Grover S, Quinn M A, Weideman P
Department of Obstetrics and Gynaecology, University of Melbourne, Royal Women's Hospital, Carlton, Victoria, Australia.
Cancer. 1993 Jul 15;72(2):526-30. doi: 10.1002/1097-0142(19930715)72:2<526::aid-cncr2820720232>3.0.co;2-4.
A variety of inheritance patterns for familial ovarian cancer have been proposed including an autosomal dominant inheritance, a breast-ovary cancer syndrome and Lynch Cancer Family Syndrome (involving breast, bowel, ovary, and endometrial cancers).
Women participating in an ovarian cancer screening study completed a questionnaire concerning their family history of ovarian and other malignancies (in particular breast, bowel, and endometrial cancer). Confirmation of the diagnosis was sought when there was uncertainty.
Two hundred forty women with a first-degree relative with ovarian cancer participated in the study. Nine percent of these women (representing 13 families) gave a definite history of two or more affected first-degree relatives. Two families had a pedigree consistent with an autosomal dominant inheritance. A breast-ovary cancer family and a Lynch cancer family syndrome were suspected in one family each, although 34% of all women gave a history of at least one other first-degree relative with either breast, bowel, or endometrial cancer.
Only a small number of women with a family history of ovarian cancer fit into the recognized hereditary patterns. Difficulty in recognizing the inheritance patterns and the lack of definitive genetic markers poses problems in providing adequate counseling regarding screening and prophylactic oophorectomy.
对于家族性卵巢癌已提出多种遗传模式，包括常染色体显性遗传、乳腺癌 - 卵巢癌综合征以及林奇癌症家族综合征（涉及乳腺癌、肠癌、卵巢癌和子宫内膜癌）。
参与卵巢癌筛查研究的女性完成了一份关于其卵巢癌及其他恶性肿瘤（特别是乳腺癌、肠癌和子宫内膜癌）家族史的问卷。当存在不确定性时，寻求确诊。
240名有卵巢癌一级亲属的女性参与了该研究。这些女性中有9%（代表13个家族）明确有两个或更多受影响的一级亲属。两个家族的系谱符合常染色体显性遗传。各有一个家族疑似为乳腺癌 - 卵巢癌家族和林奇癌症家族综合征，尽管所有女性中有34%有至少一位其他患乳腺癌、肠癌或子宫内膜癌的一级亲属。
仅有少数有卵巢癌家族史的女性符合公认的遗传模式。识别遗传模式的困难以及缺乏明确的遗传标记给提供关于筛查和预防性卵巢切除术的充分咨询带来了问题。
