研究人员发现导致乳腺、子宫癌变的新基因
The discovery 15 years ago that the genes BRCA1 and BRCA2 confer(授予,给予) high risks for breast and ovarian(卵巢的,子房的) cancer was a breakthrough for cancer prediction and therapy, especially for familial cases. Now the research group of Prof. Alfons Meindl (Klinikum rechts der Isar伊萨尔河畔的临床教学中心 of the Technische Universitaet Muenchen), in collaboration(合作,通敌) with other groups from Germany, the U.K., and the U.S., can identify another gene that increases susceptibility(敏感性,感情) to breast and ovarian cancer. Their results have been published online in Nature Genetics. The identification of such high risk-conferring genes is a prerequisite(先决条件) for offering women tailored early recognition programs and more individualized therapies. The gene newly identified as causing breast and ovarian cancer in familial cases is designated RAD51C. It is, like BRCA1 and BRCA2, essential for DNA repair within cells. Mutations in the gene can therefore cause either breast or ovarian cancer. In six out of 480 pedigrees with occurrence of breast and/or ovarian cancer, mutations within the RAD51C gene were found. The risk for breast cancer in women with mutation of RAD51C is 60 to 80 percent, for ovarian cancer 20 to 40 percent. As the cancers in such families were diagnosed significantly earlier than in women who developed sporadic(零星的,分散的) breast or ovarian cancer, experts might also call the newly identified gene BRCA3.
"These results reinforce(加强,补充) our assumption that various rare gene mutations contribute to hereditary(遗传的,世袭的) breast and ovarian cancer. The now known genes that predispose(预先处理) women to breast and/or ovarian cancer only explain 60 percent of the high-risk families," says TUM Professor Alfons Meindl, Klinikum rechts der Isar, but novel technologies allow the rapid identification of other such rarely mutated disease-causing genes.
"We are also optimistic that in the future the individual breast cancer risks for the majority of women can be determined. These risk predictions will allow the offering of tailored prevention and small meshed(网状的,有网孔的) early recognition programs. Risk-aligned prevention will become a new clinical area," explains Prof. Dr. Rita Schmutzler of the University Hospital of Cologne, one of the other main authors of the article.