The impact of next generation sequencing on the analysis of breast cancer susceptibility: a role for extremely rare genetic variation?

Abstract excerpt

Women with a family history of breast cancer have an approximately twofold elevated risk of the disease. Even though an array of genes has been associated with breast cancer risk the past two decades, variants within these genes jointly explain at most 40% of this familial risk. Many explanations for this 'missing heritability' have been proposed, including the existence of many very rare variants, interactions...

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