Genetic testing in women with early-onset breast cancer: a Traceback pilot study

Annelie Augustinsson,Ulf Kristoffersson,Hans Ehrencrona,Martin P Nilsson,Carolina Ellberg,Håkan Olsson

doi:10.1007/s10549-021-06351-z

Annelie Augustinsson, Ulf Kristoffersson + Show 4 more

Open Access

https://doi.org/10.1007/s10549-021-06351-z

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Abstract

PurposeIn Sweden, a Traceback approach, i.e., a retrospective genetic outreach activity, among cancer patients is not normally used in clinical practice. In this pilot study, we wanted to evaluate a Traceback strategy for possible future clinical implementation and investigate why not all women with early-onset breast cancer underwent genetic testing when they were first diagnosed.MethodsOut of all women (n = 409) diagnosed with breast cancer at ≤ 35 years in Southern Sweden between 2000 and 2017, 63 had not previously been tested. These women were offered an analysis of the genes BRCA1, BRCA2, PALB2, CHEK2, and ATM through a standardized letter. Subsequently, women with normal test results were informed through a letter and carriers of pathogenic variants were contacted through a telephone call and offered in-person genetic counseling. All tested women were asked to complete a follow-up questionnaire regarding previously not having attended genetic counseling and testing and their experiences of the current retrospective approach.ResultsOut of the invited women, 29 (46%) underwent genetic testing and 27 (43%) answered the questionnaire. Pathogenic variants were identified in BRCA1 (n = 2), CHEK2 (n = 1), and ATM (n = 1). The main reason for previously not having undergone genetic testing was not having received any information from their physicians. Most study participants were satisfied with both written pre- and post-test information.ConclusionThe process with retrospective identification, written pre-test information, and genetic testing, followed by in-person counseling for carriers of pathogenic variants only, was well accepted. This has implications for future Traceback implementation programs.

Highlights

Breast cancer is the most common cancer in women, both worldwide and in Sweden, only 1.5% were diagnosed before the age of 35 years in Sweden in 2019 [1]
Of all breast cancer cases, 5–10% have a strong hereditary background and a recent study has estimated the prevalence of pathogenic variants in BRCA1 and BRCA2 among unselected breast cancer patients to be about 4.5% [6]
According to current clinical routine in Sweden [15], genetic testing of the genes BRCA1, BRCA2, TP53, PALB2, CHEK2, and ATM is offered to women with suspected hereditary breast cancer after in-depth genetic counseling

Summary

Introduction

Breast cancer is the most common cancer in women, both worldwide and in Sweden, only 1.5% were diagnosed before the age of 35 years in Sweden in 2019 [1]. Breast cancers in young women are often aggressive and associated with a relatively poor prognosis [2,3,4]. Early-onset breast cancers are more often associated with heredity, and young patients are more likely to harbor a genetic predisposition to breast cancer [5]. Of all breast cancer cases, 5–10% have a strong hereditary background and a recent study has estimated the prevalence of pathogenic variants in BRCA1 and BRCA2 among unselected breast cancer patients to be about 4.5% [6]. The corresponding percentage in patients diagnosed before 35 years is 10–15% [7]. Among women previously diagnosed with breast cancer, the finding

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Conclusion