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Brankovic-Magic, Mirjana, Jelena Dobricic, Radmila Jankovic, Irene Konstantopoulou, Drakoulis Yannoukakos e Sinisa Radulovic. "Identifying and testing for hereditary susceptibility to breast/ovarian cancer in Serbia: Where are we now?" Archive of Oncology 14, n. 3-4 (2006): 131–35. http://dx.doi.org/10.2298/aoo0604131b.

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About 90% of all breast cancers can be considered as sporadic, without inherited gene alteration. The rest of breast cancers (about 5 to 10%) are considered hereditary, most commonly caused by alterations of BRCA1/2 tumor suppressor genes. Lifetime risks for breast and ovarian cancers are increased among BRCA1/2 mutation carriers - 4 to 8 and 10 to 20 fold higher respectively. Due to the small proportion of hereditary form of disease, as well as to the high cost, BRCA testing is not screening test for general population. It is addressed to selected part of population that fit to recommended criteria. Full coding region sequencing of both genes is "gold standard" for detection of BRCA mutation. Concerning BRCA testing in Serbia, complete or partial sequencing of BRCA1/2 coding region was performed in 60 samples. The presence of 4 BRCA1 known mutations, previously detected elsewhere, has been shown: 185delAG, C61G, 3447del4 and 5382insC (detected twice). In BRCA1 gene, exon 16, an unclassified variant M1652I was found. Polymorphic variants in BRCA1 (8 polymorphisms) and BRCA2 (5 polymorphisms) genes were also detected. The majority of found BRCA1 and BRCA2 polymorphic variants are the missense ones and their influence on breast/ovarian cancer risk in our population has to be proved. Identification of BRCA mutations carriers and establishment of spectra and frequency of BRCA mutations should enable introduction of BRCA1/2 testing into the clinical practice of Serbia. .

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Oh, Mok, Ali McBride, Seongseok Yun, Sandipan Bhattacharjee, Marion Slack, Joanne M. Jeter e Ivo Abraham. "BRCA1 and BRCA2 gene mutations and colorectal cancer risk: Systematic review and meta-analysis." Journal of Clinical Oncology 36, n. 4_suppl (1 febbraio 2018): 605. http://dx.doi.org/10.1200/jco.2018.36.4_suppl.605.

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605 Background: The risks of breast and ovarian cancer associated with BRCA1 and BRCA2 mutations are well established. Investigations of the association of BRCA mutations and the risk of colorectal cancer(CRC) have yielded conflicting results. We performed a systematic review of published and unpublished studies evaluating BRCA and CRC risk, and meta-analyses to quantify overall CRC risk and in subgroups of BRCA mutation carriers. Methods: Eligible studies were retrieved from PubMed/MEDLINE, Embase, Cochrane, Scopus, and ProQuest Dissertation & Theses. Unadjusted odds ratios were used to derive pooled estimates of CRC risk overall (combined BRCA1/BRCA2) and in subgroups defined by mutation type, comparison group, and study design. Both fixed and random effects models were estimated with the latter having priority. We followed the guidelines summarized in the Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) as well as the Meta-analysis of Observational Studies in Epidemiology (MOOSE) statements. Results: A total of 18 studies were included in the systematic review: 7 cohort studies comparing to the general population, 5 case-control studies, 4 cohort studies involving pedigree analysis, and 2 kin-cohort studies. Fourteen studies included in the systematic review were used in the meta-analysis. The overall BRCA1/BRCA2 meta-analysis revealed an increased CRC risk in a fixed-effects (OR = 1.22, 95%CI = 1.01-1.48, p = 0.041, I2= 19.5%) but not in a random-effects model (OR = 1.20, 95%CI = 0.96-1.50, p = 0.111). In subgroup random-effects meta-analyses, BRCA1 was associated with increased CRC risk (OR = 1.48, 95%CI = 1.13-1.94, p = 0.005, I2= 3.7%) but BRCA2 was not. Analyses stratified by study design and comparator found no association between BRCA mutation and CRC risk (all 95%CIs crossing 1, all p > 0.05). Conclusions: Although studies differed in their findings about the association between BRCA mutations and CRC risk, meta-analyses revealed a potential 1.22-fold greater risk of CRC in BRCA mutation carriers. This elevated CRC risk was attributable largely to a 1.48-fold greater risk in BRCA1 mutation but not in BRCA2 carriers, regardless of age.

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Abulkhair, Omalkhair, Mohammed Al Balwi, Ola Makram, Lamia Alsubaie, Medhat Faris, Hussam Shehata, Ahmed Hashim, Banu Arun, Ahmed Saadeddin e Ezzeldin Ibrahim. "Prevalence of BRCA1 and BRCA2 Mutations Among High-Risk Saudi Patients With Breast Cancer". Journal of Global Oncology, n. 4 (dicembre 2018): JGO.18.00066. http://dx.doi.org/10.1200/jgo.18.00066.

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Purpose Over the past three decades, the incidence rate of breast cancer (BC) among Arab women has continually increased. However, data on the prevalence of BRCA1/2 mutations are scarce. Although the population in Saudi Arabia is at large homogeneous and consanguinity is common, especially in the central, eastern, and southern regions of the country, the prevalence of BRCA1 and BRCA2 mutations and the characteristics of BC are not well studied in the country. Methods This prospective observational study intended to determine the prevalence of BRCA1 and BRCA2 mutations and sought to examine the clinicopathologic features of BC associated with these mutations. Results Of 310 patients, 270 (87%) had no mutation. BRCA mutations were identified in 40 patients; BRCA1 mutations were found in 11% of patients, and BRCA2 mutations were found in 2% of patients. Variants of unknown significance were found in 15% of patients (45 patients). Triple-negative BC (TNBC) accounted for 86% of all patients with BC and mutations. The following three recurrent deleterious founder BRCA1 mutations were observed: c.4136_4137delCT was observed in five unrelated patients, c.5530delC was observed in three unrelated patients, and c.4524G>A mutations were observed in five unrelated patients. One novel mutation was identified in the BRCA1 gene (c.5512 dup [p.Glu1838Glyfs*42]). Conclusion Among high-risk Saudi patients with BC, BRCA1 mutations are prevalent (11%). TNBC is the most common BC subtype. Furthermore, age alone does not have a significant association with mutation, but a combination of risk factors such as age, familial history, and TNBC has a significant association with BRCA mutation.

