Evans J P, Burke W, Chen R, Bennett R L, Schmidt R A, Dellinger E P, Kimmey M, Crispin D, Brentnall T A, Byrd D R
Department of Medicine, University of North Carolina, Chapel Hill 27599, USA.
J Med Genet. 1995 May;32(5):330-5. doi: 10.1136/jmg.32.5.330.
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 shows 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.
我们报告了一个大家族，其中胰腺癌以常染色体显性方式遗传。在所有最终患胰腺癌的家族成员中均观察到糖尿病和外分泌功能不全。糖尿病的存在，通常在癌症诊断前数年，使得能够识别那些遗传了易感等位基因、因而患恶性肿瘤风险高的人。这个家族表明，遗传因素对胰腺恶性肿瘤和糖尿病的发生发展可产生显著影响。此外，对家族成员进行胰腺癌的临床前诊断，为研究人类胰腺癌发生过程中伴随的早期分子变化提供了独特机会。最后，这里应用于胰腺癌早期诊断的分子方法，在这个家族中可能对于识别有风险的个体具有重要价值。
