Breast Cancer Research and Treatment (2018) 168:117–126
BRCAsearch: written pre‑test information and BRCA1/2 germline
mutation testing in unselected patients with newly diagnosed breast
Martin P. Nilsson
· Therese Törngren
· Karin Henriksson
· Ulf Kristoersson
· Anders Kvist
· Åke Borg
· Niklas Loman
Received: 2 November 2017 / Accepted: 16 November 2017 / Published online: 21 November 2017
© The Author(s) 2017. This article is an open access publication
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 coun-
seling 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 · Unselected · Genetic testing · Counseling
The identiﬁcation of a germline BRCA1/2 mutation in a
breast cancer patient is associated with potential beneﬁts for
herself as well as for her family members . BRCA status
could inﬂuence treatment decisions regarding local therapy
and systemic therapy, and an oophorectomy performed after
a diagnosis of breast cancer improves both breast cancer-
speciﬁc survival and overall survival for mutation carriers
[2–5]. Currently used selection criteria to merit genetic test-
ing fail to detect up to half of the mutation carriers, and new
methods for triaging patients to testing are needed [6, 7].
Over the last years, the rapid technical evolution and
decreasing costs for genetic analyses have enabled testing
on a much larger scale compared with what was previously
feasible. Among other obstacles, the availability of genetic
counselors is however a problem [7, 8]. Therefore, if genetic
testing should be expanded to a larger number of individuals,
then the counseling process needs to be simpliﬁed.
Recently, two large randomized trials on telephone
genetic counseling for women at a high risk of BRCA
mutations have been published [9, 10]. Telephone genetic
* Martin P. Nilsson
Division of Oncology and Pathology, Department of Clinical
Sciences, Lund University, Lund, Sweden
Department of Hematology, Oncology and Radiation
Physics, Skåne University Hospital, Lund, Sweden
Department of Clinical Genetics, Laboratory Medicine
Region Skåne, Lund, Sweden
Department of Clinical Genetics, Lund University, Lund,