Article

A novel BRCA1 duplication and new insights on the spectrum and frequency of germline large genomic rearrangements in BRCA1/BRCA2

2021-05-10

Abstract excerpt

<title>Abstract</title> <p>Heritable breast cancers account for 5 to 10% of all breast cancers, and monogenic, highly penetrant genes cause them. Around 90% of pathogenic variants in <italic>BRCA1</italic> and <italic>BRCA2</italic> are observed using gene sequencing, with another 10% identified through gene duplication/deletion analysis, which differs across various communities. In this study, we performed a nex...

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Literature Corpus work: f15c8938-6552-5072-b450-5744c951a0ff
DOI: 10.21203/rs.3.rs-470714/v1

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