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Graeser, Monika K., Christoph Engel, Kerstin Rhiem, Dorothea Gadzicki, Ulrich Bick, Karin Kast, Ursula G. Froster et al. "Contralateral Breast Cancer Risk in BRCA1 and BRCA2 Mutation Carriers". Journal of Clinical Oncology 27, n. 35 (10 dicembre 2009): 5887–92. http://dx.doi.org/10.1200/jco.2008.19.9430.

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Purpose To estimate the risk for contralateral breast cancer in members of BRCA1- and BRCA2-positive families and to determine predictive risk factors. Patients and Methods A retrospective, multicenter, cohort study was performed from 1996 until 2008 and comprised 2,020 women with unilateral breast cancer (index patients, n = 978; relatives, n = 1.42) from 978 families who had a BRCA1 or BRCA2 mutation. Cox regression analysis was applied to assess the association of age at first breast cancer with time from first to contralateral breast cancer, stratified by the affected BRCA gene. Results The cumulative risk for contralateral breast cancer 25 years after first breast cancer was 47.4% (95% CI, 38.8% to 56.0%) for patients from families with BRCA1 or BRCA2 mutations. Members of families with BRCA1 mutations had a 1.6-fold (95% CI, 1.2-fold to 2.3-fold) higher risk of contralateral breast cancer than members of families with BRCA2 mutations. Younger age at first breast cancer was associated with a significantly higher risk of contralateral breast cancer in patients with BRCA1 mutation, and a trend was observed in patients with BRCA2 mutation. After 25 years, 62.9% (95% CI, 50.4% to 75.4%) of patients with BRCA1 mutation who were younger than 40 years of age at first breast cancer developed contralateral breast cancer, compared with only 19.6% (95% CI, 5.3% to 33.9%) of those who were older than 50 years of age at first breast cancer. Conclusion Contralateral breast cancer risk depends on age at first breast cancer and on the affected BRCA gene, and this risk should be considered in treatment planning.

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Hennessy, B., K. Timms, M. S. Carey, A. Gutin, R. Broaddus, A. Gonzalez-Angulo, J. Lanchbury, K. Lu e G. B. Mills. "Somatic BRCA status in ovarian tumors". Journal of Clinical Oncology 27, n. 15_suppl (20 maggio 2009): 5528. http://dx.doi.org/10.1200/jco.2009.27.15_suppl.5528.

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5528 Background: The combined prevalence of BRCA1/2 mutations in germline DNA derived from a population of invasive ovarian cancer patients is up to 15.3%. PARP inhibitor trials are ongoing in patients who carry germline BRCA1/2 mutations. It is important to know whether somatic (non-germline) BRCA changes are present in ovarian tumors, given the predicted sensitivity of BRCA mutation-carrying tumors to PARP inhibitors and other DNA damaging agents. However, a large cohort of ovarian tumor tissues has not been studied to determine the frequency of BRCA deficiency due to additional somatic changes. Methods: BRCA1/2 exons/flanking regions were sequenced in 235 high-grade ovarian cancers and 38 ovarian cancer cell lines. In 112 tumors, we also performed gene expression analysis and copy number arrays with ultradense probe tiling throughout both BRCA genes. Results: For BRCA1, 31 tumors (13.2%) harbored mutations: 23 known deleterious mutations, 1 suspected deleterious mutation, 3 novel indels, 1 novel mis-sense and 3 novel nonsense mutations. For BRCA2, 12/178 sequenced tumors (6.7%) harbored mutations: 8 known deleterious mutations, 1 suspected deleterious mutation and 3 novel indels. Only 3 BRCA1 mutations were detected in 2 cell lines, two known deleterious and 1 a novel 29 base pair deletion. One cell line thus appears to have both a germline and a somatic mutation. BRCA mutation status was associated with a trend to improved progression-free survival (PFS) in univariate analysis (p = 0.17). However, BRCA deficiency (defined by BRCA1/2 gene expression loss (4 tumors) and homozygous deletion (1 tumor) in addition to mutations) was associated with improved PFS in univariate (p = 0.04) and multivariate (p = 0.03) analyses. Conclusions: The frequency of BRCA1/2 mutations in ovarian tumors detected by sequencing regardless of family history is ≈20%, higher than the expected prevalence of germline mutations. In both BRCA1/2 genes, almost 25% of mutations in tumor tissue were novel and not previously seen in germline DNA. We are now sequencing corresponding germline DNA to determine the exact number of these novel mutations that are somatic. Direct analysis of ovarian tumor tissue is likely to expand the number of women with BRCA-deficient tumors beyond that detectable by germline sequencing. [Table: see text]

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Sekine, Masayuki, Koji Nishino e Takayuki Enomoto. "Differences in Ovarian and Other Cancers Risks by Population and BRCA Mutation Location". Genes 12, n. 7 (8 luglio 2021): 1050. http://dx.doi.org/10.3390/genes12071050.

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Hereditary breast and ovarian cancer is caused by a germline mutation in BRCA1 or BRCA2 genes. The frequency of germline BRCA1/2 gene mutation carriers and the ratio of germline BRCA1 to BRCA2 mutations in BRCA-related cancer patients vary depending on the population. Genotype and phenotype correlations have been reported in BRCA mutant families, however, the correlations are rarely used for individual risk assessment and management. BRCA genetic testing has become a companion diagnostic for PARP inhibitors, and the number of families with germline BRCA mutation identified is growing rapidly. Therefore, it is expected that analysis of the risk of developing cancer will be possible in a large number of BRCA mutant carriers, and there is a possibility that personal and precision medicine for the carriers with specific common founder mutations will be realized. In this review, we investigated the association of ovarian cancer risk and BRCA mutation location, and differences of other BRCA-related cancer risks by BRCA1/2 mutation, and furthermore, we discussed the difference in the prevalence of germline BRCA mutation in ovarian cancer patients. As a result, although there are various discussions, there appear to be differences in ovarian cancer risk by population and BRCA mutation location. If it becomes possible to estimate the risk of developing BRCA-related cancer for each BRCA mutation type, the age at risk-reducing salpingo-oophorectomy can be determined individually. The decision would bring great benefits to young women with germline BRCA mutations.

