Forman D, Oliver R T, Brett A R, Marsh S G, Moses J H, Bodmer J G, Chilvers C E, Pike M C
ICRF Cancer Epidemiology Unit, Radcliffe Infirmary, Oxford, UK.
Br J Cancer. 1992 Feb;65(2):255-62. doi: 10.1038/bjc.1992.51.
Forty-two families with two or more cases of testicular cancer have been reported to the UK Register for Familial Testicular Cancer, comprising two pairs of identical twins, 27 sets of other brothers (25 pairs, two triples), nine father-son pairs, two pairs of first cousins and two uncle-nephew pairs. In total 91 testicular tumours are described in 86 individuals (42 (46%) pure seminoma, 49 (54%) other germ cell tumours). The median age at diagnosis in these patients was significantly younger than that in a comparable series of non-familial patients (29 c.f. 32.5 years, P less than 0.01). In a case-control comparison of 794 testicular cancer patients, eight patients (1.0%) had a brother and four patients (0.5%) had a father with a previous diagnosis of testicular cancer at the time of their own diagnosis (and these families are all included in this report). Two out of 794 controls (0.3%) had a first degree relative with testicular cancer. The cumulative risk to a brother of a patient for developing testicular cancer by the age of 50 years was estimated to be 2.2% (95% C.I. 0.6-3.8%) which results in a relative risk of 9.8 (95% C.I. 2.8-16.7) in comparison with the general population. HLA Class I typing of 21 affected sib-pairs demonstrated four (19%) sharing two haplotypes, 13 pairs (62%) sharing one and four pairs (19%) sharing none. This did not differ significantly from the expected proportions of 25%/50%/25%. It is unlikely, therefore, that there is a major gene associated with testicular cancer predisposition within or closely linked to the major histocompatibility gene complex on chromosome 6.
已有42个家庭向英国家族性睾丸癌登记处报告了两例或更多例睾丸癌病例，其中包括两对同卵双胞胎、27组其他兄弟（25对，两组三胞胎）、9对父子、两对第一代堂兄弟以及两对叔侄。总共86人患有91例睾丸肿瘤（42例（46%）为纯精原细胞瘤，49例（54%）为其他生殖细胞肿瘤）。这些患者的诊断中位年龄明显低于一组类似的非家族性患者（29岁对比32.5岁，P小于0.01）。在一项对794例睾丸癌患者的病例对照研究中，8例患者（1.0%）有兄弟患过睾丸癌，4例患者（0.5%）有父亲在其自身诊断时曾被诊断为睾丸癌（这些家庭均包含在本报告中）。794名对照中有2例（0.3%）有患睾丸癌的一级亲属。据估计，患者的兄弟在50岁前患睾丸癌的累积风险为2.2%（95%置信区间0.6 - 3.8%），与一般人群相比，相对风险为9.8（95%置信区间2.8 - 16.7）。对21对患病同胞进行的HLA I类分型显示，4对（19%）共享两个单倍型，13对（62%）共享一个，4对（19%）无共享。这与预期比例25%/50%/25%无显著差异。因此，不太可能在6号染色体上的主要组织相容性基因复合体内或与之紧密连锁存在与睾丸癌易感性相关的主要基因。
