Article

Analysis of variants in untranslated and promoter regions and breast cancer risk using whole genome sequencing data

2024-07-05

Abstract excerpt

Recent exome-wide association studies have explored the role of coding variants in breast cancer risk, highlighting the role of rare variants in multiple genes including BRCA1, BRCA2, CHEK2, ATM and PALB2 , as well as new susceptibility genes e.g., MAP3K1 . These genes, however, explain a small proportion of the missing heritability of the disease. Much of the missing heritability likely lies in the non-coding gen...

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Literature Corpus work: 6ed2cd14-8a84-5d09-b63c-1f8b8692f3d3
DOI: 10.1101/2024.07.03.24309763

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