A novel POLE mutation associated with cancers of colon, pancreas, ovaries and small intestine Ovarian Cancer and Us OVARIAN CANCER and US Ovarian Cancer and Us

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Tuesday, September 08, 2015

A novel POLE mutation associated with cancers of colon, pancreas, ovaries and small intestine



open access

..... The first predisposing mutation identified in POLE (c.1270C>G, p.Leu424Val) was associated with colorectal cancer only, but another mutation with a broader tumour spectrum (c.1089C>A, p.Asn363Lys) has recently been reported. In the family described in the present study, carriers generally have multiple colorectal adenomas and cancer of colon, pancreas, ovaries and small intestine which represents an important broadening of the tumour spectrum of POLE mutation carriers...

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