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Genomics Precision Diagnostic > Oncology > Oncology Comprehensive Inherited Cancer

Comprehensive Inherited

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 Comprehensive Inherited 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.
Overview
Indication
Clinical Utility
Genes & Diseases
Methodology
References

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 Comprehensive Inherited 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 Comprehensive Inherited Caner Precision Panel is indicated as a screening and diagnostic test in those cases where there are: 

  • 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 

Clinical Utility

The clinical utility of this panel is: 

  • Early and accurate genetic diagnosis allowing the most appropriate clinical management of a patient with personal or family history suggestive of a hereditary cancer syndrome. 
  • Intensified surveillance and participation on early detection programmes for cancer prevention. 
  • Early initiation of treatment or surgical intervention. 
  • Risk assessment of asymptomatic family members according to the mode of inheritance and genetic counselling of relatives. 

Genes & Diseases

Methodology

References

See scientific referrals

LaDuca et al. A clinical guide to hereditary cancer panel testing: evaluation of gene-specific cancer associations and sensitivity of genetic testing criteria in a cohort of 165,000 high-risk patients. Genet Med 22, 407–415 (2020). https://doi.org/10.1038/s41436-019-0633-8  

Breast Cancer Association Consortium, Dorling L, et al. Breast Cancer Risk Genes – Association Analysis in More than 113,000 Women. N Engl J Med. 2021 Jan 20. doi: 10.1056/NEJMoa1913948. Epub ahead of print. PMID: 33471991. 

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  

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  

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  

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

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