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卵巢小细胞癌的家族聚集性:一种新的孟德尔式疾病实体?

Familial cluster of ovarian small cell carcinoma: a new mendelian entity?

作者信息

Longy M, Toulouse C, Mage P, Chauvergne J, Trojani M

机构信息

Department of Oncogenetics, Institut Bergonié, Bordeaux, France.

出版信息

J Med Genet. 1996 Apr;33(4):333-5. doi: 10.1136/jmg.33.4.333.

DOI:10.1136/jmg.33.4.333
PMID:8730291
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC1050585/
Abstract

We report a pedigree in which three sisters had a particular type of ovarian cancer, small cell carcinoma of the hypercalcaemic type. This rare type of ovarian carcinoma is now well characterised by clinical and pathological findings and is well distinguished from other ovarian epithelial tumours and ovarian germ cell tumours. The occurrence of this rare type of cancer in several members of the same family and the existence of four other similar published observations raises the question of the genetic determination of this kind of tumour.

摘要

我们报告了一个家系,其中三姐妹患有一种特殊类型的卵巢癌,即高钙血症型小细胞癌。这种罕见类型的卵巢癌现在已通过临床和病理检查结果得到充分表征,并且与其他卵巢上皮性肿瘤和卵巢生殖细胞肿瘤有明显区别。这种罕见类型的癌症在同一家族的多名成员中发生,以及其他四项类似的已发表观察结果的存在,引发了这种肿瘤是否由基因决定的问题。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/79b5/1050585/2adcd47cc146/jmedgene00258-0070-b.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/79b5/1050585/623d415ac6c7/jmedgene00258-0070-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/79b5/1050585/2adcd47cc146/jmedgene00258-0070-b.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/79b5/1050585/623d415ac6c7/jmedgene00258-0070-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/79b5/1050585/2adcd47cc146/jmedgene00258-0070-b.jpg

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Genetic epidemiology of epithelial ovarian cancer.
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