دورية أكاديمية
An updated counseling framework for moderate-penetrance colorectal cancer susceptibility genes.
| العنوان: | An updated counseling framework for moderate-penetrance colorectal cancer susceptibility genes. |
|---|---|
| المؤلفون: | Breen KE; Clinical Genetics Service, Department of Medicine, Memorial Sloan Kettering Cancer Center, New York, NY., Katona BW; Division of Gastroenterology, Department of Medicine, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA., Catchings A; Clinical Genetics Service, Department of Medicine, Memorial Sloan Kettering Cancer Center, New York, NY., Ranganathan M; Clinical Genetics Service, Department of Medicine, Memorial Sloan Kettering Cancer Center, New York, NY., Marcell V; Clinical Genetics Service, Department of Medicine, Memorial Sloan Kettering Cancer Center, New York, NY., Latham A; Clinical Genetics Service, Department of Medicine, Memorial Sloan Kettering Cancer Center, New York, NY., Yurgelun MB; Dana-Farber Cancer Institute and Brigham and Women's Hospital, Harvard Medical School, Boston, MA., Stadler ZK; Clinical Genetics Service, Department of Medicine, Memorial Sloan Kettering Cancer Center, New York, NY. Electronic address: stadlerz@mskcc.org. |
| المصدر: | Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2022 Dec; Vol. 24 (12), pp. 2587-2590. Date of Electronic Publication: 2022 Oct 12. |
| نوع المنشور: | Journal Article; Meta-Analysis; Research Support, N.I.H., Extramural |
| اللغة: | English |
| بيانات الدورية: | Publisher: Elsevier Country of Publication: United States NLM ID: 9815831 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1530-0366 (Electronic) Linking ISSN: 10983600 NLM ISO Abbreviation: Genet Med Subsets: MEDLINE |
| أسماء مطبوعة: | Publication: 2022- : [New York] : Elsevier Original Publication: Baltimore, MD : Lippincott, Williams & Wilkins, c1998- |
| مواضيع طبية MeSH: | Colorectal Neoplasms*/diagnosis , Colorectal Neoplasms*/epidemiology , Colorectal Neoplasms*/genetics , Genetic Predisposition to Disease* , Genetic Counseling*, Adult ; Humans ; Middle Aged ; Checkpoint Kinase 2/genetics ; Heterozygote ; Penetrance |
| مستخلص: | Purpose: With the recent guideline change for individuals at average risk for colorectal cancer (CRC) to initiate colonoscopy at the age of 45 years, there is a need to provide an updated counseling framework for individuals with variants in moderate-penetrance CRC susceptibility genes. Methods: Population age-specific incidence rates for CRC were obtained from the 2014-2018 US Surveillance, Epidemiology, and End Results Program cancer statistics. Average-risk multipliers derived from a systematic meta-analysis were used to calculate the 5-year and cumulative lifetime risks for specific genetic variants associated with a moderate risk for CRC: NM_007194.4(CHEK2):c.1100del (p.Thr367fs), NM_007194.4(CHEK2):c.470T>C (p.Ile157Thr), NM_000038.6(APC):c.3920T>A (p.Ile1307Lys) and monoallelic MUTYH. Results: When an individual at average risk would initiate colonoscopy at age 45 years, a CRC risk of 0.39% is reached. For CHEK2 1100delC, CHEK2 I157T, and APC I1307K heterozygotes, this same level of risk is reached (or nearly reached) by age 40 to 45 years. For individuals with a monoallelic MUTYH variant, the CRC risk is 0.46% by age 45 to 49 years, similar to individuals at average risk. Conclusion: These updated calculations support recommendations to initiate earlier colonoscopy surveillance for CHEK2 and APC I1307K germline variant heterozygotes. However, earlier surveillance is not indicated for individuals with monoallelic MUTYH germline variants in the absence of family history. Competing Interests: Conflict of Interest M.B.Y. has received research funding from Janssen Pharmaceuticals and UpToDate fees for peer review services. All other authors declare no conflicts of interest. (Copyright © 2022. Published by Elsevier Inc.) |
| معلومات مُعتمدة: | P30 CA008748 United States CA NCI NIH HHS |
| فهرسة مساهمة: | Keywords: Colonoscopy; Colorectal neoplasms; Genetic counseling; Germline variant; Risk Assessment |
| المشرفين على المادة: | EC 2.7.1.11 (Checkpoint Kinase 2) |
| تواريخ الأحداث: | Date Created: 20221012 Date Completed: 20221212 Latest Revision: 20221212 |
| رمز التحديث: | 20240829 |
| DOI: | 10.1016/j.gim.2022.08.027 |
| PMID: | 36222830 |
| قاعدة البيانات: | MEDLINE |
| تدمد: | 1530-0366 |
|---|---|
| DOI: | 10.1016/j.gim.2022.08.027 |