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

BRCAsearch: written pre-test information and BRCA1/2 germline mutation testing in unselected patients with newly diagnosed breast cancer.
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Nilsson MP, Törngren T, Henriksson K, Kristoffersson U, Kvist A, Silfverberg B, Borg Å, Loman N,


Nilsson MP, Törngren T, Henriksson K, Kristoffersson U, Kvist A, Silfverberg B, Borg Å, Loman N, (click to view)

Nilsson MP, Törngren T, Henriksson K, Kristoffersson U, Kvist A, Silfverberg B, Borg Å, Loman N,

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Breast cancer research and treatment 2017 11 21() doi 10.1007/s10549-017-4584-y
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.

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