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Clinical Trial
. 2018 Feb;168(1):117-126.
doi: 10.1007/s10549-017-4584-y. Epub 2017 Nov 21.

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

Martin P Nilsson  1   2 , Therese Törngren  3 , Karin Henriksson  4 , Ulf Kristoffersson  4   5 , Anders Kvist  3 , Barbro Silfverberg  4 , Åke Borg  3 , Niklas Loman  3   6
Affiliations
Clinical Trial

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

Martin P Nilsson et al. Breast Cancer Res Treat. 2018 Feb.

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, 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.

Keywords: Breast cancer; Counseling; Genetic testing; Unselected.

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Conflict of interest statement

Conflict of interest

The authors declare that they have no conflict of interest.

Ethical approval

The study was approved by the Regional Ethical Review Board in Lund (Dnr 2009/659, Dnr 2014/681) and complies with the current laws of Sweden. The study has been performed in accordance with the 1964 Helsinki Declaration and its later amendments or comparable ethical standards. Informed consent was obtained from all individual participants included in the study.

Figures

Fig. 1
Fig. 1
Flowchart of patient inclusion for BRCAsearch and genetic analyses
See this image and copyright information in PMC

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