Common Genetic Variants and Modification of Penetrance of BRCA2-Associated Breast Cancer

↓ Direkt till sidans innehåll
↓ Direkt till sidans sekundära innehåll (sidomenyn)

Search: (WFRF:(Frost Debra)) > Common Genetic Vari...

Details
MARC

Gaudet, Mia M. (author)

Common Genetic Variants and Modification of Penetrance of BRCA2-Associated Breast Cancer

Article/chapterEnglish2010

Publisher, publication year, extent ...

2010-10-28
Public Library of Science (PLoS),2010
electronicrdacarrier

Numbers

LIBRIS-ID:oai:lup.lub.lu.se:a8f6b683-65d8-4631-85a9-327a215a6d29
https://lup.lub.lu.se/record/1752861URI
https://doi.org/10.1371/journal.pgen.1001183DOI

Supplementary language notes

Language:English
Summary in:English

Part of subdatabase

SwePubSwePub

Classification

Subject category:art swepub-publicationtype
Subject category:ref swepub-contenttype

Notes

The considerable uncertainty regarding cancer risks associated with inherited mutations of BRCA2 is due to unknown factors. To investigate whether common genetic variants modify penetrance for BRCA2 mutation carriers, we undertook a two-staged genome-wide association study in BRCA2 mutation carriers. In stage 1 using the Affymetrix 6.0 platform, 592,163 filtered SNPs genotyped were available on 899 young (, 40 years) affected and 804 unaffected carriers of European ancestry. Associations were evaluated using a survival-based score test adjusted for familial correlations and stratified by country of the study and BRCA2*6174delT mutation status. The genomic inflation factor (lambda) was 1.011. The stage 1 association analysis revealed multiple variants associated with breast cancer risk: 3 SNPs had p-values, 10 25 and 39 SNPs had p-values<10(-4). These variants included several previously associated with sporadic breast cancer risk and two novel loci on chromosome 20 (rs311499) and chromosome 10 (rs16917302). The chromosome 10 locus was in ZNF365, which contains another variant that has recently been associated with breast cancer in an independent study of unselected cases. In stage 2, the top 85 loci from stage 1 were genotyped in 1,264 cases and 1,222 controls. Hazard ratios (HR) and 95% confidence intervals (CI) for stage 1 and 2 were combined and estimated using a retrospective likelihood approach, stratified by country of residence and the most common mutation, BRCA2*6174delT. The combined per allele HR of the minor allele for the novel loci rs16917302 was 0.75 (95% CI 0.66-0.86, p = 3: 8 x 10(-5)) and for rs311499 was 0.72 (95% CI 0.61-0.85, p = 6: 6 x 10(-5)). FGFR2 rs2981575 had the strongest association with breast cancer risk (per allele HR = 1.28, 95% CI 1.18-1.39, p = 1: 2 x 10(-8)). These results indicate that SNPs that modify BRCA2 penetrance identified by an agnostic approach thus far are limited to variants that also modify risk of sporadic BRCA2 wild-type breast cancer.

Subject headings and genre

Added entries (persons, corporate bodies, meetings, titles ...)

Kirchhoff, Tomas (author)
Green, Todd (author)
Vijai, Joseph (author)
Korn, Joshua M. (author)
Guiducci, Candace (author)
Segre, Ayellet V. (author)
McGee, Kate (author)
McGuffog, Lesley (author)
Kartsonaki, Christiana (author)
Morrison, Jonathan (author)
Healey, Sue (author)
Sinilnikova, Olga M. (author)
Stoppa-Lyonnet, Dominique (author)
Mazoyer, Sylvie (author)
Gauthier-Villars, Marion (author)
Sobol, Hagay (author)
Longy, Michel (author)
Frenay, Marc (author)
Hogervorst, Frans B. L. (author)
Rookus, Matti A. (author)
Collee, J. Margriet (author)
Hoogerbrugge, Nicoline (author)
van Roozendaal, Kees E. P. (author)
Piedmonte, Marion (author)
Rubinstein, Wendy (author)
Nerenstone, Stacy (author)
Van Le, Linda (author)
Blank, Stephanie V. (author)
Caldes, Trinidad (author)
de la Hoya, Miguel (author)
Nevanlinna, Heli (author)
Aittomaki, Kristiina (author)
Lazaro, Conxi (author)
Blanco, Ignacio (author)
Arason, Adalgeir (author)
Johannsson, Oskar T. (author)
Barkardottir, Rosa B. (author)
Devilee, Peter (author)
Olopade, Olofunmilayo I. (author)
Neuhausen, Susan L. (author)
Wang, Xianshu (author)
Fredericksen, Zachary S. (author)
Peterlongo, Paolo (author)
Manoukian, Siranoush (author)
Barile, Monica (author)
Viel, Alessandra (author)
Radice, Paolo (author)
Phelan, Catherine M. (author)
Narod, Steven (author)
Rennert, Gad (author)
Lejbkowicz, Flavio (author)
Flugelman, Anath (author)
Andrulis, Irene L. (author)
Glendon, Gord (author)
Ozcelik, Hilmi (author)
Toland, Amanda E. (author)
Montagna, Marco (author)
D'Andrea, Emma (author)
Friedman, Eitan (author)
Laitman, Yael (author)
Borg, ÅkeLund University,Lunds universitet,Bröstcancer-genetik,Sektion I,Institutionen för kliniska vetenskaper, Lund,Medicinska fakulteten,Breastcancer-genetics,Section I,Department of Clinical Sciences, Lund,Faculty of Medicine(Swepub:lu)onk-abo (author)
Beattie, Mary (author)
Ramus, Susan J. (author)
Domchek, Susan M. (author)
Nathanson, Katherine L. (author)
Rebbeck, Tim (author)
Spurdle, Amanda B. (author)
Chen, Xiaoqing (author)
Holland, Helene (author)
John, Esther M. (author)
Hopper, John L. (author)
Buys, Saundra S. (author)
Daly, Mary B. (author)
Southey, Melissa C. (author)
Terry, Mary Beth (author)
Tung, Nadine (author)
Hansen, Thomas V. Overeem (author)
Nielsen, Finn C. (author)
Greene, Mark I. (author)
Mai, Phuong L. (author)
Osorio, Ana (author)
Duran, Mercedes (author)
Andres, Raquel (author)
Benitez, Javier (author)
Weitzel, Jeffrey N. (author)
Garber, Judy (author)
Hamann, Ute (author)
Peock, Susan (author)
Cook, Margaret (author)
Oliver, Clare (author)
Frost, Debra (author)
Platte, Radka (author)
Evans, D. Gareth (author)
Lalloo, Fiona (author)
Eeles, Ros (author)
Izatt, Louise (author)
Walker, Lisa (author)
Eason, Jacqueline (author)
Barwell, Julian (author)
Godwin, Andrew K. (author)
Schmutzler, Rita K. (author)
Wappenschmidt, Barbara (author)
Engert, Stefanie (author)
Arnold, Norbert (author)
Gadzicki, Dorothea (author)
Dean, Michael (author)
Gold, Bert (author)
Klein, Robert J. (author)
Couch, Fergus J. (author)
Chenevix-Trench, Georgia (author)
Easton, Douglas F. (author)
Daly, Mark J. (author)
Antoniou, Antonis C. (author)
Altshuler, David M. (author)
Offit, Kenneth (author)
Bröstcancer-genetikSektion I (creator_code:org_t)

