KCTD13 a Driver of Neurodevelopmental Phenotypes Associated with the 16p11.2 CNV
Golzio, Willer et al., Nature
An international team led by investigators at Duke University shows that KCTD13 "is a major driver for the neurodevelopmental phenotypes associated with the 16p11.2 CNV [copy-number variant]," a finding that it says substantiates "the idea that one or a small number of transcripts within a CNV can underpin clinical phenotypes, and offer an efficient route to identifying dosage-sensitive loci."
BRCA1 and 2, and the Reduction of Risk
September 01, 2010
Women who carry BRCA1 or 2 mutations and who had mastectomies or salpingo-oophorectomies were found to have a decreased risk of developing breast or ovarian cancer, researchers report in the Journal of the American Medical Association. The researchers, led by the University of Pennsylvania School of Medicine's Timothy Rebbeck followed 2,482 women with BRCA1 or BRCA2 mutations, some of whom then had mastectomies or salpingo-oophorectomies. During the three years of follow-up, none of the women who had mastectomies developed breast cancer in contrast to seven percent of the women who did not have the surgery that did. In addition, three percent of the women who did not have a salpingo-oophorectomy were diagnosed with ovarian cancer while none of the women who underwent surgery were. "The reason we recommend testing is because there's something we can do about it," says Virginia Kaklamani, a co-author of an editorial accompanying the article, to the Wall Street Journal Health Blog.
The removal of a woman's
The removal of a woman's breast will certainly eliminate the risk of breast cancer. The observation that 7 percent of woman with BRCA1 or BRCA2 mutations will start to show signs of breast cancer within 3 years in this study is alarming, although about 1 in 9 (roughly 11%) women in general appear to develop breast cancer in their lifetime. It appears that evidence of BRCA1 or BRCA2 mutations indicate the likelihood of an earlier onset of the disease, but clearly other gene mutations and factors play very significant roles as well. I don't think that anyone would advocate breast removal for women in general as a preventative strategy. In view of the rapid advancements in cancer research, diagnostics and therapeutics development, perhaps more careful monitoring of BRCA1 or BRCA2 mutation-positive is warranted. It might be best to track a wider variety of other oncogenes and tumour-suppressor genes in parallel before such drastic measures are contemplated as simply a preventative measure.