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 Giles 13 Roger 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 Antoniou 38 Douglas Easton 38 Fergus Couch 39 Sean Tavtigian 40 Maaike Vreeswijk 41 Michael Parsons 42 Huong Meeks Alexandra Martins 2, 3 David Goldgar 43 Amanda Spurdle 44
27 Molecular Epidemiology Research Group
DKFZ - German Cancer Research Center - Deutsches Krebsforschungszentrum [Heidelberg]
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Soumis le : lundi 28 octobre 2019 - 16:48:53
Dernière modification le : vendredi 15 novembre 2019 - 14:50:09

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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, Oxford University Press (OUP), 2016, 25 (11), pp.2256-2268. ⟨10.1093/hmg/ddw094⟩. ⟨hal-02336165⟩

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