Home > Publications database > A case-only study to identify genetic modifiers of breast cancer risk for BRCA1/BRCA2 mutation carriers. > print

001     167756
005     20240917142736.0
024 7 _ |a 10.1038/s41467-020-20496-3
|2 doi
024 7 _ |a pmid:33597508
|2 pmid
024 7 _ |a altmetric:100393767
|2 altmetric
037 _ _ |a DKFZ-2021-00520
041 _ _ |a English
082 _ _ |a 500
100 1 _ |a Coignard, Juliette
|b 0
245 _ _ |a A case-only study to identify genetic modifiers of breast cancer risk for BRCA1/BRCA2 mutation carriers.
260 _ _ |a [London]
|c 2021
|b Nature Publishing Group UK
336 7 _ |a article
|2 DRIVER
336 7 _ |a Output Types/Journal article
|2 DataCite
336 7 _ |a Journal Article
|b journal
|m journal
|0 PUB:(DE-HGF)16
|s 1726576022_21166
|2 PUB:(DE-HGF)
336 7 _ |a ARTICLE
|2 BibTeX
336 7 _ |a JOURNAL_ARTICLE
|2 ORCID
336 7 _ |a Journal Article
|0 0
|2 EndNote
520 _ _ |a Breast 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.
536 _ _ |a 313 - Krebsrisikofaktoren und Prävention (POF4-313)
|0 G:(DE-HGF)POF4-313
|c POF4-313
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|x 0
588 _ _ |a Dataset connected to CrossRef, PubMed,
650 _ 7 |a BRCA1 Protein
|2 NLM Chemicals
650 _ 7 |a BRCA1 protein, human
|2 NLM Chemicals
650 _ 7 |a BRCA2 Protein
|2 NLM Chemicals
650 _ 7 |a BRCA2 protein, human
|2 NLM Chemicals
650 _ 2 |a Adult
|2 MeSH
650 _ 2 |a Alleles
|2 MeSH
650 _ 2 |a BRCA1 Protein: genetics
|2 MeSH
650 _ 2 |a BRCA2 Protein: genetics
|2 MeSH
650 _ 2 |a Breast Neoplasms: genetics
|2 MeSH
650 _ 2 |a Female
|2 MeSH
650 _ 2 |a Genetic Predisposition to Disease: genetics
|2 MeSH
650 _ 2 |a Genome-Wide Association Study: methods
|2 MeSH
650 _ 2 |a Genotype
|2 MeSH
650 _ 2 |a Humans
|2 MeSH
650 _ 2 |a Linkage Disequilibrium
|2 MeSH
650 _ 2 |a Middle Aged
|2 MeSH
650 _ 2 |a Mutation
|2 MeSH
650 _ 2 |a Polymorphism, Single Nucleotide
|2 MeSH
650 _ 2 |a Quantitative Trait Loci: genetics
|2 MeSH
650 _ 2 |a Risk Factors
|2 MeSH
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