- •Some, but not all, CHEK2 missense PVs demonstrate lower cancer prevalence.
- •Biallelic CHEK2 PVs may not be associated with a more severe phenotype.
- •CHEK2 heterozygotes often also carry PVs in other cancer risk genes.
Purchase one-time access:Academic & Personal: 24 hour online accessCorporate R&D Professionals: 24 hour online access
One-time access price info
- For academic or personal research use, select 'Academic and Personal'
- For corporate R&D use, select 'Corporate R&D Professionals'
- Heterozygous germ line hCHK2 mutations in Li-Fraumeni syndrome.Science. 1999; 286: 2528-2531https://doi.org/10.1126/science.286.5449.2528
- The contribution of CHEK2 to the TP53-negative Li-Fraumeni phenotype.Hered Cancer Clin Pract. 2009; 7: 4https://doi.org/10.1186/1897-4287-7-4
- Is CHEK2 a cause of the Li-Fraumeni syndrome.J Med Genet. 2008; 45: 63-64https://doi.org/10.1136/jmg.2007.054700
- CHEK2 contribution to hereditary breast cancer in non-BRCA families.Breast Cancer Res. 2011; 13: R119https://doi.org/10.1186/bcr3062
- Associations between cancer predisposition testing panel genes and breast cancer.JAMA Oncol. 2017; 3: 1190-1196https://doi.org/10.1001/jamaoncol.2017.0424
- Familial breast cancer and DNA repair genes: insights into known and novel susceptibility genes from the GENESIS study, and implications for multigene panel testing.Int J Cancer. 2019; 144: 1962-1974https://doi.org/10.1002/ijc.31921
- CHEK2 c.1100delC mutation is associated with an increased risk for male breast cancer in Finnish patient population.BMC Cancer. 2017; 17: 620https://doi.org/10.1186/s12885-017-3631-8
- Male breast cancer in a multi-gene panel testing cohort: insights and unexpected results.Breast Cancer Res Treat. 2017; 161: 575-586https://doi.org/10.1007/s10549-016-4085-4
- Identification of deleterious germline CHEK2 mutations and their association with breast and ovarian cancer.Int J Cancer. 2019; 145: 1782-1797https://doi.org/10.1002/ijc.32385
- Breast cancer risk is similar for CHEK2 founder and non-founder mutation carriers.Cancer Genet. 2016; 209: 403-407https://doi.org/10.1016/j.cancergen.2016.08.005
- CHEK2×1100delC and male breast cancer risk in Israel.Int J Cancer. 2004; 108: 479-480https://doi.org/10.1002/ijc.11603
- Insight into genetic susceptibility to male breast cancer by multigene panel testing: results from a multicenter study in Italy.Int J Cancer. 2019; 145: 390-400https://doi.org/10.1002/ijc.32106
- CHEK2 is a multiorgan cancer susceptibility gene.Am J Hum Genet. 2004; 75: 1131-1135https://doi.org/10.1086/426403
- An inherited NBN mutation is associated with poor prognosis prostate cancer.Br J Cancer. 2013; 108: 461-468https://doi.org/10.1038/bjc.2012.486
- CHEK2 (∗) 1100delC Mutation and Risk of Prostate Cancer.Prostate Cancer. 2014; 2014294575https://doi.org/10.1155/2014/294575
- CHEK2 I157T associates with familial and sporadic colorectal cancer.J Med Genet. 2006; 43: e34https://doi.org/10.1136/jmg.2005.038331
- CHEK2 mutations and HNPCC-related colorectal cancer.Int J Cancer. 2010; 126: 3005-3009https://doi.org/10.1002/ijc.25003
- CHEK2 variants associate with hereditary prostate cancer.Br J Cancer. 2003; 89: 1966-1970https://doi.org/10.1038/sj.bjc.6601425
- Genetic variants associated with colorectal cancer risk: comprehensive research synopsis, meta-analysis, and epidemiological evidence.Gut. 2014; 63: 326-336https://doi.org/10.1136/gutjnl-2012-304121
- The risk of gastric cancer in carriers of CHEK2 mutations.Fam Cancer. 2013; 12: 473-478https://doi.org/10.1007/s10689-012-9599-2
