Analysis of more than 400,000 women provides case-control evidence for BRCA1 and BRCA2 variant class...
Analysis of more than 400,000 women provides case-control evidence for BRCA1 and BRCA2 variant classification
About this item
Full title
Author / Creator
kConFab Investigators , NBCS Collaborators , Zanti, Maria , O’Mahony, Denise G. , Parsons, Michael T. , Dorling, Leila , Dennis, Joe , Boddicker, Nicholas J. , Chen, Wenan , Hu, Chunling , Naven, Marc , Yiangou, Kristia , Ahearn, Thomas U. , Ambrosone, Christine B. , Andrulis, Irene L. , Antoniou, Antonis C. , Auer, Paul L. , Baynes, Caroline , Bodelon, Clara , Bogdanova, Natalia V. , Bojesen, Stig E. , Bolla, Manjeet K. , Brantley, Kristen D. , Camp, Nicola J. , Campbell, Archie , Castelao, Jose E. , Cessna, Melissa H. , Chang-Claude, Jenny , Chen, Fei , Chenevix-Trench, Georgia , Conroy, Don M. , Czene, Kamila , De Nicolo, Arcangela , Domchek, Susan M. , Dörk, Thilo , Dunning, Alison M. , Eliassen, A. Heather , Evans, D. Gareth , Fasching, Peter A. , Figueroa, Jonine D. , Flyger, Henrik , Gago-Dominguez, Manuela , García-Closas, Montserrat , Glendon, Gord , González-Neira, Anna , Grassmann, Felix , Hadjisavvas, Andreas , Haiman, Christopher A. , Hamann, Ute , Hart, Steven N. , Hartman, Mikael B. A. , Ho, Weang-Kee , Hodge, James M. , Hoppe, Reiner , Howell, Sacha J. , Jakubowska, Anna , Khusnutdinova, Elza K. , Ko, Yon-Dschun , Kraft, Peter , Kristensen, Vessela N. , Lacey, James V. , Li, Jingmei , Lim, Geok Hoon , Lindström, Sara , Lophatananon, Artitaya , Luccarini, Craig , Mannermaa, Arto , Martinez, Maria Elena , Mavroudis, Dimitrios , Milne, Roger L. , Muir, Kenneth , Nathanson, Katherine L. , Nuñez-Torres, Rocio , Obi, Nadia , Olson, Janet E. , Palmer, Julie R. , Panayiotidis, Mihalis I. , Patel, Alpa V. , Pharoah, Paul D. P. , Polley, Eric C. , Ruddy, Kathryn J. , Saloustros, Emmanouil , Sawyer, Elinor J. , Schmidt, Marjanka K. , Southey, Melissa C. , Tan, Veronique Kiak-Mien , Teo, Soo Hwang , Teras, Lauren R. , Truong, Thérèse , Vachon, Celine M. , Wang, Qin , Weitzel, Jeffrey N. , Yadav, Siddhartha , Yao, Song , Zirpoli, Gary R. , Cline, Melissa S. , Devilee, Peter , Tavtigian, Sean V. , Goldgar, David E. , Easton, Douglas F. , Spurdle, Amanda B. and Michailidou, Kyriaki
Publisher
London: Nature Publishing Group UK
Journal title
Language
English
Formats
Publication information
Publisher
London: Nature Publishing Group UK
Subjects
More information
Scope and Contents
Contents
Clinical genetic testing identifies variants causal for hereditary cancer, information that is used for risk assessment and clinical management. Unfortunately, some variants identified are of uncertain clinical significance (VUS), complicating patient management. Case-control data is one evidence type used to classify VUS. As an initiative of the E...
Alternative Titles
Full title
Analysis of more than 400,000 women provides case-control evidence for BRCA1 and BRCA2 variant classification
Authors, Artists and Contributors
Author / Creator
NBCS Collaborators
Zanti, Maria
O’Mahony, Denise G.
Parsons, Michael T.
Dorling, Leila
Dennis, Joe
Boddicker, Nicholas J.
Chen, Wenan
Hu, Chunling
Naven, Marc
Yiangou, Kristia
Ahearn, Thomas U.
Ambrosone, Christine B.
Andrulis, Irene L.
Antoniou, Antonis C.
Auer, Paul L.
Baynes, Caroline
Bodelon, Clara
Bogdanova, Natalia V.
Bojesen, Stig E.
Bolla, Manjeet K.
Brantley, Kristen D.
Camp, Nicola J.
Campbell, Archie
Castelao, Jose E.
Cessna, Melissa H.
Chang-Claude, Jenny
Chen, Fei
Chenevix-Trench, Georgia
Conroy, Don M.
Czene, Kamila
De Nicolo, Arcangela
Domchek, Susan M.
Dörk, Thilo
Dunning, Alison M.
Eliassen, A. Heather
Evans, D. Gareth
Fasching, Peter A.
Figueroa, Jonine D.
Flyger, Henrik
Gago-Dominguez, Manuela
García-Closas, Montserrat
Glendon, Gord
González-Neira, Anna
Grassmann, Felix
Hadjisavvas, Andreas
Haiman, Christopher A.
Hamann, Ute
Hart, Steven N.
Hartman, Mikael B. A.
Ho, Weang-Kee
Hodge, James M.
Hoppe, Reiner
Howell, Sacha J.
Jakubowska, Anna
Khusnutdinova, Elza K.
Ko, Yon-Dschun
Kraft, Peter
Kristensen, Vessela N.
Lacey, James V.
Li, Jingmei
Lim, Geok Hoon
Lindström, Sara
Lophatananon, Artitaya
Luccarini, Craig
Mannermaa, Arto
Martinez, Maria Elena
Mavroudis, Dimitrios
Milne, Roger L.
Muir, Kenneth
Nathanson, Katherine L.
Nuñez-Torres, Rocio
Obi, Nadia
Olson, Janet E.
Palmer, Julie R.
Panayiotidis, Mihalis I.
Patel, Alpa V.
Pharoah, Paul D. P.
Polley, Eric C.
Ruddy, Kathryn J.
Saloustros, Emmanouil
Sawyer, Elinor J.
Schmidt, Marjanka K.
Southey, Melissa C.
Tan, Veronique Kiak-Mien
Teo, Soo Hwang
Teras, Lauren R.
Truong, Thérèse
Vachon, Celine M.
Wang, Qin
Weitzel, Jeffrey N.
Yadav, Siddhartha
Yao, Song
Zirpoli, Gary R.
Cline, Melissa S.
Devilee, Peter
Tavtigian, Sean V.
Goldgar, David E.
Easton, Douglas F.
Spurdle, Amanda B.
Michailidou, Kyriaki
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_doaj_primary_oai_doaj_org_article_513fcd6f753c4858ab8e8aeb4d394115
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_513fcd6f753c4858ab8e8aeb4d394115
Other Identifiers
ISSN
2041-1723
E-ISSN
2041-1723
DOI
10.1038/s41467-025-59979-6
