Mutation Location May Predict Cancer Type

By Travis, John | Science News, December 2, 1995 | Go to article overview

Mutation Location May Predict Cancer Type


Travis, John, Science News


Some mutations stop genes cold, preventing them from producing proteins; others force genes to create abbreviated or misshapen molecules that function incorrectly. Consequently, different mutations in the same gene can lead to radically disparate outcomes.

Researchers now have evidence that the site of mutations in the BRCA1 gene, which are responsible for most familial cases of ovarian and breast cancer, may partially determine whether an individual will suffer a particular type of cancer. A new statistical analysis of 32 British families with BRCA1 mutations suggests that when the genetic flaw occurs in one portion of the gene, family members face a lower chance of developing ovarian cancer than when it occurs elsewhere.

If confirmed, the finding may illuminate the roles of BRCA1's protein in breast and ovarian cells and enable physicians to inform patients more accurately of their cancer risks.

"It would be of great clinical importance if this result could be supported by a lot more data," says Simon A. Gayther of the Cancer Research Campaign in Cambridge, England. Gayther and his colleagues discuss their work in the December Nature Genetics.

Cloned about a year ago, BRCA1 has quickly become one of the most thoroughly studied genes of all time. In February, for example, a large group of researchers reported on an extensive survey of BRCA1 mutations in women with breast or ovarian cancer (SN: 2/25/95, p.119). Though the result was not statistically significant, says Gayther, the survey "hinted" that the site of BRCA1's mutation might make a difference in cancer type. …

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