Relevant bibliographies by topics / Germline variant

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Academic literature on the topic 'Germline variant'

Author: Grafiati
Published: 4 June 2021
Last updated: 7 February 2022

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Journal articles on the topic "Germline variant"

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Moody, Emily W., Jennie Vagher, Whitney Espinel, David Goldgar, Kelsi J. Hagerty, and Amanda Gammon. "Comparison of Somatic and Germline Variant Interpretation in Hereditary Cancer Genes." JCO Precision Oncology, no. 3 (December 2019): 1–8. http://dx.doi.org/10.1200/po.19.00144.

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PURPOSE To compare the classification of genetic variants reported on tumor genomic profiling (TGP) reports with germline classifications on clinical test results and ClinVar. Results will help to inform germline testing discussions and decisions in patients with tumor variants in genes that are relevant to hereditary cancer risk. PATIENTS AND METHODS This study compared somatic and germline classifications of small nucleotide variants in the following genes: BRCA1, BRCA2, CHEK2, PALB2, ATM, MLH1, MSH2, MSH6, and PMS2. Somatic classifications were taken from reports from a single commercial TGP laboratory of tests ordered by providers at Huntsman Cancer Institute between March 2014 and June 2018. Somatic variant interpretations were compared with classifications from germline test results as well as with ClinVar interpretations. RESULTS Of the 623 variants identified on TGP, 353 had a definitive classification in ClinVar, and 103 were assayed with a germline test, with 66 of the variants tested observed in germline. Analysis of somatic variants of uncertain significance listed on TGP reports determined that 22% had a different interpretation compared with ClinVar and that 32% differed from the interpretation on a germline test result. Pathogenic variants on TGP test results were found to differ 13% and 5% of the time compared with ClinVar interpretations and germline test results, respectively. CONCLUSION These results suggest that TGP variants are often classified differently in a germline context. Differences may be due to different processes in variant interpretation between somatic and germline laboratories. These results are important for health care providers to consider when making decisions about additional testing for hereditary cancer risks.
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Kraft, Ira L., and Lucy A. Godley. "Identifying potential germline variants from sequencing hematopoietic malignancies." Blood 136, no. 22 (November 26, 2020): 2498–506. http://dx.doi.org/10.1182/blood.2020006910.

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Abstract Next-generation sequencing (NGS) of bone marrow and peripheral blood increasingly guides clinical care in hematological malignancies. NGS data may help to identify single nucleotide variants, insertions/deletions, copy number variations, and translocations at a single time point, and repeated NGS testing allows tracking of dynamic changes in variants during the course of a patient’s disease. Tumor cells used for NGS may contain germline, somatic, and clonal hematopoietic DNA alterations, and distinguishing the etiology of a variant may be challenging. We describe an approach using patient history, individual variant characteristics, and sequential NGS assays to identify potential germline variants. Our current criteria for identifying an individual likely to have a deleterious germline variant include a strong family history or multiple cancers in a single patient, diagnosis of a hematopoietic malignancy at a younger age than seen in the general population, variant allele frequency > 0.3 of a deleterious allele in a known germline predisposition gene, and variant persistence identified on clinical NGS panels, despite a change in disease state. Sequential molecular testing of hematopoietic specimens may provide insight into disease pathology, impact patient and family members’ care, and potentially identify new cancer-predisposing risk alleles. Ideally, individuals should give consent at the time of NGS testing to receive information about potential germline variants and to allow future contact as research advances.
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Kraft, Ira L., and Lucy A. Godley. "Identifying potential germline variants from sequencing hematopoietic malignancies." Hematology 2020, no. 1 (December 4, 2020): 219–27. http://dx.doi.org/10.1182/hematology.2020006910.

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Abstract Next-generation sequencing (NGS) of bone marrow and peripheral blood increasingly guides clinical care in hematological malignancies. NGS data may help to identify single nucleotide variants, insertions/deletions, copy number variations, and translocations at a single time point, and repeated NGS testing allows tracking of dynamic changes in variants during the course of a patient’s disease. Tumor cells used for NGS may contain germline, somatic, and clonal hematopoietic DNA alterations, and distinguishing the etiology of a variant may be challenging. We describe an approach using patient history, individual variant characteristics, and sequential NGS assays to identify potential germline variants. Our current criteria for identifying an individual likely to have a deleterious germline variant include a strong family history or multiple cancers in a single patient, diagnosis of a hematopoietic malignancy at a younger age than seen in the general population, variant allele frequency > 0.3 of a deleterious allele in a known germline predisposition gene, and variant persistence identified on clinical NGS panels, despite a change in disease state. Sequential molecular testing of hematopoietic specimens may provide insight into disease pathology, impact patient and family members’ care, and potentially identify new cancer-predisposing risk alleles. Ideally, individuals should give consent at the time of NGS testing to receive information about potential germline variants and to allow future contact as research advances.
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Michalski, Scott T., Daniel Esteban Pineda Alvarez, Meaghan Russell, Shan Yang, Guru Sonpavde, and Edward D. Esplin. "Tumor sequencing with germline genetic testing: Identification of patients with hereditary cancer and precision treatment eligibility." Journal of Clinical Oncology 37, no. 15_suppl (May 20, 2019): 1580. http://dx.doi.org/10.1200/jco.2019.37.15_suppl.1580.

