Combined genetic and splicing analysis of BRCA1 c.[594-2A>C; 641A>G] highlights the relevance of naturally occurring in-frame transcripts for developing disease gene variant classification algorithms

Miguel de La Hoya (1) , Omar Soukarieh (2, 3) , Irene Lopez-Perolio (4) , Ana Vega (5) , Logan Walker (6) , Yvette van Ierland , Diana Baralle (7) , Marta Santamariña , Vanessa Lattimore (8) , Juul Wijnen (9) , Philip Whiley , Ana Blanco (5) , Michela Raponi (10) , Jan Hauke , Barbara Wappenschmidt (11) , Alexandra Becker , Thomas Hansen (12) , Raquel Behar (4) , Kconfab Investigators (13) , Diether Niederacher , Norbert Arnold (14) , Bernd Dworniczak , Doris Steinemann (15) , Ulrike Faust , Wendy Rubinstein , Peter Hulick , Claude Houdayer (16) , Sandrine Caputo (17) , Laurent Castéra (18, 3) , Tina Pesaran (19) , Elizabeth Chao , Carole Brewer (20) , Melissa Southey (21) , Christi van Asperen (22) , Christian Singer (23) , Jan Sullivan , Nicola Poplawski (24) , Phuong Mai (25) , Julian Peto (26) , Nichola Johnson , Barbara Burwinkel (27) , Harald Surowy , Stig Bojesen , Henrik Flyger (28) , Annika Lindblom (29) , Sara Margolin , Jenny Chang-Claude (30) , Anja Rudolph , Paolo Radice (31) , Laura Galastri , Janet Olson , Emily Hallberg , Graham G Giles (13) , Roger L Milne (32) , Irene Andrulis (33) , Gord Glendon (34) , Per Hall (35) , Kamila Czene (35) , Fiona Blows , Mitul Shah , Qin Wang (36) , Joe Dennis , Kyriaki Michailidou , Lesley Mcguffog (37) , Manjeet Bolla , Antonis C. Antoniou (38) , Douglas F. Easton (38) , Fergus Couch (39) , Sean Tavtigian (40) , Maaike Vreeswijk (41) , Michael Parsons (42) , Huong Meeks , Alexandra Martins (2, 3) , David E. Goldgar (43) , Amanda Spurdle (44)

1 Molecular Oncology Laboratory
2 GMFC - Génétique du cancer et des maladies neuropsychiatriques
3 GPMCND - Génomique et Médecine Personnalisée du Cancer et des Maladies Neuropsychiatriques
4 IdISSC - Instituto de Investigación Sanitaria del Hospital Clínico San Carlos [Madrid, Spain]
5 Fundación Pública Galega Medicina Xenómica-SERGAS & Grupo de Medicina Xenómica--USC
6 Division of Genetics and Population Health
7 Genetics
8 University of Otago [Dunedin, Nouvelle-Zélande]
9 Department of Clinical Genetics and GROM
10 Human Genetics Division [Southampton]
11 Division of Molecular Gyneco-Oncology, Department of Gynaecology and Obstetrics,
12 ILL - Institut Laue-Langevin
13 University of Melbourne
14 Division of Oncology, Department of Gynaecology and Obstetrics
15 Institute of Cell and Molecular Pathology
16 CHU Trousseau [APHP]
17 DIEP/DSV - DIEP/DSV
18 UNICANCER/CRLC - Centre Régional de Lutte contre le Cancer François Baclesse [Caen]
19 Ambry Genetics [Aliso Viejo, CA, USA]
20 Department of Clinical Genetics
21 Department of Pathology, The University of Melbourne, Melbourne, Victoria, Australia
22 Department of Clinical Genetics
23 Division of Special Gynecology
24 Metabolic Unit, Dept Clinical Chemistry
25 Division of Cancer Epidemiology and Genetics
26 Non-Communicable Disease Epidemiology Unit
27 Molecular Epidemiology Research Group
28 Department of Breast Surgery
29 Department of Clinical Genetics
30 Division of Cancer Epidemiology
31 Unit of Genetic Susceptibility to Cancer, Department of Experimental Oncology and Molecular Medici
32 Cancer Epidemiology Centre
33 Departments of Molecular Genetics and Laboratory Medicine and Pathobiology
34 Ontario Cancer Genetics Network
35 MEB - Department of Medical Epidemiology and Biostatistics
36 USTB - University of Science and Technology Beijing [Beijing]
37 Strangeways Research Laboratory
38 Cancer Research U.K. Genetic Epidemiology Unit
39 Department of Laboratory Medicine and Pathology
40 Department of Oncological Sciences
41 Center for Human and Clinical Genetics
42 UPPA - Université de Pau et des Pays de l'Adour
43 IACR - International Agency for Cancer Research
44 Queensland Institute of Medical Research

Domaines: Sciences du Vivant [q-bio]

Miguel de La Hoya, Omar Soukarieh, Irene Lopez-Perolio, Ana Vega, Logan Walker, et al.. Combined genetic and splicing analysis of BRCA1 c.[594-2A>C; 641A>G] highlights the relevance of naturally occurring in-frame transcripts for developing disease gene variant classification algorithms. Human Molecular Genetics, 2016, 25 (11), pp.2256-2268. ⟨10.1093/hmg/ddw094⟩. ⟨hal-02336165⟩