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Genetic/Familial High-Risk Assessment: Colorectal NCCN Clinical Practice Guidelines in Oncology (NCCN Guidelines®) Genetic/Familial High-Risk Assessment: Colorectal Version 2.2019 — August 8, 2019 NCCN.org Continue Version 2.2019, 08/08/19 © 2019 National Comprehensive Cancer Network® (NCCN®), All rights reserved. NCCN Guidelines® and this illustration may not be reproduced in any form without the express written permission of NCCN. Printed by PEDRO ANTONIO PARRA BAOS on 11/18/2019 12:12:24 PM. For personal use only. Not approved for distribution. Copyright © 2019 National Comprehensive Cancer Network, Inc., All Rights Reserved. NCCN Guidelines Index NCCN Guidelines Version 2.2019 Table of Contents Genetic/Familial High-Risk Assessment: Colorectal Discussion *Dawn Provenzale, MD, MS/Chair ¤ Þ Michael J. Hall, MD, MS † ∆ Arnold J. Markowitz, MD ¤ Duke Cancer Institute Fox Chase Cancer Center Memorial Sloan Kettering Cancer Center *Samir Gupta, MD/Vice-chair ¤ Amy L. Halverson, MD ¶ Robert J. Mayer, MD † Þ UC San Diego Moores Cancer Center Robert H. Lurie Comprehensive Cancer Dana-Farber/Brigham and Women’s Center of Northwestern University Cancer Center Dennis J. Ahnen, MD ¤ University of Colorado Cancer Center Stanley R. Hamilton, MD ≠ June Mikkelson, MS, CGC ∆ The University of Texas Roswell Park Cancer Institute Lee-May Chen, MD ¶ MD Anderson Cancer Center UCSF Helen Diller Family Reid M. Ness, MD, MPH ¤ Comprehensive Cancer Center Heather Hampel, MS, CGC ∆ Vanderbilt-Ingram Cancer Center The Ohio State University Comprehensive Daniel C. Chung, MD ¤ ∆ Cancer Center - James Cancer Hospital Shajan Peter, MD ¤ Massachusetts General Hospital and Solove Research Institute O'Neal Comprehensive Cancer Center Cancer Center at UAB Sigurdis Haraldsdottir, MD, PhD † Gregory Cooper, MD ¤ Stanford Cancer Institute Scott E. Regenbogen, MD ¶ Case Comprehensive Cancer Center/ University of Michigan University Hospitals Seidman Cancer Priyanka Kanth, MD, MS ¤ Rogel Cancer Center Center and Cleveland Clinic Taussig Huntsman Cancer Institute Cancer Institute at the University of Utah Niloy Jewel Samadder, MD ¤ Mayo Clinic Cancer Center Dayna S. Early, MD ¤ Jason B. Klapman, MD ¤ Siteman Cancer Center at Barnes- Moffitt Cancer Center Thomas P. Slavin Jr, MD ∆ Jewish Hospital and Washington City of Hope University School of Medicine Audrey J. Lazenby, MD ≠ National Medical Center Fred & Pamela Buffett Cancer Center Francis M. Giardiello, MD, MBA ¤ Jennifer M. Weiss, MD, MS ¤ The Sidney Kimmel Comprehensive Xavier Llor, MD, PhD ¤ Þ University of Wisconsin Cancer Center at Johns Hopkins Yale Cancer Center/ Carbone Cancer Center Smilow Cancer Hospital William Grady, MD ¤ Patrick M. Lynch, MD, JD ¤ NCCN Fred Hutchinson Cancer Research Ndiya Ogba, PhD Center/Seattle Cancer Care Alliance The University of Texas MD Anderson Cancer Center Mary Dwyer, MS ∆ Cancer genetics ¥ Patient advocacy ¤ Gastroenterology ¶ Surgery/Surgical Continue Þ Internal medicine oncology NCCN Guidelines Panel Disclosures † Medical oncology * Discussion Writing ≠ Pathology Committee Member Version 2.2019, 08/08/19 © 2019 National Comprehensive Cancer Network® (NCCN®), All rights reserved. NCCN Guidelines® and this illustration may not be reproduced in any form without the express written permission of NCCN. Printed by PEDRO ANTONIO PARRA BAOS on 11/18/2019 12:12:24 PM. For personal use only. Not approved for distribution. Copyright © 2019 National Comprehensive Cancer Network, Inc., All Rights Reserved. NCCN Guidelines Index NCCN Guidelines Version 2.2019 Table of Contents Genetic/Familial High-Risk Assessment: Colorectal Discussion NCCN Genetic/Familial High-Risk Assessment: Colorectal Panel Members Clinical Trials: NCCN believes that Summary of the Guidelines Updates the best management for any patient with cancer is in a clinical trial. High-Risk Colorectal Cancer Syndromes Participation in clinical trials is • Assessment for Hereditary Colorectal Cancer Syndrome (HRS-1) especially encouraged. • Principles of Cancer Risk Assessment and Counseling (HRS-A) To find clinical trials online at NCCN Member Institutions, click here: Non-Polyposis Syndrome nccn.org/clinical_trials/clinicians.aspx. • Lynch Syndrome (Hereditary Nonpolyposis Colorectal Cancer) (LS-1) NCCN Categories of Evidence and Principles of IHC and MSI Testing for Lynch Syndrome (LS-A) Consensus: All recommendations Cancer Risks in Lynch Syndrome by Gene Compared to the General Population (LS-B) are category 2A unless otherwise indicated. Polyposis Syndromes See NCCN Categories of Evidence and Consensus. • Adenomatous Polyposis Testing Criteria (POLYP-1) • Familial Adenomatous Polyposis/AFAP (FAP/AFAP-1) Familial Adenomatous Polyposis (FAP-1) ◊ Surgical Options for Treating the Colon and Rectum in Patients with FAP (FAP-A) Attenuated Familial Adenomatous Polyposis (AFAP-1) MUTYH-Associated Polyposis (MAP-1) • Peutz-Jeghers Syndrome (PJS-1) • Juvenile Polyposis Syndrome (JPS-1) • Serrated Polyposis Syndrome (SPS-1) • Colonic Adenomatous Polyposis of Unknown Etiology (CPUE-1) • Multi-Gene Testing (GENE-1) The NCCN Guidelines® are a statement of evidence and consensus of the authors regarding their views of currently accepted approaches to treatment. Any clinician seeking to apply or consult the NCCN Guidelines is expected to use independent medical judgment in the context of individual clinical circumstances to determine any patient’s care or treatment. The National Comprehensive Cancer Network® (NCCN®) makes no representations or warranties of any kind regarding their content, use or application and disclaims any responsibility for their application or use in any way. The NCCN Guidelines are copyrighted by National Comprehensive Cancer Network®. All rights reserved. The NCCN Guidelines and the illustrations herein may not be reproduced in any form without the express written permission of NCCN. ©2019. Version 2.2019, 08/08/19 © 2019 National Comprehensive Cancer Network® (NCCN®), All rights reserved. NCCN Guidelines® and this illustration may not be reproduced in any form without the express written permission of NCCN. Printed by PEDRO ANTONIO PARRA BAOS on 11/18/2019 12:12:24 PM. For personal use only. Not approved for distribution. Copyright © 2019 National Comprehensive Cancer Network, Inc., All Rights Reserved. NCCN Guidelines Index NCCN Guidelines Version 2.2019 Table of Contents Genetic/Familial High-Risk Assessment: Colorectal Discussion Updates in Version 2.2019 of the NCCN Guidelines for Genetic/Familial High-Risk Assessment: Colorectal from Version 1.2019 include: LS-B 1 of 2 • Cancer Risks in Lynch Syndrome by Gene Compared to the General Population table, the breast cancer risk for MLH1 was changed from "12%–25%" to "12%-17%." Updates in Version 1.2019 of the NCCN Guidelines for Genetic/Familial High-Risk Assessment: Colorectal from Version 1.2018 include: High-Risk Colorectal Cancer Syndromes HRS-A 4 of 6 HRS-1 • For family history of cancer and expanded pedigree, 2nd bullet was changed • Assessment for hereditary CRC syndrome from "Minimal data set on each affected relative" to "Recommended data First question was revised, "Is there a personal history or family on each affected relative" and two additional sub-bullet were added, "Birth history of a known pathogenic variant in a colorectal polyposis or resulting from sperm or egg donor" and "History of allogeneic (related or cancer gene genetic mutation or known genetic mutation in the unrelated donor) bone marrow transplant." family? If No, the criteria was revised, "Personal or family history of:" and Lynch Syndrome "Family history of: >1 relative with polyposis" was removed. LS-1 • Footnote b was added, "Pathogenic variant includes likely pathogenic • The algorithm and footnotes on this page were extensively revised. variant. Slavin TP, Van Tongeren LR, Behrendt CE, et al. Prospective LS-2 study of cancer genetic variants: Variation in rate of reclassification by • Lynch Syndrome Management ancestry. J Natl Cancer Inst 2018;110:1059-1066." Other Extracolonic Cancers • Footnote c was added, "Irrespective of degree of relatedness." (Also for ◊ Gastric and small bowel cancer recommendation was revised, “...Also, LS-1 and POLYP-1) individuals of Asian descent (or from countries with high background HRS-2 incidence of gastric cancer) may have increased risk for stomach cancer • Qualifier "≥5 serrated polyps" was revised by adding "proximal to and may benefit from surveillance.” sigmoid colon." ◊ Urothelial cancer recommendation was revised, “There is no clear evidence • After qualifier >10 adenomas, "Rare genetic causes of multiple to support surveillance for urothelial cancers in LS. Surveillance may adenomatous polyps" was added with corresponding footnote i. be considered in selected individuals such as with a family history of HRS-3 urothelial cancer or individuals with MSH2 pathogenic variants (especially • The "Criteria for the Evaluation of Lynch Syndrome" were reorganized by personal history, family history and increased model-predicted risk males) as these groups appear to be at higher risk may want to consider for Lynch syndrome. screening surveillance." • Personal history, 3rd sub-bullet was revised by removing, "diagnosed Footnotes ≤60 y" ◊ Footnote o was added, "Patients who may benefit from a shorter 1- versus • Increased model-predicted risk for Lynch syndrome, sub-bullet was longer 2-year interval include those with risk factors such as history of revised, "An individual with a LS-related cancer or unaffected individual CRC, male sex, MLH1/MSH2 pathogenic variant, age >40 years,
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