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Effect of Genetic Profiling on Surgical Decisions at Hereditary Colorectal Cancer Syndromes Publisher



Goudarzi Y1, 15 ; Monirvaghefi K2, 15 ; Aghaei S3 ; Amiri SS4 ; Rezaei M5 ; Dehghanitafti A6 ; Azarpey A7 ; Azani A8, 9 ; Pakmehr S10 ; Eftekhari HR11 ; Tahmasebi S12 ; Zohourian Shahzadi S13 ; Rajabivahid M14
Authors
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Authors Affiliations
  1. 1. Department of Medical Science, Shahroud Branch, Islamic Azad University, Iran
  2. 2. Department of Adult Hematology & Oncology, School of Medicine, Ayatollah Khansari Hospital, Arak University of Medical Sciences, Arak, Iran
  3. 3. Faculty of Medicine, Medical University of Kurdistan, Sanandaj, Iran
  4. 4. Department of Medicine, Tehran University of Medical Sciences (TUMS), Tehran, Iran
  5. 5. Clinical Research Department, Pasteur Institute of Iran, Tehran, Iran
  6. 6. Department of General Surgery, School of Medicine, Golestan University of Medical Sciences, Gorgan, Iran
  7. 7. Emory University School of Medicine, GA, Atlanta, United States
  8. 8. Department of Medical Genetics, Faculty of Medicine, Tehran University of Medical Sciences, Tehran, Iran
  9. 9. Department of Biology, Science and Research Branch, Islamic Azad University, Tehran, Iran
  10. 10. School of Medicine, Shiraz University of Medical Sciences, Shiraz, Iran
  11. 11. Drug Applied Research Center, Tabriz University of Medical Sciences, Tabriz, Iran
  12. 12. Student Research Committee, Department of Immunology, School of Medicine, Shahid Beheshti University of Medical Sciences, Tehran, Iran
  13. 13. Erfan Hospital, Iran University of Medical Sciences, Tehran, Iran
  14. 14. Department of Internal Medicine, Valiasr Hospital, Zanjan University of Medical Sciences, Zanjan, Iran
  15. 15. These authors contributed the same in the preparation of the manuscript and are considered as co-first authors.

Source: Heliyon Published:2024


Abstract

Hereditary colorectal cancer syndromes, such as Lynch syndrome and familial adenomatous polyposis (FAP), present significant clinical challenges due to the heightened cancer risks associated with these genetic conditions. This review explores genetic profiling impact on surgical decisions for hereditary colorectal cancer (HCRC), assessing options, timing, and outcomes. Genotypes of different HCRCs are discussed, revealing a connection between genetic profiles, disease severity, and outcomes. For Lynch syndrome, mutations in the MLH1, MSH2, MSH6, and PMS2 genes guide the choice of surgery. Subtotal colectomy is recommended for patients with mutations in MLH1 and MSH2, while segmental colectomy is preferred for those with MSH6 and PMS2 mutations. In cases of metachronous colon cancer after segmental colectomy, subtotal colectomy with ileorectal anastomosis is advised for all mutations. Surgical strategies for primary rectal cancer include anterior resection or abdominoperineal resection (APR), irrespective of the specific mutation. For rectal cancer occurring after a previous segmental colectomy, proctocolectomy with ileal pouch-anal anastomosis (IPAA) or APR with a permanent ileostomy is recommended. In FAP, surgical decisions are based on genotype-phenotype correlations. The risk of desmoid tumors post-surgery supports a single-stage approach, particularly for certain APC gene variants. Juvenile Polyposis Syndrome (JPS) surgical decisions involve genetic testing, polyp characteristics with attention to vascular lesions in SMAD4 mutation carriers. However, genetic profiling does not directly dictate the specific surgical approach for JPS. In conclusion this review highlights the critical role of personalized surgical plans based on genetic profiles to optimize patient outcomes and reduce cancer risk. Further research is needed to refine these strategies and enhance clinical guidelines. © 2024
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