ArticleHereditary cancer in clinical practice2022
CHEK2 mutations and papillary thyroid cancer: correlation or coincidence?
Article in Hereditary cancer in clinical practice, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 7 papers, 1 of them a synthesis that pooled it.
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Who cites it
7 citing papers in PubMed, 1 synthesis or guideline pooled it.
- Management of individuals with germline pathogenic/likely pathogenic variants in CHEK2: A clinical practice resource of the American College of Medical Genetics and Genomics (ACMG).Genetics in medicine : official journal of the American College of Medical Genetics · 2023Guideline
- Homologous Recombination in Thyroid Tumor Samples.International journal of molecular sciences · 2025Article
- Cancer spectrum in Mexican patients with the CHEK2 p.(Leu236Pro) variant: a retrospective study.Familial cancer · 2025Article
- Clonal Hematopoiesis Prevalence Years Before a Thyroid Cancer Diagnosis: A Case-Control Study.JCO precision oncology · 2025Article
- Possible link between familial susceptibility to cancer and the level of oxidative stress in thyroid cancer patients.Hereditary cancer in clinical practice · 2024Article
- Possible Markers for Distinguishing benign and Malignant Thyroid Tumors and Predicting Malignancy in Patients with Genetic Predisposition to Cancer.Asian Pacific journal of cancer prevention : APJCP · 2024Article
- Case report: Tisagenlecleucel for treatment of relapsed B- acute lymphoblastic leukemia in a patient withFrontiers in pediatrics · 2023Article
Corrections and comments
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Authors and funding
3 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
We report the case of a breast cancer survivor, diagnosed with an underlying CHEK2 c.1100delC heterozygosity, who developed a papillary thyroid cancer 5 years later. A CHEK2 c.1100delC (likely) pathogenic variant is associated with an increased risk of breast, prostate and colorectal cancer and therefore risk-specific screening will be offered. Current national and international screening guidelines do not recommend routine screening for thyroid cancer. Hence, we reviewed the literature to explore the possible association between a CHEK2 mutation and thyroid cancer. A weak association was found between the various CHEK2 mutations and papillary thyroid cancer. The evidence for an association with CHEK2 c.1100delC in particular is the least robust. In conclusion, there is insufficient evidence to warrant systematic thyroid screening in CHEK2 carriers.
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