ArticleJapanese journal of cancer research : Gann1997
Mutational analysis of BRCA1 gene in ovarian and breast-ovarian cancer families in Japan.
Article in Japanese journal of cancer research : Gann, 1997. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers.
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5 citing papers in PubMed, 21 citations in OpenAlex.
- Germline mutations in cancer-predisposition genes in patients with biliary tract cancer.Oncotarget · 2019Article
- Identification and evaluation of 55 genetic variations in the BRCA1 and the BRCA2 genes of patients from 50 Japanese breast cancer families.Journal of human genetics · 2004Article
- Screening of BRCA1 mutation using immunohistochemical staining with C-terminal and N-terminal antibodies in familial ovarian cancers.Japanese journal of cancer research : Gann · 2000Article
- The genetics of inherited breast cancer.Journal of mammary gland biology and neoplasia · 1998Review
- Nonsense mutation at codon 63 of the BRCA1 gene in Japanese breast cancer patients.Japanese journal of cancer research : Gann · 1998Article
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Authors and funding
18 authors at 10 institutions in 2 countries.
Funding
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Abstract
We analyzed the alteration of BRCA1 in DNA obtained from 83 individuals of 13 Japanese site-specific ovarian cancer families and 6 breast-ovarian cancer families. Six germline mutations were detected in 7 families, which consisted of 4 breast-ovarian cancer and 3 site-specific ovarian cancer families, by single-strand conformation polymorphism analysis, followed by direct sequence determination. The mutations included three frameshifts, two nonsense mutations, and one missense mutation causing loss of a zinc-binding motif. The frequency of loss of heterozygosity at the microsatellite markers on the BRCA1 gene was 57% (8 of 14 cases) in site-specific ovarian cancer families, and 100% (6 of 6 cases) in breast-ovarian cancer families. All tumors of the patients carrying a mutation of BRCA1 showed deletion of wild-type alleles, implicating BRCA1 as a tumor suppressor gene. These results suggest that germline mutations of the BRCA1 gene play an important role in the carcinogenesis of breast and/or ovarian cancer in a majority of breast-ovarian cancer families and in some site-specific ovarian cancer families.
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