Relevant bibliographies by topics / Hereditary Syndromes

Contents

  1. Journal articles
  2. Dissertations / Theses
  3. Books
  4. Book chapters
  5. Conference papers

Academic literature on the topic 'Hereditary Syndromes'

Author: Grafiati
Published: 4 June 2021
Last updated: 1 February 2022

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Journal articles on the topic "Hereditary Syndromes"

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Radlovic, Nedeljko. "Hereditary hyperbilirubinemias." Srpski arhiv za celokupno lekarstvo 142, no. 3-4 (2014): 257–60. http://dx.doi.org/10.2298/sarh1404257r.

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Inherited disorders of bilirubin metabolism involve four autosomal recessive syndromes: Gilbert, Crigler- Najjar, Dubin-Johnson and Rotor, among which the first two are characterized by unconjugated and the second two by conjugated hyperbilirubinemia. Gilbert syndrome occurs in 2%-10% of general population, while others are rare. Except for Crigler-Najjar syndrome, hereditary hyperbilirubinemias belong to benign disorders and thus no treatment is required.
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Giusti, Francesca, Loredana Cavalli, Tiziana Cavalli, and Maria Luisa Brandi. "Hereditary Hyperparathyroidism Syndromes." Journal of Clinical Densitometry 16, no. 1 (January 2013): 69–74. http://dx.doi.org/10.1016/j.jocd.2012.11.003.

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Callenbach, Petra M. C., and Oebele F. Brouwer. "Hereditary epilepsy syndromes." Clinical Neurology and Neurosurgery 99, no. 3 (August 1997): 159–71. http://dx.doi.org/10.1016/s0303-8467(97)00019-x.

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Kidambi, Trilokesh D., Divyanshoo R. Kohli, N. Jewel Samadder, and Aparajita Singh. "Hereditary Polyposis Syndromes." Current Treatment Options in Gastroenterology 17, no. 4 (November 8, 2019): 650–65. http://dx.doi.org/10.1007/s11938-019-00251-4.

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Frank, Thomas S. "Hereditary Cancer Syndromes." Archives of Pathology & Laboratory Medicine 125, no. 1 (January 1, 2001): 85–90. http://dx.doi.org/10.5858/2001-125-0085-hcs.

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Abstract Objective.—To summarize the biological basis, clinical implications, identification, and medical management of syndromes associated with increased risk of common adult cancers. Data Sources.—Recent studies and data available from molecular and clinical analysis of genes responsible for autosomal-dominant inheritance of cancer risk. Data Synthesis.—Several hereditary cancer syndromes have been identified for which there are increasingly effective diagnostic and management options. Specific hereditary susceptibility syndromes have been characterized that increase the risk of malignancies of the breast, ovary, colon, endometrium, and endocrine organs. Following a summary of the biological basis of hereditary cancer risk in adults, the identification of such syndromes by clinical and laboratory means is reviewed. Finally, management options for individuals with these syndromes are summarized. Conclusions.—Advances in gene discovery have allowed the diagnosis of recently characterized hereditary cancer syndromes to enhance medical management for individuals with inherited susceptibility to common cancers.
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Piombino, Claudia, Laura Cortesi, Matteo Lambertini, Kevin Punie, Giovanni Grandi, and Angela Toss. "Secondary Prevention in Hereditary Breast and/or Ovarian Cancer Syndromes Other Than BRCA." Journal of Oncology 2020 (July 14, 2020): 1–10. http://dx.doi.org/10.1155/2020/6384190.

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BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndromes are among the best-known and most extensively studied hereditary cancer syndromes. Nevertheless, many patients who proved negative at BRCA genetic testing bring pathogenic mutations in other suppressor genes and oncogenes associated with hereditary breast and/or ovarian cancers. These genes include TP53 in Li–Fraumeni syndrome, PTEN in Cowden syndrome, mismatch repair (MMR) genes in Lynch syndrome, CDH1 in diffuse gastric cancer syndrome, STK11 in Peutz–Jeghers syndrome, and NF1 in neurofibromatosis type 1 syndrome. To these, several other genes can be added that act jointly with BRCA1 and BRCA2 in the double-strand break repair system, such as PALB2, ATM, CHEK2, NBN, BRIP1, RAD51C, and RAD51D. Management of primary and secondary cancer prevention in these hereditary cancer syndromes is crucial. In particular, secondary prevention by screening aims to discover precancerous lesions or cancers at their initial stages because early detection could allow for effective treatment and a full recovery. The present review aims to summarize the available literature and suggest proper screening strategies for hereditary breast and/or ovarian cancer syndromes other than BRCA.
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Vehapoğlu Türkmen, Aysel, Selçuk Uzuner, and Necati Taşkın. "PFAPA Syndrome and Hereditary Periodic Fever Syndromes." Journal of Pediatric Infection 6, no. 1 (March 15, 2012): 24–29. http://dx.doi.org/10.5152/ced.2012.05.

