Inherited pancreatic cancer syndromes.
Inherited pancreatic cancer syndromes.
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DOI：
10.1097/ppo.0b013e318278c4a6
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发表时间：
2012-11
期刊：
影响因子：
--
通讯作者：
Whitcomb DC
中科院分区：
文献类型：
--
作者：
Solomon S;Das S;Brand R;Whitcomb DC
胰腺癌仍然是所有癌症中最具挑战性的癌症之一。遗传风险因素被认为是主要因素，但除了血型基因编码外，散发病例的遗传风险仍然难以捉摸。然而，已经确定了几种生殖系突变可导致遗传性胰腺癌、家族性胰腺癌和作为家族性癌症综合征一部分的胰腺癌风险增加。最重要的突变增加胰腺癌风险的基因包括BRCA1、BRCA2、PALB2、ATM、CDKN2A、APC、MLH1、MSH2、MSH6、PMS2、PRSS1和STK11。认识到高危家族成员对于了解胰腺癌生物学、推荐降低风险的策略以及在某些情况下启动癌症监测项目都很重要。由于最佳的监测方法尚未确定，因此推荐高危患者到正在进行胰腺癌监测研究项目的中心就诊。
Pancreatic cancer remains one of the most challenging of all cancers. Genetic risk factors are believed to play a major role, but other than genes coding for blood group, genetic risks for sporadic cases remain elusive. However, several germline mutations have been identified that lead to hereditary pancreatic cancer, familial pancreatic cancer and increased risk for pancreatic cancer as part of a familial cancer syndrome. The most important genes with variants increasing risk for pancreatic cancer include BRCA1, BRCA2, PALB2, ATM, CDKN2A, APC, MLH1, MSH2, MSH6, PMS2, PRSS1 and STK11. Recognition of members of high-risk families is important for understanding pancreatic cancer biology, for recommending risk reduction strategies and, in some cases, initiating cancer surveillance programs. Because the best methods for surveillance have not been established the recommendation to refer at-risk patients to centers with ongoing research programs in pancreatic cancer surveillance is supported.