Title of article :
Molecular genetics and endometrial cancer
Author/Authors :
Fiona Lalloo، نويسنده , , D. Gareth Evans، نويسنده ,
Issue Information :
روزنامه با شماره پیاپی سال 2001
Pages :
9
From page :
355
To page :
363
Abstract :
Endometrial cancer is the ninth most common malignancy in females. Inherited forms of this malignancy exist. Mutations in mismatch repair genes result in hereditary non-polyposis colorectal cancer, which confers a lifetime risk of bowel cancer between 60–80% and an endometrial cancer risk of up to 60%. Current screening involves the use of transvaginal ultrasound and hysteroscopy. Genetic testing for mutations in the mismatch repair genes is available, and if a pathogenic change is found within a family, predictive testing becomes available for unaffected family members. If blood samples from family members are unavailable, tumour blocks may be studied to assess microsatellite instability, a feature of mismatch repair gene mutations. While mutations in the mismatch repair genes are found in inherited endometrial cancer they are rarely seen in sporadic cancers. However, there are a range of somatic gene mutations that are currently being studied in order to provide insight into the pathogenesis of endometrial cancer.
Keywords :
: endometrial cancer , hereditary non-polyposis colorectal cancer , mismatch repairgenes , microsatellite instability.
Journal title :
Best Paractice and Research Clinical Obstetrics and Gynaecology
Serial Year :
2001
Journal title :
Best Paractice and Research Clinical Obstetrics and Gynaecology
Record number :
465284
Link To Document :
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