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. 2022 Apr;192(2):375-383.
doi: 10.1007/s10549-021-06445-8. Epub 2022 Jan 7.

Feasibility of personalized screening and prevention recommendations in the general population through breast cancer risk assessment: results from a dedicated risk clinic

Mahasti Saghatchian  1   2 , Marc Abehsera  3 , Amina Yamgnane  3 , Caroline Geyl  3 , Emilien Gauthier  4 , Valérie Hélin  4 , Matéo Bazire  5 , Laure Villoing-Gaudé  5 , Cécile Reyes  5 , David Gentien  5 , Lisa Golmard  6 , Dominique Stoppa-Lyonnet  5   6
Affiliations

Feasibility of personalized screening and prevention recommendations in the general population through breast cancer risk assessment: results from a dedicated risk clinic

Mahasti Saghatchian et al. Breast Cancer Res Treat. 2022 Apr.

Abstract

Purpose: A personalized approach to prevention and early detection based on known risk factors should contribute to early diagnosis and treatment of breast cancer. We initiated a risk assessment clinic for all women wishing to undergo an individual breast cancer risk assessment.

Methods: Women underwent a complete breast cancer assessment including a questionnaire, mammogram with evaluation of breast density, collection of saliva sample, consultation with a radiologist, and a breast cancer specialist. Women aged 40 or older, with 0 or 1 first-degree relative with breast cancer diagnosed after the age of 40 were eligible for risk assessment using MammoRisk, a machine learning-based tool that provides an individual 5-year estimated risk of developing breast cancer based on the patient's clinical data and breast density, with or without polygenic risk scores (PRSs). DNA was extracted from saliva samples for genotyping of 76 single-nucleotide polymorphisms. The individual risk was communicated to the patient, with individualized screening and prevention recommendations.

Results: A total of 290 women underwent breast cancer assessment, among which 196 women (68%) were eligible for risk assessment using MammoRisk (median age 52, range 40-72). When PRS was added to MammoRisk, 40% (n = 78) of patients were assigned a different risk category, with 28% (n = 55) of patients changing from intermediate to moderate or high risk.

Conclusion: Individual risk assessment is feasible in the general population. Screening recommendations could be given based on individual risk. The use of PRS changed the risk score and screening recommendations in 40% of women.

Keywords: Breast cancer; Mammographic density; Polygenic risk score; Risk assessment; Screening.

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Conflict of interest statement

Mahasti Saghatchian has received speaker honorarium from Predilife, the company commercializing MammoRisk. Other authors have no conflict of interest to declare that are relevant to the content of this article.

Figures

Fig. 1
Fig. 1
Risk assessment flowchart. LCIS lobular carcinoma in situ
Fig. 2
Fig. 2
Proportions of patients assigned to risk categories using MammoRisk with and without PRS (%)
Fig. 3
Fig. 3
Distribution of risk scores with and without PRS
Fig. 4
Fig. 4
PRS and risk scores according to family history of breast cancer
Fig. 5
Fig. 5
PRS and risk scores according to breast density
See this image and copyright information in PMC

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