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Kwong, A., L. Wong, C. Wong, F. Law, E. Tang, W. Chan, E. S. Ma, J. M. Ford e D. W. West. "Clinical and pathological characteristics of Chinese patients with BRCA related breast cancer". Journal of Clinical Oncology 27, n. 15_suppl (20 maggio 2009): e22226-e22226. http://dx.doi.org/10.1200/jco.2009.27.15_suppl.e22226.

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e22226 Background: Breast cancers due to underlying germline BRCA1 and BRCA2 mutations are associated with particular pathological features that may differ from sporadic breast cancers. We report clinical and pathologic characteristics of breast cancer in a clinical cohort of high risk Chinese women with BRCA mutations and those without mutations. Methods: 202 high risk women based on their age and family history were recruited from March 2007 to November 2008. Medical information was prospectively collected from the patients and medical records. BRCA1 and BRCA2 mutations were detected using full gene sequencing and multiplex ligation-dependent probe amplification (MLPA). Results: Of the 202 female probands tested, 25 (12.3 %) were BRCA mutation carriers of which 11 (44%) were BRCA1 and 14 (56%) were BRCA2 mutations. Breast cancer risk factors, other than family history, did not differ between carriers and non-carriers. Mutation carriers were more likely to have a familial history of breast cancer (p=0.07) and personal and family history of ovarian cancer (p=0.005; p=0.007). Other cancers found in carriers families included pancreatic, gastric, colon, lung, liver, and nasopharyngeal. 23% of women diagnosed with DCIS had BRCA mutations compared with 11.4% of those with invasive cancers. BRCA related tumors were more likely to be ER, PR and Her-2 negative (Triple negative, TN) (p= 0.006). Overall 9.6% of non-BRCA cancers were TN whereas 25.9% of BRCA cancers were TN. Prevalence of TN in BRCA1 carriers is 71% compared with 13.4% in BRCA2 carriers. BRCA1 mutation related cancers were significantly more likely to be ER negative than BRCA2 and this is only significant in those who are under 40 years of age (p=0.070). Conclusions: We have a high BRCA2 mutation rate in our cohort. BRCA related breast cancer is associated with families with increasing number of first degree relatives with breast and/or ovarian cancers and were higher for DCIS cancers. Prevalence of TN breast cancers was high compared to Caucasian cohorts. BRCA mutations were associated with pathologically, poor prognostic features (TN and high grade) especially in younger women. No significant financial relationships to disclose.

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Più fonti

Tesi sul tema "Brca1 gene mutations"

Oh, Yeum Mok, e Yeum Mok Oh. "BRCA1 and BRCA2 Gene Mutations in Colorectal Cancer: A Systematic Review and Meta-Analysis". Thesis, The University of Arizona, 2017. http://hdl.handle.net/10150/625685.

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Background: The relevant risks associated with BRCA1 and BRCA2 mutation in breast and ovarian cancer have been well studied. BRCA mutations have also been found to be associated with other cancers, including colorectal cancer, but with conflicting results. Aims: We performed a systematic review and meta-analysis to identify, characterize, and review published studies evaluating BRCA mutation carriers with colorectal cancer, and to quantify the risk of colorectal cancer overall and in subgroups of BRCA mutation carriers. Methods: Eligible studies were retrieved through systematic review using multiple databases. Unadjusted odds ratios were used to derive pooled estimates of colorectal cancer risk overall and in subgroups defined by mutation type, comparison group, and study design. Results: A total of 18 studies were included in the systematic review, of which 14 were also used in the meta-analysis: seven cohort studies comparing to the general population, five case-control studies, four cohort studies involving pedigree analysis, and two kin-cohort studies. Meta-analysis not differentiating between BRCA1 and BRCA2, revealed a statistically significant increased risk of colorectal cancer in BRCA mutation carriers in a fixed-effects model (OR=1.22, 95%CI=1.01-1.48, p=0.041), but not in a random-effects model (OR=1.20, 95%CI=0.96-1.50, p=0.111). Analyses stratified by study design and comparator found no association between BRCA mutation and colorectal cancer risk. In subgroup meta-analyses by BRCA type, BRCA1 mutation was associated with increased risk of colorectal cancer (OR=1.48, 95%CI=1.13-1.94, p=0.005), but not in BRCA2 mutation. Conclusion: Systematic review and meta-analysis point at potential 1.22-fold greater risk of colorectal cancer in BRCA mutation carriers, attributable largely to a 1.48-fold greater risk of colorectal cancer in BRCA1 mutation carriers, regardless of age.

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King, Heidi M. "Risk reduction decision making in women with BRCA1/2 gene mutations". [Tampa, Fla] : University of South Florida, 2008. http://purl.fcla.edu/usf/dc/et/SFE0002506.

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King, Heidi M. "Risk Reduction Decision Making in Women with BRCA1/2 Gene Mutations". Scholar Commons, 2007. https://scholarcommons.usf.edu/etd/334.

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With technological advances in testing for gene mutations, a new population of BRCA1/2 women is becoming aware of their increased risk for developing breast and/or ovarian cancer. A salient issue these women face is which risk-reducing option to choose. Little is known about the decision making factors underlying the choice of prophylactic mastectomy for women with a BRCA1/2 mutation. To address this issue, 137 unaffected, positive BRCA1/2 gene mutation carriers (42 who opted for prophylactic mastectomy, 95 who did not) served as participants. All women completed an on-line battery that assessed the following theory-based decision making variables: advantages and disadvantages of prophylactic mastectomy (normative decision theory), physician recommendation (shared decision making theory), cancer worry (affect theory), and information-seeking coping style. With the exception of information-seeking style (p = .8715), the decision making variables of advantages and disadvantages of prophylactic mastectomy, physician input, and cancer worry did have a significant relationship with risk-reduction option chosen. Women who rated the advantages higher than the disadvantages of prophylactic mastectomy (r = .31, p ≤ .001), whose physician had recommended prophylactic mastectomy exclusively (X² = 11.85; p < .001), and who reported higher cancer worry scores a month after receiving BRCA1/2 positive results (r = .28, p ≤ .001) were more likely to have chosen prophylactic mastectomy. The perceived impact (conflict, regret, cancer worry, and general well-being) of risk-reducing option selected was also explored. The direction of these relationships indicates that having chosen prophylactic mastectomy was associated with less decisional conflict (r = -.38, p ≤ .0001), decisional regret (r = -.58, p ≤ .0001), depressive symptomatology (r = -.19, p ≤ .05), and cancer worry (r = -.39, p ≤ .0001). The results suggest higher assessments of advantages over disadvantages of prophylactic mastectomy, doctor recommendation for prophylactic mastectomy exclusively, and higher cancer worry at time of testing is associated with choosing the risk-reducing option of prophylactic mastectomy. In addition, women who chose prophylactic mastectomy fared better psychologically than those who did not. Continued research addressing decision making variables and the impact of risk-reducing decisions may lead to improved understanding on how best to approach these difficult decisions.

