Written Genetic Counseling and Mutation Analysis of BRCA1 and BRCA2 to Patients With Breast Cancer
Written Genetic Counseling and Mutation Analysis of BRCA1 and BRCA2 to Patients With Breast Cancer
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.
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):

 1. 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.

 2. BRCA1 and BRCA2 are analyzed by full sequencing.

 3. 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.

 4. 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.
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.