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Germline Genetic Testing in CRC: Implications for Familial and Population-Based Testing
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Fay Kastrinos, MD, MPH

Click here to view more from Gastroenterology Data Trends 2023. 

References
  1. Weiss JM et al. J Natl Compr Canc Netw. 2021;19(10):1122-1132. doi:10.1164/jnccn.2021.0048
  2. Samadder NJ et al. JAMA Oncol. 2021;7(2):230-237. doi:10.1001/jamaoncol.2020.6252
  3. Pearlman R et al; Ohio Colorectal Cancer Prevention Initiative Study Group. JAMA Oncol. 2017;3(4):464-471. doi:10.1001/jamaoncol.2016.5194
  4. Stoffel EM et al. Gastroenterology. 2018;154(4):897-905.e1. doi:10.1053/j.gastro.2017.11.004
  5. Stoffel EM, Murphy CC. Gastroenterology. 2020;158(2):341-353. doi:10.1053/j.gastro.2019.07.055
  6. Cavestro GM et al; Associazione Italiana Familiarità Ereditarietà Tumori; Collaborative Group of the Americas on Inherited Gastrointestinal Cancer; European Hereditary Tumour Group, and the International Society for Gastrointestinal Hereditary Tumours. Clin Gastroenterol Hepatol. 2023;21(3):581-603.e33. doi:10.1016/j.cgh.2022.12.006
  7. Gupta S et al. Cancer. 2020;126(13):3013-3020. doi:10.1002/cncr.32851
  8. Stanich PP et al. Gastroenterology. 2021;160(5):1850-1852. doi:10.1053/j.gastro.2020.12.009
  9. Rustgi S et al. Universal screening strategies for the identification of Lynch syndrome in colorectal cancer patients and at-risk relatives. Research forum lecture #263 presented at: Digestive Disease Week (DDW) 2023; May 6-9, 2023; Chicago, IL.
  10. Tier 1 genomic applications and their importance to public health. Centers for Disease Control and Prevention. Reviewed March 6, 2014. Accessed August 15, 2023. https://www.cdc.gov/genomics/implementation/toolkit/tier1.htm
  11. Win AK et al. Cancer Epidemiol Biomarkers Prev. 2017;26(3):404-412. doi:10.1158/1055-9965.EPI-16-0693
  12. Yurgelun MB et al. J Clin Oncol. 2017;35(10):1086-1095. doi:10.1200/JCO.2016.71.0012
  13. Pearlman R et al. JCO Precis Oncol. 2021;5:PO.20.00525. doi:10.1200/PO.20.00525
  14. Patel R, Hyer W. Frontline Gastroenterol. 2019;10(4):379-387. doi:10.1136/flgastro-2018-101053
Author and Disclosure Information

Associate Professor of Medicine
Division of Digestive and Liver Diseases
Director, Gastrointestinal Cancer Risk and Prevention Program
Director, Muzzi Mirza Pancreatic Cancer
Prevention and Genetics Program
Columbia University Irving Medical Center
New York Presbyterian Hospital
New York, NY

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GI and Hepatology News
Topics
GI Oncology
Author(s)
Fay Kastrinos, MD, MPH
Author(s)
Fay Kastrinos, MD, MPH
Author and Disclosure Information

Associate Professor of Medicine
Division of Digestive and Liver Diseases
Director, Gastrointestinal Cancer Risk and Prevention Program
Director, Muzzi Mirza Pancreatic Cancer
Prevention and Genetics Program
Columbia University Irving Medical Center
New York Presbyterian Hospital
New York, NY

Author and Disclosure Information

Associate Professor of Medicine
Division of Digestive and Liver Diseases
Director, Gastrointestinal Cancer Risk and Prevention Program
Director, Muzzi Mirza Pancreatic Cancer
Prevention and Genetics Program
Columbia University Irving Medical Center
New York Presbyterian Hospital
New York, NY

Click here to view more from Gastroenterology Data Trends 2023. 

Click here to view more from Gastroenterology Data Trends 2023. 

