Mutation analysis of the CHK2gene in families with hereditary breast cancer
Open accessAbstract
Recently CHK2 was functionally linked to the p53 pathway, and mutations in these two genes seem to result in a similar Li-Fraumeni syndrome (LFS) or Li-Fraumeni-like syndrome (LFL) multi-cancer phenotype frequently including breast cancer. As CHK2 has been found to bind and regulate BRCA1, the product of one of the 2 known major susceptibility genes to hereditary breast cancer, it also more directly makes CHK2 a suitable candidate gene for hereditary predisposition to breast cancer. Here we have screened 79 Finnish hereditary breast cancer families for germline CHK2 alterations. Twenty-one of these families also fulfilled the criteria for LFL or LFS. All families had previously been found negative for germline BRCA1, BRCA2 and TP53 mutations, together explaining about 23% of hereditary predisposition to breast cancer in our country. Only one missense-type mutation, Ile(157)-->Thr(157), was detected. The high Ile(157)--> Thr(157)mutation frequency (6.5%) observed in healthy controls and the lack of other mutations suggest that CHK2 does not contribute significantly to the hereditary breast cancer or LFL-associated breast cancer risk, at least not in the Finnish population. For Ile(157)--> Thr(157)our result deviates from what has been reported previously.
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CHEK2, ATM, NBS1, RAD50, TOPBP1, and RAD51C are mutated in breast cancer patients.
“Correspondingly, these and other genes functioning in the DNA damage response, such as CHEK2, ATM, NBS1, RAD50, TOPBP1 and RAD51C, are mutated in breast cancer patients [12–21].”
From Hereditary Breast Cancer and the BRCA1-Associated FANCJ/BACH1/BRIP1 (2011) · cites this paper as [15]
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- Authors
- Allinen, M., Huusko, P., Mäntyniemi, S., Launonen, V, & Winqvist, R.
- Affiliations
- Oulu University Hospital (FI)
- University of Oulu (FI)
- University of Helsinki (FI)
- Venue
- British Journal of Cancer
- Published
- 2001-07
- Volume
- 85
- Issue
- 2
- Pages
- 209-212
- ISSN
- 0007-0920 (ISSN-L)
- 1532-1827
- PMC
- PMC2364033
- OpenAlex
- W170437174
- Cited by
- 85
- References
- 24
- Citations by year
- 2020: 2 · 2018: 1 · 2017: 1 · 2016: 3 · 2014: 4 · 2012: 2
- FWCI
- 5.66
- Type
- journal article
- Language
- en
- Open access
- hybrid
- doi.org
- Licence
- Locations
- British Journal of Cancer (publishedVersion, cc-by-nc-sa)
- Europe PMC (PubMed Central) (publishedVersion, cc-by)
- PubMed Central (publishedVersion, cc-by)
- PubMed (publishedVersion)
- Funders
- Academy of Finland
- Oulun Yliopisto
- Oulun Yliopistollinen Sairaala
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › BRCA gene mutations in cancer
- Health Sciences › Medicine › Pathology and Forensic Medicine › Genetic factors in colorectal cancer
- Health Sciences › Medicine › Oncology › Cancer-related Molecular Pathways
- Keywords
- hereditary breast cancer, germline mutations, Li-Fraumeni syndrome, Li-Fraumeni-like syndrome, p53 pathway, BRCA1, BRCA2, TP53, Finnish population, cancer susceptibility, mutation detection
- MeSH terms
- Breast Neoplasms, Female, Humans, Male, Pedigree, Protein Kinases, Cohort Studies, Protein Serine-Threonine Kinases, Germ-Line Mutation, Checkpoint Kinase 2
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