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

Augustinsson, Annelie LU ; Nilsson, Martin P. LU ; Ellberg, Carolina LU orcid ; Kristoffersson, Ulf LU ; Olsson, Håkan LU orcid and Ehrencrona, Hans LU orcid (2021) In Breast Cancer Research and Treatment 190(2). p.307-315
Abstract

Purpose: In 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. Methods: Out 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... (More)

Purpose: In 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. Methods: Out 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. Results: Out 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. Conclusion: The 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.

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author
; ; ; ; and
organization
publishing date
type
Contribution to journal
publication status
published
subject
keywords
BRCA1, BRCA2, Breast cancer, Early-onset, Genetic testing
in
Breast Cancer Research and Treatment
volume
190
issue
2
pages
307 - 315
publisher
Springer
external identifiers
  • scopus:85114905725
  • pmid:34529195
ISSN
0167-6806
DOI
10.1007/s10549-021-06351-z
project
Hereditary and hormonal risk factors for breast cancer
Varför får inte alla unga kvinnor med bröstcancer genetisk vägledning?
language
English
LU publication?
yes
id
f93d38b4-e7d9-4d09-9eff-6ffa516b5f82
date added to LUP
2021-10-11 14:43:29
date last changed
2025-03-19 12:03:34
@article{f93d38b4-e7d9-4d09-9eff-6ffa516b5f82,
  abstract     = {{<p>Purpose: In 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. Methods: Out 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. Results: Out 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. Conclusion: The 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.</p>}},
  author       = {{Augustinsson, Annelie and Nilsson, Martin P. and Ellberg, Carolina and Kristoffersson, Ulf and Olsson, Håkan and Ehrencrona, Hans}},
  issn         = {{0167-6806}},
  keywords     = {{BRCA1; BRCA2; Breast cancer; Early-onset; Genetic testing}},
  language     = {{eng}},
  number       = {{2}},
  pages        = {{307--315}},
  publisher    = {{Springer}},
  series       = {{Breast Cancer Research and Treatment}},
  title        = {{Genetic testing in women with early-onset breast cancer : a Traceback pilot study}},
  url          = {{http://dx.doi.org/10.1007/s10549-021-06351-z}},
  doi          = {{10.1007/s10549-021-06351-z}},
  volume       = {{190}},
  year         = {{2021}},
}