References
  1. Weiss JM et al. J Natl Compr Canc Netw. 2021;19(10):1122-1132. doi:10.1164/jnccn.2021.0048
  2. Samadder NJ et al. JAMA Oncol. 2021;7(2):230-237. doi:10.1001/jamaoncol.2020.6252
  3. Pearlman R et al; Ohio Colorectal Cancer Prevention Initiative Study Group. JAMA Oncol. 2017;3(4):464-471. doi:10.1001/jamaoncol.2016.5194
  4. Stoffel EM et al. Gastroenterology. 2018;154(4):897-905.e1. doi:10.1053/j.gastro.2017.11.004
  5. Stoffel EM, Murphy CC. Gastroenterology. 2020;158(2):341-353. doi:10.1053/j.gastro.2019.07.055
  6. Cavestro GM et al; Associazione Italiana Familiarità Ereditarietà Tumori; Collaborative Group of the Americas on Inherited Gastrointestinal Cancer; European Hereditary Tumour Group, and the International Society for Gastrointestinal Hereditary Tumours. Clin Gastroenterol Hepatol. 2023;21(3):581-603.e33. doi:10.1016/j.cgh.2022.12.006
  7. Gupta S et al. Cancer. 2020;126(13):3013-3020. doi:10.1002/cncr.32851
  8. Stanich PP et al. Gastroenterology. 2021;160(5):1850-1852. doi:10.1053/j.gastro.2020.12.009
  9. Rustgi S et al. Universal screening strategies for the identification of Lynch syndrome in colorectal cancer patients and at-risk relatives. Research forum lecture #263 presented at: Digestive Disease Week (DDW) 2023; May 6-9, 2023; Chicago, IL.
  10. Tier 1 genomic applications and their importance to public health. Centers for Disease Control and Prevention. Reviewed March 6, 2014. Accessed August 15, 2023. https://www.cdc.gov/genomics/implementation/toolkit/tier1.htm
  11. Win AK et al. Cancer Epidemiol Biomarkers Prev. 2017;26(3):404-412. doi:10.1158/1055-9965.EPI-16-0693
  12. Yurgelun MB et al. J Clin Oncol. 2017;35(10):1086-1095. doi:10.1200/JCO.2016.71.0012
  13. Pearlman R et al. JCO Precis Oncol. 2021;5:PO.20.00525. doi:10.1200/PO.20.00525
  14. Patel R, Hyer W. Frontline Gastroenterol. 2019;10(4):379-387. doi:10.1136/flgastro-2018-101053
References
  1. Weiss JM et al. J Natl Compr Canc Netw. 2021;19(10):1122-1132. doi:10.1164/jnccn.2021.0048
  2. Samadder NJ et al. JAMA Oncol. 2021;7(2):230-237. doi:10.1001/jamaoncol.2020.6252
  3. Pearlman R et al; Ohio Colorectal Cancer Prevention Initiative Study Group. JAMA Oncol. 2017;3(4):464-471. doi:10.1001/jamaoncol.2016.5194
  4. Stoffel EM et al. Gastroenterology. 2018;154(4):897-905.e1. doi:10.1053/j.gastro.2017.11.004
  5. Stoffel EM, Murphy CC. Gastroenterology. 2020;158(2):341-353. doi:10.1053/j.gastro.2019.07.055
  6. Cavestro GM et al; Associazione Italiana Familiarità Ereditarietà Tumori; Collaborative Group of the Americas on Inherited Gastrointestinal Cancer; European Hereditary Tumour Group, and the International Society for Gastrointestinal Hereditary Tumours. Clin Gastroenterol Hepatol. 2023;21(3):581-603.e33. doi:10.1016/j.cgh.2022.12.006
  7. Gupta S et al. Cancer. 2020;126(13):3013-3020. doi:10.1002/cncr.32851
  8. Stanich PP et al. Gastroenterology. 2021;160(5):1850-1852. doi:10.1053/j.gastro.2020.12.009
  9. Rustgi S et al. Universal screening strategies for the identification of Lynch syndrome in colorectal cancer patients and at-risk relatives. Research forum lecture #263 presented at: Digestive Disease Week (DDW) 2023; May 6-9, 2023; Chicago, IL.
  10. Tier 1 genomic applications and their importance to public health. Centers for Disease Control and Prevention. Reviewed March 6, 2014. Accessed August 15, 2023. https://www.cdc.gov/genomics/implementation/toolkit/tier1.htm
  11. Win AK et al. Cancer Epidemiol Biomarkers Prev. 2017;26(3):404-412. doi:10.1158/1055-9965.EPI-16-0693
  12. Yurgelun MB et al. J Clin Oncol. 2017;35(10):1086-1095. doi:10.1200/JCO.2016.71.0012
  13. Pearlman R et al. JCO Precis Oncol. 2021;5:PO.20.00525. doi:10.1200/PO.20.00525
  14. Patel R, Hyer W. Frontline Gastroenterol. 2019;10(4):379-387. doi:10.1136/flgastro-2018-101053
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Germline Genetic Testing in CRC: Implications for Familial and Population-Based Testing
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Scientific advances in DNA sequencing technologies have allowed for the simultaneous testing of multiple genes associated with an inherited susceptibility of CRC. As a result, CRC screening and treatment protocols have been affected by results from germline multigene panel testing,1,2 including but not limited to Lynch syndrome (LS), the most common inherited CRC syndrome, which is associated with mismatch repair deficiency and tumor microsatellite instability.3

A demographic of concern for which systematic genetic risk assessment is recommended is the early-onset (EO) population—people diagnosed with CRC before age 50 years. More than 15% of EO-CRC cases are due to pathogenic variants in cancer susceptibility genes3,4 irrespective of family cancer history, most of which are LS–related and most frequently detected as age at CRC diagnosis decreases.5 Thus, multiple international guidelines recommend that all individuals diagnosed with EO-CRC undergo germline genetic testing6; these results have implications for at-risk relatives, particularly when a familial pathogenic variant is detected and specialized cancer screening or risk-reducing strategies can be pursued in family members, many of whom are cancer-free. The alarming increase in EO-CRC rates has led to a focus on the assessment of familial and inherited CRC risk to optimize screening recommendations among the general population.7,8

Furthermore, universal germline testing of all individuals with CRC is cost-effective and provides optimal surveillance for cancer survivors while also increasing the pool of at-risk, cancer-free relatives who benefi most from cancer screening and prevention protocols.9 In fact, indications for universal germline testing for relatives of individuals with CRC to personalize screening recommendations also supports future consideration for population-based germline genetic testing for LS genes, as the prevalence of the condition is 1 in 279 individuals, with more than 1 million individuals in the United States affected but unaware of their diagnosis.10,11

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