Frequency of CHEK2 gene mutations in breast cancer patients from Republic of Bashkortostan

Bermisheva, Marina; Takhirova, Zalina; Bogdanova, Natalia; Хуснутдинова, Э. К.

doi:10.1134/s0026893314010026

Cited by 8 publications

(3 citation statements)

References 29 publications

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“…The frequency of the European founder mutation c.1100delC declines from the north to the south [ 129 ], with carrier frequency in the general population close to 1% in the UK and the Netherlands but very rare in the Mediterranean region [ 130 , 131 , 132 ]. The most frequent European CHEK2 variant, p.I157T, has a population frequency of heterozygous carriers of around 5% in Poles [ 20 ], Latvians [ 133 ], Hungarians [ 134 ], and Russians [ 135 ] and around 2–3% in Czechs [ 136 ], Slovaks [ 134 ], and Germans [ 126 ]. Interestingly, the p.I157T allele has developed in some populations independently [ 137 ].…”

Section: Germline Chek2 Variantsmentioning

confidence: 99%

CHEK2 Germline Variants in Cancer Predisposition: Stalemate Rather than Checkmate

Stolařová

Kleiblová

Janatová

et al. 2020

Cells

141

101

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Germline alterations in many genes coding for proteins regulating DNA repair and DNA damage response (DDR) to DNA double-strand breaks (DDSB) have been recognized as pathogenic factors in hereditary cancer predisposition. The ATM-CHEK2-p53 axis has been documented as a backbone for DDR and hypothesized as a barrier against cancer initiation. However, although CHK2 kinase coded by the CHEK2 gene expedites the DDR signal, its function in activation of p53-dependent cell cycle arrest is dispensable. CHEK2 mutations rank among the most frequent germline alterations revealed by germline genetic testing for various hereditary cancer predispositions, but their interpretation is not trivial. From the perspective of interpretation of germline CHEK2 variants, we review the current knowledge related to the structure of the CHEK2 gene, the function of CHK2 kinase, and the clinical significance of CHEK2 germline mutations in patients with hereditary breast, prostate, kidney, thyroid, and colon cancers.

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Section: Germline Chek2 Variantsmentioning

confidence: 99%

CHEK2 Germline Variants in Cancer Predisposition: Stalemate Rather than Checkmate

Stolařová

Kleiblová

Janatová

et al. 2020

Cells

141

101

View full text Add to dashboard Cite

show abstract

“…NGS testing of 3 of these genes ( POLE , POLD1 and MSH3 ) revealed only one presumably pathogenic variant located in the exonuclease domain of POLD1 gene (p.L460R) (Table S3). High occurrence of CHEK2 p.I157T substitution in genetically unexplained colon polyposis patients (Table S3) is of potential interest, given that the frequency of this variant in Slavic populations does not exceed 5% . CHEK2 p.I157T allele was repeatedly shown to be moderately overrepresented in various categories of oncological patients, including subjects with breast, prostate, colorectal and pancreatic carcinomas.…”

Section: Discussionmentioning

confidence: 99%

“…High occurrence of CHEK2 p.I157T substitution in genetically unexplained colon polyposis patients (Table S3) is of potential interest, given that the frequency of this variant in Slavic populations does not exceed 5%. 41,42 CHEK2 p.I157T allele was repeatedly shown to be moderately overrepresented in various categories of oncological patients, including subjects with breast, 43 I157T allele, while common truncating mutations in CHEK2 gene did not increase the CRC risk. 46,47 Our results suggest that CHEK2 p.I157T allele may be responsible for a fraction of colon polyposis cases.…”

Section: Ngs Analysis Of Polyposis Cases Negative For Apc and Mutyhmentioning

confidence: 97%

Spectrum of APC and MUTYH germ‐line mutations in Russian patients with colorectal malignancies

et al. 2018

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Distribution of cancer-predisposing mutations demonstrates significant interethnic variations. This study aimed to evaluate patterns of APC and MUTYH germ-line mutations in Russian patients with colorectal malignancies. APC gene defects were identified in 26/38 (68%) subjects with colon polyposis; 8/26 (31%) APC mutations were associated with 2 known mutational hotspots (p.E1309Dfs*4 [n = 5] and p.Q1062fs* [n = 3]), while 6/26 (23%) mutations were novel (p.K73Nfs*6, p.S254Hfs*12, p.S1072Kfs*9, p.E1547Kfs*11, p.L1564X and p.C1263Wfs*22). Biallelic mutations in MUTYH gene were detected in 3/12 (25%) remaining subjects with polyposis and in 6/90 (6.7%) patients with colorectal cancer (CRC) carrying KRAS p.G12C substitution, but not in 231 early-onset CRC cases negative for KRAS p.G12C allele. In addition to known European founder alleles p.Y179C and p.G396D, this study revealed a recurrent character of MUTYH p.R245H germ-line mutation. Besides that, 3 novel pathogenic MUTYH alleles (p.L111P, p.R245S and p.Q293X) were found. Targeted next-generation sequencing of 7 APC/MUTYH mutation-negative DNA samples identified novel potentially pathogenic POLD1 variant (p.L460R) in 1 patient and known low-penetrant cancer-associated allele CHEK2 p.I157T in 3 patients. The analysis of 1120 healthy subjects revealed 15 heterozygous carriers of recurrent MUTYH mutations, thus the expected incidence of MUTYH-associated polyposis in Russia is likely to be 1:23 000.

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Strong association of single nucleotide polymorphisms in BRCA1, ATM, and CHEK2 with breast cancer susceptibility in a sub-population of Iranian women

Jahangiri,

Abdan,

Soroush

et al. 2024

Breast Cancer Res Treat

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Frequency of CHEK2 gene mutations in breast cancer patients from Republic of Bashkortostan

Cited by 8 publications

References 29 publications

CHEK2 Germline Variants in Cancer Predisposition: Stalemate Rather than Checkmate

CHEK2 Germline Variants in Cancer Predisposition: Stalemate Rather than Checkmate

Spectrum of APC and MUTYH germ‐line mutations in Russian patients with colorectal malignancies

Strong association of single nucleotide polymorphisms in BRCA1, ATM, and CHEK2 with breast cancer susceptibility in a sub-population of Iranian women

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