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Minerva Ginecologica 2016 October;68(5):579-86

Copyright © 2016 EDIZIONI MINERVA MEDICA

language: English

Hereditary non-BRCA gynecological tumors

Valerio G. VELLONE 1, Michele PAUDICE 1, Liliana VARESCO 2

1 Department of Surgical and Diagnostic Sciences, Anatomic Pathology, Genoa University, Genoa, Italy; 2 Unit of Hereditary Cancer, IRCCS AOU San Martino IST, Genoa, Italy


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Early diagnosis and proper management of gynecologic malignancies represent a challenge in modern oncology. A growing interest has arisen around the gynecological manifestations of hereditary cancer syndromes. In particular, the discovery of the BRCA1 and BRCA2 genes in ovarian cancer and the mismatch repair genes (MMR) in endometrial carcinoma has revolutionized our approach to the diagnosis and screening of women for ovarian and uterine cancers. The clinical, genetic and pathological features of hereditary cancer syndromes with gynecological manifestations are reviewed focusing on Lynch Syndrome, also known as hereditary nonpolyposis colorectal carcinoma (HNPCC), Peutz-Jeghers Syndrome (PJS), Cowden Syndrome or multiple hamartoma syndrome, Gorlin Syndrome or nevoid basal-cell carcinoma syndrome (NBCCS) and Reed’s Syndrome or hereditary leiomyomatosis and renal cell cancer (HLRCC).

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liliana.varesco@hsanmartino.it