妇科癌症的遗传学

Genetics of gynaecological cancers.

作者信息

Constantinou Panayiotis, Tischkowitz Marc

机构信息

Department of Clinical Genetics, East Anglian Medical Genetics Service, Cambridge University Hospitals NHS Foundation Trust, Cambridge, UK.

Department of Clinical Genetics, East Anglian Medical Genetics Service, Cambridge University Hospitals NHS Foundation Trust, Cambridge, UK; Department of Medical Genetics, University of Cambridge, Addenbrooke's Hospital, Cambridge, UK.

出版信息

Best Pract Res Clin Obstet Gynaecol. 2017 Jul;42:114-124. doi: 10.1016/j.bpobgyn.2017.01.004. Epub 2017 Jan 24.

DOI:10.1016/j.bpobgyn.2017.01.004

PMID:28202331

Abstract

Gynaecological cancers accounted for 16.3% of all cancers and 13.9% of all cancer deaths in women globally in 2012. Cancer of the cervix is the most common gynaecological cancer, followed by cancers of the uterus and the ovary. Although cervical cancer is almost exclusively triggered by human papilloma virus infection, approximately 5% of all uterine cancers and 20% of all ovarian cancers are caused by germline mutations in cancer predisposition genes. A number of genetic syndromes are associated with rarer gynaecological tumours. This review focuses on the epidemiology and pathology of inherited gynaecological cancer predisposition syndromes arising because of germline mutations.

摘要

2012年，妇科癌症占全球所有癌症的16.3%，占全球女性所有癌症死亡人数的13.9%。宫颈癌是最常见的妇科癌症，其次是子宫癌和卵巢癌。虽然宫颈癌几乎完全由人乳头瘤病毒感染引发，但所有子宫癌的约5%和所有卵巢癌的20%是由癌症易感基因的种系突变引起的。一些遗传综合征与较罕见的妇科肿瘤有关。本综述重点关注由种系突变引起的遗传性妇科癌症易感综合征的流行病学和病理学。