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Puget, Nadine. "Prédisposition génétique au cancer du sein : recherche de mutations dans les régions régulatrices et de réarrangements structuraux du gène BRCA1". Lyon 1, 1999. http://www.theses.fr/1999LYO1T093.

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Heinlen, Christopher Charles. "Provider Perceived Clinical Utility of Enhanced Risk Assessments for Carriers of Pathogenic BRCA1/2 gene mutations". The Ohio State University, 2017. http://rave.ohiolink.edu/etdc/view?acc_num=osu1491994043693414.

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Cury, Nathália Moreno. "Investigação de Mutações no Gene BRCA1 em Famílias Brasileiras com Suspeita da Síndrome Hereditária do Câncer de Mama e/ou Ovário". Universidade de São Paulo, 2012. http://www.teses.usp.br/teses/disponiveis/17/17135/tde-14062012-134410/.

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Cerca de 10% dos casos de câncer de mama e/ou ovário são caracterizados como hereditários, onde a presença de mutações germinativas no gene de suscetibilidade BRCA1 aumenta o risco de desenvolver esses cânceres durante a vida da mulher. O BRCA1 é um gene supressor tumoral envolvido na resposta de danos ao DNA, controle do ciclo celular, na remodelação da cromatina, ubiquitinação e regulação da transcrição. O presente estudo tem como objetivo central caracterizar as mutações do gene BRCA1 associadas a Síndrome Hereditária do Câncer de Mama e/ou Ovário (HBOC) em pacientes atendidos no Serviço de Aconselhamento Genético do Câncer do Hospital das Clínicas da Faculdade de Medicina de Ribeirão Preto da Universidade de São Paulo (HCFMRP/USP). Os vinte e dois éxons codificantes do BRCA1 foram analisados utilizando o método de High Resolution Melting (HRM) para triagem de mutações pontuais, seguido pelo sequenciamento de DNA dos casos selecionados para validação. A técnica de MLPA (Multiplex Ligation-dependent Probe Amplification) também foi usada para detectar grandes deleções e duplicações. Uma vez confirmada a mutação, membros da família considerados de alto risco, serão investigados para a mutação específica, a fim de proporcionar-lhes um aconselhamento genético apropriado para a detecção precoce do câncer. No presente estudo, foram investigados 41 pacientes que preencheram os critérios para o teste genético de acordo com NCCN Clinical Practice Guidelines in Oncology v.1.2010. Um total de 21 mutações foram identificadas, duas das quais são patogênicas: a deleção dos éxons 17-18 e a deleção dos éxon 19. Ambas estão localizadas no domínio BRCT do gene BRCA1, essencial para a ligação de fosfoproteínas críticas para a ativação do complexo de reparo do DNA. Outra mutação, a S616del, foi tratada como patogênica, mas apresenta informações controversas em diferentes estudos. O trabalho também identificou uma nova mutação, Val1117Ile. Um estudo de haplótipos das mutações identificadas nos pacientes foi realizado e revelou que um dos haplótipos, denominado de 6, contendo quatro resíduos mutados (871Leu, 1038Gly, 1183Arg e 1613Gly) estava presente em 50% das pacientes. O estudo de associação com 82 indivíduos saudáveis, mostrou diferença significativa (p=0,026) nos pacientes, sugerindo assim um risco aumentado de HBOC. Adicionalmente, foi analisada a mutação germinativa R337H no gene p53 para os casos suspeitos de Síndrome de Li-Fraumeni. Em síntese, o presente estudo contribui com a identificação de uma nova mutação não-sinônina no gene BRCA1 e sugere que o haplótipo 871Leu-1038Gly-1183Arg-1613Gly possa conferir risco aumentado do câncer de mama e/ou ovário em pacientes diagnosticados com HBOC.
About 10% of cases of breast and/or ovary cancer are characterized as hereditary, where the presence of germline mutations in susceptibility BRCA1 gene increases the risk of developing these cancers during womans lifetime. BRCA1 is a tumor suppressor gene involved in DNA damage response, cell cycle control, chromatin remodeling, ubiquitination and transcriptional regulation. The present study aims to characterize BRCA1 gene mutations associated with Hereditary Breast/Ovary Cancer Syndrome (HBOC) in patients from the Cancer Genetic Counseling Service of the General Hospital of the Medical School of Ribeirão Preto, University of São Paulo (HCFMRP-USP). The twenty two coding exons of BRCA1 were analyzed using High Resolution Melting (HRM) method for the screening of point mutations, followed by DNA sequencing of the cases selected to validation. MLPA (Multiplex Ligation-dependent Probe Amplification) technique was also used to detect gross deletions and duplications. Once confirmed the mutation, family members most at risk will be analyzed for the specific mutation in order to provide them with an appropriate genetic counseling for early detection of cancer. In the present study, we investigated 41 patients that fulfilled the criteria for genetic testing according to NCCN Clinical Practice Guidelines in Oncology v.1.2010. A total of 21 mutations were identified, two of them are pathogenic: a deletion of exons 17-18 and a deletion of exon 19. Both of them are located in the BRCT domain of BRCA1 gene, impairing the binding of essential phosphoproteins critical to the activation of DNA repair complex. Another mutation, S616del, shows controversial information about its pathogenesis in different studies.The present study also describes a new mutation, Val1117Ile. A study of haplotypes of the mutations identified in patients was performed and revealed that one of the haplotypes, called 6, containing four mutated residues (871Leu, 1038Gly, and 1183Arg 1613Gly) was present in 50% of patients. The association study with 82 healthy subjects showed a significant difference (p = 0.026) in patients, thus suggesting an increased risk for HBOC. Additionally, the germline mutation R337H on p53 gene was also analyzed in the present study for suspected cases of Li-Fraumeni Syndrome. In summary, this study contributes to the identification of a new missense mutation in the BRCA1 gene and suggests that the haplotype-871Leu-1038Gly 1183Arg-1613Gly may confer increased risk of breast cancer and / or ovarian cancer in patients diagnosed with HBOC.

