BRCA Share: A Collection of Clinical BRCA Gene Variants

Béroud, Christophe; Letovsky, Stanley; Braastad, Corey; Caputo, Sandrine M.; Beaudoux, Olivia; Bignon, Yves Jean; Paillerets, Brigitte Bressac-de; Bronner, Myriam; Buell, Crystal M.; Collod‐Béroud, Gwenaëlle; Coulet, Florence; Derive, Nicolas; DiVincenzo, Christina; Elzinga, Christopher; Garrec, Céline; Houdayer, Claude; Karbassi, Izabela; Lizard, Sarab; Love, Angela; Muller, Danièle; Nagan, Narasimhan; Nery, Camille; Rai, Ghadi; Révillion, Françoise; Salgado, David; Sévenet, Nicolas; Sinilnikova, Olga M.; Sobol, Hagay; Stoppa‐Lyonnet, Dominique; Toulas, Christine; Trautman, Edwin; Vaur, Dominique; Vilquin, Paul; Weymouth, Katelyn S.; Willis, Alecia; Eisenberg, Marcia; Strom, Charles M.

doi:10.1002/humu.23113

Cited by 59 publications

(43 citation statements)

References 52 publications

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“…nation of BRCA1 translation 47 codons later (38)(39)(40). A nonsense mutation in exon 15 of BRCA1 gene was identified in patient 9: c.4566C > G (p.Tyr1522Ter).…”

Section: Discussionmentioning

confidence: 99%

“…She had a personal history of breast cancer at age 42 and epithelial ovarian cancer at age 43, a sister with breast cancer at age 40, and a paternal aunt with breast cancer at age 42. This patient carried a C > G substitution at position 4566, which led to the premature termination of BRCA1 translation (38,39,41). A splicing mutation in intron 18 of BRCA1 gene was identified in patient 3: c.5153-26A > G. She had a personal history of breast cancer at age 30, and her mother was diagnosed with breast cancer at age 58 and epithelial ovarian cancer at age 59.…”

Section: Discussionmentioning

confidence: 99%

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Analysis of BRCA1/2 Mutations and Performance of Manchester Scoring System in High Risk Iranian Breast Cancer Patients: A Pilot Study

et al. 2017

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Background: Breast cancer is the most frequent malignancy in Iranian women. Pathogenic mutations in BRCA1 and BRCA2 genes account for 20% to 25% of familial breast cancer. BRCA1 and BRCA2 mutation frequencies differ considerably among various geographic regions and ethnicities. Most studies have primarily used Caucasian populations to delineate the population and family risks associated with germline BRCA1 and BRCA2 mutations, leaving patients of other ancestries understudied. As genetic testing for BRCA1 and BRCA2 mutations is underused in Iran, it is of great importance to be able to describe the mutation spectrum of these genes and subsequently the genetic risks and testing benefits particular to Iranian population. Methods: We designed a pilot study to identify the full spectrum of BRCA1 and BRCA2 sequence variations and large single or multiexonic deletions in 20 Iranian breast cancer patients with a high likelihood of hereditary predisposition to breast cancer. Manchester score, as a validated scoring system for the probability of carrying a BRCA1/2 mutation, was calculated for all patients to determine the cut-off value for genetic testing in Iranian families. Assuming a Manchester score of 20 points as cut-off value to perform BRCA genetic testing, this scoring system has a sensitivity of 80%, specificity of 60%, positive predictive value (PPV) of 40%, and negative predictive value (NPV) of 90%. Conclusions: Considering the high cost of testing in Iran, it seems that that the cut-off value of 20 points is more appropriate.

