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Potential Misrepresentation of Inherited Breast Cancer Risk by Common Germline Alleles
2022-10-22
genetic and genomic medicine
Title + abstract only
View on medRxiv
Show abstract
Hundreds of common variants have been found to confer small but significant differences in breast cancer risk, supporting the polygenic additive model of inherited risk. This widely accepted model is at odds with twin data indicating highly elevated risk in a subgroup of women. Using a novel closed-pattern-mining algorithm, we provide evidence that rare variants or haplotypes may underlie the association of breast cancer risk with common germline alleles. Our method, called Chromosome Overlap, c...
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