SOMATIC MUTATIONS IN THE BRCA1 GENE IN SPORADIC OVARIAN-TUMORS

被引：364

作者：

MERAJVER, SD

PHAM, TM

CADUFF, RF

CHEN, M

POY, EL

COONEY, KA

WEBER, BL

COLLINS, FS

JOHNSTON, C

FRANK, TS

机构：

[1] UNIV MICHIGAN, SCH MED, DEPT PATHOL, ANN ARBOR, MI 48109 USA

[2] UNIV MICHIGAN, SCH MED, DEPT OBSTET & GYNECOL, ANN ARBOR, MI 48109 USA

[3] UNIV PENN, SCH MED, DEPT GENET, PHILADELPHIA, PA 19104 USA

[4] UNIV PENN, SCH MED, DEPT INTERNAL MED, PHILADELPHIA, PA 19104 USA

[5] NIH, NATL CTR HUMAN GENOME RES, BETHESDA, MD 20892 USA

来源：

NATURE GENETICS | 1995年 / 9卷 / 04期

关键词：

D O I：

10.1038/ng0495-439

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

The BRCA1 gene on chromosome 17q21 is responsible for an autosomal dominant syndrome of increased susceptibility to breast and ovarian cancer but no somatic mutations in tumours have yet been described. To study the potential role of BRCA1 in sporadic carcinogenesis, we analysed the genomic DNA of tumour and normal fractions of 47 ovarian cancers for mutations in BRCA1 using the single-strand conformation polymorphism technique. We now describe somatic mutations in the DNA of four tumours which also had loss of heterozygosity (LOH) at a BRCA1 intragenic marker. Our data support a tumour suppressor mechanism for BRCA1; somatic mutations and LOH may result in inactivation of BRCA1 in at least a small number of ovarian cancers.

引用

页码：439 / 443

页数：5

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