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Cone, Molly. "Hamartomatous Polyps and Associated Syndromes." Clinics in Colon and Rectal Surgery 29, no. 04 (November 21, 2016): 330–35. http://dx.doi.org/10.1055/s-0036-1582441.

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AbstractHamartomatous polyps of the gastrointestinal tract can occur sporadically, however, for several hereditary syndromes, their presence is one of the major clinical features. Peutz–Jeghers syndrome, juvenile polyposis syndrome, and the PTEN hamartoma syndromes are autosomal dominant inherited disorders that predispose to formation of such polyps, especially in the colon and rectum. These can lead to increased colorectal cancer risk and should be followed and managed appropriately. In this article, the three major hereditary hamartomatous syndromes are described, including presentation, colorectal surveillance, and management.
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Malkin, David, Kim E. Nichols, Kristin Zelley, and Joshua D. Schiffman. "Predisposition to Pediatric and Hematologic Cancers: A Moving Target." American Society of Clinical Oncology Educational Book, no. 34 (May 2014): e44-e55. http://dx.doi.org/10.14694/edbook_am.2014.34.e44.

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Our understanding of hereditary cancer syndromes in children, adolescents, and young adults continues to grow. In addition, we now recognize the wide variation in tumor spectrum found within each specific cancer predisposition syndrome including the risk for hematologic malignancies. An increased understanding of the genetic mutations, biologic consequences, tumor risk, and clinical management of these syndromes will improve patient outcome. In this article, we illustrate the diversity of molecular mechanisms by which these disorders develop in both children and adults with a focus on Li-Fraumeni syndrome, hereditary paraganglioma syndrome, DICER1 syndrome, and multiple endocrine neoplasia syndrome. This is followed by a detailed discussion of adult-onset tumors that can occur in the pediatric population including basal cell carcinoma, colorectal cancer, medullary thyroid cancer, and adrenal cortical carcinoma, and the underlying hereditary cancer syndromes that these tumors could indicate. Finally, the topic of leukemia predisposition syndromes is explored with a specific focus on the different categories of syndromes associated with leukemia risk (genetic instability/DNA repair syndromes, cell cycle/differentiation, bone marrow failure syndromes, telomere maintenance, immunodeficiency syndromes, and transcription factors/pure familial leukemia syndromes). Throughout this article, special attention is made to clinical recognition of these syndromes, genetic testing, and management with early tumor surveillance and screening.
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Simon, Anna, and Jos W. M. van der Meer. "Pathogenesis of familial periodic fever syndromes or hereditary autoinflammatory syndromes." American Journal of Physiology-Regulatory, Integrative and Comparative Physiology 292, no. 1 (January 2007): R86—R98. http://dx.doi.org/10.1152/ajpregu.00504.2006.

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Familial periodic fever syndromes, otherwise known as hereditary autoinflammatory syndromes, are inherited disorders characterized by recurrent episodes of fever and inflammation. The general hypothesis is that the innate immune response in these patients is wrongly tuned, being either too sensitive to very minor stimuli or turned off too late. The genetic background of the major familial periodic fever syndromes has been unraveled, and through research into the pathophysiology, a clearer picture of the innate immune system is emerging. After an introduction on fever, interleukin-1β and inflammasomes, which are involved in the majority of these diseases, this manuscript offers a detailed review of the pathophysiology of the cryopyrin-associated periodic syndromes, familial Mediterranean fever, the syndrome of pyogenic arthritis, pyoderma gangrenosum and acne, Blau syndrome, TNF-receptor-associated periodic syndrome and hyper-IgD and periodic fever syndrome. Despite recent major advances, there are still many questions to be answered regarding the pathogenesis of these disorders.
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Dissertations / Theses on the topic "Hereditary Syndromes"

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Schrader, Kasmintan Alexandra. "Characterization of hereditary cancer syndromes." Thesis, University of British Columbia, 2013. http://hdl.handle.net/2429/44512.

