Journal: Familial cancer
This study characterizes the cancer spectrum linked to the CHEK2 p.(Leu236Pro) variant in Mexican patients.
Analyzing 5,759 individuals tested for hereditary cancer syndromes, 58 carriers with confirmed cancers were identified, predominantly from central Mexico, suggesting a founder effect.
Hereditary breast and ovarian cancer syndrome was the main indication for testing (74.1%). Breast cancer was the most frequent diagnosis (67.6%), followed by ovarian, prostate, and gastric cancers.
The average age at diagnosis was 43.8 years. A notable proportion of patients had multiple primary cancers and a family history of cancer.
Significant risk increases were confirmed for breast, ovarian, and gastric cancers. These findings emphasize the need for tailored surveillance and integrating this variant into clinical risk assessments in the Mexican population.
Further studies are needed to validate these results and clarify the potential founder effect.