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PMID: 19725991 Published · epublish English

CHEK2 1100 delC mutation in Russian ovarian cancer patients.

Hereditary cancer in clinical practice ·Vol. 5 ·No. 3 ·2009-12-29

Krylova Nadezhda Yu, Ponomariova Daria N, Sherina Natalia Yu, Ogorodnikova Natalia Yu, Logvinov Denis A, Porhanova Natalia V, Lobeiko Oksana S, Urmancheyeva Adel F, Maximov Sergey Ya, Togo Alexandr V, Suspitsin Evgeny N, Imyanitov Evgeny N

Abstract

BRCA1 and BRCA2 germ-line mutations occur in a significant number of unselected ovarian cancer (OC) patients, thus making a noticeable contribution to OC morbidity. It is of interest whether CHEK2, which is frequently regarded as a third breast cancer specific gene, is also relevant to ovarian cancer pathogenesis. In this report we analyzed the presence of CHEK2 1100 delC founder mutation in 268 randomly recruited OC patients. The mutation was identified in 2 women with OC (0.8%) as compared to 1/448 (0.2%) healthy middle-aged and 0/373 elderly tumour-free women. Taken together this result and the negative findings of two other published reports on an association of CHEK2 with ovarian cancer indicate that there is no justification for intensive ovarian cancer screening in CHEK2 1100 delC carriers.

Article Info
Journal
Hereditary cancer in clinical practice
Abbr.
Hered Cancer Clin Pract
Published
2009-12-29
Indexed
2009-09-03
Updated
2009-09-03
Language
English
Country/Region
Poland
NLM ID
101231179
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