Eligibility Criteria and Genetic Testing Results from a High-Risk Cohort for Hereditary Breast and Ovarian Cancer Syndrome in Southeastern Ontario

Abstract

Germline mutations in breast and ovarian cancer are rare, with approximately 5% to 10% and 13% being hereditary in origin, respectively. In 2001, the Ontario Ministry of Health and Long Term Care, in an effort to contain costs, defined criteria to determine an individual's eligibility for BRCA genetic screening. We studied a cohort of individuals that have undergone genetic testing at Kingston General Hospital between 2001 and late 2013. We focused on determining whether the 13 risk criteria, defined by an expert working group for the Ontario Ministry of Health and Long Term Care, have performed according to expectations in this cohort. Our findings show that all of the criteria perform well by identifying carriers at the expected 10% rate defined by the guidelines. We demonstrate that loose application of the risk criteria does not further enrich for BRCA variant carriers. Our assessment of the established risk criteria that have been in use in Ontario for more than a decade, provide evidence for their effectiveness, and offer insights into how they may be expanded or improved.

Retesting of women who are negative for aBRCA1andBRCA2mutation using a 20-gene panel

“…Following the identification of the BRCA1 and BRCA2 genes in 1994 and 1995, respectively, genetic testing for BRCA1 and BRCA2 mutations was introduced in Ontario as part of a provincially funded health service 1 2. The testing was available free of charge to Ontario residents who qualified for testing because they met one of 13 eligibility criteria 1.…”

“…Following the identification of the BRCA1 and BRCA2 genes in 1994 and 1995, respectively, genetic testing for BRCA1 and BRCA2 mutations was introduced in Ontario as part of a provincially funded health service 1 2. The testing was available free of charge to Ontario residents who qualified for testing because they met one of 13 eligibility criteria 1. From 2001 to 2014, testing was limited to two genes; in 2015, with the advent of next-generation sequencing (NGS) and with the identification of new cancer susceptibility genes, the standard test was expanded from a 2-gene panel to a 20-gene panel, which includes PALB2 , CHEK2 , ATM and 15 other genes, in addition to BRCA1 and BRCA2 .…”

Criterios para la identificación de síndromes de cáncer de mama hereditarios. Revisión de la literatura y recomendaciones para el Instituto Nacional de Cancerología - Colombia

“…Otros ocho (8) artículos reportan prevalencias de mutaciones en genes BRCA1 y BRCA2 entre el 6,0% al 10,0% (21)(22)(23)(24)(25)(26)(27)(28). Un porcentaje de portadores del 6,7% (19/282) se reportó en un estudio realizado en Israel en pacientes de alto riesgo en el cual no se especifican los criterios de selección usados (26).…”

Management and Clinical Outcomes of Breast Cancer in Women Diagnosed with Hereditary Cancer Syndromes in a Clinic-Based Sample from Colombia

“…Hereditary breast and ovarian cancer (HBOC) syndrome, caused by PVs in BRCA1 and BRCA2 , has been extensively studied worldwide and is known to be associated with an increased risk of breast and ovarian cancer [ 3 , 7 , 8 , 9 , 10 , 11 , 12 , 13 ]. Nowadays, with the introduction of multigene panel testing, it is recognized that PVs in BRCA genes are responsible for more than half of all hereditary breast cancer syndromes [ 14 , 15 , 16 ].…”