Health Care Equity and BRCA1/2 Testing

Although most cancers are sporadic, a significant proportion are related to inherited cancer-causing genes called pathogenic germline variants (PGVs). There are recommended measures for prevention and earlier diagnosis of cancers in patients identified as BRCA1 and BRCA2 PGV carriers, which are the...

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Main Author: Steven Sorscher
Format: Article
Language:English
Published: Mary Ann Liebert 2025-02-01
Series:Health Equity
Subjects:
Online Access:https://www.liebertpub.com/doi/10.1089/heq.2024.0167
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author Steven Sorscher
author_facet Steven Sorscher
author_sort Steven Sorscher
collection DOAJ
description Although most cancers are sporadic, a significant proportion are related to inherited cancer-causing genes called pathogenic germline variants (PGVs). There are recommended measures for prevention and earlier diagnosis of cancers in patients identified as BRCA1 and BRCA2 PGV carriers, which are the most common cancer-predisposing PGVs. For example, published guidelines recommend that patients with BRCA1/2 PGVs undergo bilateral oophorectomies to prevent ovarian cancer and regular magnetic resonance imaging to screen for breast cancer. Also, those same measures are recommended for family members identified by cascade testing as BRCA1/2 carriers. Here, reports of the significant disparities between groups in which patients diagnosed with breast cancer are offered and undergo testing for BRCA1/2 PGVs are reviewed. Expanding the current standard of care guidelines for BRCA1/2 testing to all patients diagnosed with breast cancer and enacting the Cancer Moonshot 2.0 Initiative measures that should mitigate these disparities are discussed as well.
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spelling doaj-art-43f6c46abb90486abab7439d95e9b54e2025-08-20T01:49:55ZengMary Ann LiebertHealth Equity2473-12422025-02-019112713010.1089/heq.2024.0167Health Care Equity and BRCA1/2 TestingSteven Sorscher0Winston-Salem, North Carolina, USA.Although most cancers are sporadic, a significant proportion are related to inherited cancer-causing genes called pathogenic germline variants (PGVs). There are recommended measures for prevention and earlier diagnosis of cancers in patients identified as BRCA1 and BRCA2 PGV carriers, which are the most common cancer-predisposing PGVs. For example, published guidelines recommend that patients with BRCA1/2 PGVs undergo bilateral oophorectomies to prevent ovarian cancer and regular magnetic resonance imaging to screen for breast cancer. Also, those same measures are recommended for family members identified by cascade testing as BRCA1/2 carriers. Here, reports of the significant disparities between groups in which patients diagnosed with breast cancer are offered and undergo testing for BRCA1/2 PGVs are reviewed. Expanding the current standard of care guidelines for BRCA1/2 testing to all patients diagnosed with breast cancer and enacting the Cancer Moonshot 2.0 Initiative measures that should mitigate these disparities are discussed as well.https://www.liebertpub.com/doi/10.1089/heq.2024.0167oncologyBRCA1/2 testinghealth equity
spellingShingle Steven Sorscher
Health Care Equity and BRCA1/2 Testing
Health Equity
oncology
BRCA1/2 testing
health equity
title Health Care Equity and BRCA1/2 Testing
title_full Health Care Equity and BRCA1/2 Testing
title_fullStr Health Care Equity and BRCA1/2 Testing
title_full_unstemmed Health Care Equity and BRCA1/2 Testing
title_short Health Care Equity and BRCA1/2 Testing
title_sort health care equity and brca1 2 testing
topic oncology
BRCA1/2 testing
health equity
url https://www.liebertpub.com/doi/10.1089/heq.2024.0167
work_keys_str_mv AT stevensorscher healthcareequityandbrca12testing