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遗传性卵巢癌:异质性、分子遗传学、病理学及管理

Hereditary ovarian carcinoma: heterogeneity, molecular genetics, pathology, and management.

作者信息

Lynch Henry T, Casey Murray Joseph, Snyder Carrie L, Bewtra Chhanda, Lynch Jane F, Butts Matthew, Godwin Andrew K

机构信息

Department of Preventive Medicine and Public Health, Creighton University School of Medicine, 2500 California Plaza, Omaha, NE 68178, USA.

出版信息

Mol Oncol. 2009 Apr;3(2):97-137. doi: 10.1016/j.molonc.2009.02.004. Epub 2009 Feb 21.


DOI:10.1016/j.molonc.2009.02.004
PMID:19383374
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC2778287/
Abstract

Hereditary ovarian cancer accounts for at least 5% of the estimated 22,000 new cases of this disease during 2009. During this same time, over 15,000 will die from malignancy ascribed to ovarian origin. The bulk of these hereditary cases fits the hereditary breast-ovarian cancer syndrome, while virtually all of the remainder will be consonant with the Lynch syndrome, disorders which are autosomal dominantly inherited. Advances in molecular genetics have led to the identification of BRCA1 and BRCA2 gene mutations which predispose to the hereditary breast-ovarian cancer syndrome, and mutations in mismatch repair genes, the most common of which are MSH2 and MLH1, which predispose to Lynch syndrome. These discoveries enable relatively certain diagnosis, limited only by their variable penetrance, so that identification of mutation carriers through a comprehensive cancer family history might be possible. This paper reviews the subject of hereditary ovarian cancer, with particular attention to its molecular genetic basis, its pathology, and its phenotypic/genotypic heterogeneity.

摘要

2009年,估计有22000例卵巢癌新发病例,其中遗传性卵巢癌至少占5%。同年,超过15000人将死于卵巢原发性恶性肿瘤。这些遗传性病例大多符合遗传性乳腺癌-卵巢癌综合征,而几乎所有其余病例都与林奇综合征相符,这两种疾病都是常染色体显性遗传疾病。分子遗传学的进展已导致发现了易患遗传性乳腺癌-卵巢癌综合征的BRCA1和BRCA2基因突变,以及易患林奇综合征的错配修复基因突变,其中最常见的是MSH2和MLH1。这些发现使得相对确切的诊断成为可能,只是受其可变外显率的限制,因此通过全面的癌症家族史来识别突变携带者或许可行。本文综述了遗传性卵巢癌这一主题,尤其关注其分子遗传学基础、病理学以及表型/基因型异质性。

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[1]
Hereditary ovarian carcinoma: heterogeneity, molecular genetics, pathology, and management.

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[2]
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[3]
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[4]
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[5]
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[6]
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[7]
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引用本文的文献

[1]
The Charité protocol for surveillance, treatment and after-care management in women with Lynch syndrome.

Arch Gynecol Obstet. 2025-8-28

[2]
Multigene germline and somatic testing for epithelial ovarian cancer in China.

NPJ Precis Oncol. 2025-8-13

[3]
Spatial transcriptomic profiling of the human fallopian tube epithelium reveals region-specific gene expression patterns.

Commun Biol. 2025-3-29

[4]
P53 marker expression in epithelial ovarian tumours in a centre in Nigeria - a descriptive study.

BMC Womens Health. 2024-12-5

[5]
Prevalence of cardiometabolic outcomes in women who underwent salpingo-oophorectomy to prevent hereditary breast and ovarian cancer: a meta-analysis.

Fam Cancer. 2024-11-15

[6]
Case report: A germline leads to a splicing error in a family with multiple cancer patients.

Front Oncol. 2024-4-15

[7]
Prevalence of Variants of Uncertain Significance in Patients Undergoing Genetic Testing for Hereditary Breast and Ovarian Cancer and Lynch Syndrome.

Cancers (Basel). 2023-12-8

[8]
Prevalence and Landscape of Pathogenic or Likely Pathogenic Germline Variants and Their Association With Somatic Phenotype in Unselected Chinese Patients With Gynecologic Cancers.

JAMA Netw Open. 2023-7-3

[9]
Niclosamide (NA) overcomes cisplatin resistance in human ovarian cancer.

Genes Dis. 2023-1-2

[10]
Genetic analyses of DNA repair pathway associated genes implicate new candidate cancer predisposing genes in ancestrally defined ovarian cancer cases.

Front Oncol. 2023-3-8

本文引用的文献

[1]
High risk for ovarian cancer in a prospective series is restricted to BRCA1/2 mutation carriers.

Clin Cancer Res. 2008-11-15

[2]
Chromosome 8q23.3 and 11q23.1 variants modify colorectal cancer risk in Lynch syndrome.

Gastroenterology. 2009-1

[3]
Systematic review and meta-analysis of ovarian cancers: estimation of microsatellite-high frequency and characterization of mismatch repair deficient tumor histology.

Clin Cancer Res. 2008-11-1

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"BRCAness" syndrome in ovarian cancer: a case-control study describing the clinical features and outcome of patients with epithelial ovarian cancer associated with BRCA1 and BRCA2 mutations.

J Clin Oncol. 2008-12-1

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New insights into the pathogenesis of serous ovarian cancer and its clinical impact.

J Clin Oncol. 2008-11-10

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Loss of DNA mismatch repair protein hMSH6 in ovarian cancer is histotype-specific.

Int J Clin Exp Pathol. 2008-1-31

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Clin Cancer Res. 2008-6-15

[8]
Better life expectancy in women with BRCA2 compared with BRCA1 mutations is attributable to lower frequency and later onset of ovarian cancer.

Cancer Epidemiol Biomarkers Prev. 2008-6

[9]
A review of the clinical relevance of mismatch-repair deficiency in ovarian cancer.

Cancer. 2008-8-15

[10]
Cost-effectiveness analysis of prevention strategies for gynecologic cancers in Lynch syndrome.

Cancer. 2008-7-15

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