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1580 Background: Cancer is a fundamentally genetic disease, as such, somatic and germline mutation analysis is used in the comprehensive assessment of patients with cancer. Studies report that approximately 10% of patient’s tumors have clinically significant variants known to predispose to hereditary cancer, with medical implications for both patients and family members. We retrospectively reviewed a series of patients where providers suspected a somatic variant also existed in the germline and followed up with clinical germline genetic testing. We report the rate of concordance between germline and somatic results and their clinical impact. Methods: Our study used de-identified data from 1043 consecutive patients who underwent somatic genetic testing followed by germline testing with NGS-based hereditary cancer gene panels. Results: Somatic results most frequently prompting germline testing included variants in BRCA2 (290), BRCA1 (174), TP53 (158), ATM (70), MLH1 (65), APC (65), PMS2 (61), MSH6 (58), PTEN (54) and CDH1 (42). In 364/1043 cases (35%) the variant was detected as likely pathogenic or pathogenic (LP/P) in the germline. Genes confirmed as germline variants in 60-100% of cases included: FANCA, AXIN2, RAD50, MUTYH, BLM, PALB2, CHEK2, FANCD2, MITF, SDHB. Variants in: FH, BRCA2, RET, ATM, SDHA, BRIP1, MSH2, BRCA1, BAP1, EGFR and RAD51D confirmed in the germline in 25-60%. Variants were rarely germline for TP53 (3%), APC (3%), PTEN (2%) and none in CDKN2A, NF1 and STK11. In 24 (2%) cases a LP/P germline variant was detected but not reported in the tumor. Conclusions: Approximately ⅓ of patients suspected to have hereditary risk after tumor testing had LP/P germline variants. Notably, some genes had a high probability of variants occurring in the germline, while others were primarily seen in tumors. Interestingly, 6% of the germline variants were not included on the somatic report due to technical and gene content differences in either assays or due to differences of clinical classification between somatic and germline testing. Adding germline results to somatic testing may inform options for precision treatment, prevention, or early detection of, secondary malignancies and guide genetic counseling of family members.
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Fujita, Atsushi, Takefumi Higashijima, Hiroshi Shirozu, Hiroshi Masuda, Masaki Sonoda, Jun Tohyama, Mitsuhiro Kato, et al. "Pathogenic variants of DYNC2H1, KIAA0556, and PTPN11 associated with hypothalamic hamartoma." Neurology 93, no. 3 (June 13, 2019): e237-e251. http://dx.doi.org/10.1212/wnl.0000000000007774.

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ObjectiveIntensive genetic analysis was performed to reveal comprehensive molecular insights into hypothalamic hamartoma (HH).MethodsThirty-eight individuals with HH were investigated by whole exome sequencing, target capture-based deep sequencing, or single nucleotide polymorphism (SNP) array using DNA extracted from blood leukocytes or HH samples.ResultsWe identified a germline variant of KIAA0556, which encodes a ciliary protein, and 2 somatic variants of PTPN11, which forms part of the RAS/mitogen-activated protein kinase (MAPK) pathway, as well as variants in known genes associated with HH. An SNP array identified (among 3 patients) one germline copy-neutral loss of heterozygosity (cnLOH) at 6p22.3–p21.31 and 2 somatic cnLOH; one at 11q12.2–q25 that included DYNC2H1, which encodes a ciliary motor protein, and the other at 17p13.3–p11.2. A germline heterozygous variant and an identical somatic variant of DYNC2H1 arising from cnLOH at 11q12.2–q25 were confirmed in one patient (whose HH tissue, therefore, contains biallelic variants of DYNC2H1). Furthermore, a combination of a germline and a somatic DYNC2H1 variant was detected in another patient.ConclusionsOverall, our cohort identified germline/somatic alterations in 34% (13/38) of patients with HH. Disruption of the Shh signaling pathway associated with cilia or the RAS/MAPK pathway may lead to the development of HH.
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Aldubayan, Saud H., Jake Conway, Leora Witkowski, Eric Kofman, Brendan Reardon, Sabrina Camp, Seunghun Han, et al. "Expanding the diagnostic yield of germline genetic testing in cancer patients using deep learning." Journal of Clinical Oncology 38, no. 15_suppl (May 20, 2020): 1518. http://dx.doi.org/10.1200/jco.2020.38.15_suppl.1518.

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1518 Background: Germline genetic analysis is an essential tool for implementing precision cancer prevention and treatment. However, only a small fraction of cancer patients, even those with features suggestive of a cancer-predisposition syndrome, have detectable pathogenic germline events, which may in part reflect incomplete pathogenic variant detection by current gold-standard methods. Here, we leveraged deep learning approaches to expand the diagnostic utility of genetic analysis in cancer patients. Methods: Systematic analysis of the detection rate of pathogenic cancer-predisposition variants using the standard clinical variant detection method and a deep learning approach in germline whole-exome sequencing data of 2367 cancer patients (n = 1072 prostate cancer, 1295 melanoma). Results: Of 1072 prostate cancer patients, deep learning variant detection identified 16 additional prostate cancer patients with clinically actionable pathogenic cancer-predisposition variants that went undetected by the gold-standard method (198 vs. 182), yielding higher sensitivity (94.7% vs. 87.1%), specificity (64.0% vs. 36.0%), positive predictive value (95.7% vs. 91.9%), and negative predictive value (59.3% vs. 25.0%). Similarly, germline genetic analysis of 1295 melanoma patients showed that, compared with the standard method, deep learning detected 19 additional patients with validated pathogenic variants (93 vs. 74) with fewer false-positive calls (78 vs. 135) leading to a higher diagnostic yield. Collectively, deep learning identified one additional patient with a pathogenic cancer-risk variant, that went undetected by the standard method, for every 52 to 67 cancer patients undergoing germline analysis. Superior performance of deep learning, for detecting putative loss-of-function variants, was also seen across 5197 clinically relevant Mendelian genes in these cohorts. Conclusions: The gold-standard germline variant detection method, universally used in clinical and research settings, has significant limitations for identifying clinically relevant pathogenic disease-causing variants. We determined that deep learning approaches have a clinically significant increase in the diagnostic yield across commonly examined Mendelian gene sets.
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Rampersaud, Evadnie, David S. Ziegler, Ilaria Iacobucci, Debbie Payne-Turner, Michelle L. Churchman, Kasmintan A. Schrader, Vijai Joseph, et al. "Germline deletion of ETV6 in familial acute lymphoblastic leukemia." Blood Advances 3, no. 7 (April 2, 2019): 1039–46. http://dx.doi.org/10.1182/bloodadvances.2018030635.

