Fam Cancer. 2012 Dec;11(4):681-3. doi: 10.1007/s10689-012-9562-2.
Several studies report an increased risk of breast/pancreatic cancer in MMR (DNA mismatch repair) mutation carriers that has significant consequences on standard cancer screening in such population. The French national network involved in Lynch syndrome molecular characterization registered 15 families with an identified MMR germline mutation and the occurrence of breast/pancreatic adenocarcinoma in mutations carriers. Corresponding tumors were investigated and the MMR function was shown to be intact. This observation tends to exclude breast/pancreatic cancers from Lynch tumor spectrum defined by a complete loss of the MMR function in tumor cells and to support the hypothesis of another causal factor.
一些研究报告称，在 MMR（DNA 错配修复）突变携带者中，乳腺癌/胰腺癌的风险增加，这对该人群的标准癌症筛查有重大影响。涉及林奇综合征分子特征的法国国家网络登记了 15 个具有确定的 MMR 种系突变的家族，以及突变携带者中乳腺癌/胰腺腺癌的发生。对相应的肿瘤进行了研究，结果显示 MMR 功能完整。这一观察结果倾向于将乳腺癌/胰腺癌从由肿瘤细胞中 MMR 功能完全丧失定义的林奇肿瘤谱中排除，并支持另一个因果因素的假设。
