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导管原位癌中TP53基因的突变及17号染色体p13区域的等位基因失衡

Mutation of the TP53 gene and allelic imbalance at chromosome 17p13 in ductal carcinoma in situ.

作者信息

Munn K E, Walker R A, Menasce L, Varley J M

机构信息

CRC Department of Cancer Genetics, Paterson Institute for Cancer Research, Christie Hospital, Manchester, UK.

出版信息

Br J Cancer. 1996 Nov;74(10):1578-85. doi: 10.1038/bjc.1996.592.

DOI:10.1038/bjc.1996.592
PMID:8932338
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC2074864/
Abstract

A panel of 36 cases of preinvasive breast lesions, including 35 cases of ductal carcinoma in situ (DCIS), has been examined for mutation of TP53, allelic imbalance (AI) on 17p13, and expression of TP53, in a number of cases, has been studied using immunohistochemistry. Areas of DCIS, with or without adjacent invasive or benign cells, have been separately microdissected from paraffin-embedded sections and analysed by PCR for genetic changes to chromosome 17p13. TP53 mutations and AI on 17p have been identified in cases of 'pure' DCIS as well as those with associated invasive carcinoma and, furthermore, have been identified in well-differentiated lesions as well as poorly differentiated ones.

摘要

一组36例乳腺原位癌前病变,包括35例导管原位癌(DCIS),已对其TP53突变、17p13的等位基因失衡(AI)进行检测,并且在一些病例中,已使用免疫组织化学研究了TP53的表达。DCIS区域,无论有无相邻浸润性或良性细胞,均已从石蜡包埋切片中单独显微切割出来,并通过PCR分析17号染色体p13区域的基因变化。在“纯”DCIS病例以及伴有浸润性癌的病例中均已鉴定出TP53突变和17p上的AI,此外,在高分化病变以及低分化病变中也已鉴定出这些情况。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/6b18/2074864/60041cebfabc/brjcancer00026-0076-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/6b18/2074864/b63ba39da291/brjcancer00026-0074-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/6b18/2074864/b20a2a19ed2a/brjcancer00026-0075-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/6b18/2074864/60041cebfabc/brjcancer00026-0076-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/6b18/2074864/b63ba39da291/brjcancer00026-0074-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/6b18/2074864/b20a2a19ed2a/brjcancer00026-0075-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/6b18/2074864/60041cebfabc/brjcancer00026-0076-a.jpg

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本文引用的文献

1
Continued local recurrence of carcinoma 15-25 years after a diagnosis of low grade ductal carcinoma in situ of the breast treated only by biopsy.仅通过活检治疗的乳腺低级别导管原位癌诊断后15至25年,癌灶持续局部复发。
Cancer. 1995 Oct 1;76(7):1197-200. doi: 10.1002/1097-0142(19951001)76:7<1197::aid-cncr2820760715>3.0.co;2-0.
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Allelic imbalance in the region of the BRCA1 gene in ductal carcinoma in situ of the breast.乳腺导管原位癌中BRCA1基因区域的等位基因失衡。
Br J Cancer. 1996 Mar;73(5):636-9. doi: 10.1038/bjc.1996.110.
3
Detailed mapping and loss of heterozygosity analysis suggests a suppressor locus involved in sporadic breast cancer within a distal region of chromosome band 17p13.3.
原发性子宫内膜鳞状细胞癌与人类乳头瘤病毒无关:一项分子研究。
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p53 mutations and expression in breast carcinoma in situ.原位乳腺癌中的p53突变与表达
Am J Pathol. 2000 Jan;156(1):183-91. doi: 10.1016/S0002-9440(10)64718-9.
5
Genetic alterations on chromosome 16 and 17 are important features of ductal carcinoma in situ of the breast and are associated with histologic type.16号和17号染色体上的基因改变是乳腺导管原位癌的重要特征,并与组织学类型相关。
Br J Cancer. 1999 Dec;81(8):1410-8. doi: 10.1038/sj.bjc.6693372.
6
Are there low-penetrance TP53 Alleles? evidence from childhood adrenocortical tumors.是否存在低 penetrance 的 TP53 等位基因?来自儿童肾上腺皮质肿瘤的证据。 注:“penetrance”一般译为“外显率” ,这里直接保留英文未翻译是因为不确定你原文中是否是特定术语表述,若有特定含义可根据实际情况替换准确翻译。
Am J Hum Genet. 1999 Oct;65(4):995-1006. doi: 10.1086/302575.
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Allelic imbalance at chromosome 17p13.3 (YNZ22) in breast cancer is independent of p53 mutation or p53 overexpression and is associated with poor prognosis at medium-term follow-up.乳腺癌中17号染色体p13.3区域(YNZ22)的等位基因失衡独立于p53突变或p53过表达,并且与中期随访时的不良预后相关。
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Loss of heterozygosity and microsatellite instability in breast hyperplasia. No obligate correlation of these genetic alterations with subsequent malignancy.乳腺增生中的杂合性缺失和微卫星不稳定性。这些基因改变与后续恶性肿瘤之间不存在必然关联。
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