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

Autor: Saundra S. Buys, Brent Hafen, Samantha Greenberg, Alison Fraser, Sandra L. Edwards, Kimberly Herget, Wendy Kohlmann, Whitney Espinel, Amanda Gammon, Carol Sweeney, Camille Roundy
Jazyk: angličtina
Rok vydání: 2019
Předmět:
0301 basic medicine
Adult
Male
Cancer Research
medicine.medical_specialty
Family Cancer History
Genetic counseling
Population
lcsh:RC254-282
Risk Assessment
03 medical and health sciences
0302 clinical medicine
Breast cancer
BRCA1/2
Internal medicine
Utah
medicine
Population Database
Prevalence
cancer registry
Humans
Radiology
Nuclear Medicine and imaging
Family history
education
Original Research
Aged
Ovarian Neoplasms
education.field_of_study
genetic counseling
business.industry
Cancer
Prostatic Neoplasms
Middle Aged
lcsh:Neoplasms. Tumors. Oncology. Including cancer and carcinogens
medicine.disease
Cancer registry
Pancreatic Neoplasms
030104 developmental biology
Oncology
hereditary cancer
030220 oncology & carcinogenesis
Hereditary Breast and Ovarian Cancer Syndrome
epidemiology
Female
business
Cancer Prevention
SEER Program
Zdroj: Cancer Medicine
Cancer Medicine, Vol 8, Iss 15, Pp 6789-6798 (2019)
ISSN: 2045-7634
Popis: 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.
Using diagnostic and family history data, almost 63% of individuals with breast cancer diagnoses meet criteria for genetic testing based on diagnostic and family history. Utilizing the Utah Population Database, a research resource that links of four decades of cancer registry records to genealogies, almost 12% of the unaffected Utah population meets criteria for genetic testing. Given the high proportion of the population, targeting affected cases can maximize family impact while minimizing cost.
Databáze: OpenAIRE
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