4月19日,，德國癌癥援助協(xié)會發(fā)表公報說，德國研究人員最近發(fā)現(xiàn)了可導(dǎo)致乳腺癌和卵巢癌的一個新易感基因,。
公報說,，由德國12所大學(xué)研究人員參加的德國家族性乳腺癌和卵巢癌研究組織對1100個有家族病史的家庭進(jìn)行了基因組相關(guān)性研究，并發(fā)現(xiàn)了這個被命名為RAD51C的新易感基因,。
有關(guān)專家說,，此前人們已知的兩個乳腺癌和卵巢癌易感基因是15年前發(fā)現(xiàn)的，分別為BRCA1和BRCA2,，它們發(fā)生變異會導(dǎo)致乳腺癌或卵巢癌,。本次接受研究的家庭成員已被確認(rèn)沒有BRCA1和BRCA2基因變異。
研究人員說,，因為目前只有大約60％的高風(fēng)險家庭攜帶已知的乳腺癌和卵巢癌易感基因,，乳腺癌和卵巢癌可能還有其他易感基因。確定易感基因是提高早期診斷率的重要前提,。
這一研究成果已發(fā)表在最新一期英國《自然·遺傳學(xué)》雜志上,。(生物谷Bioon.com)
生物谷推薦原文出處：
Nature Genetics (2010) doi:10.1038/ng.569
Germline mutations in breast and ovarian cancer pedigrees establish RAD51C as a human cancer susceptibility gene
Alfons Meindl, Heide Hellebrand, Constanze Wiek, Verena Erven, Barbara Wappenschmidt, Dieter Niederacher, Marcel Freund, Peter Lichtner, Linda Hartmann, Heiner Schaal, Juliane Ramser, Ellen Honisch, Christian Kubisch, Hans E Wichmann, Karin Kast, Helmut Dei?ler, Christoph Engel, Bertram Müller-Myhsok, Kornelia Neveling, Marion Kiechle, Christopher G Mathew, Detlev Schindler, Rita K Schmutzler & Helmut Hanenberg
Germline mutations in a number of genes involved in the recombinational repair of DNA double-strand breaks are associated with predisposition to breast and ovarian cancer. RAD51C is essential for homologous recombination repair, and a biallelic missense mutation can cause a Fanconi anemia–like phenotype. In index cases from 1,100 German families with gynecological malignancies, we identified six monoallelic pathogenic mutations in RAD51C that confer an increased risk for breast and ovarian cancer. These include two frameshift-causing insertions, two splice-site mutations and two nonfunctional missense mutations. The mutations were found exclusively within 480 pedigrees with the occurrence of both breast and ovarian tumors (BC/OC; 1.3%) and not in 620 pedigrees with breast cancer only or in 2,912 healthy German controls. These results provide the first unambiguous evidence of highly penetrant mutations associated with human cancer in a RAD51 paralog and support the 'common disease, rare allele' hypothesis.
