Easton, Douglas F., Lesueur, Fabienne ORCID: 0000-0001-7404-4549, Decker, Brennan ORCID: 0000-0003-4516-7421, Michailidou, Kyriaki ORCID: 0000-0001-7065-1237, Li, Jun ORCID: 0000-0003-1553-8105, Allen, Jamie ORCID: 0000-0002-8677-2225, Luccarini, Craig, Pooley, Karen A., Shah, Mitul, Bolla, Manjeet K., Wang, Qin, Dennis, Joe, Ahmad, Jamil, Thompson, Ella R., Damiola, Francesca ORCID: 0000-0002-0238-1252, Pertesi, Maroulio, Voegele, Catherine, Mebirouk, Noura, Robinot, Nivonirina, Durand, Geoffroy, Forey, Nathalie, Luben, Robert N., Ahmed, Shahana, Aittomaki, Kristiina, Anton-Culver, Hoda, Arndt, Volker ORCID: 0000-0001-9320-8684, Baynes, Caroline, Beckman, Matthias W., Benitez, Javier, Van Den Berg, David, Blot, William J., Bogdanova, Natalia V., Bojesen, Stig E., Brenner, Hermann ORCID: 0000-0002-6129-1572, Chang-Claude, Jenny, Chia, Kee Seng, Choi, Ji-Yeob, Conroy, Don M., Cox, Angela ORCID: 0000-0002-5138-1099, Cross, Simon S., Czene, Kamila, Darabi, Hatef, Devilee, Peter ORCID: 0000-0002-8023-2009, Eriksson, Mikael, Fasching, Peter A., Figueroa, Jonine, Flyger, Henrik, Fostira, Florentia, Garcia-Closas, Montserrat, Giles, Graham G., Glendon, Gord, Gonzalez-Neira, Anna ORCID: 0000-0002-5421-2020, Guenel, Pascal ORCID: 0000-0002-8359-518X, Haiman, Christopher A., Hall, Per, Hart, Steven N., Hartman, Mikael ORCID: 0000-0001-5726-9965, Hooning, Maartje J., Hsiung, Chia-Ni, Ito, Hidemi, Jakubowska, Anna ORCID: 0000-0002-5650-0501, James, Paul A., John, Esther M., Johnson, Nichola, Jones, Michael ORCID: 0000-0001-7479-3451, Kabisch, Maria, Kang, Daehee, Kosma, Veli-Matti, Kristensen, Vessela, Lambrechts, Diether ORCID: 0000-0002-3429-302X, Li, Na, Lindblom, Annika, Long, Jirong ORCID: 0000-0002-7433-9766, Lophatananon, Artitaya, Lubinski, Jan ORCID: 0000-0003-2931-3003, Mannermaa, Arto, Manoukian, Siranoush, Margolin, Sara, Matsuo, Keitaro ORCID: 0000-0003-1761-6314, Meindl, Alfons, Mitchell, Gillian, Muir, Kenneth, Nevelsteen, Ines, van den Ouweland, Ans, Peterlongo, Paolo ORCID: 0000-0001-6951-6855, Phuah, Sze Yee, Pylkas, Katri ORCID: 0000-0002-2449-0521, Rowley, Simone M., Sangrajrang, Suleeporn, Schmutzler, Rita K., Shen, Chen-Yang, Shu, Xiao-Ou, Southey, Melissa C., Surowy, Harald ORCID: 0000-0002-3595-9188, Swerdlow, Anthony ORCID: 0000-0001-5550-4159, Teo, Soo H., Tollenaar, Rob A. E. M., Tomlinson, Ian, Torres, Diana, Truong, Therese, Vachon, Celine, Verhoef, Senno, Wong-Brown, Michelle ORCID: 0000-0003-2827-2852, Zheng, Wei ORCID: 0000-0003-1226-070X, Zheng, Ying, Nevanlinna, Heli, Scott, Rodney J., Andrulis, Irene L., Wu, Anna H., Hopper, John L., Couch, Fergus J., Winqvist, Robert, Burwinkel, Barbara, Sawyer, Elinor J., Schmidt, Marjanka K., Rudolph, Anja, Doerk, Thilo, Brauch, Hiltrud ORCID: 0000-0001-7531-2736, Hamann, Ute, Neuhausen, Susan L., Milne, Roger L., Fletcher, Olivia ORCID: 0000-0001-9387-7116, Pharoah, Paul D. P., Campbell, Ian G., Dunning, Alison M., Le Calvez-Kelm, Florence ORCID: 0000-0003-0063-5068, Goldgar, David E., Tavtigian, Sean V. and Chenevix-Trench, Georgia ORCID: 0000-0002-1878-2587 (2016). No evidence that protein truncating variants in BRIP1 are associated with breast cancer risk: implications for gene panel testing. J. Med. Genet., 53 (5). S. 298 - 310. LONDON: BMJ PUBLISHING GROUP. ISSN 1468-6244

Full text not available from this repository.

