A Biochemical analysis demonstrates that the BRCA1 intronic variant IVS10-2A→C is a mutation

被引：13

作者：

Keaton, JC

Nielsen, DR

Hendrickson, BC

Pyne, MT

Scheuer, L

Ward, BE

Brothman, AR

Scholl, T

机构：

[1] Myriad Genet Labs, Salt Lake City, UT 84108 USA

[2] Mem Sloan Kettering Canc Ctr, New York, NY 10021 USA

[3] Univ Utah, Sch Med, Dept Pediat, Salt Lake City, UT USA

[4] Univ Utah, Sch Med, Dept Human Genet, Salt Lake City, UT 84132 USA

来源：

JOURNAL OF HUMAN GENETICS | 2003年 / 48卷 / 08期

关键词：

BRCA1; splice; mutation; intron; breast cancer; mRNA;

D O I：

10.1007/s10038-003-0044-0

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Sequence analysis of cDNA from an asymptomatic patient belonging to a high-risk breast cancer family carrying the genetic variant BRCA1 IVS10-2A-->C revealed that functional BRCA1 mRNA was derived from only one of the patient's chromosomes. The other chromosome produced an aberrant RNA splicing transcript that deleted exon 11. Analysis of the patient's genomic DNA demonstrated that the chromosome producing the non-functional mRNA carried the genotype BRCA1 IVS10-2A-->C. This transversion disrupts a highly conserved base in the consensus splice acceptor motif. These results support the conclusion that BRCA1 IVS10-2A-->C is a mutation that confers predisposition to breast and ovarian cancer.

引用

页码：399 / 403

页数：5

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