A WRN Nonsense Mutation, p.R1406X, is Not a Risk Factor of Breast Cancer


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Аннотация

WRN/RECQL2 plays a crucial role in DNA replication and the maintenance of genome stability. Inactivating mutations in RECQL2 lead to Werner syndrome, a rare autosomal recessive chromosomal disorder characterized by premature aging and associated with genetic instability and increased cancer risk. Whether heterozygous WRN mutations are associated with breast cancer risk has been a matter for debate. In the present study, we identified p.R1406X in the WRN gene in one family case with breast/ovarian cancer using whole exome sequencing. We have investigated the prevalence of this WRN mutation in a total of 828 breast cancer cases, 273 ovarian cancer cases and 445 controls from Bashkortostan Republic (Russia). Our results suggest that the p.R1406X mutation in the WRN gene is not associated with high breast cancer risk.

Авторлар туралы

M. Bermisheva

Institute of Biochemistry and Genetics, Ufa Federal Research Centre of the Russian Academy of Sciences

Хат алмасуға жауапты Автор.
Email: marina_berm@mail.ru
Ресей, Ufa, 450054

I. Gilyazova

Institute of Biochemistry and Genetics, Ufa Federal Research Centre of the Russian Academy of Sciences

Email: marina_berm@mail.ru
Ресей, Ufa, 450054

L. Akhmadishina

Institute of Biochemistry and Genetics, Ufa Federal Research Centre of the Russian Academy of Sciences

Email: marina_berm@mail.ru
Ресей, Ufa, 450054

G. Gimalova

Institute of Biochemistry and Genetics, Ufa Federal Research Centre of the Russian Academy of Sciences

Email: marina_berm@mail.ru
Ресей, Ufa, 450054

G. Zinnatullina

Republic Clinical Oncological Center of Bashkortostan Republic

Email: marina_berm@mail.ru
Ресей, Ufa, 450054

E. Khusnutdinova

Institute of Biochemistry and Genetics, Ufa Federal Research Centre of the Russian Academy of Sciences

Email: marina_berm@mail.ru
Ресей, Ufa, 450054

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