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

Bermisheva M. A.; Gilyazova I. R.; Akhmadishina L. Z.; Gimalova G. F.; Zinnatullina G. F.; Khusnutdinova E. K.

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

机译：WRN无意义突变，p.R1406x不是乳腺癌的危险因素

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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.

机译：WRN / RECQL2在DNA复制和基因组稳定性的维持中起着至关重要的作用。 RECQL2中的灭活突变导致Werner综合征，一种稀有的常规性隐性染色体疾病，其特征在于过早老化，与遗传不稳定相关以及增加的癌症风险。杂合WRN突变是否与乳腺癌风险有关，这是一个辩论的问题。在本研究中，我们在一个家庭案例中鉴定了在一个家庭情况下用乳腺/卵巢癌的WRN基因鉴定了P.R1406x。我们研究了这一WRN突变的患病率，共有828例乳腺癌病例，273例卵巢癌病例和445个来自巴希尔多斯坦共和国（俄罗斯）的445个控件。我们的研究结果表明，WRN基因中的P.R1406X突变与高乳腺癌风险无关。

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来源
《Russian journal of genetics》 |2019年第7期|共5页
作者
Bermisheva M. A.; Gilyazova I. R.; Akhmadishina L. Z.; Gimalova G. F.; Zinnatullina G. F.; Khusnutdinova E. K.;
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作者单位

Russian Acad Sci Ufa Fed Res Ctr Inst Biochem &

Genet Ufa 450054 Russia;

Russian Acad Sci Ufa Fed Res Ctr Inst Biochem &

Genet Ufa 450054 Russia;

Russian Acad Sci Ufa Fed Res Ctr Inst Biochem &

Genet Ufa 450054 Russia;

Russian Acad Sci Ufa Fed Res Ctr Inst Biochem &

Genet Ufa 450054 Russia;

Republ Clin Oncol Ctr Bashkortostan Republ Ufa 450054 Russia;

Russian Acad Sci Ufa Fed Res Ctr Inst Biochem &

Genet Ufa 450054 Russia;

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正文语种 eng
中图分类遗传学;
关键词
Werner syndrome; hereditary breast cancer; genetic susceptibility; mutation;

机译：Werner综合征;遗传性乳腺癌;遗传易感性;突变;

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1. A WRN Nonsense Mutation, p.R1406X, is Not a Risk Factor of Breast Cancer [J] . Bermisheva M. A., Gilyazova I. R., Akhmadishina L. Z., Russian journal of genetics . 2019,第7期

机译：WRN无意义突变，p.R1406x不是乳腺癌的危险因素
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3. Variation in breast cancer risk associated with factors related to pregnancies according to truncating mutation location, in the French National BRCA1 and BRCA2 mutations carrier cohort (GENEPSO) [J] . Julie Lecarpentier, Catherine Noguas, Emmanuelle Mouret-Fourme, Breast Cancer Research . 2012,第4期

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4. BREAST CANCER - AN ENVIRONMENTAL DISEASE? THE INCREASED INCIDENCE OF BREAST CANCER WORLDWIDE: A SYSTEMS APPROACH IN INVESTIGATING BIOLOGICALLY PLAUSIBLE OESTROGENIC RISK FACTORS [C] . STANLEY E, PLANT J, VOULVOULIS N International Conference on Environmental Science and Technology . 2015

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5. The Role of Reproductive Risk Factors in Hereditary Breast Cancer Within BRCA Mutation Carriers: Systematic Review and Meta-Analysis [D] . Springer, Tamara. 2021

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6. FANCM c.5791CT nonsense mutation (rs144567652) induces exon skipping affects DNA repair activity and is a familial breast cancer risk factor [O] . Paolo Peterlongo, Irene Catucci, Mara Colombo, -1

机译：FANCM c.5791C T无意义突变（rs144567652）导致外显子跳跃影响DNA修复活性是家族性乳腺癌的危险因素
7. Variation in breast cancer risk associated with factors related to pregnancies according to truncating mutation location, in the French National BRCA1 and BRCA2 mutations carrier cohort (GENEPSO) [O] . Julie Lecarpentier, null null, Catherine Noguès, 2012

机译：在法国国家BRCA1和BRCA2突变携带者队列（GENEPSO）中，根据截短的突变位置，与怀孕相关因素相关的乳腺癌风险差异
8. Impact of Risk Factors and Genetic Polymorphism in Metabolic Enzymes on Breast Cancer Risk in BRCA1 and BRCA2 Mutation Carriers and Non-Mutation Carriers [R] . Eyfjord, J. E. 2000

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

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