Authors: Neida Ramos , Belmiro Correia , Beatriz Ribeiro , Ricardo Filipe Oliveira

Abstract

Background: Germline CHEK2 mutations confer a significant risk of developing multiple malignancies, often at an earlier age than in the general population. While less widely recognised than BRCA1/2, CHEK2 is increasingly clinically relevant and requires tailored surveillance and multidisciplinary management.

Case Presentation: We report a 57-year-old man from northern Portugal, a carrier of a germline CHEK2 mutation, who developed three primary malignancies over a decade: renal cell carcinoma, rectal adenocarcinoma, and papillary thyroid carcinoma. His family history revealed clustering of cancers, including breast, prostate, laryngeal, brain, and sarcoma, with a paternal aunt confirmed as a CHEK2 carrier. Care was organised longitudinally, with primary care playing a central role in coordinating follow-up across oncology, genetics, endocrinology and haematology. Despite a heavy oncological burden and ongoing tobacco exposure, the patient consistently showed optimism, trust in his medical team and good engagement with follow-up, reflecting a high level of psychosocial resilience.

Conclusion: Our clinical experience was enriched by the patient’s resilience, which highlights the need to integrate psychosocial support into hereditary cancer care.

Keywords: CHEK2; genetic; mutation; family medicine; resilience