FAMILIAL PANCREATIC ADENOCARCINOMA - ASSOCIATION WITH DIABETES AND EARLY MOLECULAR DIAGNOSIS
FAMILIAL PANCREATIC ADENOCARCINOMA - ASSOCIATION WITH DIABETES AND EARLY MOLECULAR DIAGNOSIS
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DOI：
10.1136/jmg.32.5.330
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发表时间：
1995-05-01
影响因子：
4
通讯作者：
BYRD, DR
中科院分区：
文献类型：
--
作者：
EVANS, JP;BURKE, W;BYRD, DR
我们报告了一个大的家系，其中胰腺癌是遗传在一个常染色体显性的方式。糖尿病和外分泌功能不全的所有家庭成员谁最终发展为胰腺癌。糖尿病的存在，通常在癌症诊断前几年，允许识别那些遗传了易感等位基因的人，因此他们有患恶性肿瘤的高风险。这个家族倾向于认为遗传因素对胰腺癌和糖尿病的发展有显著的影响。此外，家族成员胰腺癌的临床前诊断为研究伴随人类胰腺癌发展的早期分子变化提供了独特的机会。最后，分子方法应用于胰腺癌的早期诊断，可能证明有价值的，在这个家庭中，确定受试者的风险。
We report a large pedigree in which pancreatic cancer is inherited in an autosomal dominant fashion. Diabetes and exocrine insufficiency was observed in all family members who eventually developed pancreatic cancer. The presence of diabetes, often years before the diagnosis of cancer, allowed identification of those people who had inherited the predisposing allele and who were thus at high risk for the development of malignancy. This family skews that genetic factors can have a striking effect on the development of pancreatic malignancy and diabetes mellitus. Moreover, preclinical diagnosis of pancreatic cancer in family members provided a unique opportunity to study early molecular changes that accompany the development of human pancreatic cancer. Finally, the molecular approach applied here to the early diagnosis of pancreatic cancer may prove valuable in this family for identification of subjects at risk.