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瑞典的遗传性乳腺癌:母系遗传病例占主导。

Hereditary breast cancer in Sweden: a predominance of maternally inherited cases.

作者信息

Lindblom A, Rotstein S, Larsson C, Nordenskjöld M, Iselius L

机构信息

Department of Clinical Genetics, Karolinska Hospital, Stockholm, Sweden.

出版信息

Breast Cancer Res Treat. 1992;24(2):159-65. doi: 10.1007/BF01961248.

Abstract

The family history of breast cancer was studied in 1975 breast cancer patients of all ages. All the patients were found in an ongoing care program for breast cancer patients in the Stockholm area. One hundred and thirty-three families (6.7%) with hereditary breast cancer, 87 (4.4%) families with hereditary breast- and other cancers, and 14 (0.7%) families with the SBLA syndrome were found. There was no association between familiarity and bilateral disease, but familial cases tended to be younger at the time of diagnosis. Determination of the parental origin of the disease gene among the index cases revealed twice as many cases where the disease was maternally transmitted. This might be due to a better prognosis when the predisposing gene is maternally transmitted, and could be explained by parental imprinting or environmental factors influencing the expression of the gene.

摘要

对1975名各年龄段的乳腺癌患者的家族病史进行了研究。所有患者均来自斯德哥尔摩地区一项正在进行的乳腺癌患者护理项目。发现133个家族(6.7%)患有遗传性乳腺癌,87个家族(4.4%)患有遗传性乳腺癌及其他癌症,14个家族(0.7%)患有SBLA综合征。家族性与双侧疾病之间无关联,但家族性病例在诊断时往往更年轻。对索引病例中致病基因的亲本来源进行测定发现,母系遗传的病例数是父系遗传病例数的两倍。这可能是由于致病基因母系遗传时预后较好,并且可以用亲本印记或影响基因表达的环境因素来解释。

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