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Bachelier, Richard. "Expression et localisation subcellulaire des protéines murines BRCA1 et BRCA1-Δ11 : étude du rôle du gène BRCA1 et des effets de ses mutations sur la morphogénèse et la cancérogénèse de la glande mammaire et de la prostate chez la souris". Lyon 1, 2000. http://www.theses.fr/2000LYO1T014.

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Dillenburg, Crisle Vignol. "Incidência das mutações 185delAG e 5382insC no gene BRCA1 em mulheres judias Ashkenazi de Porto Alegre". reponame:Biblioteca Digital de Teses e Dissertações da UFRGS, 2008. http://hdl.handle.net/10183/13534.

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Base Teórica: O câncer de mama é provavelmente o mais temido pelas mulheres devido a sua alta freqüência e, sobretudo, pelos seus efeitos psicológicos que afetam a percepção da sexualidade e a própria imagem pessoal. Ele é relativamente raro antes dos 35 anos de idade, mas acima desta faixa etária sua incidência cresce rápida e progressivamente. Estudos indicam que fatores genéticos e ambientais são responsáveis pela incidência do câncer de mama, sendo que a hereditariedade provavelmente tenha participação restrita no desenvolvimento deste tipo de tumor. Os principais genes associados ao desenvolvimento do câncer de mama, BRCA1 e BRCA2, são responsáveis por cerca de 80% desses casos, conferindo um risco de 71 a 85% de chance de desenvolver a neoplasia em alguma fase da vida. Mutações nesses genes, classificados como supressores tumorais, demonstram que a perda de suas funções não pára o ciclo celular, não permite a ação do sistema de reparo, e não estimula a apoptose (morte celular programada), culminando em replicação anormal e câncer. A observação epidemiológica de que mulheres judias de origem Ashkenazi parecem ser mais vulneráveis ao câncer de mama está sendo explicada através de estudos moleculares dos genes BRCA1 e BRCA2, onde encontramos a prevalência de três mutações específicas: 185delAG e 5382insC, no gene BRCA1 e 6174delT, no gene BRCA2. Métodos: Utilizou-se um banco de DNA pré-existente, extraído de 209 mulheres da comunidade judaica Ashkenazi da cidade de Porto Alegre. A amplificação do DNA foi realizada por PCR, através da técnica PSM (PCR Mediated site-direct) seguida de digestão dos produtos de PCR com enzimas de restrição. Os objetivos foram verificar se as freqüências das mutações 185delAG e 5382insC, no gene BRCA1 são significativas nesta população e compará-las com demais freqüências encontradas. Resultados: Foram encontradas três pacientes com a mutação 185delAG e duas pacientes com a mutação 5382insC, com as freqüências de 1,435% (95% IC: 0,366; 3,856) e 0,957% (95% IC: 0,161; 3,125), respectivamente.
Introduction: Breast cancer is probably the worst diagnosed cancer for women due to its high frequency and furthermore by its psychological problems that affect the perception of sexuality and the self image. It is relatively rare before 35 years of age, but beyond this age its incidence increases rapidly and progressively. Studies show that genetic and environmental factors are responsible for breast cancer incidence, but heredity may play a restrict role in the development of this kind of tumor. The main genes associated to the development of breast cancer, BRCA1 and BRCA2, are responsible for almost 80% of these cases, reaching a chance between 71 and 85% of developing the disease at any life stage. Mutations in these genes, classified as tumor suppressors, do not allow the repair mechanisms of DNA to perform its action and do not stimulate apoptosis, culminating in abnormal replication and cancer. The epidemiological observation in which Ashkenazi Jewish women seems to be more vulnerable to breast cancer is explained through molecular studies of BRCA1 and BRCA2 genes, where three specific mutations have been found (185delAG and 5382insC, in the BRCA1 gene and 6174delT, in the BRCA2 gene). Methods: A pre-existent bank of DNA extracted from 209 women of the Ashkenazi Jewish community of Porto Alegre city has been used. The DNA amplification was performed through PCR, using the PSM (PCR Mediated Site-Direct) technique followed by the digestion of PCR products with restriction enzymes. The objectives of this study was to identify the frequencies of mutations 185delAG and 5382insC at the BRCA1 gene and verify if they are significantly different in this population when compared to frequencies found in other studies. Results: We found three patients with 185delAG mutation and two patients with 5382insC mutation, with frequencies of 1.435% (95% CI: 0,366; 3,856) and 0,957% (95% IC: 0,161; 3,125), respectively.

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Mavaddat, Nasim. "Risk modelling in BRCA1 and BRCA2 mutation carriers". Thesis, University of Cambridge, 2012. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.610839.

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Gedminaitė, Jurgita. "Krūties vėžiu sergančių moterų BRCA1, BRCA2, CHEK2 ir NBS1 genų mutacijų tyrimas ir jų ryšio su kitais prognoziniais veiksniais paieška". Doctoral thesis, Lithuanian Academic Libraries Network (LABT), 2013. http://vddb.laba.lt/obj/LT-eLABa-0001:E.02~2013~D_20130919_143947-94587.

