Clin Colon Rectal Surg 2024; 37(03): 198-202
DOI: 10.1055/s-0043-1770733
Review Article

Hereditary Colorectal Cancer Syndromes Registry: What, How, and Why?

Mohammad Ali Abbass
1   Department of Surgery, Northwestern University Feinberg School of Medicine, Chicago, Illinois
,
Vitaliy Poylin
1   Department of Surgery, Northwestern University Feinberg School of Medicine, Chicago, Illinois
,
Scott Strong
1   Department of Surgery, Northwestern University Feinberg School of Medicine, Chicago, Illinois
› Author Affiliations

Abstract

Caring for patients with colorectal cancer inherited cancer syndromes is complex, and it requires a well-thought integration process between a multidisciplinary team, an accessible database, and a registry coordinator. This requires an aligned vision between the administrative business team and the clinical team.

Although we can manage most of the cancers that those patients develop according to oncologic guidance, the future risk of patients and their families might add emotional and psychological burdens on them in the absence of a well-qualified and trained team where balancing quality of life and cancer risk are at the essence of decision making.



Publication History

Article published online:
31 July 2023

© 2023. Thieme. All rights reserved.

Thieme Medical Publishers, Inc.
333 Seventh Avenue, 18th Floor, New York, NY 10001, USA

 
  • References

  • 1 American Cancer Society. Cancer Facts & Figures 2023. Atlanta, GA: American Cancer Society; 2023
  • 2 Siegel RL, Fedewa SA, Anderson WF. et al. Colorectal cancer incidence patterns in the United States, 1974-2013. J Natl Cancer Inst 2017; 109 (08) djw322
  • 3 Rahib L, Wehner MR, Matrisian LM, Nead KT. Estimated projection of US cancer incidence and death to 2040. JAMA Netw Open 2021; 4 (04) e214708
  • 4 Liang J, Kalady MF, Church J. Young age of onset colorectal cancers. Int J Colorectal Dis 2015; 30 (12) 1653-1657
  • 5 Kastrinos F, Samadder NJ, Burt RW. Use of family history and genetic testing to determine risk of colorectal cancer. Gastroenterology 2020; 158 (02) 389-403
  • 6 Pearlman R, Frankel WL, Swanson B. et al; Ohio Colorectal Cancer Prevention Initiative Study Group. Prevalence and spectrum of germline cancer susceptibility gene mutations among patients with early-onset colorectal cancer. JAMA Oncol 2017; 3 (04) 464-471
  • 7 Burt R, Neklason DW. Genetic testing for inherited colon cancer. Gastroenterology 2005; 128 (06) 1696-1716
  • 8 Win AK, Jenkins MA, Dowty JG. et al. Prevalence and penetrance of major genes and polygenes for colorectal cancer. Cancer Epidemiol Biomarkers Prev 2017; 26 (03) 404-412
  • 9 Stoffel EM, Murphy CC. Epidemiology and mechanisms of the increasing incidence of colon and rectal cancers in young adults. Gastroenterology 2020; 158 (02) 341-353
  • 10 Vasen HF, Watson P, Mecklin JP, Lynch HT. New clinical criteria for hereditary nonpolyposis colorectal cancer (HNPCC, Lynch syndrome) proposed by the International Collaborative group on HNPCC. Gastroenterology 1999; 116 (06) 1453-1456
  • 11 Stoll J, Kupfer SS. Risk assessment and genetic testing for inherited gastrointestinal syndromes. Gastroenterol Hepatol (N Y) 2019; 15 (09) 462-470
  • 12 Hampel H, Frankel WL, Martin E. et al. Screening for the Lynch syndrome (hereditary nonpolyposis colorectal cancer). N Engl J Med 2005; 352 (18) 1851-1860
