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Mutations in the BRCA2 gene in hepatocellular carcinomas
T Katagiri1, Y Nakamura, Y Miki
1Department of Human Genome Analysis, The Cancer Chemotherapy Center, Japanese Foundation for Cancer Research, Tokyo, Japan.
Cancer Research
|October 15, 1996
Summary
BRCA2 gene mutations were identified in hepatocellular carcinoma but not pancreatic cancer. This suggests BRCA2 inactivation may contribute to liver cancer development.
Area of Science:
- Oncology
- Genetics
- Molecular Biology
Background:
- Hepatocellular carcinoma (HCC) and pancreatic cancer exhibit frequent losses of heterozygosity on chromosome 13q12-13.
- The BRCA2 gene, located on chromosome 13q, is a known tumor suppressor gene.
Purpose of the Study:
- To investigate the role of the BRCA2 gene in the carcinogenesis of HCC and pancreatic cancer.
- To screen for mutations in the coding region of BRCA2 in tumor samples.
Main Methods:
- Screening of the entire coding region of the BRCA2 gene for mutations.
- Analysis of 60 HCC and 36 pancreatic cancer samples.
- Mutation analysis in 194 additional cancer patients and 44 normal controls.
Main Results:
- No BRCA2 alterations were found in pancreatic cancer samples.
- Three mutations were identified in HCC samples: one somatic deletion and two germline missense mutations.
- None of the control individuals carried these identified mutations.
Conclusions:
- BRCA2 inactivation may play a role in the development or progression of hepatocellular carcinoma.
- Mutations in BRCA2 might predispose individuals to liver malignancies.
- BRCA2 does not appear to be significantly involved in pancreatic cancer carcinogenesis.