No evidence that protein truncating variants in BRIP1 are associated with breast cancer risk: implic...
No evidence that protein truncating variants in BRIP1 are associated with breast cancer risk: implications for gene panel testing
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Author / Creator
Easton, Douglas F , Lesueur, Fabienne , Decker, Brennan , Li, Jun , Allen, Jamie , Luccarini, Craig , Pooley, Karen A , Shah, Mitul , Dennis, Joe , Ahmad, Jamil , Thompson, Ella R , Pertesi, Maroulio , Voegele, Catherine , Mebirouk, Noura , Durand, Geoffroy , Forey, Nathalie , Luben, Robert N , Ahmed, Shahana , Baynes, Caroline , Beckman, Matthias W , Benitez, Javier , Van Den Berg, David , Blot, William J , Bogdanova, Natalia V , Bojesen, Stig E , Brenner, Hermann , Chang-Claude, Jenny , Chia, Kee Seng , Choi, Ji-Yeob , Conroy, Don M , Cox, Angela , Cross, Simon S , Czene, Kamila , Darabi, Hatef , Devilee, Peter , Eriksson, Mikael , Fasching, Peter A , Figueroa, Jonine , Flyger, Henrik , García-Closas, Montserrat , Giles, Graham G , González-Neira, Anna , Haiman, Christopher A , Hall, Per , Hart, Steven N , Hartman, Mikael , Hooning, Maartje J , Ito, Hidemi , Jakubowska, Anna , James, Paul A , John, Esther M , Johnson, Nichola , Kang, Daehee , Kosma, Veli-Matti , Kristensen, Vessela , Lambrechts, Diether , Lindblom, Annika , Long, Jirong , Lophatananon, Artitaya , Lubinski, Jan , Manoukian, Siranoush , Margolin, Sara , Matsuo, Keitaro , Mitchell, Gillian , Muir, Kenneth , Nevelsteen, Ines , Peterlongo, Paolo , Pylkäs, Katri , Schmutzler, Rita K , Shen, Chen-Yang , Shu, Xiao-Ou , Southey, Melissa C , Swerdlow, Anthony , Teo, Soo H , Tomlinson, Ian , Torres, Diana , Vachon, Celine , Verhoef, Senno , Zheng, Wei , Zheng, Ying , Nevanlinna, Heli , Scott, Rodney J , Hopper, John L , Couch, Fergus J , Winqvist, Robert , Burwinkel, Barbara , Sawyer, Elinor J , Schmidt, Marjanka K , Rudolph, Anja , Dörk, Thilo , Brauch, Hiltrud , Hamann, Ute , Milne, Roger L , Fletcher, Olivia , Pharoah, Paul D P , Campbell, Ian G , Le Calvez-Kelm, Florence , Goldgar, David E , Tavtigian, Sean V , Chenevix-Trench, Georgia , Australian Ovarian Cancer Study Group , kConFab Investigators , Lifepool Investigators and NBCS Investigators
Publisher
England: BMJ Publishing Group LTD
Journal title
Language
English
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Publication information
Publisher
England: BMJ Publishing Group LTD
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More information
Scope and Contents
Contents
BackgroundBRCA1 interacting protein C-terminal helicase 1 (BRIP1) is one of the Fanconi Anaemia Complementation (FANC) group family of DNA repair proteins. Biallelic mutations in BRIP1 are responsible for FANC group J, and previous studies have also suggested that rare protein truncating variants in BRIP1 are associated with an increased risk of br...
Alternative Titles
Full title
No evidence that protein truncating variants in BRIP1 are associated with breast cancer risk: implications for gene panel testing
Authors, Artists and Contributors
Author / Creator
Lesueur, Fabienne
Decker, Brennan
Li, Jun
Allen, Jamie
Luccarini, Craig
Pooley, Karen A
Shah, Mitul
Dennis, Joe
Ahmad, Jamil
Thompson, Ella R
Pertesi, Maroulio
Voegele, Catherine
Mebirouk, Noura
Durand, Geoffroy
Forey, Nathalie
Luben, Robert N
Ahmed, Shahana
Baynes, Caroline
Beckman, Matthias W
Benitez, Javier
Van Den Berg, David
Blot, William J
Bogdanova, Natalia V
Bojesen, Stig E
Brenner, Hermann
Chang-Claude, Jenny
Chia, Kee Seng
Choi, Ji-Yeob
Conroy, Don M
Cox, Angela
Cross, Simon S
Czene, Kamila
Darabi, Hatef
Devilee, Peter
Eriksson, Mikael
Fasching, Peter A
Figueroa, Jonine
Flyger, Henrik
García-Closas, Montserrat
Giles, Graham G
González-Neira, Anna
Haiman, Christopher A
Hall, Per
Hart, Steven N
Hartman, Mikael
Hooning, Maartje J
Ito, Hidemi
Jakubowska, Anna
James, Paul A
John, Esther M
Johnson, Nichola
Kang, Daehee
Kosma, Veli-Matti
Kristensen, Vessela
Lambrechts, Diether
Lindblom, Annika
Long, Jirong
Lophatananon, Artitaya
Lubinski, Jan
Manoukian, Siranoush
Margolin, Sara
Matsuo, Keitaro
Mitchell, Gillian
Muir, Kenneth
Nevelsteen, Ines
Peterlongo, Paolo
Pylkäs, Katri
Schmutzler, Rita K
Shen, Chen-Yang
Shu, Xiao-Ou
Southey, Melissa C
Swerdlow, Anthony
Teo, Soo H
Tomlinson, Ian
Torres, Diana
Vachon, Celine
Verhoef, Senno
Zheng, Wei
Zheng, Ying
Nevanlinna, Heli
Scott, Rodney J
Hopper, John L
Couch, Fergus J
Winqvist, Robert
Burwinkel, Barbara
Sawyer, Elinor J
Schmidt, Marjanka K
Rudolph, Anja
Dörk, Thilo
Brauch, Hiltrud
Hamann, Ute
Milne, Roger L
Fletcher, Olivia
Pharoah, Paul D P
Campbell, Ian G
Le Calvez-Kelm, Florence
Goldgar, David E
Tavtigian, Sean V
Chenevix-Trench, Georgia
Australian Ovarian Cancer Study Group
kConFab Investigators
Lifepool Investigators
NBCS Investigators
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_swepub_primary_oai_swepub_ki_se_506966
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_swepub_primary_oai_swepub_ki_se_506966
Other Identifiers
ISSN
0022-2593,1468-6244
E-ISSN
1468-6244
DOI
10.1136/jmedgenet-2015-103529
