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Title   한국인 유방암 및 난소암 환자에서 BRCA1 유전자의 생식선 돌연변이 ( Germline Mutation of BRCA1 Gene in Korean Breast and Overian Cancer Patients )
Publicationinfo   1995 Jan; 027(06): 1061-1070.
Key_word   BRCAl gene
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Abstract   We analyzed germline mutations of the BRCAl gene in 29 Korean breast cancer patients, which included ¨c 10 breast cancer patients with family history of breast or ovarian cancer, ¨e 7 early onset breast cancer patients without family history of breast or ovarian cancer(1ess than 40 years old at diagnosis) and ¨e 12 breast cancer patients without family history of breast or ovarian cancer(more than 40 years old at diagnosis), and 1 hereditary ovarian cancer patient. One nonsense mutation at codon 1815 encoding a truncated protein was detected in a breast cancer patient with family history of ovarian cancer. One missense mutation at codon 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.
저 자   오재환(Jae Hwan Oh),노동영(Dong Young Noh),최국진(Kuk Jin Choe),강순범(Soon Beom Kang),김이수(Lee Su Kim),노만수(Man Su Ro),백남선(Nam Sun Paik),양대현(Dae Hyun Yang),오세민(Se Min Oh),이순남(Soon Nam Lee),박재갑(Jae Gahb Park)