Two unrelated cases with biallelic CHEK2 variants:a novel condition with constitutional chromosomal instability?-Reference-Cited by-同舟云学术

Two unrelated cases with biallelic CHEK2 variants:a novel condition with constitutional chromosomal instability?

Published:2022-12-19 Issue:4 Volume:31 Page:474-478
ISSN:1018-4813
Container-title:European Journal of Human Genetics
language:en
Short-container-title:Eur J Hum Genet

Author:

Bottillo Irene^ORCID,Savino Emanuele,Majore Silvia,Mulargia Claudia,Valiante Michele,Ferraris Alessandro,Rossi Valentina,Svegliati Francesca,Ciccone Maria Pia,Brusco Francesca,Grammatico Barbara,Di Giacomo Gianluca,Bargiacchi Simone,D’Angelantonio Daniela,Grammatico Paola

Publisher

Springer Science and Business Media LLC

Subject

Genetics (clinical),Genetics

Link

https://www.nature.com/articles/s41431-022-01270-z.pdf

Reference23 articles.

1. 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.

2. Zhang J, Willers H, Feng Z, Ghosh JC, Kim S, Weaver DT, et al. Chk2 phosphorylation of BRCA1 regulates DNA double-strand break repair. Mol Cell Biol. 2004;24:708–18.

3. 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.

4. Kukita Y, Okami J, Yoneda-Kato N, Nakamae I, Kawabata T, Higashiyama M, et al. Homozygous inactivation of CHEK2 is linked to a familial case of multiple primary lung cancer with accompanying cancers in other organs. Cold Spring Harb Mol Case Stud. 2016;2:a001032.

5. van Puijenbroek M, van Asperen CJ, van Mil A, Devilee P, van Wezel T, Morreau H. Homozygosity for a CHEK2*1100delC mutation identified in familial colorectal cancer does not lead to a severe clinical phenotype. J Pathol. 2005;206:198–204.

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