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BRCAsearch : written pre-test information and BRCA1/2 germline mutation testing in unselected patients with newly diagnosed breast cancer

Nilsson, Martin P. LU ; Törngren, Therese LU ; Henriksson, Karin; Kristoffersson, Ulf LU ; Kvist, Anders LU ; Silfverberg, Barbro; Borg, Åke LU and Loman, Niklas LU (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.

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author
organization
publishing date
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
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
2019-04-23 04:22:53
@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},
  keyword      = {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},
  volume       = {168},
  year         = {2018},
}