دورية أكاديمية
The importance of genetics for timing and extent of surgery in inherited colorectal cancer syndromes.
| العنوان: | The importance of genetics for timing and extent of surgery in inherited colorectal cancer syndromes. |
|---|---|
| المؤلفون: | Aoun RJN; Division of Colorectal Surgery, Department of Surgery, The Ohio State Wexner Medical Center and The James Comprehensive Cancer Center, Columbus, OH, USA., Kalady MF; Division of Colorectal Surgery, Department of Surgery, The Ohio State Wexner Medical Center and The James Comprehensive Cancer Center, Columbus, OH, USA. Electronic address: matthew.kalady@osumc.edu. |
| المصدر: | Surgical oncology [Surg Oncol] 2022 Aug; Vol. 43, pp. 101765. Date of Electronic Publication: 2022 Apr 13. |
| نوع المنشور: | Journal Article; Review |
| اللغة: | English |
| بيانات الدورية: | Publisher: Elsevier Science Country of Publication: Netherlands NLM ID: 9208188 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1879-3320 (Electronic) Linking ISSN: 09607404 NLM ISO Abbreviation: Surg Oncol Subsets: MEDLINE |
| أسماء مطبوعة: | Publication: Amsterdam : Elsevier Science Original Publication: Oxford ; Boston : Blackwell Scientific Publications, c1992- |
| مواضيع طبية MeSH: | Adenomatous Polyposis Coli*/complications , Adenomatous Polyposis Coli*/genetics , Adenomatous Polyposis Coli*/surgery , Colonic Neoplasms*/surgery , Colorectal Neoplasms*/complications , Colorectal Neoplasms*/genetics , Colorectal Neoplasms*/surgery , Colorectal Neoplasms, Hereditary Nonpolyposis*/complications , Colorectal Neoplasms, Hereditary Nonpolyposis*/genetics , Colorectal Neoplasms, Hereditary Nonpolyposis*/surgery, Colectomy ; Humans |
| مستخلص: | Approximately 5% of colorectal cancers arise within an inherited colorectal cancer syndrome, with known underlying genetic etiologies. These syndromes increase the risk of colorectal and extracolonic cancers. Identification of a specific genetic pathogenic variant defines the syndrome, and quantifies the elevated risks compared to the general population. Thus, knowing and understanding the risks associated with each pathogenic variant allows for risk-stratification and a more individualized management strategy. These factors influence both the timing of surgery and the extent of colorectal surgery for patients with these syndromes. Familial Adenomatous Polyposis (FAP) is a dominantly inherited polyposis syndrome caused by pathogenic variant in the APC gene and results in a near 100% chance of developing colorectal cancer if not treated. There is a genotype-phenotype correlation in which the affected gene locus is associated with severity of polyposis and the risk of desmoid disease. Prophylactic surgery ranging from total abdominal colectomy or total proctocolectomy is recommended before cancer develops. Lynch syndrome is a non-polyposis inherited syndrome caused by a pathogenic variant in MLH1, MSH2, MSH6, or PMS2. Although prophylactic colectomy in Lynch syndrome is uncommon, total abdominal colectomy as prophylaxis in the setting of colon cancer is recommended due to the likelihood of metachronous colorectal cancer. This article reviews the role of genetics surgical decision making with respect to the timing and extent of surgery within the hereditary colorectal cancer syndromes. (Copyright © 2022. Published by Elsevier Ltd.) |
| فهرسة مساهمة: | Keywords: Colectomy; Colorectal cancer; Familial adenomatous polyposis; Hereditary non-polyposis colorectal cancer; Lynch syndrome; Polyposis |
| تواريخ الأحداث: | Date Created: 20220601 Date Completed: 20220913 Latest Revision: 20220913 |
| رمز التحديث: | 20240628 |
| DOI: | 10.1016/j.suronc.2022.101765 |
| PMID: | 35643746 |
| قاعدة البيانات: | MEDLINE |
Full Text via ClinicalKey 
Full Text Finder | تدمد: | 1879-3320 |
|---|---|
| DOI: | 10.1016/j.suronc.2022.101765 |