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Discovery of BRCA1/BRCA2 founder variants by haplotype analysis.

Cancer genetics - 1 Aug 2022

Kwon Won Kyung, Jang Hyeok-Jae, Lee Jeong Eon, Park Yeon Hee, Ryu Jai Min, Yu Jonghan, Jang Ja-Hyun, Kim Jong-Won

Abstract excerpt

A significant number of hereditary breast or ovarian cancers are caused by germline variants, mostly BRCA1/BRCA2 genes. Because genetic predispositions vary by ethnicity, several studies have reported founder variants of BRCA1/BRCA2 genes. Such founder variants were reported primarily based on their relevant population frequencies. We reviewed the variant data relating to BRCA1 and BRCA2 genes from January 2012...

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PMID: 35671604
DOI: 10.1016/j.cancergen.2022.05.042

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