Table 6. Average age of cancer diagnosis and cumulative cancer risk to age 80 by Lynch syndrome gene and cancer site.
Surveillance epidemiology, and end results cumulative incidence data are provided for comparison. Adapted with permission from the NCCN Clinical Practice Guidelines in Oncology (NCCN Guidelines®) for Genetic/Familial High-Risk Assessment: Colorectal, Version 1.2022. © 2021 National Comprehensive Cancer Network, Inc. All rights reserved. The NCCN Guidelines® and illustrations herein may not be reproduced in any form for any purpose without the express written permission of NCCN. To view the most recent and complete version of the NCCN Guidelines, go online to NCCN.org. The NCCN Guidelines are a work in progress that may be refined as often as new significant data becomes available. NCCN makes no warranties of any kind whatsoever regarding their content, use or application and disclaims any responsibility for their application or use in any way.66
| MLH1 | MLH2/EPCAM | MSH6 | PMS2 | Cumulative lifetime risk, general population # | |||||
|---|---|---|---|---|---|---|---|---|---|
| Cancer Risk Site | Estimated Average Age of Presentation | Cumulative risk for diagnosis through age 80 y | Estimated Average Age of Presentation | Cumulative risk for diagnosis through age 80 y | Estimated Average Age of Presentation | Cumulative risk for diagnosis through age 80 y | Estimated Average Age of Presentation | Cumulative risk for diagnosis through age 80 y | |
| Colorectal | 44 y | 46%–61% | 44 y | 33%–52% | 42–69 y | 10%-44% | 61–66 y | 8.7%-20% | 4.2% |
| Endometrial | 49 y | 34%–54% | 47–48 y | 21%–57% | 53–55 y | 16%-49% | 49–50 y | 13%-26% | 3.1% |
| Ovarian | 46 y | 4%–20% | 43 y | 8%–38% | 46 y | <1%-13% | 51–59 y | 1.3%-3% | 1.3% |
| Renal pelvis/and or ureter | 59–60 y | 0.2%–5% | 54–61 y | 2.2%–28% | 65–69 y | 0.7%-5.5% | Uncertain* | ≤1%-3.7% | **** |
| Bladder | 59 y | 2%–7% | 59 y | 4.4%–12.8% | 71 y | 1.0%-8.2% | 71 y | ≤1%-2.4% | 2.4% |
| Gastric | 52 y | 5%–7% | 52 y | 0.2%–9.0% | Uncertain** | ≤1%-7.9% | Uncertain* | Uncertain* | 0.9% |
| Small bowel | 47 y | 0.4%–11% | 48 y | 1.1%-10% | 54 y | ≤1%-4% | *** | 0.1%-0.3% | 0.3% |
| Pancreas | Uncertain* | 6.2% | Uncertain* | 0.5%–1.6% | Uncertain* | 1.4%-1.6% | Uncertain* | ≤1%--1.6% | 1.6% |
| Biliary Tract | 50 y | 1.9%–3.7% | 57 y | 0.02%-1.7% | Uncertain* | 0.2%-≤1% | Uncertain* | 0.2%-≤1% | 0.2% |
| Prostate | 63 y | 4.4%–13.8% | 59–63 y | 3.9%-23.8% | 63 y | 2.5%-11.6% | No data | 4.6%-11.6% | 11.6% |
| Brain | Uncertain* | 0.7%–-1.7% | Uncertain* | 2.5%-7.7% | 43–54 y | 0.8—1.8% | 40 y | 0.6%--≤1% | 0.6% |
y, years;
Cumulative risk for the general population represents cumulative incidence reported by the Surveillance, Epidemiology, and End Results 21 program data, y, years; 2014–2016, accessed October 8, 2019 at SEER*Explorer (https://seer.cancer.gov/)
NCCN reported as “uncertain”;
NCCN reported as 2 cases reported at age 45 and 81;
NCCN reported as: single case - 59 y;
NCCN noted cumulative incidence for general population for this category not available through SEER*Explorer