Dubosson J D
J Genet Hum. 1977 Dec;25(4):233-78.
An account is given of a family from the Canton of Valais, suffering from hereditary adenocarcinomatosis. The pedigree extends over four generations; the first three comprise 47 individuals (28 males, 19 females), of whom 21 (16 males and 5 females), i.e. 44.6%, are affected with malignant tumours. Of the 32 people in the fourth generation, only one individual is affected to date (a girl aged 21, IV/14). There were 27 tumours in all: 16 adenocarcinomas of the colon, two gastric adenocarcinomas, one duodenal adenocarcinoma, one rectal adenocarcinoma, one papillary carcinoma of the ovary, one osseous sarcoma, one cutaneous fibrosarcoma, a multiform glioblastoma of the basal nuclei of the brain, a basocellular epithelioma, also a cerebral metastasis from an adenocarcinoma, the origin of which has not been established, and a tumour invading the biliary tract. Three members of the family suffered from multiple tumours. In three of the patients, the colonic adenocarcinoma was accompanied by one or two polyps. The average age at the onset for all the tumours was 45 years. It was definitely lower in the third than the second generation (anticipation). The transmission was autosomal dominant, with predilection for the male sex (57.1% male and 26.3% female patients). The penetrance was about 80%. The author finally discusses the diagnostic criteria for hereditary adenocarcinoma and reviews the different familial forms of cancer.
本文介绍了一个来自瓦莱州的家族，该家族患有遗传性腺癌。家系延续了四代；前三代包括47人（28名男性，19名女性），其中21人（16名男性和5名女性），即44.6%，患有恶性肿瘤。在第四代的32人中，迄今为止只有一人患病（一名21岁的女孩，IV/14）。总共有27个肿瘤：16例结肠腺癌、2例胃腺癌、1例十二指肠腺癌、1例直肠腺癌、1例卵巢乳头状癌、1例骨肉瘤、1例皮肤纤维肉瘤、1例脑基底核多形性胶质母细胞瘤、1例基底细胞上皮瘤、还有一例腺癌脑转移瘤（其原发部位尚未确定）以及1例侵犯胆道的肿瘤。该家族中有三名成员患有多种肿瘤。在三名患者中，结肠腺癌伴有一两个息肉。所有肿瘤的平均发病年龄为45岁。第三代的发病年龄肯定低于第二代（遗传早现）。遗传方式为常染色体显性遗传，男性更易患病（男性患者占57.1%，女性患者占26.3%）。外显率约为80%。作者最后讨论了遗传性腺癌的诊断标准，并回顾了不同的家族性癌症形式。