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Abstract Recent studies have identified germline mutations in TP53, PAX5, ETV6, and IKZF1 in kindreds with familial acute lymphoblastic leukemia (ALL), but the genetic basis of ALL in many kindreds is unknown despite mutational analysis of the exome. Here, we report a germline deletion of ETV6 identified by linkage and structural variant analysis of whole-genome sequencing data segregating in a kindred with thrombocytopenia, B-progenitor acute lymphoblastic leukemia, and diffuse large B-cell lymphoma. The 75-nt deletion removed the ETV6 exon 7 splice acceptor, resulting in exon skipping and protein truncation. The ETV6 deletion was also identified by optimal structural variant analysis of exome sequencing data. These findings identify a new mechanism of germline predisposition in ALL and implicate ETV6 germline variation in predisposition to lymphoma. Importantly, these data highlight the importance of germline structural variant analysis in the search for germline variants predisposing to familial leukemia.
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Karantanos, Theodoros, Shruti Chaturvedi, Christopher D. Gocke, Donna Marie Williams, Alison R. Moliterno, and Evan M. Braunstein. "ATM Germline Variant Increases the Risk of MPN Progression." Blood 134, Supplement_1 (November 13, 2019): 835. http://dx.doi.org/10.1182/blood-2019-125362.

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Introduction: Chronic myeloproliferative neoplasms (MPN) share the same driver mutations but their disease course and prognosis varies significantly. Deficiency of DNA damage repair (DDR) due to germline mutation is known to predispose to certain cancer types and has been implicated in the biology of MPN. The aim of our study was to evaluate the impact of germline variants in DDR genes in the natural history and outcomes of MPN patients. Patients and Methods: 76 individuals who were diagnosed with MPN (essential thrombocytosis (ET), polycythemia vera (PV) and primary myelofibrosis (PMF)) at Johns Hopkins University Hospital were included in this study. Targeted sequencing of 63 genes implicated in myeloid malignancies was performed as part of a standard clinical evaluation. Germline variants were determined by a variant allele frequency between 40-60% in blood samples and presence in the dbSNP database. Only rare variants (minor allele frequency < 0.01) were included in this analysis. Regression analysis was used to determine the association of the presence of germline variants with disease phenotype, driver mutation, number of somatic mutations, age and sex. Cox regression and Kaplan-Meier were used to assess the implication of germline variants in the progression to MF. Results: Median time from diagnosis to enrollment and follow up were 6 and 11 years respectively. 22 patients (28.9%) had at least one variant in a DDR gene, with ATM the most frequent (11/76 patients, 14.5%). Other recurrently mutated DDR genes included RECQL4 (6/76 patients, 7.9%), ATRX and RAD50 (Figure 1A). Patients with an ATM germline variant had higher incidence of a second malignancy (OR 4.37, 95% CI 1.16 - 16.46, P=0.029), a non-significant trend toward positive family history of malignancy (OR 3.75, 95% CI 0.91 - 15.46, P=0.067) and higher incidence of both second malignancy and positive family history of cancer (OR 4.58, 95% CI 1.17 - 17.94, P=0.029) (Figure 1B). The presence of an ATM germline variant was associated with MF or AML as opposed to ET or PV at the time of sequencing (RRR 5.84, 95% CI 1.12 - 30.34, P=0.036) independently of driver mutation, number of additional somatic mutations, age and male sex (Figure 1C). We did not find a significant difference in the number of somatic mutations between patients with and without ATM variant, however there was a trend toward increased chromosomal abnormalities among patients with ATM variant (Figure 1D). Finally, the presence of ATM variant was associated with higher risk of MF transformation (HR 3.43, 95% CI 1.02 - 11.6, P=0.047) independently of driver mutation (JAK2 Ref, CALR - HR 0.79, 95% CI 0.21 - 2.94, P=0.73) and male sex (HR 1.4, 95% CI 0.52 - 3.76, P=0.68). Kaplan-Meier analysis confirmed that progression to MF-free survival was shorter in patients harboring an ATM variant (P=0.01) (Figure 1E). Conclusion: The presence of a DDR gene germline variant, particularly ATM, is relatively common among patients with MPN. Patients with ATM variants had higher incidence of additional cancers and family history of malignancy, as well as an association with MF/AML phenotype and early transformation to MF. These data suggest involvement of ATM signaling in the progression of MPN, potentially via accumulation of DNA damage and genomic instability. Figure 1. A. Frequency of germline variants in MPN patients. The graph includes the gene variants identified in at least 2 distinct patients. Of known DDR related genes (in red) ATM is the most frequent (11/76 patients, 14.5%), followed by RECQL4 (6/76 patients, 7.9%) and ATRX and RAD50. B. Personal and family history of cancer among patients with and without ATM variant. Patients with ATM germline variant have higher incidence of additional malignancy (OR 4.37, 95% CI 1.16 - 16.46, P=0.029), higher incidence of family history of malignancy (OR 3.75, 95% CI 0.91 - 15.46, P=0.067) and higher incidence of concurrent personal history of malignancy and family history of malignancy (OR 4.58, 95% CI 1.17 - 17.94, P=0.029). C. MPN subtype per ATM variant status. Patients with an ATM germline variant were more likely to have MF or AML at the time of sequencing independent of driver mutation, number of somatic mutations, age and sex. D. Patients with an ATM variant had higher number of chromosomal abnormalities. E. Kaplan-Meier analysis of progression to MF free survival(P=0.01). Disclosures Chaturvedi: Shire/Takeda: Research Funding; Alexion: Consultancy; Sanofi: Consultancy.
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Cardot Bauters, Catherine, Emmanuelle Leteurtre, Bruno Carnaille, Christine Do Cao, Stéphanie Espiard, Malo Penven, Evelyne Destailleur, et al. "Genetic predisposition to neural crest-derived tumors: revisiting the role of KIF1B." Endocrine Connections 9, no. 10 (October 2020): 1042–50. http://dx.doi.org/10.1530/ec-20-0460.

