Characterization of the neoplastic phenotype in the familial atypical multiple-mole melanoma-pancreatic carcinoma syndrome.
Characterization of the neoplastic phenotype in the familial atypical multiple-mole melanoma-pancreatic carcinoma syndrome.
复制标题
家族性非典型多痣黑色素瘤-胰腺癌综合征肿瘤表型的特征。
DOI：
10.1002/cncr.11562
复制
发表时间：
2003
期刊：
影响因子：
--
通讯作者：
Austin,MelissaA
中科院分区：
文献类型：
--
作者：
Rulyak,StephenJ;Brentnall,TeresaA;Lynch,HenryT;Austin,MelissaA
BACKGROUNDPrevious studies suggest that the familial atypical multiple‐mole melanoma (FAMMM) syndrome may predispose affected families to nonmelanoma carcinomas, including adenocarcinoma of the pancreas. It has been found that many of these families harbor mutations in theCDKN2Agene on chromosome 9p21. The phenotypic expression ofCDKN2Amutations in these families has not been characterized fully.METHODSThe authors studied eight families that appeared to inherit multiple nevi, cutaneous melanomas, and pancreatic carcinomas in association with aCDKN2Agermline mutation. The expression of disease within these families was examined, and segregation ratios were estimated to assess the patterns of inheritance according to various definitions of phenotype.RESULTSEither multiple nevi or pancreatic carcinoma was diagnosed in 53% of first‐degree relatives of the probands. The offspring of parents affected with multiple nevi, melanoma, or pancreatic carcinoma were significantly more likely to be affected themselves compared with the offspring of unaffected parents (48.9% vs. 16.7%;P= 0.004).CONCLUSIONSThe current results provide additional evidence that multiple nevi, melanoma, or pancreatic carcinoma may be inherited as autosomal‐dominant traits in families known to harborCDKN2Amutations. Other malignancies may be a part of the phenotype in these families, although this hypothesis requires additional study. Cancer 2003;98:798–804. © 2003 American Cancer Society.DOI 10.1002/cncr.11562