Abstract

Background BRCA1 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 breast cancer. These studies have led to inclusion of BRIP1 on targeted sequencing panels for breast cancer risk prediction. Methods We evaluated a truncating variant, p.Arg798Ter (rs137852986), and 10 missense variants of BRIP1, in 48144 cases and 43607 controls of European origin, drawn from 41 studies participating in the Breast Cancer Association Consortium (BCAC). Additionally, we sequenced the coding regions of BRIP1 in 13213 cases and 5242 controls from the UK, 1313 cases and 1123 controls from three population-based studies as part of the Breast Cancer Family Registry, and 1853 familial cases and 2001 controls from Australia. Results The rare truncating allele of rs137852986 was observed in 23 cases and 18 controls in Europeans in BCAC (OR 1.09, 95% CI 0.58 to 2.03, p=0.79). Truncating variants were found in the sequencing studies in 34 cases (0.21%) and 19 controls (0.23%) (combined OR 0.90, 95% CI 0.48 to 1.70, p=0.75). Conclusions These results suggest that truncating variants in BRIP1, and in particular p.Arg798Ter, are not associated with a substantial increase in breast cancer risk. Such observations have important implications for the reporting of results from breast cancer screening panels.

Item Type: Journal Article
Creators:
CreatorsEmailORCIDORCID Put Code
Easton, Douglas F.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Lesueur, FabienneUNSPECIFIEDorcid.org/0000-0001-7404-4549UNSPECIFIED
Decker, BrennanUNSPECIFIEDorcid.org/0000-0003-4516-7421UNSPECIFIED
Michailidou, KyriakiUNSPECIFIEDorcid.org/0000-0001-7065-1237UNSPECIFIED
Li, JunUNSPECIFIEDorcid.org/0000-0003-1553-8105UNSPECIFIED
Allen, JamieUNSPECIFIEDorcid.org/0000-0002-8677-2225UNSPECIFIED
Luccarini, CraigUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Pooley, Karen A.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Shah, MitulUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Bolla, Manjeet K.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Wang, QinUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Dennis, JoeUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Ahmad, JamilUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Thompson, Ella R.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Damiola, FrancescaUNSPECIFIEDorcid.org/0000-0002-0238-1252UNSPECIFIED
Pertesi, MaroulioUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Voegele, CatherineUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Mebirouk, NouraUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Robinot, NivonirinaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Durand, GeoffroyUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Forey, NathalieUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Luben, Robert N.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Ahmed, ShahanaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Aittomaki, KristiinaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Anton-Culver, HodaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Arndt, VolkerUNSPECIFIEDorcid.org/0000-0001-9320-8684UNSPECIFIED
Baynes, CarolineUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Beckman, Matthias W.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Benitez, JavierUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Van Den Berg, DavidUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Blot, William J.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Bogdanova, Natalia V.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Bojesen, Stig E.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Brenner, HermannUNSPECIFIEDorcid.org/0000-0002-6129-1572UNSPECIFIED
Chang-Claude, JennyUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Chia, Kee SengUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Choi, Ji-YeobUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Conroy, Don M.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Cox, AngelaUNSPECIFIEDorcid.org/0000-0002-5138-1099UNSPECIFIED
Cross, Simon S.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Czene, KamilaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Darabi, HatefUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Devilee, PeterUNSPECIFIEDorcid.org/0000-0002-8023-2009UNSPECIFIED
Eriksson, MikaelUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Fasching, Peter A.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Figueroa, JonineUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Flyger, HenrikUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Fostira, FlorentiaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Garcia-Closas, MontserratUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Giles, Graham G.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Glendon, GordUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Gonzalez-Neira, AnnaUNSPECIFIEDorcid.org/0000-0002-5421-2020UNSPECIFIED
Guenel, PascalUNSPECIFIEDorcid.org/0000-0002-8359-518XUNSPECIFIED
Haiman, Christopher A.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Hall, PerUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Hart, Steven N.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Hartman, MikaelUNSPECIFIEDorcid.org/0000-0001-5726-9965UNSPECIFIED
Hooning, Maartje J.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Hsiung, Chia-NiUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Ito, HidemiUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Jakubowska, AnnaUNSPECIFIEDorcid.org/0000-0002-5650-0501UNSPECIFIED
