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

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Fältnamn	Indikatorer	Metadata
000		08129naa a2201705 4500
001		oai:lup.lub.lu.se:a8f6b683-65d8-4631-85a9-327a215a6d29
003		SwePub
008		160401s2010 \| \|\|\|\|\|\|\|\|\|\|\|000 \|\|eng\|
024	7	a https://lup.lub.lu.se/record/17528612 URI
024	7	a https://doi.org/10.1371/journal.pgen.10011832 DOI
040		a (SwePub)lu
041		a engb eng
042		9 SwePub
072	7	a art2 swepub-publicationtype
072	7	a ref2 swepub-contenttype
100	1	a Gaudet, Mia M.4 aut
245	1 0	a Common Genetic Variants and Modification of Penetrance of BRCA2-Associated Breast Cancer
264		c 2010-10-28
264	1	b Public Library of Science (PLoS),c 2010
338		a electronic2 rdacarrier
520		a 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 BRCA26174delT 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, BRCA26174delT. 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.
650	7	a MEDICIN OCH HÄLSOVETENSKAPx Klinisk medicinx Cancer och onkologi0 (SwePub)302032 hsv//swe
650	7	a MEDICAL AND HEALTH SCIENCESx Clinical Medicinex Cancer and Oncology0 (SwePub)302032 hsv//eng
700	1	a Kirchhoff, Tomas4 aut
700	1	a Green, Todd4 aut
700	1	a Vijai, Joseph4 aut
700	1	a Korn, Joshua M.4 aut
700	1	a Guiducci, Candace4 aut
700	1	a Segre, Ayellet V.4 aut
700	1	a McGee, Kate4 aut
700	1	a McGuffog, Lesley4 aut
700	1	a Kartsonaki, Christiana4 aut
700	1	a Morrison, Jonathan4 aut
700	1	a Healey, Sue4 aut
700	1	a Sinilnikova, Olga M.4 aut
700	1	a Stoppa-Lyonnet, Dominique4 aut
700	1	a Mazoyer, Sylvie4 aut
700	1	a Gauthier-Villars, Marion4 aut
700	1	a Sobol, Hagay4 aut
700	1	a Longy, Michel4 aut
700	1	a Frenay, Marc4 aut
700	1	a Hogervorst, Frans B. L.4 aut
700	1	a Rookus, Matti A.4 aut
700	1	a Collee, J. Margriet4 aut
700	1	a Hoogerbrugge, Nicoline4 aut
700	1	a van Roozendaal, Kees E. P.4 aut
700	1	a Piedmonte, Marion4 aut
700	1	a Rubinstein, Wendy4 aut
700	1	a Nerenstone, Stacy4 aut
700	1	a Van Le, Linda4 aut
700	1	a Blank, Stephanie V.4 aut
700	1	a Caldes, Trinidad4 aut
700	1	a de la Hoya, Miguel4 aut
700	1	a Nevanlinna, Heli4 aut
700	1	a Aittomaki, Kristiina4 aut
700	1	a Lazaro, Conxi4 aut
700	1	a Blanco, Ignacio4 aut
700	1	a Arason, Adalgeir4 aut
700	1	a Johannsson, Oskar T.4 aut
700	1	a Barkardottir, Rosa B.4 aut
700	1	a Devilee, Peter4 aut
700	1	a Olopade, Olofunmilayo I.4 aut
700	1	a Neuhausen, Susan L.4 aut
700	1	a Wang, Xianshu4 aut
700	1	a Fredericksen, Zachary S.4 aut
700	1	a Peterlongo, Paolo4 aut
700	1	a Manoukian, Siranoush4 aut
700	1	a Barile, Monica4 aut
700	1	a Viel, Alessandra4 aut
700	1	a Radice, Paolo4 aut
700	1	a Phelan, Catherine M.4 aut
700	1	a Narod, Steven4 aut
700	1	a Rennert, Gad4 aut
700	1	a Lejbkowicz, Flavio4 aut
700	1	a Flugelman, Anath4 aut
