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 (13) , Christi van Asperen (21) , Christian Singer (22) , Jan Sullivan , Nicola Poplawski (23) , Phuong Mai (24) , Julian Peto (25) , Nichola Johnson , Barbara Burwinkel (26) , Harald Surowy , Stig Bojesen , Henrik Flyger (27) , Annika Lindblom (28) , Sara Margolin , Jenny Chang-Claude (29) , Anja Rudolph , Paolo Radice (30) , Laura Galastri , Janet Olson , Emily Hallberg , Graham G Giles (13) , Roger L Milne (31) , Irene Andrulis (32) , Gord Glendon (33) , Per Hall (34) , Kamila Czene (34) , Fiona Blows , Mitul Shah , Qin Wang (35) , Joe Dennis , Kyriaki Michailidou , Lesley Mcguffog (36) , Manjeet Bolla , Antonis C. Antoniou (37) , Douglas F. Easton (37) , Fergus Couch (38) , Sean Tavtigian (39) , Maaike Vreeswijk (40) , Michael Parsons (41) , Huong Meeks , Alexandra Martins (2, 3) , David E. Goldgar (42) , Amanda Spurdle (43)

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 Clinical Genetics
22 Division of Special Gynecology
23 Metabolic Unit, Dept Clinical Chemistry
24 Division of Cancer Epidemiology and Genetics
25 Non-Communicable Disease Epidemiology Unit
26 Molecular Epidemiology Research Group
27 Department of Breast Surgery
28 Department of Clinical Genetics
29 Division of Cancer Epidemiology
30 Unit of Genetic Susceptibility to Cancer, Department of Experimental Oncology and Molecular Medici
31 Cancer Epidemiology Centre
32 Departments of Molecular Genetics and Laboratory Medicine and Pathobiology
33 Ontario Cancer Genetics Network
34 MEB - Department of Medical Epidemiology and Biostatistics
35 USTB - University of Science and Technology Beijing [Beijing]
36 Strangeways Research Laboratory
37 Cancer Research U.K. Genetic Epidemiology Unit
38 Department of Laboratory Medicine and Pathology
39 Department of Oncological Sciences
40 Center for Human and Clinical Genetics
41 UPPA - Université de Pau et des Pays de l'Adour
42 IACR - International Agency for Cancer Research
43 Queensland Institute of Medical Research

Domains: Life Sciences [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⟩