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abstract
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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