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Hereditary cancer syndromes predispose to early-onset or multiple cancers in a person or family, follow Mendelian inheritance patterns and demonstrate stereotyped patterns of tumor development. Genotype-phenotype correlations direct clinical genetic testing and provide guidance for hereditary cancer management. This thesis began by examining the association of lobular breast cancer with germline mutations in CDH1, the gene encoding the epithelial cell-cell adhesion molecule E-cadherin and tested whether CDH1 represented a high-frequency breast cancer susceptibility gene, apart from its association with hereditary diffuse gastric cancer. In addition it examined other genotype-phenotype correlations including the association between granular cell tumors and a multiple congenital anomaly syndrome, the specific correlation between a recurrent somatic mutation in a transcription factor and adult-type granulosa cell tumors and the strong association of germline BRCA1 and BRCA2 mutations with high-grade serous epithelial ovarian cancer. These candidate gene analyses were performed using low-throughput molecular technologies. With the advent of cheaper DNA-sequencing capabilities, the application of these new technologies to novel Mendelian disease gene discovery and hereditary cancer management became the subsequent focus of the thesis. Objectives: To determine the frequency of germline CDH1 mutations in women with lobular breast cancer unselected for familial gastric cancer; to define the associations between several alternative genotype-phenotype correlations; and, to apply next-generation sequencing to determine the basis of a Mendelian disorder, in order to determine its utility as a potential familial cancer gene discovery and clinical tool. Selected Methods: Single amplicon mutation screening and sequence analysis of a large cohort of women with early-onset or familial lobular breast cancer. Next-generation sequencing analysis of a family with multiple individuals cosegregating spondyloepiphyseal dysplasia and retinitis pigmentosa. Results: Without a selective history of diffuse gastric cancer, potentially pathogenic germline mutations in CDH1 occured in women with early-onset or hereditary lobular breast cancer in less than two percent of individuals. Diagnosis of a Mucolipidosis type III gamma was possible using new sequencing technologies. Conclusion: There is utility in understanding genotype-phenotype correlations in order to direct genetic testing and novel gene identification. Next-generation sequencing technologies can succesfully be applied to Mendelian disorders with clear phenotypes for gene discovery.
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Moisio, Anu-Liisa. "Predisposing and modifying genes in hereditary colorectal cancer syndromes." Helsinki : University of Helsinki, 2002. http://ethesis.helsinki.fi/julkaisut/laa/kliin/vk/moisio/.

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Awad, Fawaz. "Pathophysiology of hereditary recurrent fever syndromes : cellular and molecular approaches." Thesis, Paris 6, 2014. http://www.theses.fr/2014PA066394.

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Les fièvres récurrentes héréditaires (FRH) sont des maladies auto-inflammatoires transmises selon un mode mendélien. Elles se caractérisent par des accès fébriles récurrents spontanément résolutifs accompagnés d'une inflammation systémique et d'une atteinte des séreuses. La complication la plus grave réside dans le risque de survenue d'une amylose inflammatoire, essentiellement rénale. Le diagnostic clinique des FRH est difficile à établir du fait d'une part d'une grande variabilité inter et intra familiale des phénotypes complexes qui peuvent combiner des signes évocateurs de plusieurs FRH, et d'autre part de l'absence, dans la majorité des cas, de critères objectifs de diagnostic. Alors que le diagnostic de certitude repose essentiellement sur l'identification de défauts moléculaires dans des gènes de l'immunité innée (comme NLRP3, NLRP12, ou MEFV), ces mutations ne rendent compte de la pathologie que chez moins de 30% des cas. Le retentissement fonctionnel de ces variations de séquence, qui sont essentiellement des mutations faux-sens, souvent conservatives, n'a été étudié que dans des lignées cellulaires qui n'expriment pas plusieurs acteurs clés de l'inflammasome, un complexe multiprotéique activé chez les patients présentant une FRH. Au cours de cette thèse, nous avons développé un modèle cellulaire pertinent des FRH à partir de cultures primaires de macrophages humains, dans le but d'étudier les conséquences fonctionnelles des mutations identifiées dans les gènes de FRH et de caractériser les réseaux moléculaires auxquels appartiennent les protéines codées par ces gènes. En parallèle, nous avons cherché à identifier de nouveaux gènes impliqués dans les FRH
Hereditary recurrent fevers (HRF) define a group of auto-inflammatory diseases transmitted in a Mendelian fashion. They are characterized by recurrent episodes of fever spontaneously resolved, accompanied by systemic inflammation, usually revealed by sterile arthritis, peritonitis, and/or pleurisy. The most serious complication in HRFs is the risk of inflammatory amyloidosis, mainly renal. The clinical diagnosis of HRF is challenging due on the one hand to the inter- and intra- family variability and to complex phenotypes, which combine signs suggestive of different HRFs, and on the other hand, to the absence of objective diagnostic criteria in the majority of cases. While definitive diagnosis is mainly based on the identification of molecular defects in genes of innate immunity (as NLRP3, NLRP12 or MEFV), mutations in these genes account for the pathology in a limited number of patients (30% of cases in our experience). The functional impact of these sequence variations, which are mainly conserved missense mutations, has been studied mainly in heterologous cell lines that do not express several key players of the inflammasome, a multiprotein complex active in patients with HRF. In this thesis, we developed a physiologically relevant cell model of HRF using primary human macrophages in order to assess the functional consequences of the disease-causing mutations and to characterize the molecular networks to which the involved proteins belong. In parallel, we sought to identify novel genes involved in HRF
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Pollard, Patrick John. "Genetic and functional analysis of tumourigenesis in hereditary leiomyomatosis and renal cell cancer and hereditary paragangliomatosis syndromes." Thesis, University College London (University of London), 2006. http://discovery.ucl.ac.uk/1446046/.