James, Paul A.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
John, Esther M.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Johnson, NicholaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Jones, MichaelUNSPECIFIEDorcid.org/0000-0001-7479-3451UNSPECIFIED
Kabisch, MariaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Kang, DaeheeUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Kosma, Veli-MattiUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Kristensen, VesselaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Lambrechts, DietherUNSPECIFIEDorcid.org/0000-0002-3429-302XUNSPECIFIED
Li, NaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Lindblom, AnnikaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Long, JirongUNSPECIFIEDorcid.org/0000-0002-7433-9766UNSPECIFIED
Lophatananon, ArtitayaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Lubinski, JanUNSPECIFIEDorcid.org/0000-0003-2931-3003UNSPECIFIED
Mannermaa, ArtoUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Manoukian, SiranoushUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Margolin, SaraUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Matsuo, KeitaroUNSPECIFIEDorcid.org/0000-0003-1761-6314UNSPECIFIED
Meindl, AlfonsUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Mitchell, GillianUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Muir, KennethUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Nevelsteen, InesUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
van den Ouweland, AnsUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Peterlongo, PaoloUNSPECIFIEDorcid.org/0000-0001-6951-6855UNSPECIFIED
Phuah, Sze YeeUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Pylkas, KatriUNSPECIFIEDorcid.org/0000-0002-2449-0521UNSPECIFIED
Rowley, Simone M.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Sangrajrang, SuleepornUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Schmutzler, Rita K.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Shen, Chen-YangUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Shu, Xiao-OuUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Southey, Melissa C.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Surowy, HaraldUNSPECIFIEDorcid.org/0000-0002-3595-9188UNSPECIFIED
Swerdlow, AnthonyUNSPECIFIEDorcid.org/0000-0001-5550-4159UNSPECIFIED
Teo, Soo H.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Tollenaar, Rob A. E. M.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Tomlinson, IanUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Torres, DianaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Truong, ThereseUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Vachon, CelineUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Verhoef, SennoUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Wong-Brown, MichelleUNSPECIFIEDorcid.org/0000-0003-2827-2852UNSPECIFIED
Zheng, WeiUNSPECIFIEDorcid.org/0000-0003-1226-070XUNSPECIFIED
Zheng, YingUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Nevanlinna, HeliUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Scott, Rodney J.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Andrulis, Irene L.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Wu, Anna H.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Hopper, John L.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Couch, Fergus J.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Winqvist, RobertUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Burwinkel, BarbaraUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Sawyer, Elinor J.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Schmidt, Marjanka K.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Rudolph, AnjaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Doerk, ThiloUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Brauch, HiltrudUNSPECIFIEDorcid.org/0000-0001-7531-2736UNSPECIFIED
Hamann, UteUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Neuhausen, Susan L.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Milne, Roger L.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Fletcher, OliviaUNSPECIFIEDorcid.org/0000-0001-9387-7116UNSPECIFIED
Pharoah, Paul D. P.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Campbell, Ian G.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Dunning, Alison M.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Le Calvez-Kelm, FlorenceUNSPECIFIEDorcid.org/0000-0003-0063-5068UNSPECIFIED
Goldgar, David E.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Tavtigian, Sean V.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Chenevix-Trench, GeorgiaUNSPECIFIEDorcid.org/0000-0002-1878-2587UNSPECIFIED
URN: urn:nbn:de:hbz:38-277798
DOI: 10.1136/jmedgenet-2015-103529
Journal or Publication Title: J. Med. Genet.
Volume: 53
Number: 5
Page Range: S. 298 - 310
Date: 2016
Publisher: BMJ PUBLISHING GROUP
Place of Publication: LONDON
ISSN: 1468-6244
Language: English
Faculty: Unspecified
Divisions: Unspecified
Subjects: no entry
Uncontrolled Keywords:
KeywordsLanguage
ATAXIA-TELANGIECTASIA; MUTATION ANALYSIS; FAMILY REGISTRY; RARE MUTATIONS; ATM MUTATIONS; SUSCEPTIBILITY; FRAMEWORK; BACH1; BRCA1; PALB2Multiple languages
Genetics & HeredityMultiple languages
Refereed: Yes
URI: http://kups.ub.uni-koeln.de/id/eprint/27779

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