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Investigating the effects of additional truncating variants in DNA-repair genes on breast cancer risk in BRCA1-positive women

8 Aug 2019

Abstract excerpt

BACKGROUND: Inherited pathogenic variants in BRCA1 and BRCA2 are the most common causes of hereditary breast and ovarian cancer (HBOC). The risk of developing breast cancer by age 80 in women carrying a BRCA1 pathogenic variant is 72%. The lifetime risk varies between families and even within affected individuals of the same family. The cause of this variability is largely unknown, but it is hypothesized that...

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PMID: 31395037
DOI: 10.1186/s12885-019-5946-0

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