BRCA1, BRCA2, and Associated Cancer Risks and Management for Male Patients: A Review.

Autor:	Cheng HH; Clinical Research Division, Fred Hutchinson Cancer Center, Seattle, Washington.; Department of Medicine (Hematology and Oncology), University of Washington, Seattle., Shevach JW; Division of Medical Oncology, Duke University School of Medicine, Durham, North Carolina., Castro E; Department of Medical Oncology, Hospital Universitario 12 de Octubre, Madrid, Spain., Couch FJ; Division of Experimental Pathology and Laboratory Medicine, Mayo Clinic, Rochester, New York., Domchek SM; Department of Medicine, Basser Center for BRCA and Abramson Cancer Center, University of Pennsylvania, Philadelphia., Eeles RA; The Institute of Cancer Research and Royal Marsden NHS Foundation Trust, London, United Kingdom., Giri VN; Yale School of Medicine and Yale Cancer Center, New Haven, Connecticut., Hall MJ; Department of Clinical Genetics, Fox Chase Cancer Center, Philadelphia, Pennsylvania., King MC; Department of Medicine (Medical Genetics) and Department of Genome Sciences, University of Washington, Seattle., Lin DW; Clinical Research Division, Fred Hutchinson Cancer Center, Seattle, Washington.; Department of Urology, University of Washington, Seattle., Loeb S; Department of Urology and Population Health, New York University School of Medicine, New York.; Department of Surgery/Urology, Manhattan Veterans Affairs, New York, New York., Morgan TM; Department of Urology, University of Michigan, Ann Arbor., Offit K; Clinical Genetics Service, Memorial Sloan Kettering Cancer Center, New York, New York., Pritchard CC; Department of Laboratory Medicine and Pathology, University of Washington, Seattle.; Brotman Baty Institute for Precision Medicine, Seattle, Washington., Schaeffer EM; Department of Urology, Feinberg School of Medicine, Northwestern University, Chicago, Illinois., Szymaniak BM; Department of Urology, Feinberg School of Medicine, Northwestern University, Chicago, Illinois., Vassy JL; Harvard Medical School at VA Boston Healthcare System, Boston, Massachusetts., Katona BW; Department of Medicine, Basser Center for BRCA and Abramson Cancer Center, University of Pennsylvania, Philadelphia., Maxwell KN; Department of Medicine, Basser Center for BRCA and Abramson Cancer Center, University of Pennsylvania, Philadelphia.; Corporal Michael Crescenz Veterans Affairs Medical Center, Philadelphia, Pennsylvania.
Jazyk:	angličtina
Zdroj:	JAMA oncology [JAMA Oncol] 2024 Sep 01; Vol. 10 (9), pp. 1272-1281.
DOI:	10.1001/jamaoncol.2024.2185
Abstrakt:	Importance: Half of all carriers of inherited cancer-predisposing variants in BRCA1 and BRCA2 are male, but the implications for their health are underrecognized compared to female individuals. Germline variants in BRCA1 and BRCA2 (also known as pathogenic or likely pathogenic variants, referred to here as BRCA1/2 PVs) are well known to significantly increase the risk of breast and ovarian cancers in female carriers, and knowledge of BRCA1/2 PVs informs established cancer screening and options for risk reduction. While risks to male carriers of BRCA1/2 PVs are less characterized, there is convincing evidence of increased risk for prostate cancer, pancreatic cancer, and breast cancer in males. There has also been a rapid expansion of US Food and Drug Administration-approved targeted cancer therapies, including poly ADP ribose polymerase (PARP) inhibitors, for breast, pancreatic, and prostate cancers associated with BRCA1/2 PVs. Observations: This narrative review summarized the data that inform cancer risks, targeted cancer therapy options, and guidelines for early cancer detection. It also highlighted areas of emerging research and clinical trial opportunities for male BRCA1/2 PV carriers. These developments, along with the continued relevance to family cancer risk and reproductive options, have informed changes to guideline recommendations for genetic testing and strengthened the case for increased genetic testing for males. Conclusions and Relevance: Despite increasing clinical actionability for male carriers of BRCA1/2 PVs, far fewer males than female individuals undergo cancer genetic testing. Oncologists, internists, and primary care clinicians should be vigilant about offering appropriate genetic testing to males. Identifying more male carriers of BRCA1/2 PVs will maximize opportunities for cancer early detection, targeted risk management, and cancer treatment for males, along with facilitating opportunities for risk reduction and prevention in their family members, thereby decreasing the burden of hereditary cancer.
Databáze:	MEDLINE
Externí odkaz:	Zobrazit plný text záznamu