한국인 유방암 및 난소암 환자에서 BRCA 1 유전자의 생식선 돌연변이
Germiline Mutation of BRCA1 Gene in Korean Breast and Ovarian Cancer Patients
대한암학회지 1995년 27권 6호 p.1061 ~ 1069
소속 상세정보
오재환
노동영/최국진/강순범/김이수/노만수/백남선/양대현/오세민
KMID : 0360319950270061061
Abstract
We analyzed germline mutations of the BRCAL gene in 29 Korean breast cancer patients, which included ①10 breast cancer patients with family history of breast or ovarian cancer, ② 7 early onset breast cancer patients without family history of
breast or
ovarian cancer(less than 40 years old at diagnosis) and ③12 breast cancer patients witout family history of breast or ovarian cancer(more than 40 years old at diagnosis), and 1 hereditary ovarian cancer patients, One nonsense mutation at codon
1815
encoding a truncated protein was detected in a breast cancer patients with family history of ovarian cancer. One missense mutation at condon 1630 was detected in a group of breast cancer patients without family history(more than 40 years old at
diagnosis), but still not determined whether it was polymorphism or not. Three polymorphisms were detected, which included 2 cases of silent mutation and a case of missense mutation. In early onset breast cancer group and a familial ovarian
cancer
patient, there was no detected mutation. We confirmed a germline BRCAL gene mutation in one Korean patient of hereditary breast-ovarian cancer family.
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