Population prevalence of individuals meeting criteria for hereditary breast and ovarian cancer testing

Abstract

Background Personal cancer diagnosis and family cancer history factor into which individuals should undergo genetic testing for hereditary breast and ovarian cancer (HBOC) syndrome. Family history is often determined in the research setting through kindreds with disease clusters, or clinically from self‐report. The population prevalence of individuals with diagnostic characteristics and/or family cancer history meeting criteria for HBOC testing is unknown. Methods Utilizing Surveillance, Epidemiology, and End Results (SEER) cancer registry data and a research resource linking registry records to genealogies, the Utah Population Database, the population‐based prevalence of diagnostic and family history characteristics meeting National Comprehensive Cancer Network (NCCN) criteria for HBOC testing was objectively assessed. Results Among Utah residents with an incident breast cancer diagnosis 2010‐2015 and evaluable for family history, 21.6% met criteria for testing based on diagnostic characteristics, but the proportion increased to 62.9% when family history was evaluated. The proportion of cases meeting testing criteria at diagnosis was 94% for ovarian cancer, 23% for prostate cancer, and 51.1% for pancreatic cancer. Among an unaffected Utah population of approximately 1.7 million evaluable for family history, 197,601 or 11.6% met testing criteria based on family history. Conclusions This study quantifies the population‐based prevalence of HBOC criteria using objectively determined genealogy and cancer incidence data. Sporadic breast cancer likely represents a portion of the high prevalence of family cancer history seen in this study. These results underline the importance of establishing presence of a deleterious mutation in an affected family member, per NCCN guidelines, before testing unaffected relatives.

Interventions Facilitating Family Communication of Genetic Testing Results and Cascade Screening in Hereditary Breast/Ovarian Cancer or Lynch Syndrome: A Systematic Review and Meta-Analysis

“…First- and second-degree relatives and first cousins have 12.5–50% probability of inheriting the respective cancer predisposition. The availability of cancer genetic services (counselling and testing) for “actionable” hereditary cancer syndromes, such as HBOC and LS, is a significant milestone for effective cancer prevention and control [ 12 , 13 ]. When a pathogenic variant is identified, relatives can be tested with 100% accuracy.…”

Implementing Cancer Genomics in State Health Agencies: Mapping Activities to an Implementation Science Outcome Framework

“…State health agencies have used secondary data analysis, existing state-level surveillance systems, and primary data collection for surveillance. Utah and partners linked cancer registry data to genealogic records in the Utah Population Database to develop a population-based estimate of the percentage of Utahns with and without a personal history of BRCA -related cancer who met criteria for HBOC genetic testing [21]. Some state health agencies have tracked genetic services use through hospital chart review by partnering with genetics clinics in the state and analysis of claims data [22].…”

Using a Tailored Digital Health Intervention for Family Communication and Cascade Genetic Testing in Swiss and Korean Families With Hereditary Breast and Ovarian Cancer: Protocol for the DIALOGUE Study

“…The availability of genetic services (counseling and testing) for actionable hereditary cancer syndromes such as HBOC enables population-level cancer prevention [9]. Blood relatives of HBOC cases have a 12.5%-50% probability of inheriting the same pathogenic variant and can be tested with 100% accuracy.…”