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Objective We previously described a family in which predisposition to pheochromocytoma (PCC) segregates with a germline heterozygous KIF1B nucleotide variant (c.4442G>A, p.Ser1481Asn) in three generations. During the clinical follow-up, one proband’s brother, negative for the KIF1B nucleotide variant, developed a bilateral PCC at 31 years. This prompted us to reconsider the genetic analysis. Design and methods Germline DNA was analyzed by next-generation sequencing (NGS) using a multi-gene panel plus MLPA or by whole exome sequencing (WES). Tumor-derived DNA was analyzed by SnapShot, Sanger sequencing or NGS to identify loss-of-heterozygosity (LOH) or additional somatic mutations. Results A germline heterozygous variant of unknown significance in MAX (c.145T>C, p.Ser49Pro) was identified in the proband’s brother. Loss of the wild-type MAX allele occurred in his PCCs thus demonstrating that this variant was responsible for the bilateral PCC in this patient. The proband and her affected grandfather also carried the MAX variant but no second hit could be found at the somatic level. No other pathogenic mutations were detected in 36 genes predisposing to familial PCC/PGL or familial cancers by WES of the proband germline. Germline variants detected in other genes, TFAP2E and TMEM214, may contribute to the multiple tumors of the proband. Conclusion In this family, the heritability of PCC is linked to the MAX germline variant and not to the KIF1B germline variant which, however, may have contributed to the occurrence of neuroblastoma (NB) in the proband.
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Garza-Rodríguez, María Lourdes, Víctor Treviño, Antonio Alí Pérez-Maya, Hazyadee Frecia Rodríguez-Gutiérrez, Moisés González-Escamilla, Miguel Ángel Elizondo-Riojas, Genaro A. Ramírez-Correa, Oscar Vidal-Gutiérrez, Carlos Horacio Burciaga-Flores, and Diana Cristina Pérez-Ibave. "Identification of a Novel Pathogenic Rearrangement Variant of the APC Gene Associated with a Variable Spectrum of Familial Cancer." Diagnostics 11, no. 3 (February 28, 2021): 411. http://dx.doi.org/10.3390/diagnostics11030411.

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Familial adenomatous polyposis (FAP) is an autosomal-dominant condition characterized by the presence of multiple colorectal adenomas, caused by germline variants in the adenomatous polyposis coli (APC) gene. More than 300 germline variants have been characterized. The detection of novel variants is important to understand the mechanisms of pathophysiology. We identified a novel pathogenic germline variant using next-generation sequencing (NGS) in a proband patient. The variant is a complex rearrangement (c.422+1123_532-577 del ins 423-1933_423-1687 inv) that generates a complete deletion of exon 5 of the APC gene. To study the variant in other family members, we designed an endpoint PCR method followed by Sanger sequencing. The variant was identified in the proband patient’s mother, one daughter, her brother, two cousins, a niece, and a second nephew. In patients where the variant was identified, we found atypical clinical symptoms, including mandibular, ovarian, breast, pancreatic, and gastric cancer. Genetic counseling and cancer prevention strategies were provided for the family. According to the American College of Medical Genetics (ACMG) guidelines, this novel variant is considered a PVS1 variant (very strong evidence of pathogenicity), and it can be useful in association with clinical data for early surveillance and suitable treatment.
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Dissertations / Theses on the topic "Germline variant"

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Li, Samuel. "Rare Germline Variant Contributions to Myeloid Malignancy Susceptibility." Case Western Reserve University School of Graduate Studies / OhioLINK, 2020. http://rave.ohiolink.edu/etdc/view?acc_num=case158654099909817.

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Mazhar, Sahar. "Somatic and Germline Disruption of Protein Phosphatase 2A in Cancer: Challenges of Using Established Tools to Study PP2A Inhibition." Case Western Reserve University School of Graduate Studies / OhioLINK, 2020. http://rave.ohiolink.edu/etdc/view?acc_num=case1586544441054455.

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Inagaki(Kawata), Yukiko. "Genetic and clinical landscape of breast cancers with germline BRCA1/2 variants." Doctoral thesis, Kyoto University, 2021. http://hdl.handle.net/2433/263544.

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Zeron-Medina, Cuairan Jorge. "The identification and characterisation of germline genetic variants that affect human cancer." Thesis, University of Oxford, 2013. http://ora.ox.ac.uk/objects/uuid:8942602e-c0f8-4793-8020-d2eadd41b252.

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Single nucleotide polymorphisms (SNPs) have great potential to serve as important biomarkers in the clinic to identify those at increased risk for developing cancer, progressing more rapidly, and not responding to therapies. However, the clinical application of cancer-associated SNPs has proven to be more complicated than expected. One of the necessary steps will certainly be the description of the molecular and cellular mechanisms behind the observed associations. The p53 tumour suppressor pathway harbours well-described SNPs that affect p53 signalling and cancer. The aim of the work presented in this thesis was to utilise this knowledge to more efficiently characterise cancer-associated SNPs. Firstly, cancer-associated SNPs in a p53 network gene, CD44, were studied. Specifically, based on CD44’s known roles in both p53-dependent and independent signalling, it was predicted that the cancer-associated SNPs could function as biomarkers for chronic lymphocytic leukaemia progression, and for the response to anti-EGFR therapy for colorectal cancer. Indeed, supportive data is presented. Next, a methodology is presented that aims to identify cancer-associated SNPs in functional p53 binding sites using genome-wide datasets. Interestingly, a SNP is identified that dramatically influences the ability of p53 to regulate transcription of the KITLG oncogene and that associates with one of the largest risks of cancer identified to date. Intriguingly, the SNP is also shown to have undergone positive selection throughout human evolution, signifying a selective advantage, but similar SNPs are demonstrated to be rare in the genome due to negative selection, indicating that polymorphisms in p53 binding sites have been primarily detrimental to humans. Lastly, and in order to begin to explore if other polymorphic transcription factor binding motifs could be found in cancer-associated SNPs, a methodology was designed to identify SNPs in E-box transcription factor binding motifs, as they are sensitive to single base pair changes and affect cancer. Taken together, the work presented in this thesis shows how the study of how SNPs associate with, and impact upon, cancer has great potential to improve both biological knowledge and clinical outcomes.
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Demidov, German 1990. "Methods for detection of germline and somatic copy-number variants in next generation sequencing data." Doctoral thesis, Universitat Pompeu Fabra, 2019. http://hdl.handle.net/10803/668208.