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Hereditary leiomyomatosis and renal cell cancer (HLRCC) and hereditary paragangliomatosis (HPGL) are familial cancer syndromes, caused by germline mutations in genes encoding the Tricarboxylic Acid Cycle (TCAC) enzymes fumarate hydratase (FH) and succinate dehydrogenase (SDH) respectively. Both FH and SDH function as tumour-suppressor genes and the conditions are inherited as autosomal dominant traits. Germline FH mutations predispose individuals to develop benign smooth muscle tumours of the skin and uterus (leiomyomas) and renal carcinoma, whilst individuals with mutations in SDHB, -C, and -D develop paragangliomas and phaeochromocytomas. In order to study the genetic and functional consequences of FH and SDH mutations, and to elucidate mechanisms of tumourigenesis, which are poorly understood, I have undertaken a comprehensive analysis of tumours from both HPGL and HLRCC patients, using gene and protein expression analysis, metabolomic profiling and cytogenetic analysis of HPGL tumours. Tumours from both syndromes over- express hypoxia-inducible factor-alpha (HIFla), the central signalling protein in hypoxia, and HIFIa-target genes including vascular endothelial growth factor (VEGF) and Bcl-2/adenovirus E1B 19 kDa-interacting protein 3 (BNIP3). HLRCC and HPGL tumours accumulate the TCAC intermediates succinate and fumarate which have been shown to up-regulate HIFla in vitro by inhibiting the prolyl hydroxylases (PHD) that target HIFlct for proteosomal degradation. Therefore, 'pseudo-hypoxia' - the constitutive expression of HIFla in normoxic conditions - is likely to contribute largely to the tumourigenesis of HLRCC and HPGL and is most likely to occur as a direct result of accumulation of TCAC intermediates and PHD inhibition. To further investigate the tumourigenesis of HLRCC, I have successfully created a conditional Fhl (the mouse homologue of human FH) mouse knockout which causes hypertrophy when targeted to smooth muscle. I aim to create further temporal and tissue specific knockouts of Fhl, and if these mice develop tumours provide a model of HLRCC for the testing of anti-cancer drugs and therapies.
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Nizialek, Emily A. "KLLN as Tumor Suppressor in Cowden Syndrome and Sporadic Breast Cancers." Case Western Reserve University School of Graduate Studies / OhioLINK, 2014. http://rave.ohiolink.edu/etdc/view?acc_num=case1409778932.

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Martin, P. (Paula). "Type IV collagen:characterization of the COL4A5 gene, mutations in Alport syndrome, and autoantibodies in Alport and Goodpasture syndromes." Doctoral thesis, University of Oulu, 2000. http://urn.fi/urn:isbn:9514256867.

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Abstract Type IV collagen is only found in basement membranes, where it is the major structural component, providing a framework for the binding of other basement membrane components and a substratum for cells. The type IV collagen molecule is triple-helical and composed of three a chains which exist as six distinct forms (α1 - α6). Abnormalities in this basement membrane collagen structure and function are connected to both inherited and acquired diseases. Alport syndrome is a hereditary kidney disease associated with extrarenal complications, such as sensorineural deafness and eye abnormalities. The disease is caused by mutations in the COL4A3, COL4A4 and COL4A5 genes, coding for the type IV collagen α3, α4 and α5 chain genes, respectively. About 85% of the Alport syndrome cases are X-linked dominant, caused by mutations in the COL4A5 gene. In order to develop a basis for automated mutation analysis of the COL4A5 gene, previously unknown intron sequences flanking exons 2 and 37 were determined. Intron sequences flanking the other 49 exons were expanded from 35 to 190, and additionally, two novel 9 bp exons (exons 41A and 41B) were characterized in the large intron 41. In addition to optimization of the PCR amplification and sequencing conditions for all 51 exons and exon flanking sequences, optimization for the 820 bp promoter region and for the two novel exons was performed as well. Mutations were found in 79 unrelated patients of the 107 studied. This gives a high mutation detection rate of almost 75% in comparison with 50%, at its best, in other extensive mutation analyses of the COL4A5 gene using SSCP analysis. None of the mutations involved the promoter region or exons 41A and 41B. Circulating antibodies against basement membrane components have been recognized in some autoimmune diseases. Goodpasture syndrome is a rare autoimmune disease characterized by progressive glomerulonephritis and pulmonary hemorrhage. The target of the antibodies in this disease has been shown to be the noncollagenous NC1 domain of type IV collagen α3 chain. For unknown reasons, a minority of Alport syndrome patients also develops antibodies against α3 and α5 chains after renal transplantation with manifestation of severe anti-GBM disease. In order to investigate the antibodies both in Goodpasture and Alport syndrome, the NC1 domains of all six type IV collagen chains were produced as recombinant proteins in bacterial and mammalian expression systems, and an ELISA method was developed for antibody detection. Antibodies were found in both syndromes, interestingly also in Alport syndrome patients without the anti-GBM disease. The results of this work have a significant clinical value by providing for the first time complete, effective DNA-based analysis of all exon/intron and promoter regions of the COL4A5 gene in Alport syndrome.
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Green, Jane S. "Development, implementation and evaluation of clinical and genetic screening programs for hereditary tumour syndromes." Thesis, National Library of Canada = Bibliothèque nationale du Canada, 1996. http://www.collectionscanada.ca/obj/s4/f2/dsk3/ftp04/nq25771.pdf.

