| 한국인 유방암 및 난소암 환자에서 BRCA1 유전자의 생식선 돌연변이 |
| 오재환, 노동영, 최국진, 강순범, 김이수, 노만수, 백남선, 양대현, 오세민, 이순남, 박재갑 |
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| Germline Mutation of BRCA1 Gene in Korean Breast and Overian Cancer Patients |
| Jae Hwan Oh, Dong Young Noh, Kuk Jin Choe, Soon Beom Kang, Lee Su Kim, Man Su Ro, Nam Sun Paik, Dae Hyun Yang, Se Min Oh, Soon Nam Lee, Jae Gahb Park |
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| ABSTRACT |
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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. |
| Key words:
BRCAl gene |
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