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000167756 005__ 20240917142736.0
000167756 0247_ $$2doi$$a10.1038/s41467-020-20496-3
000167756 0247_ $$2pmid$$apmid:33597508
000167756 0247_ $$2altmetric$$aaltmetric:100393767
000167756 037__ $$aDKFZ-2021-00520
000167756 041__ $$aEnglish
000167756 082__ $$a500
000167756 1001_ $$aCoignard, Juliette$$b0
000167756 245__ $$aA case-only study to identify genetic modifiers of breast cancer risk for BRCA1/BRCA2 mutation carriers.
000167756 260__ $$a[London]$$bNature Publishing Group UK$$c2021
000167756 3367_ $$2DRIVER$$aarticle
000167756 3367_ $$2DataCite$$aOutput Types/Journal article
000167756 3367_ $$0PUB:(DE-HGF)16$$2PUB:(DE-HGF)$$aJournal Article$$bjournal$$mjournal$$s1726576022_21166
000167756 3367_ $$2BibTeX$$aARTICLE
000167756 3367_ $$2ORCID$$aJOURNAL_ARTICLE
000167756 3367_ $$00$$2EndNote$$aJournal Article
000167756 520__ $$aBreast cancer (BC) risk for BRCA1 and BRCA2 mutation carriers varies by genetic and familial factors. About 50 common variants have been shown to modify BC risk for mutation carriers. All but three, were identified in general population studies. Other mutation carrier-specific susceptibility variants may exist but studies of mutation carriers have so far been underpowered. We conduct a novel case-only genome-wide association study comparing genotype frequencies between 60,212 general population BC cases and 13,007 cases with BRCA1 or BRCA2 mutations. We identify robust novel associations for 2 variants with BC for BRCA1 and 3 for BRCA2 mutation carriers, P < 10-8, at 5 loci, which are not associated with risk in the general population. They include rs60882887 at 11p11.2 where MADD, SP11 and EIF1, genes previously implicated in BC biology, are predicted as potential targets. These findings will contribute towards customising BC polygenic risk scores for BRCA1 and BRCA2 mutation carriers.
000167756 536__ $$0G:(DE-HGF)POF4-313$$a313 - Krebsrisikofaktoren und Prävention (POF4-313)$$cPOF4-313$$fPOF IV$$x0
000167756 588__ $$aDataset connected to CrossRef, PubMed,
000167756 650_7 $$2NLM Chemicals$$aBRCA1 Protein
000167756 650_7 $$2NLM Chemicals$$aBRCA1 protein, human
000167756 650_7 $$2NLM Chemicals$$aBRCA2 Protein
000167756 650_7 $$2NLM Chemicals$$aBRCA2 protein, human
000167756 650_2 $$2MeSH$$aAdult
000167756 650_2 $$2MeSH$$aAlleles
000167756 650_2 $$2MeSH$$aBRCA1 Protein: genetics
000167756 650_2 $$2MeSH$$aBRCA2 Protein: genetics
000167756 650_2 $$2MeSH$$aBreast Neoplasms: genetics
000167756 650_2 $$2MeSH$$aFemale
000167756 650_2 $$2MeSH$$aGenetic Predisposition to Disease: genetics
000167756 650_2 $$2MeSH$$aGenome-Wide Association Study: methods
000167756 650_2 $$2MeSH$$aGenotype
000167756 650_2 $$2MeSH$$aHumans
000167756 650_2 $$2MeSH$$aLinkage Disequilibrium
000167756 650_2 $$2MeSH$$aMiddle Aged
000167756 650_2 $$2MeSH$$aMutation
000167756 650_2 $$2MeSH$$aPolymorphism, Single Nucleotide
000167756 650_2 $$2MeSH$$aQuantitative Trait Loci: genetics
000167756 650_2 $$2MeSH$$aRisk Factors
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