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卵巢癌中5号染色体长臂杂合性缺失常伴有TP53突变，并确定了5q13.1-21处的一个肿瘤抑制基因位点。

Loss of heterozygosity on chromosome 5q in ovarian cancer is frequently accompanied by TP53 mutation and identifies a tumour suppressor gene locus at 5q13.1-21.

作者信息

Tavassoli M, Steingrimsdottir H, Pierce E, Jiang X, Alagoz M, Farzaneh F, Campbell I G

机构信息

Rayne Institute, King's College School of Medicine and Dentistry, London, UK.

出版信息

Br J Cancer. 1996 Jul;74(1):115-9. doi: 10.1038/bjc.1996.324.

DOI:10.1038/bjc.1996.324
PMID:8679443
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC2074604/
Abstract

Forty-nine ovarian tumours were examined for loss of heterozygosity (LOH) on chromosome 5 using eight microsatellite markers spanning both arms, including one at the APC locus. LOH on 5q was a frequent event, detectable in 23 of 49 (47%) tumours, whereas 5p LOH was detected in only 1 of 22 tumours (5%). Six tumours showed partial LOH on 5q, enabling the candidate region to be localised to a 22 cM region proximal to APC, flanked by D5S424 and D5S644. An association was found between 5q LOH and TP53 mutation, with 18 of 23 (78%) tumours with LOH on 5q also harbouring a TP53 mutation. LOH on 5q was observed in 6 of 18 (33%) stage I tumours, suggesting that it may be an early event in the molecular pathogenesis of certain ovarian carcinomas.

摘要

使用跨越染色体5号双臂的8个微卫星标记，包括位于腺瘤性息肉病（APC）基因座的一个标记，对49个卵巢肿瘤进行杂合性缺失（LOH）检测。5号染色体长臂（5q）上的LOH是常见事件，在49个肿瘤中的23个（47%）中可检测到，而5号染色体短臂（5p）上的LOH仅在22个肿瘤中的1个（5%）中检测到。6个肿瘤在5q上显示部分LOH，使得候选区域定位于APC近端的一个22厘摩区域，两侧分别为D5S424和D5S644。发现5q LOH与TP53突变之间存在关联，5q上有LOH的23个肿瘤中的18个（78%）也存在TP53突变。在18个I期肿瘤中的6个（33%）中观察到5q LOH，提示其可能是某些卵巢癌分子发病机制中的早期事件。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/bcb0/2074604/ac3985030e25/brjcancer00017-0120-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/bcb0/2074604/ac3985030e25/brjcancer00017-0120-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/bcb0/2074604/ac3985030e25/brjcancer00017-0120-a.jpg

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