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Santos, João Paulo Franco dos. "Prevalência de critérios para avaliação genética em pacientes com câncer de mama atendidos no hospital universitário de Santa Maria." reponame:Biblioteca Digital de Teses e Dissertações da UFRGS, 2016. http://hdl.handle.net/10183/143202.

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Objetivo: Até 10% dos casos de câncer de mama estão associados com uma síndrome genética de predisposição ao câncer. A identificação de possíveis portadores dessas síndromes e o consequente encaminhamento para aconselhamento genético permitem a adoção de estratégias direcionadas de prevenção e rastreamento capazes de diminuir morbidade e mortalidade. O objetivo do presente estudo foi avaliar a proporção de pacientes com câncer de mama atendidos no Hospital Universitário de Santa Maria (HUSM) que necessitariam ser encaminhados para avaliação genética. Métodos: Pacientes com câncer de mama que iniciaram tratamento oncológico no HUSM durante o ano de 2014 foram considerados elegíveis. Uma entrevista foi conduzida com cada paciente para coleta de dados e exame físico dirigido. O questionário FSH-7 (Family Story Screening 7) e os critérios do NCCN (National Comprehensive Cancer Network) foram utilizados para identificar os pacientes que deveriam ser encaminhados para avaliação genética. Estes pacientes foram então avaliados quanto à indicação de teste genético - de acordo com as recomendações do NCCN para teste genético – e à probabilidade de mutações nos genes BRCA1 e BRCA2 através de modelos de predição de risco (BOADICEA, Penn II, sistema de escore de Manchester e tabelas da Myriad). Resultados: Dentre os 114 participantes do estudo, 65 (57%) preenchiam critérios de encaminhamento para avaliação genética de acordo com as diretrizes do NCCN. O questionário FHS-7 apresentou uma sensibilidade de 90% para identificar estes pacientes, com uma especificidade de 85%. A presença de história pessoal ou familiar de câncer de mama antes dos 50 anos foi o critério mais comum para indicar avaliação genética. Em relação aos testes genéticos, 52 pacientes (45%) deveriam ser testados para mutações nos genes BRCA1 e BRCA2 e 4 pacientes (3,5%) possuíam indicação de teste para mutações em TP53, de acordo com as recomendações do NCCN. Utilizando os modelos de predição de risco, 10,2% a 57,1% dos pacientes apresentavam uma probabilidade ≥ 10% de mutações em BRCA1 ou BRCA2. Conclusão: Este estudo revelou que a maioria dos pacientes com câncer de mama atendidos no HUSM possui indicação de encaminhamento para avaliação genética. A utilização de um questionário simples e rápido poderia identificar 90% destes pacientes.
Objective: Up to 10% of breast cancers are associated with a hereditary cancer syndrome. The identification of possible carriers of these syndromes and the subsequent referral for genetic counselling allow the adoption of tailored screening and prevention strategies capable of reducing morbidity and mortality. The aim of this study is to assess the proportion of patients with breast cancer treated at the University Hospital of Santa Maria (HUSM) that would need to be referred for genetic evaluation. Methods: Breast cancer patients who began cancer treatment at HUSM during the year 2014 were eligible. An interview was conducted with each patient for data collection and targeted physical examination. The FSH-7 (Family Story Screening 7) questionnaire and the NCCN (National Comprehensive Cancer Network) criteria were used to identify patients who should be referred for genetic evaluation. Then these patients were assessed for genetic testing criteria - according to the NCCN recommendations for genetic testing - and the likelihood of BRCA1 and BRCA2 mutations through risk prediction models (BOADICEA, Penn II, Manchester score system and Myriad tables). Results: Among the 114 study participants, 65 (57%) meet referral criteria for genetic evaluation according to the NCCN guidelines. The FHS-7 questionnaire showed a sensitivity of 90% to identify such patients with a specificity of 85%. The presence of personal or family history of breast cancer before age 50 was the most common criteria to indicate genetic evaluation. With respect to genetic testing, 52 patients (45%) should be tested for BRCA1 and BRCA2 mutations and 4 patients (3.5%) had test indication for TP53 mutations in accordance with the recommendations of the NCCN. Using risk prediction models, 10.2% to 57.1% of patients had a BRCA1 or BRCA2 mutations probability ≥ 10%. Conclusion: This study showed that most of the patients with breast cancer treated at HUSM have referral indication for genetic evaluation. The use of a fast and simple questionnaire could identify 90% of these patients.
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Gauerke, Jennifer Leigh. "Genetic Evaluation of Patients and Families with Concern for Hereditary Tumor Syndromes within the OSU James Multidisciplinary Neuroendocrine/Thyroid Cancer." The Ohio State University, 2019. http://rave.ohiolink.edu/etdc/view?acc_num=osu1555086532080802.

