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Hereditary gynaecological malignancies: advances in screening and treatment
Author(s) -
Folkins Ann K,
Longacre Teri A
Publication year - 2013
Publication title -
histopathology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.626
H-Index - 124
eISSN - 1365-2559
pISSN - 0309-0167
DOI - 10.1111/his.12028
Subject(s) - medicine , ovarian cancer , cancer syndrome , lynch syndrome , renal cell carcinoma , cowden syndrome , cancer , endometrial cancer , peutz–jeghers syndrome , gynecology , germline mutation , pathology , dermatology , gene , dna mismatch repair , biology , colorectal cancer , mutation , genetics
In the last two decades there have been significant advances in our understanding of female genital tract tumours. The discovery of BRCA1 and BRCA2 genes in ovarian cancer and the mismatch repair genes in endometrial carcinoma has revolutionized our approach to the diagnosis and screening of women for ovarian and uterine cancers. This review discusses the pathogenesis of these two hereditary syndromes in depth and explains how the molecular genetics is tailoring the manner in which these diseases are diagnosed and potentially treated. Other, less common hereditary conditions associated with gynaecological tract manifestations, such as Cowden syndrome, P eutz– J eghers syndrome, G orlin syndrome and hereditary leiomyomatosis and renal cell carcinoma, are also summarized briefly.