Two unrelated cases with biallelic CHEK2 variants: a new condition with constitutional chromosomal instability?
Stolarova L, Kleiblova P, Janatova M, Soukupova J, Zemankova P, Macurek L, et al. CHEK2 germline variants in cancer predisposition: stalemate rather than checkmate. cells. 2020;9:2675.
Zhang J, Willers H, Feng Z, Ghosh JC, Kim S, Weaver DT, et al. Chk2 phosphorylation of BRCA1 regulates the repair of DNA double-strand breaks. Mol Cell Biol. 2004; 24:708–18.
Paperna T, Sharon-Shwartzman N, Kurolap A, Goldberg Y, Moustafa N, Carasso Y, et al. Homozygosity for CHEK2 p.Gly167Arg leads to a unique cancer syndrome with multiple complex chromosomal translocations in peripheral blood karyotype. J Med Genet. 2020;57:500–4.
Kukita Y, Okami J, Yoneda-Kato N, Nakamae I, Kawabata T, Higashiyama M, et al. Homozygous CHEK2 inactivation is associated with a familial case of multiple primary lung cancer with accompanying cancers in other organs. Box Stud Cold Spring Harb Mol. 2016;2:a001032.
Academic google
van Puijenbroek M, van Asperen CJ, van Mil A, Devilee P, van Wezel T, Morreau H. Homozygousness for a CHEK2*1100delC mutation identified in familial colorectal cancer does not lead to a severe clinical phenotype. J. Pathol. 2005;206:198–204.
Academic google
Janiszewska H, Bak A, Skonieczka K, Jaskowiec A, Kielbinski M, Jachalska A, et al. Constitutional mutations of the CHEK2 gene are a risk factor for MDS, but not for de novo AML. Leuc Res. 2018;70:74–8.
Kaczmarek-Rys M, Ziemnicka K, Hryhorowicz ST, Gorczak K, Hoppe-Golebiewska J, Skrzypczak-Zielinska M, et al. The missense c.470 T > C CHEK2 variant increases the risk of differentiated thyroid carcinoma in the Wielkopolska population. Hereditary Cancer Clin Pr. 2015;13:8.
Academic google
Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, et al. 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;17:405–24.
Academic google
Agiannitopoulos K, Papadopoulou E, Tsaousis GN, Pepe G, Kampouri S, Kocdor MA, et al. Characterization of the c.793-1G > A splicing variant in the CHEK2 gene as pathogenic: a case report. BMC Med Genet. 2019;20:131.
Academic google
Adank MA, Jonker MA, Kluijt I, van Mil SE, Oldenburg RA, Mooi WJ, et al. CHEK2*1100delC homozygosity is associated with a high risk of breast cancer in women. J Med Genet. 2011;48:860–3.
Stradella A, Del Valle J, Rofes P, Feliubadalo L, Grau Garces E, Velasco A, et al. Does multilocus inherited neoplasia alleles syndrome have severe clinical expression? J Med Genet. 2019;56:521–5.
Sutcliffe EG, Stettner AR, Miller SA, Solomon SR, Marshall ML, Roberts ME, et al. Differences in cancer prevalence among CHEK2 carriers identified through multi-gene panel testing. Cancer gene. 2020;246-7:12–7.
Academic google
Graffeo R, Rana HQ, Conforti F, Bonanni B, Cardoso MJ, Paluch-Shimon S, et al. Genes of moderate penetrance complicate genetic tests for the diagnosis of breast cancer: ATM, CHEK2, BARD1, and RAD51D. Mother. 2022;65:32–40.
Yang HW, Kim TM, Song SS, Shrinath N, Park R, Kalamarides M, et al. Alternative splicing of CHEK2 and codeletion with NF2 promote chromosome instability in the meningioma. Neoplasm. 2012;14:20–8.
Xie L, Zhao T, Cai J, Su Y, Wang Z, Dong W. Methotrexate induces DNA damage and inhibits homologous recombination repair in choriocarcinoma cells. Onco Ther objectives. 2016;9:7115–22.
Delimitsou A, Fostira F, Kalfakakou D, Apostolou P, Konstantopoulou I, Kroupis C, et al. Functional characterization of CHEK2 variants in a Saccharomyces cerevisiae system. Hum Mutat. 2019;40:631–48.
Oh JM, Myung K. Crosstalk between different DNA repair pathways for DNA double-strand break repairs. Mutat Res Genet Toxicol Environmental mutagen. 2022;873:503438.
Rodgers K, McVey M. Error-prone repair of DNA double-strand breaks. J Cell Physiol. 2016;231:15–24.
Scully R, Panday A, Elango R, Willis NA. Choice of DNA double-strand break repair pathway in mammalian somatic cells. Nat Rev Mol Cell Biol. 2019;20:698–714.
Taylor AMR, Rothblum-Oviatt C, Ellis NA, Hickson ID, Meyer S, Crawford TO, et al. Chromosomal instability syndromes. Nat Rev Dis Prim. 2019;5:64.
Academic google
Bahassi el M, Robbins SB, Yin M, Boivin GP, Kuiper R, van Steeg H, et al. Mice with the CHEK2*1100delC SNP are predisposed to cancer with a strong gender bias. Proc Natl Acad Sci USA. 2009;106:17111–6.
Academic google
Huijts PE, Hollestelle A, Balliu B, Houwing-Duistermaat JJ, Meijers CM, Blom JC, et al. CHEK2*1100delC homozygosity in the Netherlands: prevalence and risk of breast and lung cancer. Eur J Hum Genet. 2014; 22:46–51.
Rainville I, Hatcher S, Rosenthal E, Larson K, Bernhisel R, Meek S, et al. High risk of breast cancer in women with pathogenic biallelic variants in CHEK2. Treatment of breast cancer Res. 2020;180:503–9.