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Yehia, Lamis. "Novel Role of SEC23B as a Cancer Susceptibility Gene in Cowden Syndrome and Apparently Sporadic Thyroid Cancer." Case Western Reserve University School of Graduate Studies / OhioLINK, 2018. http://rave.ohiolink.edu/etdc/view?acc_num=case1512647647672648.

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Books on the topic "Hereditary Syndromes"

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Jatoi, Ismail. Hereditary cancer syndromes. Philadelphia: Saunders, 2008.

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Gorlin, Robert J. Hereditary hearing loss and its syndromes. New York: Oxford University Press, 1995.

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Familial and hereditary tumors. Berlin: Springer-Verlag, 1994.

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Inherited cancer syndromes: Current clinical management. 2nd ed. New York: Springer, 2011.

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Ho, Chuong. Molecular diagnosis for hereditary cancer predisposing syndromes: Genetic testing and clinical impact. Ottawa: Canadian Coordinating Office for Health Technology Assessment, 2003.

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service), Wiley InterScience (Online, ed. Hereditary tumors: From genes to clinical consequences. Weinheim: Wiley-VCH, 2009.

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Genetics in anesthesiology: Syndromes and science. Boston: Butterworth-Heinemann, 1996.

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E, O'Flaherty Jennifer, ed. Anesthesia for genetic, metabolic, and dysmorphic syndromes of childhood. Philadelphia: Lippincott Williams & Wilkins, 1999.

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E, O'Flaherty Jennifer, ed. Anesthesia for genetic, metabolic, and dysmorphic syndromes of childhood. 2nd ed. Philadelphia, PA: Lippincott Williams & Wilkins, 2007.

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Hodgson, S. V. A practical guide to human cancer genetics. Cambridge [England]: Cambridge University Press, 1993.

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Book chapters on the topic "Hereditary Syndromes"

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Ngeow, Joanne, Eliza Courtney, Kiat Hon Lim, and Charis Eng. "Hamartomatous Polyposis Syndromes." In Hereditary Colorectal Cancer, 165–83. Cham: Springer International Publishing, 2018. http://dx.doi.org/10.1007/978-3-319-74259-5_13.

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Metze, Dieter, Vanessa F. Cury, Ricardo S. Gomez, Luiz Marco, Dror Robinson, Eitan Melamed, Alexander K. C. Leung, et al. "Hereditary Proteinuria Syndromes." In Encyclopedia of Molecular Mechanisms of Disease, 832. Berlin, Heidelberg: Springer Berlin Heidelberg, 2009. http://dx.doi.org/10.1007/978-3-540-29676-8_6413.

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Carethers, J. M. "Hereditary Polyposis Syndromes." In Gastrointestinal and Liver Tumors, 125–41. Berlin, Heidelberg: Springer Berlin Heidelberg, 2004. http://dx.doi.org/10.1007/978-3-642-18629-5_10.

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Gala, Manish, and Daniel C. Chung. "Hereditary CRC Syndromes." In Intestinal Tumorigenesis, 1–28. Cham: Springer International Publishing, 2015. http://dx.doi.org/10.1007/978-3-319-19986-3_1.

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Brzezinski, Jack, Cheryl Shuman, and Rosanna Weksberg. "Hereditary Overgrowth Syndromes." In The Hereditary Basis of Childhood Cancer, 163–88. Cham: Springer International Publishing, 2021. http://dx.doi.org/10.1007/978-3-030-74448-9_7.

