ArticleBritish journal of cancer2001
Mutation analysis of the CHK2 gene in families with hereditary breast cancer.
Article in British journal of cancer, 2001. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 31 papers.
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Who cites it
31 citing papers in PubMed, 85 citations in OpenAlex.
- Review
- Genetic and epigenetic alterations in pancreatic neuroendocrine tumors.Journal of gastrointestinal oncology · 2020Review
- Identification of therapeutic targets in chordoma through comprehensive genomic and transcriptomic analyses.Cold Spring Harbor molecular case studies · 2018Article
- Case report of a Li-Fraumeni syndrome-like phenotype with a de novo mutation in CHEK2.Medicine · 2016Article
- Germline mutations in BRCA1, BRCA2, CHEK2 and TP53 in patients at high-risk for HBOC: characterizing a Northeast Brazilian Population.Human genome variation · 2014Article
- Irrelevance of CHEK2 variants to diagnosis of breast/ovarian cancer predisposition in Polish cohort.Journal of applied genetics · 2011Article
- Pathology of hereditary breast cancer.Cellular oncology (Dordrecht, Netherlands) · 2011Review
- Hereditary breast cancer and the BRCA1-associated FANCJ/BACH1/BRIP1.Future oncology (London, England) · 2011Review
- Mutation analysis of the AATF gene in breast cancer families.BMC cancer · 2009Article
- Familial breast cancer screening reveals an alteration in the RAP80 UIM domain that impairs DNA damage response function.Oncogene · 2009Article
- The contribution of CHEK2 to the TP53-negative Li-Fraumeni phenotype.Hereditary cancer in clinical practice · 2009Article
- Haplotypes of the I157T CHEK2 germline mutation in ethnically diverse populations.Familial cancer · 2009Article
- In vitro phosphorylation of BRCA2 by the checkpoint kinase CHEK2.British journal of cancer · 2008Article
- Genetic counseling and testing for common hereditary breast cancer syndromes: a paper from the 2007 William Beaumont hospital symposium on molecular pathology.The Journal of molecular diagnostics : JMD · 2008Review
- Identification of a novel CHEK2 variant and assessment of its contribution to the risk of breast cancer in French Canadian women.BMC cancer · 2008Article
- Genetic and functional analysis of CHEK2 (CHK2) variants in multiethnic cohorts.International journal of cancer · 2007Article
- A large germline deletion in the Chek2 kinase gene is associated with an increased risk of prostate cancer.Journal of medical genetics · 2006Article
- The CHEK2 gene and inherited breast cancer susceptibility.Oncogene · 2006Review
- CHEK2 mutations in primary glioblastomas.Journal of neuro-oncology · 2005Article
- Mutation analysis of the ATR gene in breast and ovarian cancer families.Breast cancer research : BCR · 2005Article
Corrections and comments
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Authors and funding
5 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
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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