Breast cancer risk is similar for CHEK2 founder and non-founder mutation carriers
نویسندگان
چکیده
منابع مشابه
A novel founder CHEK2 mutation is associated with increased prostate cancer risk.
Variants in the CHEK2 have been found to be associated with prostate cancer risk in the United States and Finland. We sequenced CHEK2 gene in 140 Polish patients with prostate cancer and then genotyped the three detected variants in a larger series of prostate cancer cases and controls. CHEK2 truncating mutations (IVS2 + 1G>A or 1100delC) were identified in 9 of 1921 controls (0.5%) and in 11 o...
متن کاملThe CHEK2 del5395 is a founder mutation without direct effects for cancer risk in the latvian population
Our objective was to determine: 1) whether the checkpoint kinase 2 (CHEK2) del5395 (g.27417113-27422508 del, NC_000022.11) is a founder mutation in the Latvian population, 2) if there is an association between CHEK2 del5395 mutation and cancer risk, and 3) and whether the CHEK2 del5395 mutation impacts cancer predisposition in Chernobyl disaster liquidators (the civil and military personnel who...
متن کاملBreast cancer in high-risk Afrikaner families: Is BRCA founder mutation testing sufficient?
BACKGROUND Germline pathogenic mutations in cancer susceptibility genes result in inherited cancer syndromes. In the Afrikaner population of South Africa (SA), three founder mutations in the BRCA genes that lead to hereditary breast and ovarian cancer syndrome (HBOCS) have been identified. OBJECTIVES To investigate the uptake and type of molecular testing performed on patients for HBOCS, to d...
متن کاملSelenium and cancer risk in CHEK2 mutation carriers
Checkpoint kinase 2 (CHEK2) is as an important signal transducer of cellular responses to DNA damage and acts as a tumour suppressor gene. Mutations in the CHEK2 gene have been shown to be associated with increased risks to several cancers. In Poland four mutations in CHEK2 gene (1100delC, IVS2+1G>A, I157T, del5395) have been identified. Studies on our population provided evidence that CHEK2 tr...
متن کاملCancer risk of heterozygotes with the NBN founder mutation.
BACKGROUND The autosomal recessive chromosomal instability disorder Nijmegen breakage syndrome (NBS) is associated with increased risk of lymphoid malignancies and other cancers. Cells from NBS patients contain many double-stranded DNA breaks. More than 90% of NBS patients are homozygous for a founder mutation, 657del5, in the NBN gene. We investigated the 657del5 carrier status of cancer patie...
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ژورنال
عنوان ژورنال: Cancer Genetics
سال: 2016
ISSN: 2210-7762
DOI: 10.1016/j.cancergen.2016.08.005