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Germline copy-number variants (CNVs), as well as somatic copy-number alterations (CNAs), play an important role in many phenotypic traits, including genetic diseases and cancer. Next Generation Sequencing (NGS) allows accurate detection of short variants, but reliable detection of large-scale CNVs in NGS data remains challenging. In this work, I address this issue and describe a novel statistical method for detection of CNVs and CNAs implemented in the tool called ClinCNV. I present analytical performance measures of “ClinCNV” in different datasets, compare it with the performance of other existing methods, and show the advantages of ClinCNV. ClinCNV is already implemented as a part of the diagnostics pipeline at the Institute of Medical Genetics and Applied Genomics (IMGAG), Tuebingen, Germany. ClinCNV has the potential to facilitate molecular diagnostic of genetic-based diseases as well as cancer through accurate detection of copy-number variants.
Las variantes en el número de copias genéticas, tanto en estado germinal (CNV) como en somático (CNA), juegan un papel muy importante en muchos rasgos fenotípicos y están frecuentemente relacionadas con una gran variedad enfermedades genéticas y cáncer. Aunque la secuenciación de próxima generación (NGS) permite detectar variantes cortas con una gran precisión, la correcta detección de CNVs a gran escala con datos de secuenciación sigue siendo un gran desafío. En esta tesis, me centro en abordar este problema y describo un nuevo método estadístico para la detección de CNV y CNA englobado en una nueva herramienta llamada ClinCNV. Para el análisis del rendimiento de ClinCNV y demostrar las ventajas de este nuevo algoritmo, comparamos nuestra herramienta con otras existentes en distintos conjuntos de datos. Por otra parte, ClinCNV ya está implementado como parte del sistema de trabajo de diagnóstico en el Instituto de Genética Médica y Genómica Aplicada (IMGAG) en Tuebingen (Alemania). En resumen, ClinCNV tiene el potencial de facilitar el diagnóstico molecular de enfermedades genéticas y cáncer mediante la precisa detección de variantes en el número de copias genéticas.
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Mohanty, Vakul. "The Role of Non-oncogenic Variants in Cancers: Onco-passengers and Germline Polymorphisms." University of Cincinnati / OhioLINK, 2018. http://rave.ohiolink.edu/etdc/view?acc_num=ucin1535703150616707.

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Fearnhead, Nicola Shan. "The role of germline variants in multiple genes in inherited predisposition to colorectal adenoma formation." Thesis, University of Oxford, 2009. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.556157.

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Introduction: Around 20-30% of the population are thought to have some form of inherited predisposition to colorectal cancer outside of the genetic syndromes of familial adenomatous polyposis (FAP), MYH-associated polyposis (MAP) and hereditary non-polyposis colorectal cancer (HNPCC). Inherited susceptibility should be particularly suspected when colorectal cancer is diagnosed at young age, when a patient presents with synchronous or metachronous colorectal cancers or adenomas, or where there is a strong family history of colorectal cancer. The rare variant hypothesis of inherited susceptibility proposes that a number of low frequency variants in a variety of different genes, each conferring a moderate but detectable increase in relative risk of developing disease, may be responsible for non- syndromic predisposition to colorectal cancer. Rare variants may occur in many genes involved in colorectal tumorigenesis, including those with roles in Wnt signalling, transcriptional activation, mismatch repair, cell cycle regulatory mechanisms and cellular adhesion. Methods: DNA from 124 United Kingdom patients with between 3 and 100 adenomatous polyps was screened for germline variants in genes involved in Wnt signalling (APC, AXINI and CTNNBI), mismatch repair (hMLHI and hMSH2) and cell cycling (TP53). The APC variants II307K and EJ317Q were detected using amplification refractory mutation system (ARMS) polymerase chain reaction (PCR) and alkaline-mediated differential interaction (AMDI). For all other genes, PCR primers were designed to encompass the entire coding sequence of the gene and variant detection was carried out on the Transgenomic Wave" machine. Variants were sequenced and analysed using Sequencher" software. The findings in the sample population were compared with a population of 53 Korean patients with multiple adenomas, and with a panel of 483 healthy controls. Results: 30/124 (24.9%) of the U.K. multiple adenoma patients carried potentially pathogenic germline variants in the genes tested as compared to 55 (12%) of the controls. The overall association between the rare alleles at the loci tested and the formation of multiple adenomas, as compared to controls, was highly significant with an odds ratio of 2.2 (p = 0.0001). None of the variants identified in the U.K. patients was found in the Korean patients. Discussion: The difference in rare variants between cases and controls is highly significant, suggesting that many rare variants collectively contribute to inherited susceptibility to colorectal adenomas. Each variant would effect a subtle change in protein interaction or level of gene expression, resulting in only a marginal selective disadvantage but a clearly defined increase in relative risk. Such variants are likely to be population-specific, as in the cases of APC 1307K and E1317Q. Strategies for detection of multiple rare alleles include efficient variant detection and sequencing techniques in at-risk individuals, identification of candidate genes, large-scale population studies, careful selection of controls, and targeted statistical approaches. Each potential rare variant needs to be assessed for its functional consequences. These findings give support to the hypothesis that multiple rare alleles, predominantly missense, promoter and splice site variants, are collectively responsible for inherited susceptibility to colorectal cancer in the general population. It is probable that ultimately a large number of rare alleles will contribute more to the population burden of colorectal cancer than the classically inherited Mendelian syndromes associated with colorectal tumorigenesis.
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Montenegro-Garreaud, Ximena, Adam W. Hansen, Michael M. Khayat, Varuna Chander, Christopher M. Grochowski, Yunyun Jiang, He Li, et al. "Phenotypic expansion in KIF1A-related dominant disorders: A description of novel variants and review of published cases." John Wiley and Sons Inc, 2020. http://hdl.handle.net/10757/655505.

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KIF1A is a molecular motor for membrane-bound cargo important to the development and survival of sensory neurons. KIF1A dysfunction has been associated with several Mendelian disorders with a spectrum of overlapping phenotypes, ranging from spastic paraplegia to intellectual disability. We present a novel pathogenic in-frame deletion in the KIF1A molecular motor domain inherited by two affected siblings from an unaffected mother with apparent germline mosaicism. We identified eight additional cases with heterozygous, pathogenic KIF1A variants ascertained from a local data lake. Our data provide evidence for the expansion of KIF1A-associated phenotypes to include hip subluxation and dystonia as well as phenotypes observed in only a single case: gelastic cataplexy, coxa valga, and double collecting system. We review the literature and suggest that KIF1A dysfunction is better understood as a single neuromuscular disorder with variable involvement of other organ systems than a set of discrete disorders converging at a single locus.
National Institutes of Health
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Järviaho, T. (Tekla). "Germline predisposition to childhood acute lymphoblastic leukemia and bone marrow failure, and mitochondrial DNA variants in leukemia." Doctoral thesis, Oulun yliopisto, 2018. http://urn.fi/urn:isbn:9789526220437.

