van Rossum M M, Wopereis D, Hoyer T, Soerjomataram I, Schalkwijk J, van de Kerkhof P C M, Kiemeney L A L M, Hoogerbrugge N
Department of Dermatology, Radboud University Nijmegen Medical Centre, P.O. Box 9101, Nijmegen 6500 HB, The Netherlands.
Arch Dermatol Res. 2009 Apr;301(4):295-9. doi: 10.1007/s00403-008-0913-7. Epub 2008 Nov 5.
There is evidence to suggest that genetic factors play an important role in the development of basal cell carcinomas (BCCs), and that skin neoplasms might be a sign for a genetic predisposition to cancer. We investigated whether the incidence of visceral and skin malignancies among first-degree relatives of BCC-patients was increased. Postal questionnaires were sent to 249 BCC-patients, who were divided into two groups (young = BCC under the age of 51 years and older = BCC over the age of 50 years), and asked them about cancer in their first-degree relatives. The reported numbers of cancer among the relatives were compared with the expected numbers based on sex and age-specific population-based incidence rates. The accuracy of the reported diagnoses was verified. A total of 157 BCC-patients reported 277 malignancies in 1,272 relatives. The incidence of the following cancers was higher than expected in relatives from young BCC-patients: bone and soft tissue (O/E = 3.91; 95% CI: 1.43-8.66), skin (O/E = 2.13; 95% CI: 1.30-3.29) and digestive tract (O/E = 1.59; 95% CI: 1.10-2.23). In relatives of older BCC-patients, only the incidence of digestive tract cancer was higher than expected (O/E = 1.44; 95% CI: 1.08-1.89). Diagnoses that were verified turned out to be accurate in 87% of the cases. This study suggests that the risk of certain cancers, particularly that of the digestive tract, in first-degree relatives of BCC-patients is increased. These findings may indicate a genetic predisposition to both skin and visceral malignancies in this patient group.
有证据表明，遗传因素在基底细胞癌（BCC）的发生发展中起重要作用，且皮肤肿瘤可能是癌症遗传易感性的一个标志。我们调查了BCC患者的一级亲属中内脏和皮肤恶性肿瘤的发病率是否增加。我们向249名BCC患者发送了邮政问卷，这些患者被分为两组（年轻组 = 51岁以下的BCC患者，年长组 = 50岁以上的BCC患者），并询问他们一级亲属中的癌症情况。将亲属中报告的癌症数量与基于性别和年龄特异性人群发病率的预期数量进行比较。核实报告诊断的准确性。共有157名BCC患者报告其1272名亲属中有277例恶性肿瘤。年轻BCC患者亲属中以下癌症的发病率高于预期：骨和软组织（观察值/期望值 = 3.91；95%置信区间：1.43 - 8.66）、皮肤（观察值/期望值 = 2.13；95%置信区间：1.30 - 3.29）和消化道（观察值/期望值 = 1.59；95%置信区间：1.10 - 2.23）。在年长BCC患者的亲属中，只有消化道癌症的发病率高于预期（观察值/期望值 = 1.44；95%置信区间：1.08 - 1.89）。经核实的诊断在87%的病例中被证明是准确的。这项研究表明，BCC患者一级亲属中某些癌症的风险增加，尤其是消化道癌症。这些发现可能表明该患者群体存在皮肤和内脏恶性肿瘤的遗传易感性。
