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

Abstract

PurposeTo evaluate a simplified method of pre-test information and germline BRCA1/2 mutation testing.MethodsIn 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.ResultsDuring 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.ConclusionsStreamlining 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.

High patient satisfaction with a simplified BRCA1/2 testing procedure: long-term results of a prospective study

“…The study population of BRCAsearch has been described in detail elsewhere [6, 14]. Briefly, patients newly diagnosed with breast cancer were prospectively offered germline BRCA1 and BRCA2 mutation testing, unselected for age at diagnosis or family history of cancer (BRCAsearch, ClinicalTrials.gov Identifier: NCT02557776).…”

“…Among the remaining 805 patients, 539 (67.0%) consented to germline testing. Only 11 out of 539 tested patients contacted us for questions related to genetic counseling [6]. Mutation carriers were telephoned and given a time for a face-to-face post-test genetic counseling appointment within 1 week.…”

“…Simplified methods, such as telephone counseling or written information, are increasingly used instead of standard face-to-face pre-test genetic counseling [1–5]. We have recently reported the results of the prospective BRCAsearch study, where unselected breast cancer patients were offered germline BRCA1 and BRCA2 mutation testing [6]. Instead of pre-test genetic counseling, the patients received a standardized information letter.…”

The New Genomics Era: Integration of genomics into mainstream oncology and implications for psycho‐oncological care

“…Different mainstream models of integrating BRCA testing into the breast cancer pathway have been implemented internationally with great success and high levels of patient and clinician satisfaction . In the United Kingdom, the Mainstreaming Cancer Genetics programme ran from 2013 to 2018 and included testing at diagnosis for young onset (≤45), triple negative, two primary breast cancers ≤60, male breast cancer, or breast cancer plus a first degree relative with breast cancer .…”

“…Different mainstream models of integrating BRCA testing into the breast cancer pathway have been implemented internationally with great success and high levels of patient and clinician satisfaction. [14][15][16][17][18] In the United Kingdom, the Mainstreaming Cancer Genetics programme ran from 2013 to 2018 and included testing at diagnosis for young onset (≤45), triple negative, two primary breast cancers ≤60, male breast cancer, or breast cancer plus a first degree relative with breast cancer. 16 It is predicted that if the United Kingdom adopted the MCG breast cancer mainstream testing guidelines, this would result in 2500 BRCA mutations identified per year and find all BRCA mutations from testing only a third of breast cancer patients most likely to carry a mutation.…”