Literature DB >> 27633797

BRCA Share: A Collection of Clinical BRCA Gene Variants.

Christophe Béroud1,2, Stanley I Letovsky3, Corey D Braastad4, Sandrine M Caputo5, Olivia Beaudoux6, Yves Jean Bignon7, Brigitte Bressac-De Paillerets8, Myriam Bronner9, Crystal M Buell4, Gwenaëlle Collod-Béroud1, Florence Coulet10, Nicolas Derive5, Christina Divincenzo4, Christopher D Elzinga4, Céline Garrec11, Claude Houdayer5,12, Izabela Karbassi4, Sarab Lizard13, Angela Love4, Danièle Muller14, Narasimhan Nagan3, Camille R Nery15, Ghadi Rai1, Françoise Revillion16, David Salgado1, Nicolas Sévenet17, Olga Sinilnikova18, Hagay Sobol19, Dominique Stoppa-Lyonnet5,12, Christine Toulas20, Edwin Trautman3, Dominique Vaur21, Paul Vilquin22, Katelyn S Weymouth3, Alecia Willis23, Marcia Eisenberg23, Charles M Strom15.   

Abstract

As next-generation sequencing increases access to human genetic variation, the challenge of determining clinical significance of variants becomes ever more acute. Germline variants in the BRCA1 and BRCA2 genes can confer substantial lifetime risk of breast and ovarian cancer. Assessment of variant pathogenicity is a vital part of clinical genetic testing for these genes. A database of clinical observations of BRCA variants is a critical resource in that process. This article describes BRCA Share™, a database created by a unique international alliance of academic centers and commercial testing laboratories. By integrating the content of the Universal Mutation Database generated by the French Unicancer Genetic Group with the testing results of two large commercial laboratories, Quest Diagnostics and Laboratory Corporation of America (LabCorp), BRCA Share™ has assembled one of the largest publicly accessible collections of BRCA variants currently available. Although access is available to academic researchers without charge, commercial participants in the project are required to pay a support fee and contribute their data. The fees fund the ongoing curation effort, as well as planned experiments to functionally characterize variants of uncertain significance. BRCA Share™ databases can therefore be considered as models of successful data sharing between private companies and the academic world.
© 2016 WILEY PERIODICALS, INC.

Entities:  

Keywords:  BRCA1; BRCA2; NGS; breast cancer; genetic databases; ovarian cancer; variant classification

Mesh:

Substances:

Year:  2016        PMID: 27633797     DOI: 10.1002/humu.23113

Source DB:  PubMed          Journal:  Hum Mutat        ISSN: 1059-7794            Impact factor:   4.878


  25 in total

1.  Somatic mRNA Analysis of BRCA1 Splice Variants Provides a Direct Theranostic Impact on PARP Inhibitors.

Authors:  Louise-Marie Chevalier; Amandine Billaud; Sabrina Fronteau; Jonathan Dauvé; Anne Patsouris; Véronique Verriele; Alain Morel
Journal:  Mol Diagn Ther       Date:  2020-04       Impact factor: 4.074

Review 2.  Sharing Data to Build a Medical Information Commons: From Bermuda to the Global Alliance.

Authors:  Robert Cook-Deegan; Rachel A Ankeny; Kathryn Maxson Jones
Journal:  Annu Rev Genomics Hum Genet       Date:  2017-04-17       Impact factor: 8.929

3.  Classification of 101 BRCA1 and BRCA2 variants of uncertain significance by cosegregation study: A powerful approach.

