Word: defectiveness
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...newly discovered defect does not in itself produce cancer in the way that an inherited defect causes cystic fibrosis or sickle-cell anemia. "What the mutant gene does is create a predisposition to cancer," Vogelstein explains. "And it's only with additional mutations after birth that the cancer will appear...
...past, most genes linked to cancer, including a few linked to colon cancer, have been genes that play a role in regulating cell division, in some cases stopping cell growth when DNA is damaged. When such genes are themselves deranged, genetic errors can rapidly accumulate. But the newly discovered defect is not in a damage- control gene. Instead, it seems to be a direct agent of damage that somehow unleashes wave upon wave of DNA mutations over the course of a lifetime. As a result, a single inherited trait leads to "tens of thousands of alterations throughout the genome," Vogelstein...
Vogelstein expects that within three years there will be a better diagnostic test based on the newly discovered genetic defect. The first to benefit from such a blood test will be the 5 million to 10 million Americans who are now considered to be at an increased risk of colon cancer because of a strong family history (usually defined as having three or more relatives with the disease, one of them stricken before age 50). The test could cost $300 a family, according to Vogelstein. About three-fourths of family members will learn that they do not carry the gene...
...inherited defect triggers colon tumors and other cancers...
...some questions remain, according to Williams. Last year, the same research group demonstrated an association of the same gene defect with normal hypertension. Why, he asked, are preeclamptic women not prone to develop normal hypertension later in life...