Locked Nucleic Acid-enhanced Detection of 1100delc*chek2 Germ-line Mutation in Spanish Pa- Tients with Hematologic Malignancies, María Collado
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منابع مشابه
CHEK2 1100DELC germline mutation: a frequency study in hereditary breast and colon cancer Brazilian families.
CONTEXT CHEK2 encodes a cell cycle checkpoint kinase that plays an important role in the DNA damage repair pathway, activated mainly by ATM (Ataxia Telangiectasia Mutated) in response to double-stranded DNA breaks. A germline mutation in CHEK2, 1100delC, has been described as a low penetrance allele in a significant number of families with breast and colorectal cancer in certain countries and i...
متن کاملA risk of breast cancer in women - carriers of constitutional CHEK2 gene mutations, originating from the North - Central Poland
BACKGROUND Germline mutations of the CHEK2 gene have been reported to be associated with breast cancer. In this study, we analyzed the association of CHEK2 mutations with the risk of development of breast cancer in women of North-Central Poland. METHODS 420 women with breast cancer and 435 controls were tested for three protein truncating (IVS2 + 1G > A, 1100delC, del5395) and one missense (I...
متن کاملThe CHEK2 1100delC allelic variant is not present in familial and sporadic breast cancer cases from Moroccan population
PURPOSE The cell-cycle checkpoint kinase 2 (CHEK2) is an important signal transducer of cellular responses to DNA damage, whose defects has been associated with increased risk for breast cancer. The CHEK2 1100delC mutation has been reported to confer a twofold increased risk of breast cancer among carriers. The frequency of the mutation varies among populations. The highest frequency has been d...
متن کاملRare germ line CHEK2 variants identified in breast cancer families encode proteins that show impaired activation.
Germ line mutations in CHEK2, the gene that encodes the Chk2 serine/threonine kinase activated in response to DNA damage, have been found to confer an increased risk of some cancers. We have previously reported the presence of the common deleterious 1100delC and four rare CHEK2 mutations in inherited breast cancer. Here, we report that predictions made by bioinformatic analysis on the rare muta...
متن کاملGermline CHEK2 mutations in Jewish Ashkenazi women at high risk for breast cancer.
BACKGROUND Germline mutations in BRCA1 and BRCA2 genes account for only 20-40% of familial breast cancer cases. The CHEK2 gene encodes a checkpoint kinase, involved in response to DNA damage, and hence is a candidate gene for breast cancer susceptibility. Indeed, the CHEK2*1100delC truncating mutation was reported in a subset of mostly North European breast cancer families. The rate of the CHEK...
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تاریخ انتشار 2004