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Apie 5–10 proc. visų krūties navikų atvejų sudaro paveldimas vėžys. BRCA1 ir BRCA2 genai yra patys svarbiausi polinkį susirgti krūties vėžiu sąlygojantys genai. Kiti reikšmingai su padidėjusia krūties navikų išsivystymo rizika susiję – CHEK2 ir NBS1 genai. Šiame darbe ištirtos paveldimos dažniausiai Europos regione nustatomos šių genų mutacijos. Nustatytas BRCA1 ir CHEK2 genų mutacijų dažnis tarp jaunų krūties vėžiu susirgusių moterų, ištyrinėtos jų sąsajos su pacientės amžiumi, naviko klinikinėmis ir morfologinėmis savybėmis. Išanalizuota šeiminės anamnezės prognozinė vertė nustatant paveldimus BRCA1 ir CHEK2 genų pokyčius. Pirmą kartą Lietuvoje įsisavintas CHEK2 bei NBS1 genų tyrimas, nustatyta, kokios CHEK2 geno mutacijos dažniausios. Nors NBS1 geno mutacijų nerasta, bet įsisavinta metodika, kuri bus panaudota ateities tyrimams. Sukurtas kompleksinis BRCA1 bei CHEK2 genų mutacijų radimo prognozavimo modelis. Šiandien klinikinėje praktikoje panašūs modeliai naudojami įvertinti BRCA1/2 genų mutacijų tikimybę. Jų pritaikomumas ir specifiškumas skirtingose etninėse grupėse gali skirtis. Naudojant tirtų pacienčių charakteristikas, įtraukiant ne tik šeiminę anamnezę, pacientės ypatybes, bet ir klinikinius bei molekulinius navikų požymius, sukurti mūsų regionui pritaikyti modeliai bei nustatyti kriterijai, kurie padės atrinkti pacientes genetiniam konsultavimui dėl BRCA1 bei CHEK2 genų mutacijų. Šis naujas požiūris turi didžiulę praktinę naudą.
Approximately 5–10% of all breast cancer cases are considered to be hereditary. BRCA1 and BRCA2 genes are the most important breast cancer predisposing genes. Other genes significantly linked with an increased risk of breast tumors are CHEK2 and NBS1 gene. In this scientific work were studied the most prevalent in European region mutations of these genes. The rate of BRCA1 and CHEK2 gene mutations in young women with breast cancer was evaluated and the relationships between these mutations and patient's age, clinical and morphological tumor features are examined. The prognostic value of family history was analyzed when forecasting hereditary BRCA1 and CHEK2 gene mutations. For the first time in Lithuania the CHEK2, NBS1 genes tests were applied and the evaluation of which CHEK2 gene mutations are most prevalent was obtained. Although NBS1 gene mutations were not found, but applied test technique will be used in future research. There was created a prognostic model for determination of BRCA1 and CHEK2 gene mutations. In today's clinical practice similar models are used to assess the likelihood of the BRCA1/2 mutation. Their applicability and specificity in different ethnic groups may vary. Applying the studied data there was created a model adapted to our region. Testing patients, there were considered not only family medical history and personal characteristics, but also the clinical and molecular features of tumors. The criteria have been found which will help in selecting... [to full text]

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Più fonti

Capitoli di libri sul tema "Brca1 gene mutations"

Huo, Zhimin, Maryellen L. Giger, Funmi I. Olopade, Dulcy E. Wolverton, Shelly Cummings, Weiming Zhong e Kunio Doi. "Computerized Analysis of Digitized Mammograms of Women with Low Breast Cancer Risk and of BRCA1/BRCA2 Gene-Mutation Carriers". In Computational Imaging and Vision, 419–22. Dordrecht: Springer Netherlands, 1998. http://dx.doi.org/10.1007/978-94-011-5318-8_69.

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Eißing, Tabea. "Vorbeugen und Verhindern. Über den vereindeutigenden Umgang mit Unsicherheit bei Frauen mit einer BRCA-Mutation". In Die Regierung der Gene, 57–82. Wiesbaden: Springer Fachmedien Wiesbaden, 2015. http://dx.doi.org/10.1007/978-3-658-09651-9_3.

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Okuma, Hitomi Sumiyoshi, e Kan Yonemori. "BRCA Gene Mutations and Poly(ADP-Ribose) Polymerase Inhibitors in Triple-Negative Breast Cancer". In Advances in Experimental Medicine and Biology, 271–86. Singapore: Springer Singapore, 2017. http://dx.doi.org/10.1007/978-981-10-6020-5_13.

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Schmidt, Marjanka K., Alexandra J. van den Broek, Mark E. Robson, Ornella Campanella, Soo Hwang Teo, Irene L. Andrulis, Eveline M. Bleiker e Fred H. Menko. "Genetics". In Breast cancer: Global quality care, a cura di Hans Junkermann, Wolfgang Buchberger, Sylvia Heywang-Köbrunner, Michael Michell, Alexander Mundinger, Carol Benn e Sophia Zackrisson, 234–50. Oxford University Press, 2019. http://dx.doi.org/10.1093/med/9780198839248.003.0021.

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Abstract: About 10–30% of breast cancers are estimated to be explained by known (mostly modifiable) lifestyle and environmental factors; this is population dependent. Another 20–30% of breast cancers can be explained by germline genetics. For women with pathogenic BRCA1 and BRCA2 mutations, the risk of developing breast cancer is estimated to be between 27% and 80% by age 70 years, compared to a 4–12% lifetime risk for the general female population worldwide. Pathogenic mutations in BRCA1 increase risk for ovarian cancer as well as for a range of other tumours. After genetic testing, the gene mutation status can be used for cancer risk prediction in affected and healthy individuals. But even when no pathogenic variant in an established breast cancer gene is detected, persons can still be at increased risk of breast cancer due to a mutation in a gene that was not tested, or more likely, a probably polygenic, heritable component that is not (yet) known. With all the technical advances that have been made in sequencing in recent years, gene panel testing has been developed, enabling testing for mutations, simultaneously, in a set of multiple genes. Currently, genetic testing and breast cancer risk prediction is mainly done for high-risk individuals and families in the clinical genetic setting. However, the infrastructures for implementation of population-based genetic testing are under development.

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"Prophylactic Mastectomy and BRCA1 or BRCA2 Gene Mutations". In Oncoplastic and Reconstructive Surgery for Breast Cancer, 143–46. Berlin, Heidelberg: Springer Berlin Heidelberg, 2009. http://dx.doi.org/10.1007/978-3-642-00144-4_12.

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Esplen, Mary Jane, Jonathan Hunter e Eveline M. A. Bleiker. "Psychosocial Issues in Genetic Testing for Breast/Ovarian Cancer". In Psycho-Oncology, a cura di Paul B. Jacobsen, 95–101. Oxford University Press, 2021. http://dx.doi.org/10.1093/med/9780190097653.003.0014.