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Abstract Childhood acute lymphoblastic leukemia (ALL) is the most common cancer in children. The overall survival rate has reached to 90%. However, ALL still presents a significant disease burden and is a major cause for deaths in children. Recently, both inherited germline variants related to ALL susceptibility and somatic genetic variants forming novel subgroups of ALL have been discovered. In this thesis two families with familial ALL were studied. Constitutional heterozygous microdeletion at chromosome 7p12.1p13, including IKZF1, was discovered in the first family with intellectual impairment, overgrowth, and susceptibility to childhood ALL. In the second family, constitutional chromosome translocation was revealed in two individuals with childhood ALL and, subsequently, in seven unaffected family members. The balanced reciprocal translocation t(12;14)(p13.2;q23.1) resulted in breakpoints on two genes; ETV6 on chromosome 12 and RTN1 on chromosome 14. Only a few familial and sporadic ALL cases with germline variants in either IKZF1 or ETV6 have been published, thus supporting the significant role of these constitutional variants in childhood ALL predisposition. Inherited bone marrow failure syndromes (IBMFS) may predispose to childhood leukemia, including ALL. Two unrelated patients were diagnosed with bone marrow failure without the symptoms of classical IBMFS. Neither patient had any signs of developmental delay or congenital anomalies. Exome sequencing revealed identical c.1457del(p.(Ile486fs)) mutation on the ERCC6L2 gene in both patients. A few patients with IBMFS and ERCC6L2 variants have been described in previous studies. Some of them also had congenital craniofacial anomalies and developmental delay that were not detected in the patients in this thesis. The ALL cohort study on genetic variation of mitochondrial DNA (mtDNA) included 36 children. Metabolic change where malignant cells uncouple energy production from oxidative phosphorylation (OXPHOS) is one of the established hallmarks of cancer. In the cohort in this study, 22% of patients harbored nonsynonymous variants on mtDNA in the protein-coding genes of OXPHOS enzyme complexes. The somatic non-neutral variants were found in patients with a poor prognosis cytogenetic marker. The results support the hypothesis that cancer cells harbor mtDNA variants that may affect the cell metabolism
Tiivistelmä Akuutti lymfoblastileukemia (ALL) on lasten yleisin syöpä. Vaikka nykyisin noin 90 prosenttia paranee, ALL aiheuttaa huomattavan paljon sairastavuutta ja on merkittävä lasten kuolinsyy. Vastikään on löydetty perinnöllisiä geneettisiä muutoksia, jotka altistavat lapsuusiän ALL:lle. Tutkimuksen kohteena oli kaksi perhettä, joissa vähintään kaksi lasta on sairastunut ALL:aan. Ensimmäisessä perheessä havaittiin lapsuusiän ALL:aan sairastuneilla kehityshäiriöisillä sisaruksilla äidiltä periytyvä heterotsygoottinen deleetio kromosomissa 7p12.1p13, jossa sijaitsee IKZF1-geeni. Toisessa perheessä perinnöllinen kahden kromosomin translokaatio todettiin kahdella lapsuusiän ALL:aan sairastuneella sekä seitsemällä perheenjäsenellä. Balansoitu translokaatio t(12;14)(p13.2;q23.1) aiheuttaa katkaisukohdan ETV6-geeniin kromosomissa 12 ja RTN1-geeniin kromosomissa 14. Tähän mennessä on julkaistu vain muutamia tutkimuksia potilaista, joilla on ollut perinnöllinen muutos joko IKZF1- tai ETV6-geenissä. Näillä geeneillä oletetaan olevan tärkeä merkitys perinnöllisessä alttiudessa sairastua lapsuusiän ALL:aan. Perinnölliset luuytimen toimintahäiriöt voivat altistaa leukemialle, kuten ALL:lle. Kahdella lapsella todettiin luuytimen toimintahäiriö, mutta ei muita oireita, jotka voisivat liittyä tyypillisiin perinnöllisiin luuytimen toimintahäiriöihin. Eksomisekvensoinnissa todettiin identtinen, homotsygoottinen mutaatio c.1457del(p.(Ile486fs)) ERCC6L2-geenissä. Kirjallisuuslähteiden mukaan vain muutamalla potilaalla on todettu ERCC6L2-geenin muutoksesta johtuva luuytimen toimintahäiriö. Osalla heistä on ollut synnynnäisiä kallon ja kasvojen anomalioita sekä kehityshäiriö, jollaisia tähän tutkimukseen osallistuneilla potilailla ei todettu. Potilaskohorttitutkimuksessa tutkittiin mitokondriaalisen DNA:n (mtDNA) muutoksia ALL:aan sairastuneilla lapsilla. Syöpäsolut eivät hyödynnä mitokondrion elektroninsiirtoketjua energian tuotantoon, ja tämä aineenvaihdunnan muutos on tunnustettu syövän ominaisuus. Tutkimuksessa havaittiin, että 22 prosentilla potilaista ilmeni diagnoosivaiheessa poikkeavia mtDNA:n muutoksia, jotka olivat elektroninsiirtoketjun entsyymien alayksiköitä koodaavissa geeneissä. Muutoksia todettiin useimmiten potilailla, joilla oli leukemiasoluissa huonon ennusteen geneettinen tekijä. Havaitut muutokset voivat mahdollisesti vaikuttaa leukemiasolun energia-aineenvaihduntaan
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Rinckleb, Antje [Verfasser]. "Common germline variants for prostate cancer risk: implication in DNA repair and TMPRSS2-ERG fusion formation / Antje Rinckleb." Ulm : Universität Ulm. Medizinische Fakultät, 2014. http://d-nb.info/1054996709/34.

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Books on the topic "Germline variant"

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Penney, Kathryn L., Kyriaki Michailidou, Deanna Alexis Carere, Chenan Zhang, Brandon Pierce, Sara Lindström, and Peter Kraft. Genetic Epidemiology of Cancer. Oxford University Press, 2017. http://dx.doi.org/10.1093/oso/9780190238667.003.0005.

