Written Genetic Counseling and Mutation Analysis of BRCA1 and BRCA2 to Patients With Breast Cancer (BRCAsearch)

Lund University

Status: Completed

Conditions: Hereditary Breast Cancer

Treatments: Genetic: Germline genetic testing of BRCA1 and BRCA2

Study type: Interventional

Funder types: Other

Identifiers

NCT02557776

Dnr 2009/659

Details and patient eligibility

About

The overall purpose of the study is to evaluate a method for offering mutation analysis of BRCA1 and BRCA2 to all patients with newly diagnosed breast cancer, regardless of age at diagnosis and family history. Information about the study as well as pre-test genetic counseling will primarily be given in a written way. In addition to that, if a study participant wishes to, she can also receive pre-test telephone genetic counseling.

Full description

Study population:

All patients with newly diagnosed breast cancer in southern Sweden are offered inclusion in the SCAN-B study at the time of diagnosis pre-surgery. If they consent to that, a part of the tumor is sent to a lab in Lund, Sweden, for research purposes (RNA sequencing etc.). Patients that are included in the SCAN-B study are eligible for inclusion in BRCAsearch, see inclusion and exclusion criteria.

Study procedure (summary):

An envelope with written information is given to the patient at the visit to the surgeon the week after surgery. This envelope contains a written genetic counseling, information about the study, an informed consent form, psychosocial questionnaires and our contact information (telephone, e-mail). The patient can contact a genetic counselor for pre-test telephone genetic counseling if she wishes to. BRCA1 and BRCA2 are analyzed by full sequencing. Non-carriers are informed about the test result with a letter. Mutation carriers and VUS (variants of uncertain significance) are telephoned and given a time for an appointment at the Department of Clinical Genetics within a week. Psychosocial self-reported questionnaires (HAD scale, EORTC QLQ-C30, EORTC QLQ-BR23) are delivered at 3 times: At invitation to the study, one month after information about test result, and one year after information about test result.

Enrollment: 542 patients

Sex: All

Ages: 18+ years old

Volunteers: No Healthy Volunteers

Inclusion criteria

1. The patient is included in the SCAN-B study.
2. The patient is recently diagnosed with an invasive breast cancer or a ductal cancer in situ.
3. The patient has signed an informed consent form.

Exclusion criteria

1. The patient is unable to understand the written information in Swedish.
2. The patient's psychological state, due to chronic och temporary reasons, is such that one could suspect that information about the study or genetic testing could be substantially detrimental to the psychological well-beeing.

Trial design

Primary purpose: Diagnostic

Allocation: N/A

Interventional model: Single Group Assignment

Masking: None (Open label)

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542 participants in 1 patient group

Genetic testing of BRCA1 and BRCA2

Experimental group

Description:

For detailes, please see "Study procedure". Women with newely diagnosed breast cancer are offered written genetic counseling and screening of mutations in BRCA1 and BRCA2.

Treatment:

Genetic: Germline genetic testing of BRCA1 and BRCA2