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Current Testing Guidelines: A Retrospective Analysis of a Community-Based Hereditary Cancer Program
It is estimated that 5% to 10% of all cancers are related to a hereditary cancer syndrome. However, specific cancers, such as pancreatic and ovarian cancers, are related to hereditary cancer syndromes 15% to 20% of the time. Genetic testing guidelines for hereditary cancer syndromes are frequently r...
Autores principales: | , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Harborside Press LLC
2021
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8504926/ https://www.ncbi.nlm.nih.gov/pubmed/34671499 http://dx.doi.org/10.6004/jadpro.2021.12.7.3 |
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author | Ward, Margaret Elder, Betty Habtemariam, Maryon |
author_facet | Ward, Margaret Elder, Betty Habtemariam, Maryon |
author_sort | Ward, Margaret |
collection | PubMed |
description | It is estimated that 5% to 10% of all cancers are related to a hereditary cancer syndrome. However, specific cancers, such as pancreatic and ovarian cancers, are related to hereditary cancer syndromes 15% to 20% of the time. Genetic testing guidelines for hereditary cancer syndromes are frequently reviewed and updated by the National Comprehensive Cancer Network (NCCN). The purpose of this retrospective analysis is to identify carriers of pathogenic variants or hereditary cancer syndrome who do not meet NCCN criteria for testing and compare the results with previous studies. The data obtained can be used to provide recommendations to assess current guidelines for testing and evaluate the benefit of comprehensive panel testing vs. standard testing for specific hereditary cancer syndromes. This project is a retrospective review of clinical histories of patients who had multigene panel testing between September 2015 and February 2019 through a cancer outreach and risk assessment (CORA) program. Frequencies analyses were performed to analyze results. A total of 233 individuals were included in the analysis: 171 met BRCA1/2 testing criteria, 66 met Lynch syndrome criteria, and 4 met polyposis criteria. Of the individuals meeting established criteria for testing, 39 were identified with pathogenic variants. However, only 10 of these individuals were identified with a pathogenic variant associated with the criteria for which they met. Genetic testing that is limited to only those patients with genes associated with hereditary cancer syndromes may lead to exclusion of other potentially actionable genes, which may impair a patient's ability to receive additional screening or preventative measures. |
format | Online Article Text |
id | pubmed-8504926 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2021 |
publisher | Harborside Press LLC |
record_format | MEDLINE/PubMed |
spelling | pubmed-85049262021-10-19 Current Testing Guidelines: A Retrospective Analysis of a Community-Based Hereditary Cancer Program Ward, Margaret Elder, Betty Habtemariam, Maryon J Adv Pract Oncol Research & Scholarship It is estimated that 5% to 10% of all cancers are related to a hereditary cancer syndrome. However, specific cancers, such as pancreatic and ovarian cancers, are related to hereditary cancer syndromes 15% to 20% of the time. Genetic testing guidelines for hereditary cancer syndromes are frequently reviewed and updated by the National Comprehensive Cancer Network (NCCN). The purpose of this retrospective analysis is to identify carriers of pathogenic variants or hereditary cancer syndrome who do not meet NCCN criteria for testing and compare the results with previous studies. The data obtained can be used to provide recommendations to assess current guidelines for testing and evaluate the benefit of comprehensive panel testing vs. standard testing for specific hereditary cancer syndromes. This project is a retrospective review of clinical histories of patients who had multigene panel testing between September 2015 and February 2019 through a cancer outreach and risk assessment (CORA) program. Frequencies analyses were performed to analyze results. A total of 233 individuals were included in the analysis: 171 met BRCA1/2 testing criteria, 66 met Lynch syndrome criteria, and 4 met polyposis criteria. Of the individuals meeting established criteria for testing, 39 were identified with pathogenic variants. However, only 10 of these individuals were identified with a pathogenic variant associated with the criteria for which they met. Genetic testing that is limited to only those patients with genes associated with hereditary cancer syndromes may lead to exclusion of other potentially actionable genes, which may impair a patient's ability to receive additional screening or preventative measures. Harborside Press LLC 2021-09 2021-09-01 /pmc/articles/PMC8504926/ /pubmed/34671499 http://dx.doi.org/10.6004/jadpro.2021.12.7.3 Text en © 2021 Harborside™ https://creativecommons.org/licenses/by-nc-nd/3.0/This article is distributed under the terms of the Creative Commons Attribution Non-Commercial Non-Derivative License, which permits unrestricted non-commercial and non-derivative use, distribution, and reproduction in any medium, provided the original work is properly cited. |
spellingShingle | Research & Scholarship Ward, Margaret Elder, Betty Habtemariam, Maryon Current Testing Guidelines: A Retrospective Analysis of a Community-Based Hereditary Cancer Program |
title | Current Testing Guidelines: A Retrospective Analysis of a Community-Based Hereditary Cancer Program |
title_full | Current Testing Guidelines: A Retrospective Analysis of a Community-Based Hereditary Cancer Program |
title_fullStr | Current Testing Guidelines: A Retrospective Analysis of a Community-Based Hereditary Cancer Program |
title_full_unstemmed | Current Testing Guidelines: A Retrospective Analysis of a Community-Based Hereditary Cancer Program |
title_short | Current Testing Guidelines: A Retrospective Analysis of a Community-Based Hereditary Cancer Program |
title_sort | current testing guidelines: a retrospective analysis of a community-based hereditary cancer program |
topic | Research & Scholarship |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8504926/ https://www.ncbi.nlm.nih.gov/pubmed/34671499 http://dx.doi.org/10.6004/jadpro.2021.12.7.3 |
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