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Chapter 5 reviews epidemiologic studies conducted to identify germline (inherited) susceptibility loci. These studies can involve associations observed within high-risk family pedigrees or in large studies of unrelated individuals. The chapter reviews the methods used to estimate the aggregate contribution of inherited genetic susceptibility and to identify specific genetic loci associated with risk. Although there is considerable variability across cancers, most cancers exhibit familial clustering, driven in part by a small number of known rare variants with large relative risks and a larger number of common variants with modest relative risks. The chapter discusses the implications of these findings for clinical care, public health, and tumor biology. It closes with a discussion of open questions, most notably the puzzle of “missing heritability”: the fact that—despite tremendous advances—multiple lines of evidence suggest that most specific risk variants, both rare and common, have yet to be discovered.
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Book chapters on the topic "Germline variant"

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Geng, Yu, Zhongmeng Zhao, Daibin Cui, Tian Zheng, Xuanping Zhang, Xiao Xiao, and Jiayin Wang. "An Expanded Association Approach for Rare Germline Variants with Copy-Number Alternation." In Bioinformatics and Biomedical Engineering, 81–94. Cham: Springer International Publishing, 2017. http://dx.doi.org/10.1007/978-3-319-56154-7_9.

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Geng, Yu, Zhongmeng Zhao, Jing Xu, Ruoyu Liu, Yi Huang, Xuanping Zhang, Xiao Xiao, Maomao, and Jiayin Wang. "Identifying Heterogeneity Patterns of Allelic Imbalance on Germline Variants to Infer Clonal Architecture." In Intelligent Computing Theories and Application, 286–97. Cham: Springer International Publishing, 2017. http://dx.doi.org/10.1007/978-3-319-63312-1_26.

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Goh, Chee Leng, and Rosalind Anne Eeles. "Germline Genetic Variants Associated with Prostate Cancer and Potential Relevance to Clinical Practice." In Prostate Cancer Prevention, 9–26. Berlin, Heidelberg: Springer Berlin Heidelberg, 2014. http://dx.doi.org/10.1007/978-3-642-45195-9_2.

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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, and Fred H. Menko. "Genetics." In Breast cancer: Global quality care, edited by Hans Junkermann, Wolfgang Buchberger, Sylvia Heywang-Köbrunner, Michael Michell, Alexander Mundinger, Carol Benn, and 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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Sylvester, D. E., Y. Chen, R. V. Jamieson, L. Dalla-Pozza, and J. A. Byrne. "Cancer-predisposing germline variants and childhood cancer." In Precision Medicine for Investigators, Practitioners and Providers, 221–32. Elsevier, 2020. http://dx.doi.org/10.1016/b978-0-12-819178-1.00021-6.

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Best, Megan. "Psychosocial Issues in Genomic Testing, Including Genomic Testing for Targeted Therapies." In Psycho-Oncology, edited by Paul B. Jacobsen, 110–15. Oxford University Press, 2021. http://dx.doi.org/10.1093/med/9780190097653.003.0016.

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Psychosocial issues in genomic testing are an emerging area of investigation. As the growth in understanding of the molecular basis of cancer leads to a new way of characterizing cancer, a different therapeutic landscape has developed for both physicians and patients. Two types of genomic testing are currently used in clinical oncology. Molecular tumor profiling (somatic testing) involves testing tumor tissue with the aim of identifying targeted treatment or to guide therapy. Germline genomic sequencing (germline testing) is used to identify increased cancer risk to personalize preventative strategies. In addition to the obvious benefits of the technology, the results of genomic testing can bring challenges. Results can be complex, and the uncertainty they create is potentially a source of significant psychological stress. The growing use of testing for germline variants can generate solicited and unsolicited hereditary genetic (risk) information that could have medical, psychological, financial, and social consequences for patients and their family members and a considerable impact on their quality of life.
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Martin, Niamh M., Karim Meeran, and Stephen R. Bloom. "Multiple endocrine neoplasia type 2." In Oxford Textbook of Endocrinology and Diabetes, 951–53. Oxford University Press, 2011. http://dx.doi.org/10.1093/med/9780199235292.003.0682.

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Multiple endocrine neoplasia type 2 (MEN 2) is a rare cancer susceptibility syndrome which has at least three distinct variants: MEN 2A, MEN 2B, and familial medullary thyroid carcinoma (FMTC). The syndrome was first described by John Sipple in 1961 (1). The features of MEN 2A and its clinical variants are outlined in Box 6.12.1. Medullary thyroid carcinoma (MTC) is seen in all variants of MEN 2A and is frequently the earliest neoplastic manifestation, reflecting its earlier and overall higher penetrance. MEN 2 is due to the autosomal dominant inheritance of a germline missense mutation in the ‘hot-spot’ regions of the rearranged during transfection (RET) (OMIM 164761) proto-oncogene (2, 3). MEN 2 has an estimated prevalence of 1:30 000, with MEN 2A accounting for more than 75% of cases. The introduction of RET screening in family members of affected individuals has significantly altered the clinical outcome of MEN 2, by allowing prophylactic surgery for MTC, and screening enabling early intervention for phaeochromocytoma (4, 5). Prior to the availability of genetic screening, more that half of MEN 2 affected individuals died before or during the fifth decade from metastatic MTC or cardiovascular complications from an underlying phaeochromocytoma.
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Hamilton, Jada G., Amanda Watsula-Morley, and Alicia Latham. "Psychosocial Issues Related to Liquid Biopsy for ctDNA in Individuals at Normal and Elevated Risk." In Psycho-Oncology, edited by Paul B. Jacobsen, 116–18. Oxford University Press, 2021. http://dx.doi.org/10.1093/med/9780190097653.003.0017.

