德国癌症援助协会4月19日发表公报说，德国研究人员最近发现了可导致乳腺癌和卵巢癌的一个新易感基因。
公报说，由德国12所大学研究人员参加的德国家族性乳腺癌和卵巢癌研究组织对1100个有家族病史的家庭进行了基因组相关性研究，并发现了这个被命名为RAD51C的新易感基因。
有关专家说，此前人们已知的两个乳腺癌和卵巢癌易感基因是15年前发现的，分别为BRCA1和BRCA2，它们发生变异会导致乳腺癌或卵巢癌。本次接受研究的家庭成员已被确认没有BRCA1和BRCA2基因变异。
研究人员说，因为目前只有大约60%的高风险家庭携带已知的乳腺癌和卵巢癌易感基因，乳腺癌和卵巢癌可能还有其他易感基因。确定易感基因是提高早期诊断率的重要前提。
这一研究成果已发表在最新一期英国《自然—遗传学》杂志上。
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《自然—遗传学》发表论文摘要（英文）
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 Deißler,Christoph Engel,Bertram Müller-Myhsok,Kornelia Neveling,Marion Kiechle,Christopher G Mathew,Detlev Schindler,Rita K Schmutzler" Helmut Hanenberg
Journal name:
Nature Genetics
Year published:
(2010)
DOI:
doi:10.1038/ng.569
Received 05 November 2009 Accepted 22 March 2010 Published online 18 April 2010
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.
