The BRCA2 c.68-7T > A variant is not pathogenic: A model for clinical calibration of spliceogenicity

Colombo, M., Lopez-Perolio, I., Meeks, H.D. et al. (112 more authors) (2018) The BRCA2 c.68-7T > A variant is not pathogenic: A model for clinical calibration of spliceogenicity. Human Mutation, 39 (5). pp. 729-741. ISSN 1059-7794

Abstract

Metadata

Authors/Creators:
  • Colombo, M.
  • Lopez-Perolio, I.
  • Meeks, H.D.
  • Caleca, L.
  • Parsons, M.T.
  • Li, H.
  • De Vecchi, G.
  • Tudini, E.
  • Foglia, C.
  • Mondini, P.
  • Manoukian, S.
  • Behar, R.
  • Garcia, E.B.G.
  • Meindl, A.
  • Montagna, M.
  • Niederacher, D.
  • Schmidt, A.Y.
  • Varesco, L.
  • Wappenschmidt, B.
  • Bolla, M.K.
  • Dennis, J.
  • Michailidou, K.
  • Wang, Q.
  • Aittomaki, K.
  • Andrulis, I.L.
  • Anton-Culver, H.
  • Arndt, V.
  • Beckmann, M.W.
  • Beeghly-Fadel, A.
  • Benitez, J.
  • Boeckx, B.
  • Bogdanova, N.V.
  • Bojesen, S.E.
  • Bonanni, B.
  • Brauch, H.
  • Brenner, H.
  • Burwinkel, B.
  • Chang-Claude, J.
  • Conroy, D.M.
  • Couch, F.J.
  • Cox, A. https://orcid.org/0000-0002-5138-1099
  • Cross, S.S.
  • Czene, K.
  • Devilee, P.
  • Dork, T.
  • Eriksson, M.
  • Fasching, P.A.
  • Figueroa, J.
  • Fletcher, O.
  • Flyger, H.
  • Gabrielson, M.
  • Garcia-Closas, M.
  • Giles, G.G.
  • Gonzalez-Neira, A.
  • Guenel, P.
  • Haiman, C.A.
  • Hall, P.
  • Hamann, U.
  • Hartman, M.
  • Hauke, J.
  • Hollestelle, A.
  • Hopper, J.L.
  • Jakubowska, A.
  • Jung, A.
  • Kosma, V.-M.
  • Lambrechts, D.
  • Le Marchand, L.
  • Lindblom, A.
  • Lubinski, J.
  • Mannermaa, A.
  • Margolin, S.
  • Miao, H.
  • Milne, R.L.
  • Neuhausen, S.L.
  • Nevanlinna, H.
  • Olson, J.E.
  • Peterlongo, P.
  • Peto, J.
  • Pylkas, K.
  • Sawyer, E.J.
  • Schmidt, M.K.
  • Schmutzler, R.K.
  • Schneeweiss, A.
  • Schoemaker, M.J.
  • See, M.H.
  • Southey, M.C.
  • Swerdlow, A.
  • Teo, S.H.
  • Toland, A.E.
  • Tomlinson, I.
  • Truong, T.
  • van Asperen, C.J.
  • van den Ouweland, A.M.W.
  • van der Kolk, L.E.
  • Winqvist, R.
  • Yannoukakos, D.
  • Zheng, W.
  • Dunning, A.M.
  • Easton, D.F.
  • Henderson, A.
  • Hogervorst, F.B.L.
  • Izatt, L.
  • Offitt, K.
  • Side, L.E.
  • van Rensburg, E.J.
  • McGuffog, L.
  • Antoniou, A.C.
  • Chenevix-Trench, G.
  • Spurdle, A.B.
  • Goldgar, D.E.
  • de la Hoya, M.
  • Radice, P.
  • Investigators, KConFab/AOCS.
  • EMBRACE, Study.
  • HEBON, Study.
Copyright, Publisher and Additional Information: © 2018 The Authors. Human Mutation published by Wiley Periodicals, Inc. This is an open access article under the terms of the Creative Commons Attribution License, which permits use, distribution and reproduction in any medium, provided the original work is properly cited.
Keywords: BRCA2; digital PCR; multifactorial likelihood analysis; quantitative real-time PCR; spliceogenic variants
Dates:
  • Published: May 2018
  • Published (online): 20 February 2018
  • Accepted: 10 February 2018
Institution: The University of Sheffield
Funding Information:
FunderGrant number
CANCER RESEARCH UKC9267/A25152
BREAST CANCER NOWTB2017SHEF
BREAST CANCER NOWDr Simon Vincent
Depositing User: Symplectic Sheffield
Date Deposited: 02 Jul 2018 10:43
Last Modified: 12 Apr 2019 10:11
Published Version: https://doi.org/10.1002/humu.23415
Status: Published
Publisher: Wiley
Refereed: Yes
Identification Number: https://doi.org/10.1002/humu.23415
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