- Prevalence of Germline Mutations in Cancer Susceptibility Genes in Patients With Advanced Renal Cell Carcinoma.JAMA Oncol. 2018; 4: 1228-1235https://doi.org/10.1001/jamaoncol.2018.1986
- CHEK2 mutations and the risk of papillary thyroid cancer.Int J Cancer. 2015; 137: 548-552https://doi.org/10.1002/ijc.29426
- Increased Risk for Other Cancers in Addition to Breast Cancer for CHEK2×1100delC Heterozygotes Estimated From the Copenhagen General Population Study.J Clin Oncol. 2016; 34: 1208-1216https://doi.org/10.1200/JCO.2015.63.3594
- CHEK2×1100delC homozygosity is associated with a high breast cancer risk in women.J Med Genet. 2011; 48: 860-863https://doi.org/10.1136/jmedgenet-2011-100380
- CHEK2×1100delC homozygosity in the Netherlands–prevalence and risk of breast and lung cancer.Eur J Hum Genet. 2014; 22: 46-51https://doi.org/10.1038/ejhg.2013.85
- Effect of CHEK2 missense variant I157T on the risk of breast cancer in carriers of other CHEK2 or BRCA1 mutations.J Med Genet. 2009; 46: 132-135https://doi.org/10.1136/jmg.2008.061697
- High risk of breast cancer in women with biallelic pathogenic variants in CHEK2.Breast Cancer Res Treat. January 2020; https://doi.org/10.1007/s10549-020-05543-3
- The c.470 T > C CHEK2 missense variant increases the risk of differentiated thyroid carcinoma in the Great Poland population.Hered Cancer Clin Pract. 2015; 13: 8https://doi.org/10.1186/s13053-015-0030-5
- Time to check CHEK2 in families with breast cancer.J Clin Oncol. 2008; 26: 519-520https://doi.org/10.1200/JCO.2007.13.8503
NCCN Guidelines. Genetic/Familial High-Risk Assessment: breast and Ovarian (Version 3.2019). http://www.nccn.org/clinical.asp. Accessed2019.
NCCN Guidelines. Genetic/Familial High-Risk Assessment: breast and Ovarian (Version 1.2020). http://www.nccn.org/clinical.asp. Accessed2019.
- MSH6 and PMS2 germ-line pathogenic variants implicated in Lynch syndrome are associated with breast cancer.Genet Med. 2018; https://doi.org/10.1038/gim.2017.254
- Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.Genet Med. 2015; 17: 405-424https://doi.org/10.1038/gim.2015.30
- Inherited Mutations in Women With Ovarian Carcinoma.JAMA Oncol. 2016; 2: 482-490https://doi.org/10.1001/jamaoncol.2015.5495
- PALB2, CHEK2 and ATM rare variants and cancer risk: data from COGS.J Med Genet. 2016; 53: 800-811https://doi.org/10.1136/jmedgenet-2016-103839
- Rare, protein-truncating variants in ATM, CHEK2 and PALB2, but not XRCC2, are associated with increased breast cancer risks.J Med Genet. 2017; 54: 732-741https://doi.org/10.1136/jmedgenet-2017-104588
- Functional and genomic approaches reveal an ancient CHEK2 allele associated with breast cancer in the Ashkenazi Jewish population.Hum Mol Genet. 2005; 14: 555-563https://doi.org/10.1093/hmg/ddi052
- Conflicting interpretation of genetic variants and cancer risk by commercial laboratories as assessed by the prospective registry of multiplex testing.J Clin Oncol. 2016; 34: 4071-4078https://doi.org/10.1200/JCO.2016.68.4316
- Counselling framework for moderate-penetrance cancer-susceptibility mutations.Nat Rev Clin Oncol. 2016; 13: 581-588https://doi.org/10.1038/nrclinonc.2016.90
- Structure and activation mechanism of the CHK2 DNA damage checkpoint kinase.Mol Cell. 2009; 35: 818-829https://doi.org/10.1016/j.molcel.2009.09.007
- Response to DNA damage of CHEK2 missense mutations in familial breast cancer.Hum Mol Genet. 2012; 21: 2738-2744https://doi.org/10.1093/hmg/dds101