Related titles

In:PLoS Genetics: Public Library of Science (PLoS)6:101553-7404

Internet link

Find in a library

PLoS Genetics (Search for host publication in LIBRIS)

To the university's database

Find more in SwePub

By the author/editor: Gaudet, Mia M.; Kirchhoff, Tomas; Green, Todd; Vijai, Joseph; Korn, Joshua M.; Guiducci, Candac ...; show more...; Segre, Ayellet V ...; McGee, Kate; McGuffog, Lesley; Kartsonaki, Chri ...; Morrison, Jonath ...; Healey, Sue; Sinilnikova, Olg ...; Stoppa-Lyonnet, ...; Mazoyer, Sylvie; Gauthier-Villars ...; Sobol, Hagay; Longy, Michel; Frenay, Marc; Hogervorst, Fran ...; Rookus, Matti A.; Collee, J. Margr ...; Hoogerbrugge, Ni ...; van Roozendaal, ...; Piedmonte, Mario ...; Rubinstein, Wend ...; Nerenstone, Stac ...; Van Le, Linda; Blank, Stephanie ...; Caldes, Trinidad; de la Hoya, Migu ...; Nevanlinna, Heli; Aittomaki, Krist ...; Lazaro, Conxi; Blanco, Ignacio; Arason, Adalgeir; Johannsson, Oska ...; Barkardottir, Ro ...; Devilee, Peter; Olopade, Olofunm ...; Neuhausen, Susan ...; Wang, Xianshu; Fredericksen, Za ...; Peterlongo, Paol ...; Manoukian, Siran ...; Barile, Monica; Viel, Alessandra; Radice, Paolo; Phelan, Catherin ...; Narod, Steven; Rennert, Gad; Lejbkowicz, Flav ...; Flugelman, Anath; Andrulis, Irene ...; Glendon, Gord; Ozcelik, Hilmi; Toland, Amanda E ...; Montagna, Marco; D'Andrea, Emma; Friedman, Eitan; Laitman, Yael; Borg, Åke; Beattie, Mary; Ramus, Susan J.; Domchek, Susan M ...; Nathanson, Kathe ...; Rebbeck, Tim; Spurdle, Amanda ...; Chen, Xiaoqing; Holland, Helene; John, Esther M.; Hopper, John L.; Buys, Saundra S.; Daly, Mary B.; Southey, Melissa ...; Terry, Mary Beth; Tung, Nadine; Hansen, Thomas V ...; Nielsen, Finn C.; Greene, Mark I.; Mai, Phuong L.; Osorio, Ana; Duran, Mercedes; Andres, Raquel; Benitez, Javier; Weitzel, Jeffrey ...; Garber, Judy; Hamann, Ute; Peock, Susan; Cook, Margaret; Oliver, Clare; Frost, Debra; Platte, Radka; Evans, D. Gareth; Lalloo, Fiona; Eeles, Ros; Izatt, Louise; Walker, Lisa; Eason, Jacquelin ...; Barwell, Julian; Godwin, Andrew K ...; Schmutzler, Rita ...; Wappenschmidt, B ...; Engert, Stefanie; Arnold, Norbert; Gadzicki, Doroth ...; Dean, Michael; Gold, Bert; Klein, Robert J.; Couch, Fergus J.; Chenevix-Trench, ...; Easton, Douglas ...; Daly, Mark J.; Antoniou, Antoni ...; Altshuler, David ...; Offit, Kenneth; show less...

About the subject

MEDICAL AND HEALTH SCIENCES: MEDICAL AND HEAL ...; and Clinical Medicin ...; and Cancer and Oncol ...

Articles in the publication: PLoS Genetics

By the university: Lund University

Search outside SwePub

Extend your search to:: Google; Google Book Search; Google Scholar

Kungliga biblioteket hanterar dina personuppgifter i enlighet med EU:s dataskyddsförordning (2018), GDPR. Läs mer om hur det funkar här.
Så här hanterar KB dina uppgifter vid användning av denna tjänst.

LIBRIS.kb.se