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

Urska Kotnik,Luca Lovrecic,Borut Peterlin

doi:10.1186/s12885-021-08400-8

Urska Kotnik, Luca Lovrecic + Show 1 more

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https://doi.org/10.1186/s12885-021-08400-8

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Journal: BMC Cancer	Publication Date: Jun 3, 2021
Citations: 1	License type: open-access

Affiliation: Ljubljana University Medical Centre

Abstract

BackgroundAn 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.MethodsPersonal 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.ResultsNCCN 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.ConclusionsWe 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.

Highlights

An important number of breast and ovarian cancer cases is due to a strong genetic predisposition
A pathogenic variant in hereditary breast and ovarian cancer (HBOC) predisposing BRCA1 and BRCA2 genes is present in 3–5% of breast cancer cases and 10% of ovarian cancer cases [5]
Clinical guidelines recommend that women with breast and ovarian cancers are referred to genetic counseling because the identification of a pathogenic variant presents an opportunity for a differential treatment, especially since a new family of drugs, the PARP inhibitors, have recently been approved and they have the greatest efficacy in women who carry a BRCA pathogenic variant [6]

Summary

Introduction

An important number of breast and ovarian cancer cases is due to a strong genetic predisposition. As genetic predisposition represents a frequent etiological factor for the development of breast and gynecological cancers, genetic analysis plays an important role in cancer prevention, counseling about other cancer types, and genetic counseling to other family members. Clinical guidelines recommend that women with breast and ovarian cancers are referred to genetic counseling because the identification of a pathogenic variant presents an opportunity for a differential treatment, especially since a new family of drugs, the PARP inhibitors, have recently been approved and they have the greatest efficacy in women who carry a BRCA pathogenic variant [6]. Studies revealed that referral of women at risk for familial breast and ovarian cancer to a genetic specialist presents a challenge for physicians, many high-risk women are not identified [9, 10]

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