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dc.contributor.authorAntoniou, Aen_US
dc.contributor.authorPharoah, PDPen_US
dc.contributor.authorNarod, Sen_US
dc.contributor.authorRisch, HAen_US
dc.contributor.authorEyfjord, JEen_US
dc.contributor.authorHopper, JLen_US
dc.contributor.authorLoman, Nen_US
dc.contributor.authorOlsson, Hen_US
dc.contributor.authorJohannsson, Oen_US
dc.contributor.authorBorg, Åen_US
dc.contributor.authorPasini, Ben_US
dc.contributor.authorRadice, Pen_US
dc.contributor.authorManoukian, Sen_US
dc.contributor.authorEccles, DMen_US
dc.contributor.authorTang, Nen_US
dc.contributor.authorOlah, Een_US
dc.contributor.authorAnton-Culver, Hen_US
dc.contributor.authorWarner, Een_US
dc.contributor.authorLubinski, Jen_US
dc.contributor.authorGronwald, Jen_US
dc.contributor.authorGorski, Ben_US
dc.contributor.authorTulinius, Hen_US
dc.contributor.authorThorlacius, Sen_US
dc.contributor.authorEerola, Hen_US
dc.contributor.authorNevanlinna, Hen_US
dc.contributor.authorSyrjäkoski, Ken_US
dc.contributor.authorKallioniemi, O-Pen_US
dc.contributor.authorThompson, Den_US
dc.contributor.authorEvans, Cen_US
dc.contributor.authorPeto, Jen_US
dc.contributor.authorLalloo, Fen_US
dc.contributor.authorEvans, DGen_US
dc.contributor.authorEaston, DFen_US
dc.identifier.citationThe American Journal of Human Genetics, 2003, 72 pp. 1117 - 1130en_US
dc.description.abstractGermline mutations in BRCA1 and BRCA2 confer high risks of breast and ovarian cancer, but the average magnitude of these risks is uncertain and may depend on the context. Estimates based on multiple-case families may be enriched for mutations of higher risk and/or other familial risk factors, whereas risk estimates from studies based on cases unselected for family history have been imprecise. We pooled pedigree data from 22 studies involving 8,139 index case patients unselected for family history with female (86%) or male (2%) breast cancer or epithelial ovarian cancer (12%), 500 of whom had been found to carry a germline mutation in BRCA1 or BRCA2. Breast and ovarian cancer incidence rates for mutation carriers were estimated using a modified segregation analysis, based on the occurrence of these cancers in the relatives of mutation-carrying index case patients. The average cumulative risks in BRCA1-mutation carriers by age 70 years were 65% (95% confidence interval 44%–78%) for breast cancer and 39% (18%–54%) for ovarian cancer. The corresponding estimates for BRCA2 were 45% (31%–56%) and 11% (2.4%–19%). Relative risks of breast cancer declined significantly with age for BRCA1-mutation carriers (P trend .0012) but not for BRCA2-mutation carriers. Risks in carriers were higher when based on index breast cancer cases diagnosed at <35 years of age. We found some evidence for a reduction in risk in women from earlier birth cohorts and for variation in risk by mutation position for both genes. The pattern of cancer risks was similar to those found in multiple-case families, but their absolute magnitudes were lower, particularly for BRCA2. The variation in risk by age at diagnosis of index case is consistent with the effects of other genes modifying cancer risk in carriers.en_US
dc.format.extent1117 - 1130en_US
dc.titleAverage Risks of Breast and Ovarian Cancer Associated with BRCA1 or BRCA2 Mutations Detected in Case Series Unselected for Family History: A Combined Analysis of 22 Studiesen_US
dc.typeJournal Article
rioxxterms.typeJournal Article/Reviewen_US
dc.relation.isPartOfThe American Journal of Human Geneticsen_US
pubs.notesNot knownen_US
pubs.embargo.termsNot knownen_US
dc.contributor.icrauthorPeto, Julianen_US

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