Genomics Precision Diagnostic > Oncology > Oncology Hereditary Colorectal Cancer

Hereditary Colorectal Cancer

Hereditary cancer syndromes are encountered in all medical specialties. Although they account for about 5% of all malignancies, it is of special importance to identify these patients because, unlike patients with sporadic cancers, they require special, long-term care as their predisposition can cause them to develop certain tumors at a relatively early age.

The Igenomix Hereditary Colorectal Cancer Precision Panel provides a comprehensive analysis of the most common hereditary Colorectal Cancer syndromes using next-generation sequencing (NGS) to fully understand the spectrum of relevant colorectal cancer predisposition genes.

Overview

Hereditary cancer syndromes are encountered in all medical specialties. Although they account for about 5% of all malignancies, it is of special importance to identify these patients because, unlike patients with sporadic cancers, they require special, long-term care as their predisposition can cause them to develop certain tumors at a relatively early age. These cancers can arise in the lungs, kidneys, liver, pancreas, skin, eyes, heart. Most hereditary cancers are associated with a “germline mutation” that will be present in every cell of the human body. Identification of patients at risk of inherited cancer susceptibility is dependent upon the ability to characterize genes and alterations associated with increased cancer risk as well as gathering a detailed personal and family history aiding in the identification of the mode of inheritance as well as other family members at risk of suffering from this susceptibility. Most hereditary cancer syndromes follow an autosomal dominant inheritance, and the penetrance is high.
The Igenomix Hereditary Colorectal Cancer Precision Panel provides a comprehensive analysis of the most common hereditary Colorectal Cancer syndromes using next-generation sequencing (NGS) to fully understand the spectrum of relevant colorectal cancer predisposition genes.

Indication

The Igenomix Hereditary Colorectal Cancer Panel is indicated as a screening and diagnostic test in those cases where there is:

Family history of colorectal cancer (CRC) or suspected hereditary colorectal cancer syndrome, such as familial adenomatous polyposis (FAP) or Lynch syndrome (hereditary non-polyposis colon cancer or HNPCC).
Family or personal history of Lynch syndrome or Lynch-like syndrome.
History of multiple colorectal adenomas.
Asymptomatic patient who wishes to know genetic risk for CRC.
A personal history of getting radiation to the abdomen or pelvic area to treat prior cancer.
Personal history of inflammatory bowel disease (Ulcerative Colitis or Crohn’s disease).

Clinical Utility

The clinical utility of this panel is:

The genetic and molecular diagnosis for an accurate clinical diagnosis of a patient with personal or family history suggestive of a hereditary cancer syndrome.
Early initiation of treatment with a multidisciplinary team for appropriate total body screening, early surgical intervention, or pharmacologic treatment.
Risk assessment of asymptomatic family members according to the mode of inheritance
Reduce the incidence of advanced adenomas at colonoscopy.
Prevention of CRC.
Reduce morbidity related to CRC, or morbidity secondary to complications of surveillance and treatment.
Improved identification of hereditary CRC syndromes.
Improved pathways from diagnosis to treatment in susceptible populations.

Genes & Diseases

Methodology

References

See scientific referrals

Lorans M, Dow E, Macrae FA, Winship IM, Buchanan DD. Update on Hereditary Colorectal Cancer: Improving the Clinical Utility of Multigene Panel Testing. Clin Colorectal Cancer. 2018 Jun;17(2):e293-e305. doi: 10.1016/j.clcc.2018.01.001.

Guillén-Ponce C, Lastra E, Lorenzo-Lorenzo I, Martín Gómez T, Morales Chamorro R, Sánchez-Heras AB, Serrano R, Soriano Rodríguez MC, Soto JL, Robles L. SEOM clinical guideline on hereditary colorectal cancer (2019). Clin Transl Oncol. 2020 Feb;22(2):201-212. doi: 10.1007/s12094-019-02272-y.

National Comprehensive Cancer Network. (2021). Retrieved from https://www.nccn.org/professionals/physician_gls/default.aspx#detection

American Cancer Society https://www.cancer.org/cancer/colon-rectal-cancer.html

Brosens, L. A., Offerhaus, G. J., & Giardiello, F. M. (2015). Hereditary Colorectal Cancer: Genetics and Screening. The Surgical clinics of North America, 95(5), 1067–1080. https://doi.org/10.1016/j.suc.2015.05.004

Stoffel, E. M., Mangu, P. B., Gruber, S. B., Hamilton, S. R., Kalady, M. F., Lau, M. W., Lu, K. H., Roach, N., Limburg, P. J., American Society of Clinical Oncology, & European Society of Clinical Oncology (2015). Hereditary colorectal cancer syndromes: American Society of Clinical Oncology Clinical Practice Guideline endorsement of the familial risk-colorectal cancer: European Society for Medical Oncology Clinical Practice Guidelines. Journal of clinical oncology: official journal of the American Society of Clinical Oncology, 33(2), 209–217. https://doi.org/10.1200/JCO.2014.58.1322

Giardiello, F. M., Allen, J. I., Axilbund, J. E., Boland, C. R., Burke, C. A., Burt, R. W., Church, J. M., Dominitz, J. A., Johnson, D. A., Kaltenbach, T., Levin, T. R., Lieberman, D. A., Robertson, D. J., Syngal, S., Rex, D. K., & US Multi-Society Task Force on Colorectal Cancer (2014). Guidelines on genetic evaluation and management of Lynch syndrome: a consensus statement by the US Multi-Society Task Force on colorectal cancer. Gastroenterology, 147(2), 502–526. https://doi.org/10.1053/j.gastro.2014.04.001

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