A novel CHEK2 variant identified by next generation sequencing in an Indian family with hereditary breast cancer syndrome.
Sign Up to like & getrecommendations! Published in 2019 at "Cancer genetics"
DOI: 10.1016/j.cancergen.2019.05.003
Abstract: Genetic variations in CHEK2 (checkpoint kinase 2) gene have been associated with hereditary predisposition to various cancers including breast and ovarian cancer. CHEK2 tumor suppressor gene encodes for a checkpoint kinase that responds to breaks… read more here.
Keywords: chek2; cancer; breast cancer; gene ... See more keywords
Spectrum and frequency of CHEK2 variants in breast cancer affected and general population in the Baltic states region, initial results and literature review.
Sign Up to like & getrecommendations! Published in 2022 at "European journal of medical genetics"
DOI: 10.1016/j.ejmg.2022.104477
Abstract: BACKGROUND While BRCA1/2 gene mutational spectrum and clinical features are widely studied, there is limited data on breast cancer-predisposing non-BRCA pathogenic/likely pathogenic variants (PV/LPVs) in the Baltic states region. According to previous studies, CHEK2 is… read more here.
Keywords: breast cancer; states region; chek2; baltic states ... See more keywords
Constitutional mutations of the CHEK2 gene are a risk factor for MDS, but not for de novo AML.
Sign Up to like & getrecommendations! Published in 2018 at "Leukemia research"
DOI: 10.1016/j.leukres.2018.05.013
Abstract: CHEK2 plays a key role in cellular response to DNA damage, and also in regulation of mitosis and maintenance of chromosomal stability. In patients newly diagnosed with myelodysplastic syndrome (MDS, n = 107) or acute myeloid leukemia… read more here.
Keywords: mutations chek2; risk; constitutional mutations; chek2 ... See more keywords
Abstract 1183: Mutation type and location in breast cancer susceptibility genes are associated with differential risk in the general population
Sign Up to like & getrecommendations! Published in 2023 at "Cancer Research"
DOI: 10.1158/1538-7445.am2023-1183
Abstract: Two recent studies have defined population-based risk of breast cancer (BC) due to pathogenic variants (PVs) in well-established BC susceptibility genes. Prior studies in high-risk BC cohorts identified variable BC risks based on the position… read more here.
Keywords: risk; chek2; type; mutation ... See more keywords
Incidence of the CHEK2 Germline Mutation and Its Impact on Clinicopathological Features, Treatment Responses, and Disease Course in Patients with Papillary Thyroid Carcinoma
Sign Up to like & getrecommendations! Published in 2021 at "Cancers"
DOI: 10.3390/cancers13030470
Abstract: Simple Summary The aim of our study was to evaluate whether the CHEK2 mutation was a predictor of poorer clinical course in patients with papillary thyroid cancer. The study included 1547 patients from a single… read more here.
Keywords: mutation; papillary thyroid; treatment; chek2 ... See more keywords
CHEK2 Mutation in Patient with Multiple Endocrine Glands Tumors. Case Report
Sign Up to like & getrecommendations! Published in 2020 at "International Journal of Environmental Research and Public Health"
DOI: 10.3390/ijerph17124397
Abstract: Background: Many studies show the occurrence of several multiple endocrine neoplasia syndromes caused by different mutations, for example, in MEN1 and RET genes. Nevertheless, there are less common mutations causing multiple endocrine glands tumors. Examples… read more here.
Keywords: multiple endocrine; patient multiple; endocrine glands; glands tumors ... See more keywords
Letter to the Editor: CHEK2 I157T - Pluto Among Numerous Low-Risk Genetic Factors Requiring Discharge From a Range of Pathogenic Variants?
Sign Up to like & getrecommendations! Published in 2022 at "Journal of the National Comprehensive Cancer Network : JNCCN"
DOI: 10.6004/jnccn.2021.7103
Abstract: The NCCN Clinical Practice Guidelines in Oncology (NCCN Guidelines) for Genetic/ Familial High-Risk Assessment: Breast, Ovarian, and Pancreatic provide substantial groundwork for specialist practice in diverse fields: medical oncology, genetic counseling, and even laboratory genetics.… read more here.
Keywords: brca2; nccn guidelines; variant; risk ... See more keywords