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J Korean Cancer Assoc > Volume 29(5); 1997 > Article
Journal of the Korean Cancer Association 1997;29(5): 713-723.
Germline Mutations of BRCA1 Gene in Korean Breast and/or Ovarian Cancer Families
Yong Jin Won, Jae Hwan Oh, Xiao Hong Huang, Dong Young Noh, Kuk Jin Choe, Soon Beom Kang, Lee Su Kim, Man Su Noh, Nam Sun Paik, Dae Hyun Yang, Se Min Oh, Soon Nam Lee, Jae Gahb Park
1Korean Hereditary Tumor Registry.
2Laboratory of Cell Biology.
3Cancer Research Center.
4Cancer Research Institute Seoul National University College of Medicine, Seoul, Korea.
To understand the involvement of BRCA1 gene in Korean breast and/or ovarian cancer families.
Germline mutations of BRCA1 gene were analyzed in 13 families which included 3 hereditary site-specific breast cancer families, 6 suspected breast cancer families, and 3 suspected breast-ovarian cancer family, and one Li-Fraumeni family by screening BRCA1 gene using single strand conformation polymorphism (SSCP) analysis on polymerase chain reaction (PCR) amplified genomic DNA and confirmed the results by sequencing.
Including one family with previously reported nonsense mutation of BRCA1 gene, we detected two mutations in unrelated families. One newly identified mutation was frame shift mutation resulting from TG deletion in codon 1701, which results in a truncated BRCA1 protein, at codon 1714.
The proportion of families who inherit the mutated BRCA1 gene seems to be small among Korean breast and/or ovarian cancer families.
Key words: BRCA1;PCR-SSCP;Sequencing
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