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Approximately 10% of all breast cancers are due to hereditary factors, with the majority caused by mutations in two autosomal dominant breast cancer genes, BRCA1 and BRCA2. Mutations in these genes are associated with cumulative risks of breast cancer of 72% in BRCA1 mutation carriers and 69% in BRCA2 mutation carriers by age 80. Mutation carriers who develop breast cancer have elevated risk for contralateral breast cancer. BRCA1/2 mutations also place women at elevated risk for ovarian cancer. Genetic counseling and testing are available to individuals, with or without cancer, to inform health-related decision-making. While genetic knowledge offers opportunities for prevention, including prophylactic risk-reducing surgery, a number of psychological and social challenges have been identified in the BRCA1/2 population. This chapter provides a broad overview of seminal research on the psychosocial impacts of genetic testing in BRCA1/2 with the goal of helping readers better identify, evaluate, and treat psychosocial challenges stemming from the process of genetic testing. Identifiable risk factors for psychosocial distress during the genetic counseling process are summarized. The chapter points toward key psychometric instruments designed to support psychosocial screening in cancer genetic populations. Further, a summary of intervention strategies to support psychosocial adaptation to genetic testing is provided.

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Berstein, L., A. Koskela, M. Boyarkina e H. Adlercreutz. "Urine Estrogens, Catecholestrogens and Phytoestrogens in BRCA1 Gene Mutations Carriers: Relation to Reactive Glycemia." In Posters I, P2–50—P2–50. Endocrine Society, 2010. http://dx.doi.org/10.1210/endo-meetings.2010.part2.p1.p2-50.

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"The ‘Ashkenazi BRCA Mutations’". In Risky Genes, 52–67. Routledge, 2012. http://dx.doi.org/10.4324/9780203102572-9.

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Koleckova, Marketa, Katherine Vomackova e Zdenek Kolar. "Molecular Prognostic and Predictive Markers in Triple - Negative Breast Cancer". In Breast Cancer [Working Title]. IntechOpen, 2021. http://dx.doi.org/10.5772/intechopen.97282.

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Triple-negative breast cancer (TNBC) is defined as a molecular subtype of breast cancer that lacks expression of hormone receptors (oestrogen and progesterone receptor) and HER2/neu/ErbB2 protein. It accounts for 15–20% of all invasive breast cancers. The occurrence of TNBC is often associated with younger age at the time of diagnosis and pre-menopausal status, early onset of menarche, higher body mass index (BMI) in the pre-menopausal period, race and ethnicity (African, Hispanic) and the presence of germline mutation in the BRCA1/2 genes or somatic mutation in the TP53 or PTEN genes. TNBCs are specific in its aggressive biological behaviour, shorter interval to disease progression and more frequent relapse within five years (19 to 40 months). The most of TNBCs are represented by high-grade invasive carcinomas of no special type (NST) with high proliferation index measured by Ki-67 nuclear expression, followed by metaplastic carcinomas, secretory carcinomas, and adenoid cystic carcinomas. Genetical and morphological heterogeneity inside TNBC is responsible for the higher frequency of primary and secondary resistance to systemic therapy. The scope of this chapter is to summarise the potential therapeutic agents involved in regulation of cell proliferation, migration, angiogenesis, apoptosis, gene expression and DNA damage or immune response. The insight into this issue is essential for the setting of the optimal chemotherapy regimen and targeted therapeutic strategy.

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Mala, YM, Shelly Arora e Niharika Yedla. "BRCA Gene Mutation: What to do and When?" In Controversies in Obstetrics and Gynecology, 119. Jaypee Brothers Medical Publishers (P) Ltd., 2014. http://dx.doi.org/10.5005/jp/books/12002_16.

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Atti di convegni sul tema "Brca1 gene mutations"

Mukhopadhyay, Asima, Nicola Curtin e Richard Edmondson. "Evaluation of different methods to assess homologous recombination status and sensitivity to PARP inhibitors in ovarian cancer". In 16th Annual International Conference RGCON. Thieme Medical and Scientific Publishers Private Ltd., 2016. http://dx.doi.org/10.1055/s-0039-1685289.

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Methods: Matched samples of ascites and tumor tissue were taken from patients undergoing surgery for epithelial ovarian cancer. Tumor samples were formalin fixed and paraffin embedded (FFPE); ascites samples were used to generate primary cultures (PC). HR status was determined in PCs as previously described.[1] IC50 for the PARP inhibitor Rucaparib was estimated using SRB assays. DNA was extracted from the FFPE tissue. The following techniques were evaluated in PCs or paired FFPE samples: DR-GFP reporter assay, PARP activity assay, BRCA1 expression on immunohistochemistry, BRCA1 methylation status and BRCA1/2 mutation analysis. A next generation sequencing based assay was used to detect mutations and other genomic alterations in a large panel of cancer-associated genes, including BRCA1/2. Results: Paired samples were collected from 64 patients and characterized for HR function. 47/64 (76%) were high grade serous. 44% (28/64)) were HR defective (HRD) by Rad51 assay and correlated with Rucaparib sensitivity (PPV-92%, NPV-100%). Molecular analysis revealed that all mutations and other genomic alterations detected in ascites derived PCs were also found in matched FFPE tumor tissues. All tumors with serous histology contained p53 mutations, whilst the remaining tumors without p53 mutations were non-serous in histology. DR-GFP assay was unreliable in PC due to poor transfection. In a subset of 50 cancers there was reduced BRCA1 expression in the HRD vs. HRC tumours (34.8% vs. 22.7%, ns) whilst in a further subset of 30 cases there was no difference in endogenous or stimulated PARP activity between HRD and HRC tumours. Deleterious BRCA2 mutations were identified in 7 tumors, 6 of which were HRD. Only 1 deleterious BRCA1 mutation was detected but methylation of BRCA1 was identified in 13 of 64 (20%) tumors, 7 of which were HRD. Mutation of BRCA2 was mutually exclusive to methylation of BRCA1. HRD vs. HRC tumours showed BRCA1 methylation (25% vs. 17%) and BRCA1/2 mutation (21% vs. 0.3%). 14/28 (50%) HR defective tumors do not have BRCA1/2 mutations or BRCA1 methylation, suggesting other mechanisms can also result in a HR defective phenotype. 28/64 (43%) of samples demonstrated the HR defective phenotype. In all cases HR status correlated with sensitivity to Rucaparib. Conclusion: As expected, deleterious BRCA2 mutations conferred a HRD phenotype in cells but methylation of BRCA1 was not universally associated with HRD. This may be as a result of only partial silencing of the gene by methylation and further work is required to identify thresholds of methylation which may predict HR status. The use of BRCA1/2 mutation testing alone is unlikely to identify the majority of HR defective ovarian tumors. Assessment of functional status of HRD is the preferred option and further technologies should be developed to simplify the Rad51 assay.