Authors:  Sandrine M Caputo; Lisa Golmard; Mélanie Léone; Francesca Damiola; Marine Guillaud-Bataille; Françoise Revillion; Etienne Rouleau; Nicolas Derive; Adrien Buisson; Noémie Basset; Mathias Schwartz; Paul Vilquin; Celine Garrec; Maud Privat; Mathilde Gay-Bellile; Caroline Abadie; Khadija Abidallah; Fabrice Airaud; Anne-Sophie Allary; Emmanuelle Barouk-Simonet; Muriel Belotti; Charlotte Benigni; Patrick R Benusiglio; Christelle Berthemin; Pascaline Berthet; Ophelie Bertrand; Stéphane Bézieau; Marie Bidart; Yves-Jean Bignon; Anne-Marie Birot; Maud Blanluet; Amelie Bloucard; Johny Bombled; Valerie Bonadona; Françoise Bonnet; Marie-Noëlle Bonnet-Dupeyron; Manon Boulaire; Flavie Boulouard; Ahmed Bouras; Violaine Bourdon; Afane Brahimi; Fanny Brayotel; Brigitte Bressac de Paillerets; Noémie Bronnec; Virginie Bubien; Bruno Buecher; Odile Cabaret; Jennifer Carriere; Jean Chiesa; Stephanie Chieze-Valéro; Camille Cohen; Odile Cohen-Haguenauer; Chrystelle Colas; Marie-Agnès Collonge-Rame; Anne-Laure Conoy; Florence Coulet; Isabelle Coupier; Louise Crivelli; Véronica Cusin; Antoine De Pauw; Catherine Dehainault; Hélène Delhomelle; Capucine Delnatte; Sophie Demontety; Philippe Denizeau; Pierre Devulder; Helene Dreyfus; Catherine Dubois d'Enghein; Anaïs Dupré; Anne Durlach; Sophie Dussart; Anne Fajac; Samira Fekairi; Sandra Fert-Ferrer; Alice Fiévet; Robin Fouillet; Emmanuelle Mouret-Fourme; Marion Gauthier-Villars; Paul Gesta; Sophie Giraud; Laurence Gladieff; Veronica Goldbarg; Vincent Goussot; Virginie Guibert; Erell Guillerm; Christophe Guy; Agnès Hardouin; Céline Heude; Claude Houdayer; Olivier Ingster; Caroline Jacquot-Sawka; Natalie Jones; Sophie Krieger; Sofiane Lacoste; Hakima Lallaoui; Helene Larbre; Anthony Laugé; Gabrielle Le Guyadec; Marine Le Mentec; Caroline Lecerf; Jessica Le Gall; Bérengère Legendre; Clémentine Legrand; Angélina Legros; Sophie Lejeune; Rosette Lidereau; Norbert Lignon; Jean-Marc Limacher; Sarab Lizard; Michel Longy; Alain Lortholary; Pierre Macquere; Audrey Mailliez; Sarah Malsa; Henri Margot; Véronique Mari; Christine Maugard; Cindy Meira; Julie Menjard; Diane Molière; Virginie Moncoutier; Jessica Moretta-Serra; Etienne Muller; Zoe Nevière; Thien-Vu Nguyen Minh Tuan; Tetsuro Noguchi; Catherine Noguès; Florine Oca; Cornel Popovici; Fabienne Prieur; Sabine Raad; Jean-Marc Rey; Agathe Ricou; Lucie Salle; Claire Saule; Nicolas Sevenet; Fatoumata Simaga; Hagay Sobol; Voreak Suybeng; Isabelle Tennevet; Henrique Tenreiro; Julie Tinat; Christine Toulas; Isabelle Turbiez; Nancy Uhrhammer; Pierre Vande Perre; Dominique Vaur; Laurence Venat; Nicolas Viellard; Marie-Charlotte Villy; Mathilde Warcoin; Alice Yvard; Helene Zattara; Olivier Caron; Christine Lasset; Audrey Remenieras; Nadia Boutry-Kryza; Laurent Castéra; Dominique Stoppa-Lyonnet
Journal:  Am J Hum Genet       Date:  2021-09-30       Impact factor: 11.025

4.  HUMA: A platform for the analysis of genetic variation in humans.

Authors:  David K Brown; Özlem Tastan Bishop
Journal:  Hum Mutat       Date:  2017-10-17       Impact factor: 4.878

5.  Evaluation of a 27-gene inherited cancer panel across 630 consecutive patients referred for testing in a clinical diagnostic laboratory.

Authors:  Sabrina A Gardner; Katelyn S Weymouth; Wei S Kelly; Ekaterina Bogdanova; Wenjie Chen; Daniel Lupu; Joshua Suhl; Qiandong Zeng; Ute Geigenmüller; Debbie Boles; Patricia M Okamoto; Geraldine McDowell; Melissa A Hayden; Narasimhan Nagan
Journal:  Hered Cancer Clin Pract       Date:  2018-01-04       Impact factor: 2.857

6.  Identification of differentially methylated BRCA1 and CRISP2 DNA regions as blood surrogate markers for cardiovascular disease.

Authors:  Geoffrey Istas; Ken Declerck; Maria Pudenz; Katarzyna Szarc Vel Szic; Veronica Lendinez-Tortajada; Montserrat Leon-Latre; Karen Heyninck; Guy Haegeman; Jose A Casasnovas; Maria Tellez-Plaza; Clarissa Gerhauser; Christian Heiss; Ana Rodriguez-Mateos; Wim Vanden Berghe
Journal:  Sci Rep       Date:  2017-07-11       Impact factor: 4.379

7.  Detecting Disease Specific Pathway Substructures through an Integrated Systems Biology Approach.

Authors:  Salvatore Alaimo; Gioacchino Paolo Marceca; Alfredo Ferro; Alfredo Pulvirenti
Journal:  Noncoding RNA       Date:  2017-04-19

8.  Identification of Eight Spliceogenic Variants in BRCA2 Exon 16 by Minigene Assays.

Authors:  Eugenia Fraile-Bethencourt; Alberto Valenzuela-Palomo; Beatriz Díez-Gómez; Alberto Acedo; Eladio A Velasco
Journal:  Front Genet       Date:  2018-05-24       Impact factor: 4.599

9.  Identification of a Splice Variant (c.5074+3A>C) of BRCA1 by RNA Sequencing and TOPO Cloning.

Authors:  Jinyoung Hong; Ji Hyun Kim; Se Hee Ahn; Hyunjung Gu; Suhwan Chang; Woochang Lee; Dae-Yeon Kim; Sail Chun; Won-Ki Min
Journal:  Genes (Basel)       Date:  2021-05-26       Impact factor: 4.096

10.  The frequency of cancer predisposition gene mutations in hereditary breast and ovarian cancer patients in Taiwan: From BRCA1/2 to multi-gene panels.

Authors:  Pi-Lin Sung; Kuo-Chang Wen; Yi-Jen Chen; Ta-Chung Chao; Yi-Fang Tsai; Ling-Ming Tseng; Jian-Tai Timothy Qiu; Kuan-Chong Chao; Hua-Hsi Wu; Chi-Mu Chuang; Peng-Hui Wang; Chi-Ying F Huang
Journal:  PLoS One       Date:  2017-09-29       Impact factor: 3.240

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