700	1	a Andrulis, Irene L.4 aut
700	1	a Glendon, Gord4 aut
700	1	a Ozcelik, Hilmi4 aut
700	1	a Toland, Amanda E.4 aut
700	1	a Montagna, Marco4 aut
700	1	a D'Andrea, Emma4 aut
700	1	a Friedman, Eitan4 aut
700	1	a Laitman, Yael4 aut
700	1	a Borg, Åkeu Lund 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 Medicine4 aut0 (Swepub:lu)onk-abo
700	1	a Beattie, Mary4 aut
700	1	a Ramus, Susan J.4 aut
700	1	a Domchek, Susan M.4 aut
700	1	a Nathanson, Katherine L.4 aut
700	1	a Rebbeck, Tim4 aut
700	1	a Spurdle, Amanda B.4 aut
700	1	a Chen, Xiaoqing4 aut
700	1	a Holland, Helene4 aut
700	1	a John, Esther M.4 aut
700	1	a Hopper, John L.4 aut
700	1	a Buys, Saundra S.4 aut
700	1	a Daly, Mary B.4 aut
700	1	a Southey, Melissa C.4 aut
700	1	a Terry, Mary Beth4 aut
700	1	a Tung, Nadine4 aut
700	1	a Hansen, Thomas V. Overeem4 aut
700	1	a Nielsen, Finn C.4 aut
700	1	a Greene, Mark I.4 aut
700	1	a Mai, Phuong L.4 aut
700	1	a Osorio, Ana4 aut
700	1	a Duran, Mercedes4 aut
700	1	a Andres, Raquel4 aut
700	1	a Benitez, Javier4 aut
700	1	a Weitzel, Jeffrey N.4 aut
700	1	a Garber, Judy4 aut
700	1	a Hamann, Ute4 aut
700	1	a Peock, Susan4 aut
700	1	a Cook, Margaret4 aut
700	1	a Oliver, Clare4 aut
700	1	a Frost, Debra4 aut
700	1	a Platte, Radka4 aut
700	1	a Evans, D. Gareth4 aut
700	1	a Lalloo, Fiona4 aut
700	1	a Eeles, Ros4 aut
700	1	a Izatt, Louise4 aut
700	1	a Walker, Lisa4 aut
700	1	a Eason, Jacqueline4 aut
700	1	a Barwell, Julian4 aut
700	1	a Godwin, Andrew K.4 aut
700	1	a Schmutzler, Rita K.4 aut
700	1	a Wappenschmidt, Barbara4 aut
700	1	a Engert, Stefanie4 aut
700	1	a Arnold, Norbert4 aut
700	1	a Gadzicki, Dorothea4 aut
700	1	a Dean, Michael4 aut
700	1	a Gold, Bert4 aut
700	1	a Klein, Robert J.4 aut
700	1	a Couch, Fergus J.4 aut
700	1	a Chenevix-Trench, Georgia4 aut
700	1	a Easton, Douglas F.4 aut
700	1	a Daly, Mark J.4 aut
700	1	a Antoniou, Antonis C.4 aut
700	1	a Altshuler, David M.4 aut
700	1	a Offit, Kenneth4 aut
710	2	a Bröstcancer-genetikb Sektion I4 org
773	0	t PLoS Geneticsd : Public Library of Science (PLoS)g 6:10q 6:10x 1553-7404
856	4	u https://portal.research.lu.se/files/2262625/1762681.pdfx primaryx freey FULLTEXT
856	4	u http://dx.doi.org/10.1371/journal.pgen.1001183x freey FULLTEXT
856	4	u https://journals.plos.org/plosgenetics/article/file?id=10.1371/journal.pgen.1001183&type=printable
856	4 8	u https://lup.lub.lu.se/record/1752861
856	4 8	u https://doi.org/10.1371/journal.pgen.1001183

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Av författaren/redakt...: Gaudet, Mia M.; Kirchhoff, Tomas; Green, Todd; Vijai, Joseph; Korn, Joshua M.; Guiducci, Candac ...; visa fler...; 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; visa färre...

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