Article
Characteristics of double heterozygosity for BRCA1 and BRCA2 germline mutations in Korean breast cancer patients.
Breast cancer research and treatment - 1 Jan 2012
Noh Jae Myoung, Choi Doo Ho, Nam Seok Jin, Lee Jeong Eon, Kim Jong Won, Kim Sung-Won, Kang Eunyoung, Lee Min Hyuk, Ahn Sei Hyun, Kim Ku Sang, Park Sue K, Haffty Bruce G
Abstract excerpt
To investigate clinical, pathological, and familial characteristics of Korean patients with double heterozygosity for BRCA1 and BRCA2 mutations, six breast tumors of five patients who carried deleterious mutations in both of the genes were included. Medical records of the patients were reviewed and genetic testing by direct sequencing was undertaken to detect mutations in BRCA1 and BRCA2. Seven frameshift and...
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