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The use of a liquid biopsy through analysis of circulating tumor DNA, or ctDNA, has received much attention as a potential diagnostic and prognostic tool in oncology. This chapter provides an overview of the medical application of liquid biopsy for ctDNA in individuals at normal and elevated risk of cancer. We discuss the psychosocial implications of ctDNA assays, including the incidental discovery of germline variants, the possibility of increased anxiety and uncertainty, and the potential for negative impact on quality of life. We conclude that although ctDNA shows great promise in improving disease outcomes among patients affected by cancer, further research is needed to establish the clinical validity and clinical utility of ctDNA assays. Additionally, psychosocial outcomes should be included in the balance of risks and benefits of these tests.
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Stiller, Charles A., and Gemma Gatta. "The Epidemiology of Cancer in Children and Adolescents." In Oxford Textbook of Cancer in Children, 1–11. Oxford University Press, 2020. http://dx.doi.org/10.1093/med/9780198797210.003.0001.

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Under 2% of all cancers in industrialized countries occur in childhood and adolescence, but they account for a much larger proportion of total population life years potentially lost to cancer. Total incidence is about 160 per million in children and 200 per million in adolescents. In children, leukaemias account for one third of all malignancies and CNS tumours for one quarter. In adolescents, lymphomas account for one quarter of cases and leukaemias, CNS tumours, and carcinomas each for about 15%. Five-year survival exceeds 80% for many childhood and some adolescent cancers. Although survival of adolescents is high overall, survival for several types of cancer is markedly lower than in children. Infants under a year of age also tend to have lower survival. Excess mortality continues beyond 25 years from diagnosis of childhood cancer. The risk of developing a second primary cancer is about six times that in the general population. The causes of most childhood cancers remain unknown. The principal established exogenous causes are ionizing radiation, ultraviolet radiation from sunlight, and certain viruses. Up to 10% of children and adolescents with cancer may have germline mutations in cancer predisposition genes. If one child in a family has cancer, then that child’s siblings have approximately double the risk of the general population for developing childhood cancer, but this could well be entirely accounted for by familial syndromes. Significantly raised or reduced risks of childhood cancers have been linked to polymorphic variants of certain genes, though many of these associations remain to be replicated.
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Conference papers on the topic "Germline variant"

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Dawson, Eric T., Erik Garrison, Adam Novak, Benedict Paten, Jordan Eizinga, Glenn Hickey, Stephen Chanock, and Richard Durbin. "Abstract 3570: Germline structural variant detection with variation graphs." In Proceedings: AACR Annual Meeting 2017; April 1-5, 2017; Washington, DC. American Association for Cancer Research, 2017. http://dx.doi.org/10.1158/1538-7445.am2017-3570.

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Id Said, Badr, Han Kim, James Tran, Ana Novokmet, and David Malkin. "Abstract 792: Super-transactivation TP53 variant in the germline of a family with Li-Fraumeni variant." 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.am2016-792.

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Ravichandran, Vignesh, Zarina Shameer, Kenneth Offit, and Vijai Joseph. "Abstract LB-383: Towards automation of germline variant curation in cancer genetics." In Proceedings: AACR Annual Meeting 2018; April 14-18, 2018; Chicago, IL. American Association for Cancer Research, 2018. http://dx.doi.org/10.1158/1538-7445.am2018-lb-383.

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Sweasy, Joann B., Heather Galick, Scott Kathe, and Susan Wallace. "Abstract 3590: A Neil1 DNA glycosylase germline variant induces genomic instability and cellular transformation." 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.am2016-3590.

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Polley, Amanda, Charles Vaske, Steve Benz, Patrick Soon-Shiong, Shahrooz Rabizadeh, and J. Zachary Sanborn. "Abstract 2253: Identifying pathogenic germline variants in 1,172 cancer patients utilizing a novel variant phasing tool and strict public database curation." In Proceedings: AACR Annual Meeting 2018; April 14-18, 2018; Chicago, IL. American Association for Cancer Research, 2018. http://dx.doi.org/10.1158/1538-7445.am2018-2253.

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KOIRE, AMANDA, PANAGIOTIS KATSONIS, and OLIVIER LICHTARGE. "REPURPOSING GERMLINE EXOMES OF THE CANCER GENOME ATLAS DEMANDS A CAUTIOUS APPROACH AND SAMPLE-SPECIFIC VARIANT FILTERING." In Proceedings of the Pacific Symposium. WORLD SCIENTIFIC, 2015. http://dx.doi.org/10.1142/9789814749411_0020.

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O'Donovan, EM, M. Farrell, and D. Gallagher. "Abstract P5-09-19: The complexity of germline panel testing: Cost, access and variant interpretation in an Irish context." In Abstracts: 2018 San Antonio Breast Cancer Symposium; December 4-8, 2018; San Antonio, Texas. American Association for Cancer Research, 2019. http://dx.doi.org/10.1158/1538-7445.sabcs18-p5-09-19.

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Darst, Burcu F., Jeannette T. Bensen, Sue A. Ingles, Benjamin A. Rybicki, Barbara Nemesure, Esther M. John, Jay H. Fowke, et al. "Abstract 3517: A germline variant at 8q24 contributes to familial clustering of prostate cancer in men of African ancestry." In Proceedings: AACR Annual Meeting 2020; April 27-28, 2020 and June 22-24, 2020; Philadelphia, PA. American Association for Cancer Research, 2020. http://dx.doi.org/10.1158/1538-7445.am2020-3517.

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Mahasneh, Amjad A., Fawaz Al-Shaheri, and Mohamemd N. Banihani. "Abstract 4655: Association of a new germline variant in the MUTYH DNA glycosylase gene with colorectal adenoma transformation into malignancy." In Proceedings: AACR Annual Meeting 2019; March 29-April 3, 2019; Atlanta, GA. American Association for Cancer Research, 2019. http://dx.doi.org/10.1158/1538-7445.sabcs18-4655.

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Salhia, Bodour, Khateeb Hyder Hussain, and John Carpten. "Abstract 2102: The germline nonsense variant K1019X results in loss of tumor suppressing function of EphB2 in prostate cancer cells." 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.am2011-2102.

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Reports on the topic "Germline variant"

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Jia, Ziqi, Jiang Wu, Jiaxin Li, Jiaqi Liu, and Xiang Wang. Meta-analysis of breast cancer risk associated with established germline pathogenic variants in breast cancer-predisposition genes in population-based studies. INPLASY - International Platform of Registered Systematic Review and Meta-analysis Protocols, February 2021. http://dx.doi.org/10.37766/inplasy2021.2.0017.

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