BRCAsearch : written pre-test information and BRCA1/2 germline mutation testing in unselected patients with newly diagnosed breast cancer
(2018) In Breast Cancer Research and Treatment 168(1). p.117-126- Abstract
Purpose: To evaluate a simplified method of pre-test information and germline BRCA1/2 mutation testing. Methods: In a prospective, single-arm study, comprehensive BRCA1/2 testing was offered to unselected patients with newly diagnosed breast cancer at three hospitals in south Sweden (BRCAsearch, ClinicalTrials.gov Identifier: NCT02557776). Pre-test information was provided by a standardized invitation letter, but the patients could contact a genetic counselor for telephone genetic counseling if they felt a need for that. Noncarriers were informed about the test result through a letter. Mutation carriers were contacted and offered an appointment for in-person post-test genetic counseling. Results: During the period Feb 2, 2015–Aug 26,... (More)
Purpose: To evaluate a simplified method of pre-test information and germline BRCA1/2 mutation testing. Methods: In a prospective, single-arm study, comprehensive BRCA1/2 testing was offered to unselected patients with newly diagnosed breast cancer at three hospitals in south Sweden (BRCAsearch, ClinicalTrials.gov Identifier: NCT02557776). Pre-test information was provided by a standardized invitation letter, but the patients could contact a genetic counselor for telephone genetic counseling if they felt a need for that. Noncarriers were informed about the test result through a letter. Mutation carriers were contacted and offered an appointment for in-person post-test genetic counseling. Results: During the period Feb 2, 2015–Aug 26, 2016, eight hundred and eighteen patients were invited to participate in the study. Through Jan 31, 2017, five hundred and forty-two (66.2%) of them consented to analysis of BRCA1 and BRCA2. Eleven pathogenic mutations were found (BRCA1, n = 2; BRCA2, n = 9), corresponding to a mutation prevalence of 2.0%. Six out of 11 fulfilled the Swedish BRCA testing criteria, and 9 out of 11 fulfilled the NCCN testing criteria. None of the BRCA-associated tumors were of the luminal A-like subtype. Very few patients contacted us for telephone genetic counseling or practical questions, suggesting that a majority felt that the written pre-test information was sufficient for them to make a decision on testing. Conclusions: Streamlining the process of pre-test information, genetic testing, and delivery of test results was feasible and was associated with an uptake of genetic testing in 2/3 of the breast cancer patients.
(Less)
- author
- Nilsson, Martin P. LU ; Törngren, Therese LU ; Henriksson, Karin ; Kristoffersson, Ulf LU ; Kvist, Anders LU ; Silfverberg, Barbro ; Borg, Åke LU and Loman, Niklas LU
- organization
- publishing date
- 2018
- type
- Contribution to journal
- publication status
- published
- subject
- keywords
- Breast cancer, Counseling, Genetic testing, Unselected
- in
- Breast Cancer Research and Treatment
- volume
- 168
- issue
- 1
- pages
- 117 - 126
- publisher
- Springer
- external identifiers
-
- scopus:85034635451
- pmid:29164420
- ISSN
- 0167-6806
- DOI
- 10.1007/s10549-017-4584-y
- language
- English
- LU publication?
- yes
- id
- b0dd591e-87a9-48b4-9e2c-a3a8fc4086f4
- date added to LUP
- 2017-12-14 12:54:32
- date last changed
- 2024-04-15 00:21:56
@article{b0dd591e-87a9-48b4-9e2c-a3a8fc4086f4,
abstract = {{<p>Purpose: To evaluate a simplified method of pre-test information and germline BRCA1/2 mutation testing. Methods: In a prospective, single-arm study, comprehensive BRCA1/2 testing was offered to unselected patients with newly diagnosed breast cancer at three hospitals in south Sweden (BRCAsearch, ClinicalTrials.gov Identifier: NCT02557776). Pre-test information was provided by a standardized invitation letter, but the patients could contact a genetic counselor for telephone genetic counseling if they felt a need for that. Noncarriers were informed about the test result through a letter. Mutation carriers were contacted and offered an appointment for in-person post-test genetic counseling. Results: During the period Feb 2, 2015–Aug 26, 2016, eight hundred and eighteen patients were invited to participate in the study. Through Jan 31, 2017, five hundred and forty-two (66.2%) of them consented to analysis of BRCA1 and BRCA2. Eleven pathogenic mutations were found (BRCA1, n = 2; BRCA2, n = 9), corresponding to a mutation prevalence of 2.0%. Six out of 11 fulfilled the Swedish BRCA testing criteria, and 9 out of 11 fulfilled the NCCN testing criteria. None of the BRCA-associated tumors were of the luminal A-like subtype. Very few patients contacted us for telephone genetic counseling or practical questions, suggesting that a majority felt that the written pre-test information was sufficient for them to make a decision on testing. Conclusions: Streamlining the process of pre-test information, genetic testing, and delivery of test results was feasible and was associated with an uptake of genetic testing in 2/3 of the breast cancer patients.</p>}},
author = {{Nilsson, Martin P. and Törngren, Therese and Henriksson, Karin and Kristoffersson, Ulf and Kvist, Anders and Silfverberg, Barbro and Borg, Åke and Loman, Niklas}},
issn = {{0167-6806}},
keywords = {{Breast cancer; Counseling; Genetic testing; Unselected}},
language = {{eng}},
number = {{1}},
pages = {{117--126}},
publisher = {{Springer}},
series = {{Breast Cancer Research and Treatment}},
title = {{BRCAsearch : written pre-test information and BRCA1/2 germline mutation testing in unselected patients with newly diagnosed breast cancer}},
url = {{http://dx.doi.org/10.1007/s10549-017-4584-y}},
doi = {{10.1007/s10549-017-4584-y}},
volume = {{168}},
year = {{2018}},
}