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Nielsen, Maartje, and Stephan Aretz. "Adenomatous Polyposis Syndromes: NTHL1-Associated Polyposis / Tumor Syndrome." In Hereditary Colorectal Cancer, 149–53. Cham: Springer International Publishing, 2018. http://dx.doi.org/10.1007/978-3-319-74259-5_10.

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Porteous, Mary E. M., and Jonathan N. Berg. "Hereditary Hemorrhagic Telangiectasia." In Management of Genetic Syndromes, 429–40. Hoboken, NJ, USA: John Wiley & Sons, Inc., 2010. http://dx.doi.org/10.1002/9780470893159.ch29.

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Grubbs, Elizabeth G., Roberto J. Manson, and Kirk A. Ludwig. "Hereditary Nonpolyposis Colorectal Cancer." In Inherited Cancer Syndromes, 166–88. New York, NY: Springer New York, 2004. http://dx.doi.org/10.1007/0-387-21596-4_7.

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Ballester-Vargas, Veroushka, and Ian Tomlinson. "Hereditary Mixed Polyposis Syndrome." In Intestinal Polyposis Syndromes, 165–71. Cham: Springer International Publishing, 2016. http://dx.doi.org/10.1007/978-3-319-28103-2_10.

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Santillan, Alfredo A., Jeffrey M. Farma, Ramona Hagmaier, Charles E. Cox, and Adam I. Riker. "Hereditary Breast Cancer Syndromes." In Inherited Cancer Syndromes, 51–104. New York, NY: Springer New York, 2010. http://dx.doi.org/10.1007/978-1-4419-6821-0_4.

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Conference papers on the topic "Hereditary Syndromes"

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Samadder, N. Jewel. "Abstract IA11: Chemoprevention in hereditary GI cancer syndromes." In Abstracts: AACR Special Conference: Colorectal Cancer: From Initiation to Outcomes; September 17-20, 2016; Tampa, FL. American Association for Cancer Research, 2017. http://dx.doi.org/10.1158/1538-7445.crc16-ia11.

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Carranza, Claudia L., Mariela Guerra, Claudia Osorio, Vanessa Zamora, Vivian Herrera, Jose Gil, and Luis Alvarez. "Abstract 4166: Hereditary cancer syndromes in Guatemalan population." 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.sabcs18-4166.

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Carranza, Claudia L., Mariela Guerra, Claudia Osorio, Vanessa Zamora, Vivian Herrera, Jose Gil, and Luis Alvarez. "Abstract 4166: Hereditary cancer syndromes in Guatemalan population." 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.am2019-4166.

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Malkin, David, Anita Villani, and Jonathan Wasserman. "Abstract CN10-01: Tumor surveillance strategies in pediatric hereditary cancer predisposition syndromes." In Abstracts: Thirteenth Annual AACR International Conference on Frontiers in Cancer Prevention Research; September 27 - October 1, 2014; New Orleans, LA. American Association for Cancer Research, 2015. http://dx.doi.org/10.1158/1940-6215.prev-14-cn10-01.

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Broekmans, A. W., F. J. M. der Meer, and K. Briët. "TREATMENT OF CONGENITAL THROMBOTIC SYNDROMES." In XIth International Congress on Thrombosis and Haemostasis. Schattauer GmbH, 1987. http://dx.doi.org/10.1055/s-0038-1643718.

