CHEK2-associated multiple primary malignancies: a case report with longitudinal multidisciplinary management
Year: 2026
Type: article
Study design: Case Report
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.
Institution: Unidade Local de Saúde do Médio Ave
Language: English
Subfield: Epidemiology
Field: Medicine
Domain: Health Sciences
Open Access status: diamond
OpenAlex ID: W7203932082