Identification of women at risk for hereditary breast and ovarian cancer in a sample of 1000 Slovenian women: a comparison of guidelines

• Published in: BMC cancer Vol. 21; no. 1; pp. 1 - 665
• Main Authors: Kotnik, Urska, Peterlin, Borut, Lovrecic, Luca
• Format: Journal Article
• Language: English
• Published: London BioMed Central Ltd 03.06.2021; BioMed Central; BMC
• Subjects: BRCA; Breast cancer; Clinical guidelines; Family history; Family medical history; Genetic aspects; Genetic counseling; Ovarian cancer; Practice guidelines (Medicine); Referral criteria; Risk factors; Statistics; Womens health; Slovenia
• ISSN: 1471-2407; 1471-2407
• DOI: 10.1186/s12885-021-08400-8

Background An important number of breast and ovarian cancer cases is due to a strong genetic predisposition. The main tool for identifying individuals at risk is recognizing a suggestive family history of cancer. We present a prospective study on applying three selected clinical guidelines to a cohort of 1000 Slovenian women to determine the prevalence of at-risk women according to each of the guidelines and analyze the differences amongst the guidelines. Methods Personal and family history of cancer was collected for 1000 Slovenian women. Guidelines by three organizations: National Comprehensive Cancer Network (NCCN), American College of Medical Genetics in cooperation with National Society of Genetic Counselors (ACMG/NSGC), and Society of Gynecologic Oncology (SGO) were applied to the cohort. The number of women identified, the characteristics of the high-risk population, and the agreement between the guidelines were explored. Results NCCN guidelines identify 13.2% of women, ACMG/NSGC guidelines identify 7.1% of women, and SGO guidelines identify 7.0% of women from the Slovenian population, while 6.2% of women are identified by all three guidelines as having high-risk for hereditary breast and ovarian cancer. Conclusions We identified 13.7% of women from the Slovenian population as being at an increased risk for breast and ovarian cancer based on their personal and family history of cancer using all of the guidelines. There are important differences between the guidelines. NCCN guidelines are the most inclusive, identifying nearly twice the amount of women as high-risk for hereditary breast and ovarian cancer as compared to the AGMG/NSCG and SGO guidelines in the Slovenian population. Keywords: BRCA, Breast cancer, Referral criteria, Clinical guidelines, Family history