  • 13 National Comprehensive Cancer Network. Genetic/Familial High-Risk Assessment: Colorectal (Version 2.2022). Accessed December 10, 2022 at: https://www.nccn.org/professionals/physician_gls/pdf/genetics_colon.pdf
  • 14 Muller C, Nielsen SM, Hatchell KE. et al. Underdiagnosis of hereditary colorectal cancers among Medicare patients: genetic testing criteria for Lynch syndrome miss the mark. JCO Precis Oncol 2021; 5: 21
  • 15 Yurgelun MB, Kulke MH, Fuchs CS. et al. Cancer susceptibility gene mutations in individuals with colorectal cancer. J Clin Oncol 2017; 35 (10) 1086-1095
  • 16 Gliklich R. Patient Registries; 2012. Accessed on December 12, 2022 at: https://www.pcori.org/assets/11-Gliklich-Slides-Registries.pdf
  • 17 Kölker S, Gleich F, Mütze U, Opladen T. Rare disease registries are key to evidence-based personalized medicine: highlighting the European experience. Front Endocrinol (Lausanne) 2022; 13: 832063
  • 18 Vasen HF, Velthuizen ME, Kleibeuker JH. et al. Hereditary cancer registries improve the care of patients with a genetic predisposition to cancer: contributions from the Dutch Lynch syndrome registry. Fam Cancer 2016; 15 (03) 429-435
  • 19 Austin H, Henley SJ, King J, Richardson LC, Eheman C. Changes in colorectal cancer incidence rates in young and older adults in the United States: what does it tell us about screening. Cancer Causes Control 2014; 25 (02) 191-201
  • 20 Coughlin SS, Blumenthal DS, Seay SJ, Smith SA. Toward the elimination of colorectal cancer disparities among African Americans. J Racial Ethn Health Disparities 2016; 3 (04) 555-564
  • 21 Sineshaw HM, Ng K, Flanders WD, Brawley OW, Jemal A. Factors that contribute to differences in survival of black vs white patients with colorectal cancer. Gastroenterology 2018; 154 (04) 906-915.e7
  • 22 Musselwhite LW, May FP, Salem ME, Mitchell EP. Colorectal cancer: in the pursuit of health equity. Am Soc Clin Oncol Educ Book 2021; 41: 108-117
  • 23 Pop B, Pop B, Fetica B, Blaga ML. et al. The role of medical registries, potential applications and limitations. Med Pharm Rep 2019; 92 (01) 7-14
  • 24 Mauer CB, Reys BD, Hall RE, Campbell CL, Pirzadeh-Miller SM. Downstream revenue generated by a cancer genetic counselor. JCO Oncol Pract 2021; 17 (09) e1394-e1402
  • 25 Muller C, Nielsen SM, Hatchell KE. et al. Underdiagnosis of hereditary colorectal cancers among medicare patients: genetic testing criteria for Lynch syndrome miss the mark. JCO Precis Oncol 2021; 5: 21
  • 26 Jasperson K. Colorectal cancer: cascade genetic testing in Lynch syndrome: room for improvement. Nat Rev Gastroenterol Hepatol 2013; 10 (09) 506-508
  • 27 Seppälä TT, Dominguez-Valentin M, Sampson JR, Møller P. Prospective observational data informs understanding and future management of Lynch syndrome: insights from the Prospective Lynch Syndrome Database (PLSD). Fam Cancer 2021; 20 (01) 35-39
  • 28 Burn J, Sheth H, Elliott F. et al; CAPP2 Investigators. Cancer prevention with aspirin in hereditary colorectal cancer (Lynch syndrome), 10-year follow-up and registry-based 20-year data in the CAPP2 study: a double-blind, randomised, placebo-controlled trial. Lancet 2020; 395 (10240): 1855-1863
  • 29 Perkins AT, Haslem D, Goldsberry J. et al. Universal germline testing of unselected cancer patients detects pathogenic variants missed by standard guidelines without increasing healthcare costs. Cancers (Basel) 2021; 13 (22) 5612