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© 1995 Oxford University Press

OTHER

Mutation analysis of the BRCA1 gene in 76 Japanese ovarian cancer patients: four germline mutations, but no evidence of somatic mutation

Mieko Matsushima1,2, Kanji Kobayashi1, Mitsuru Eml3, Junko Saito4, Kaoru Suzumori2 and Yusuke Nakamura1,*

1Laboratory of Molecular Medicine, Institute of Medical Science, University of Tokyo 4-6-1 Shirokanedai, Minato-ku, Tokyo 108 2Department of Obstetrics and Gynecology Nagoya City University, Nagoya 467 3Department of Biochemistry, Cancer Institute Tokyo 170 4Department of Obstetrics and Gynecology, Kinki University Osaka 589, Japan

*To whom correspondence should be addressed

Received July 1, 1995; Revised July 24, 1995; Accepted July 24, 1995

To investigate the putative role of BRCA1, a gene involved in hereditary breast and ovarian cancer, in sporadic ovarian tumors among Japanese women, we examined 76 unselected primary ovarian cancers for mutations in the coding region of BRCA1 using the single-strand conformation polymorphism technique. Although no somatic mutations were detected in any of the tumors, constitutional mutations were identified in four cases: two frameshifts, one non sense mutation and one intronic base substitution 32 bp downstream of exon 22; RT-PCR experiments revealed that the single-base substitution in the intron seemed to increase the transcript lacking exon 22. All four cases were judged to involve truncation of the gene product. The evidence reported here supports a rather limited role of BRCA1 in ovarian carcinogenesis in the Japanese population.


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