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Benitez-Buelga, Carlos, Tereza Vaclova, María Sofia Ferreira, Nora Soberon, María Antonia Blasco, Ana Osorio e Javier Benitez. "Abstract 2547: Molecular insights into OGG1 gene, a modifier of cancer risk in BRCA1 and BRCA2 mutations carriers". In Proceedings: AACR 107th Annual Meeting 2016; April 16-20, 2016; New Orleans, LA. American Association for Cancer Research, 2016. http://dx.doi.org/10.1158/1538-7445.am2016-2547.

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Pereira, Silma R., Marcia M. C. Oliveira, Bassem R. Haddad, Patricia E. Berg e Luciane R. Cavalli. "Abstract 3056: Amplification of the BP1 homeobox gene in familial breast cancer with BRCA1/2 mutations". In Proceedings: AACR 102nd Annual Meeting 2011‐‐ Apr 2‐6, 2011; Orlando, FL. American Association for Cancer Research, 2011. http://dx.doi.org/10.1158/1538-7445.am2011-3056.

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Balmaña, J., J. Ferro, S. Gutierrez-Enríquez, M. Masas, N. Gadea, D. Fortuny, C. Saura, O. Díez e O. Díez. "Preliminary Results of the Mutational Analysis of the TP53 Gene in Women Diagnosed with Breast Cancer before the Age of 35 Years and Negative for BRCA1 and BRCA2 Mutations." In Abstracts: Thirty-Second Annual CTRC‐AACR San Antonio Breast Cancer Symposium‐‐ Dec 10‐13, 2009; San Antonio, TX. American Association for Cancer Research, 2009. http://dx.doi.org/10.1158/0008-5472.sabcs-09-4072.

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"Case series: Breast and ovarian cancer syndrome". In 16th Annual International Conference RGCON. Thieme Medical and Scientific Publishers Private Ltd., 2016. http://dx.doi.org/10.1055/s-0039-1685348.

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Aims and Objectives: To report a series of cases with breast and ovarian carcinomas either in same patient or in a family and identifying the importance of BRCA 1,2 genetic testing in such individuals. Materials and Methods: The medical records of breast and ovarian cancer patients operated over past 3 years at a single institute were reviewed retrospectively and their clinical profile, family history, final pathological reports and follow up data was collected. Results: 8 patients were found to have breast and ovarian malignancies, out of which 3 had synchronous breast and ovarian cancers, 4 had metachronous and 1 patient with ovarian cancer had history of breast cancer in family. Median age of presentation to the hospital was 47 years and median time interval in metachronous disease patients was 5.5 years. Conclusion: About 5% of people who have breast cancer and about 10% of women who have ovarian cancer have HBOC, caused by germline mutation in BRCA1, 2 gene. These individuals have increased risk of developing breast cancer at younger age, TNBC, or developing a second primary in breast or ovary plus an overall risk of breast/ovarian/prostate/pancreatic malignancies in other family members due to inheritable mutation. Identification of BRCA mutation in such individuals can help family members to undergo genetic counseling and follow different screening and prevention guidelines from general population thus reducing the cancer risks.

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Cheng, Yu-Hung, Chih-Hung Wang, Keng-Fu Hsu e Gwo-Bin Lee. "An Integrated Microfluidic Platform for Detecting BRCA1/BRCA2 Gene Mutation and Risk Assessment of Ovarian Cancer". In 2021 21st International Conference on Solid-State Sensors, Actuators and Microsystems (Transducers). IEEE, 2021. http://dx.doi.org/10.1109/transducers50396.2021.9495503.

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Aims and Objectives: To report a series of cases with breast and ovarian carcinomas either in same patient or in a family and identifying the importance of BRCA 1, 2 genetic testing in such individuals. Materials and Methods: The medical records of breast and ovarian cancer patients operated over past 3 years at a single institute were reviewed retrospectively and their clinical profile, family history, final pathological reports and follow up data was collected. Results: 8 patients were found to have breast and ovarian malignancies, out of which 3 had synchronous breast and ovarian cancers, 4 had metachronous and 1 patient with ovarian cancer had history of breast cancer in family. Median age of presentation to the hospital was 47 years and median time interval in metachronous disease patients was 5.5 years. Conclusion: About 5% of people who have breast cancer and about 10% of women who have ovarian cancer have HBOC, caused by germline mutation in BRCA 1, 2 gene. These individuals have increased risk of developing breast cancer at younger age, TNBC, or developing a second primary in breast or ovary plus an overall risk of breast/ovarian/prostate/pancreatic malignancies in other family members due to inheritable mutation. Identification of BRCA mutation in such individuals can help family members to undergo genetic counseling and follow different screening and prevention guidelines from general population thus reducing the cancer risks.

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Gastaldello, B., J. Champ, D. Lafon, A. Fraud, M. Longy, J. Viovy, J. Weber, F. Bonnet e N. Sevenet. "Enhanced mismatch mutation analysis: a new high throughput screening method for simultaneous detection of point mutation and gross gene rearrangement designed for BRCA1 and BRCA2 genes." In CTRC-AACR San Antonio Breast Cancer Symposium: 2008 Abstracts. American Association for Cancer Research, 2009. http://dx.doi.org/10.1158/0008-5472.sabcs-1102.

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Bittueva, M., P. Dzhambetova, D. Hashhozheva, Z. Bogotova e T. Handohov. "Mutation Frequency in BRCA1 And BRCA2 Genes Among Women with Breast Cancer in Kabardino-Balkaria". In Proceedings of the International Conference on Health and Well-Being in Modern Society (ICHW 2019). Paris, France: Atlantis Press, 2019. http://dx.doi.org/10.2991/ichw-19.2019.19.

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Antoniou, Antonis C. "Abstract MS1-1: Characterising cancer risks for carriers of mutations in BRCA1, BRCA2, PALB2, and RAD51C genes". In Thirty-Seventh Annual CTRC-AACR San Antonio Breast Cancer Symposium; December 9-13, 2014; San Antonio, TX. American Association for Cancer Research, 2015. http://dx.doi.org/10.1158/1538-7445.sabcs14-ms1-1.

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