Retrospective genetic testing (Traceback) in women with early-onset breast cancer after revised national guidelines : a clinical implementation study
Augustinsson, Annelie LU ; Loman, Niklas LU and Ehrencrona, Hans LU
(2024)
In Breast Cancer Research and Treatment
- Abstract
Purpose: This study focused on identifying a hereditary predisposition in women previously diagnosed with early-onset breast cancer through a retrospective outreach activity (Traceback). The objectives were to evaluate the possible clinical implementation of a simplified Traceback strategy and to identify carriers of pathogenic variants among previously untested women. Methods: Three hundred and fifteen Traceback-eligible women diagnosed with breast cancer at 36–40 years in Southern Sweden between 2000 and 2019 were identified and offered an analysis of the genes ATM, BARD1, BRCA1, BRCA2, CHEK2, PALB2, RAD51C, and RAD51D through a standardized letter. Women who chose to participate were asked about their experiences through a... (More)
Purpose: This study focused on identifying a hereditary predisposition in women previously diagnosed with early-onset breast cancer through a retrospective outreach activity (Traceback). The objectives were to evaluate the possible clinical implementation of a simplified Traceback strategy and to identify carriers of pathogenic variants among previously untested women. Methods: Three hundred and fifteen Traceback-eligible women diagnosed with breast cancer at 36–40 years in Southern Sweden between 2000 and 2019 were identified and offered an analysis of the genes ATM, BARD1, BRCA1, BRCA2, CHEK2, PALB2, RAD51C, and RAD51D through a standardized letter. Women who chose to participate were asked about their experiences through a questionnaire. The workload for the study personnel was measured and recorded. Results: One hundred and seventy-six women underwent genetic testing and pathogenic variants were identified in 9.7%: ATM (n = 6), BARD1 (n = 1), BRCA1 (n = 3), CHEK2 (n = 5), and PALB2 (n = 2). Women with normal test results were informed through a standardized letter. Carriers of pathogenic variants were contacted by telephone and offered in-person genetic counseling. One hundred and thirty-four women returned the subsequent questionnaire. Most study participants were satisfied with both written pre- and post-test information and many expressed their gratitude. The extra workload as compared to routine clinical genetic counseling was modest (8 min per patient). Conclusion: The insights from the participants’ perspectives and sentiments throughout the process support the notion that the Traceback procedure is a safe and an appreciated complement to routine genetic counseling. The genetic yield of almost 10% also suggests that the associated extra workload for genetic counselors could be viewed as acceptable in clinical implementation scenarios.
(Less)
- author
- Augustinsson, Annelie
LU
; Loman, Niklas
LU
and Ehrencrona, Hans
LU
- organization
- publishing date
- 2024
- type
- Contribution to journal
- publication status
- epub
- subject
- keywords
- BRCA1, BRCA2, Breast cancer, Early onset, Genetic testing, Traceback
- in
- Breast Cancer Research and Treatment
- publisher
- Springer
- external identifiers
-
- pmid:38491334
- scopus:85187943781
- ISSN
- 0167-6806
- DOI
- 10.1007/s10549-024-07288-9
- language
- English
- LU publication?
- yes
- id
- 44f98a14-e0c5-41f5-a2d3-82b452770198
- date added to LUP
- 2024-04-08 09:56:24
- date last changed
- 2024-04-22 12:33:53
@article{44f98a14-e0c5-41f5-a2d3-82b452770198,
abstract = {{<p>Purpose: This study focused on identifying a hereditary predisposition in women previously diagnosed with early-onset breast cancer through a retrospective outreach activity (Traceback). The objectives were to evaluate the possible clinical implementation of a simplified Traceback strategy and to identify carriers of pathogenic variants among previously untested women. Methods: Three hundred and fifteen Traceback-eligible women diagnosed with breast cancer at 36–40 years in Southern Sweden between 2000 and 2019 were identified and offered an analysis of the genes ATM, BARD1, BRCA1, BRCA2, CHEK2, PALB2, RAD51C, and RAD51D through a standardized letter. Women who chose to participate were asked about their experiences through a questionnaire. The workload for the study personnel was measured and recorded. Results: One hundred and seventy-six women underwent genetic testing and pathogenic variants were identified in 9.7%: ATM (n = 6), BARD1 (n = 1), BRCA1 (n = 3), CHEK2 (n = 5), and PALB2 (n = 2). Women with normal test results were informed through a standardized letter. Carriers of pathogenic variants were contacted by telephone and offered in-person genetic counseling. One hundred and thirty-four women returned the subsequent questionnaire. Most study participants were satisfied with both written pre- and post-test information and many expressed their gratitude. The extra workload as compared to routine clinical genetic counseling was modest (8 min per patient). Conclusion: The insights from the participants’ perspectives and sentiments throughout the process support the notion that the Traceback procedure is a safe and an appreciated complement to routine genetic counseling. The genetic yield of almost 10% also suggests that the associated extra workload for genetic counselors could be viewed as acceptable in clinical implementation scenarios.</p>}},
author = {{Augustinsson, Annelie and Loman, Niklas and Ehrencrona, Hans}},
issn = {{0167-6806}},
keywords = {{BRCA1; BRCA2; Breast cancer; Early onset; Genetic testing; Traceback}},
language = {{eng}},
publisher = {{Springer}},
series = {{Breast Cancer Research and Treatment}},
title = {{Retrospective genetic testing (Traceback) in women with early-onset breast cancer after revised national guidelines : a clinical implementation study}},
url = {{http://dx.doi.org/10.1007/s10549-024-07288-9}},
doi = {{10.1007/s10549-024-07288-9}},
year = {{2024}},
}