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“…nation of BRCA1 translation 47 codons later (38)(39)(40). A nonsense mutation in exon 15 of BRCA1 gene was identified in patient 9: c.4566C > G (p.Tyr1522Ter).…”

Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Analysis of BRCA1/2 Mutations and Performance of Manchester Scoring System in High Risk Iranian Breast Cancer Patients: A Pilot Study

et al. 2017

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“…Patenting DNA molecules and methods had become common at universities and biotechnology and pharmaceutical companies, a practice that in the 1980s and 1990s often conflicted with more traditionally minded academic biologists not used to patenting their work (17; 36; 130). One of the foremost patent scholars, Rebecca Eisenberg of the University of Michigan Law School, observed:

The patent system rests on the premise that scientific progress will best be promoted by conferring exclusive rights in new discoveries, while the research scientific community has traditionally proceeded on the opposite assumption that science will advance most rapidly if the community enjoys free access to prior discoveries.

…”

Section: Emergence Of the Bermuda Principles For Prepublication Data mentioning

confidence: 99%

“…In May of 2015, Quest announced it was contributing its data to the Universal Mutation Database (UMD) in Paris, where it would be well curated and interpreted (17; 112). Quest proposed that commercial labs pay for access to the UMD data and contribute to it, while researchers would have free access.…”

Section: Emergence Of the Global Alliance For Genomics And Healthmentioning

confidence: 99%

Sharing Data to Build a Medical Information Commons: From Bermuda to the Global Alliance

Cook-Deegan

Ankeny

Jones

2017

Annu. Rev. Genom. Hum. Genet.

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The Human Genome Project modeled its open science ethos on nematode biology, most famously through daily release of DNA sequence data based on the 1996 Bermuda Principles. That open science philosophy persists, but daily, unfettered release of data has had to adapt to constraints occasioned by the use of data from individual people, broader use of data not only by scientists but also by clinicians and individuals, the global reach of genomic applications and diverse national privacy and research ethics laws, and the rising prominence of a diverse commercial genomics sector. The Global Alliance for Genomics and Health was established to enable the data sharing that is essential for making meaning of genomic variation. Data-sharing policies and practices will continue to evolve as researchers, health professionals, and individuals strive to construct a global medical and scientific information commons.

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“…Only win‐win approaches will be sustainable. The future may lie in public–private partnerships as illustrated by the successful BRCA‐Share™ initiative [Béroud et al, ], to improve the detection of inherited risk of breast and ovarian cancers.…”

Section: Conclusion: How Can We Work Together?mentioning

confidence: 99%

Actionable Genes, Core Databases, and Locus-Specific Databases

et al. 2016

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Adoption of next-generation sequencing (NGS) in a diagnostic context raises numerous questions with regard to identification and reports of secondary variants (SVs) in actionable genes. To better understand the whys and wherefores of these questioning, it is necessary to understand how they are selected during the filtering process and how their proportion can be estimated. It is likely that SVs are underestimated and that our capacity to label all true SVs can be improved. In this context, Locus-specific databases (LSDBs) can be key by providing a wealth of information and enabling classifying variants. We illustrate this issue by analyzing 318 SVs in 23 actionable genes involved in cancer susceptibility syndromes identified through sequencing of 572 participants selected for a range of atherosclerosis phenotypes. Among these 318 SVs, only 43.4% are reported in Human Gene Mutation Database (HGMD) Professional versus 71.4% in LSDB. In addition, 23.9% of HGMD Professional variants are reported as pathogenic versus 4.8% for LSDB. These data underline the benefits of LSDBs to annotate SVs and minimize overinterpretation of mutations thanks to their efficient curation process and collection of unpublished data.

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BRCA Share: A Collection of Clinical BRCA Gene Variants

Cited by 59 publications

References 52 publications

Analysis of BRCA1/2 Mutations and Performance of Manchester Scoring System in High Risk Iranian Breast Cancer Patients: A Pilot Study

Analysis of BRCA1/2 Mutations and Performance of Manchester Scoring System in High Risk Iranian Breast Cancer Patients: A Pilot Study

Sharing Data to Build a Medical Information Commons: From Bermuda to the Global Alliance

Actionable Genes, Core Databases, and Locus-Specific Databases

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