Overview
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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.
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The Igenomix Susceptibility Cancer Precision Panel provides a comprehensive analysis of the most common hereditary cancer syndromes using next-generation sequencing (NGS) to fully understand the spectrum of relevant cancer predisposition genes.
Indication
The Igenomix Susceptibility Cancer Precision Panel is indicated in those cases where there is:
- Multiple relatives on the same side of the family with the same or related forms of cancer
- Cancer at an early age.
- Early presentation of an aggressive cancer type.
- Multiple primary cancers in an individual
- Asymptomatic patient with no personal or family history who wishes to know genetic susceptibility to cancer
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 and/or early screening.
- Risk assessment of asymptomatic family members according to the mode of inheritance.
References
Canto, M. I., Harinck, F., Hruban, R. H., Offerhaus, G. J., Poley, J. W., Kamel, I., Nio, Y., Schulick, R. S., Bassi, C., Kluijt, I., Levy, M. J., Chak, A., Fockens, P., Goggins, M., Bruno, M., & International Cancer of Pancreas Screening (CAPS) Consortium (2013). International Cancer of the Pancreas Screening (CAPS) Consortium summit on the management of patients with increased risk for familial pancreatic cancer. Gut, 62(3), 339–347. https://doi.org/10.1136/gutjnl-2012-303108
Rahner, N., & Steinke, V. (2008). Hereditary cancer syndromes. Deutsches Arzteblatt international, 105(41), 706–714. https://doi.org/10.3238/arztebl.2008.0706
Syngal, S., Brand, R. E., Church, J. M., Giardiello, F. M., Hampel, H. L., Burt, R. W., & American College of Gastroenterology (2015). ACG clinical guideline: Genetic testing and management of hereditary gastrointestinal cancer syndromes.
The American journal of gastroenterology, 110(2), 223–263. https://doi.org/10.1038/ajg.2014.435
The American journal of gastroenterology, 110(2), 223–263. https://doi.org/10.1038/ajg.2014.435
Li et al. (2020). Points to consider for reporting of germline variation in patients undergoing tumor testing:
a statement of the American College of Medical Genetics and Genomics (ACMG). Genetics In Medicine, 22(7), 1142-1148. doi: 10.1038/s41436-020-0783-8
a statement of the American College of Medical Genetics and Genomics (ACMG). Genetics In Medicine, 22(7), 1142-1148. doi: 10.1038/s41436-020-0783-8
Garber, J. E., & Offit, K. (2005). Hereditary cancer predisposition syndromes.
Journal of clinical oncology : official journal of the American Society of Clinical Oncology, 23(2), 276–292. https://doi.org/10.1200/JCO.2005.10.042
Journal of clinical oncology : official journal of the American Society of Clinical Oncology, 23(2), 276–292. https://doi.org/10.1200/JCO.2005.10.042
National Comprehensive Cancer Network. (2021). Retrieved from https://www.nccn.org/professionals/physician_gls/default.aspx#detection
