Purtilo D T, Geelhoed G W, Li F P, Yang J P, Thurber W A, Darrah J, Cassel C
Cancer Genet Cytogenet. 1987 Jan;24(1):11-5. doi: 10.1016/0165-4608(87)90079-3.
Carcinoma of the large bowel developed in an autosomal dominant pattern in 13 members of a black-American family. Seven members were affected prior to initial ascertainment of the family in 1976. Thereafter, the remaining six were affected while 0.2 cases were expected (p less than 0.001). Median age at diagnosis of colon cancer was 39 years (range, 22-62 years) in this family, compared with 65 years among black-Americans, in general. Histologic review of surgical specimens from six patients and medical record data for a seventh patient showed mucinous adenocarcinoma of the colon, an uncommon histologic variant. Studies of several family members a decade ago had revealed no biologic markers of cancer susceptibility.
在美国一个黑人家庭的13名成员中,大肠癌以常染色体显性模式发展。1976年首次确认该家族时,已有7名成员患病。此后,又有6名成员患病,而预期仅为0.2例(p<0.001)。该家族中结肠癌诊断的中位年龄为39岁(范围22 - 62岁),而一般美国黑人的中位年龄为65岁。对6名患者手术标本的组织学检查以及第7名患者的病历数据显示为结肠黏液腺癌,这是一种不常见的组织学变体。十年前对几名家族成员的研究未发现癌症易感性的生物学标志物。