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Abstract:
Hereditary antithrombin III deficiency,protein C deficiency, and protein S deficiency predispose to the occurrence of venous thrombotic disease at a relatively youngage and often without an apparent cause. These disorders inherit as an autosomal dominant trait. Heterozygotes are at risk fosuperficial thrombophlebitis, thrombosis atnearly every venous site, and pulmonary embolism. Homozygous protein C deficiency may present itself with a purpura fulminans syndrome shortly after birth.In the acute phase of venous thromboembolism heparin is effective for preventing extension of the thrombotic process, and pulmonary embolism. In patients with antithrombin III deficiency the concomittant useof antithrombin III concentrate is controversial, although some patients may requirehigher doses of heparin.Substitution therapy is only indicated in homozygous protein C deficient patientswith purpura fulminans. Fresh frozen plasma i.v. is the treatment of choice, in a dosage of 10 ml/kg once or twice daily. The current prothrombin complex concentrates may induce new skin lesions and disseminated intravascular coagulation. After the lesions have been healed(mostly in 4 to6 weeks)coumarin therapy may effectively prevent new episodes of purpura fulminans, provided the prothrombin time is kept within 2,5 - 4,0 INR. Heparin is ineffective for preventing purpura fulminans due to homozygous protein C deficiency.The thrombotic manifestations in heterozygotes are effectively prevented by coumarin therapy. This is supported by the observation that patients may remain free of thrombosis during long-term treatment and may have recurrences shortly after the withdrawal of the coumarin drug. The therapeutic range for the prothrombin time should be within 2,0 - 4,0 INR, target value 3,0 INR. In the initial phase of oral anticoagulant therapy protein C deficient patients are prone to the development of coumarin induced hemorrhagic skin (tissue) necrosis.In the patients studied in Leiden, it occurred in about 3% of the treated patients. Heparin appears to be ineffective for the prevention of coumarin-induced skin necrosis; high loading doses of coumarin should be avoided and the prothrombin timeshouldbe checked dialy during the initial phase of oral anticoagulant treatment. Tissue necrosis may contribute to bleeding complications after fibrinolytic therapy, ashas been observed in two protein C deficient patients.In clinical situations with an increased risk for thrombosis such as surgery and pregnancy, heparin (in-low-doses) alone orin combination with coumarins have been used succesfully for the prevention of thrombosis. The need for antithrombin III concentrates in patients with hereditary antithrombin III deficiency in such situations is not substantiated.Although anabolic steroids are capable to increase the plasma concentrations of antithrombin III and of protein C in the respective deficiency states, its efficacy in preventing thrombotic episodes remains to be established.An optimal strategy for preventing thrombosis in congenital thrombotic syndromes is to identify still asymptomatic patients. In case of antithrombin III, protein C, and protein S deficiency this search is feasible. During risk situations for thrombosis patients are to be protected against the development of thrombosis.In Leiden pregnant women with one of the deficiencies are treated from the 14th week of pregnancy, initially with a shortacting coumarin drug, after the 34th week withheparin s.c. b.i.d. at therapeutic dosages,and after delivery coumarin therapy is reTnstituted during 6 weeks. The use of oralcontraceptives should be avoided, unlesspatients are under coumarin treatment. As long as deficient patients remain asymptomatic no antithrombotic treatment is indicated. After the first documented thromboticincident patients are treated indefinitelywith oral anticoagulants.
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Sanabria-Salas, María Carolina, Gonzalo Guevara, Ana Lucía Rivera, Antonio Huertas, Vilma Medina, Lina María Trujillo, Esperanza Peña, and Carolina Wiesner. "Abstract B058: Germline mutation spectrum in hereditary cancer syndromes in a Latin American population." In Abstracts: Twelfth AACR Conference on the Science of Cancer Health Disparities in Racial/Ethnic Minorities and the Medically Underserved; September 20-23, 2019; San Francisco, CA. American Association for Cancer Research, 2020. http://dx.doi.org/10.1158/1538-7755.disp19-b058.

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Więsik-Szewczyk, Ewa, Dariusz Soldacki, Beata Woska-Kuśnierz, Marcin Milchert, Aleksandra Matyja-Bednarczyk, Violetta Opoka-Winiarska, Stanisław Niemczyk, and Karina Jahnz-Rózyk. "AB1112 DIAGNOSTIC DELAY AND DAMAGE OF POLISH ADULT PATIENTS AFFECTED BY HEREDITARY AUTOINFLAMMATORY SYNDROMES." In Annual European Congress of Rheumatology, EULAR 2019, Madrid, 12–15 June 2019. BMJ Publishing Group Ltd and European League Against Rheumatism, 2019. http://dx.doi.org/10.1136/annrheumdis-2019-eular.4948.

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Toltzis, S., N. Casasanta, S. Lipinski, A. Marino, A. McHenry, N. Denduluri, P. Rodriguez, and R. Kaltman. "Abstract P1-07-21: Relationship between hereditary cancer syndromes and oncotype DX recurrence score." In Abstracts: 2017 San Antonio Breast Cancer Symposium; December 5-9, 2017; San Antonio, Texas. American Association for Cancer Research, 2018. http://dx.doi.org/10.1158/1538-7445.sabcs17-p1-07-21.

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Tsoulos, N., GN Tsaousis, E. Papadopoulou, K. Agiannitopoulos, G. Pepe, S. Kambouri, A. Apessos, et al. "Abstract P4-03-07: Analysis of hereditary cancer syndromes by using a panel of genes: Novel and multiple pathogenic mutations." 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-p4-03-07.

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Tsoulos, N., A. Apessos, K. Agiannitopoulos, G. Pepe, G. Tsaousis, S. Kambouri, DT Eniu, et al. "Abstract P3-03-03: Analysis of hereditary cancer syndromes by use of a panel of genes: More answers than questions." In Abstracts: 2017 San Antonio Breast Cancer Symposium; December 5-9, 2017; San Antonio, Texas. American Association for Cancer Research, 2018. http://dx.doi.org/10.1158/1538-7445.sabcs17-p3-03-03.

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