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.
Study Type
INTERVENTIONAL
Allocation
NA
Purpose
DIAGNOSTIC
Masking
NONE
Enrollment
542
Helsingborg Hospital, Dept of Surgergy
Helsingborg, Sweden
Kristianstad Central Hospital
Kristianstad, Sweden
Prevalence of BRCA1/2 mutations in an unselected breast cancer cohort in southern Sweden
Time frame: 3 years
Uptake of genetic testing
Time frame: 3 years
Proportion of the mutation carriers that do not fulfil current criteria for genetic testing
Time frame: 3 years
How many of the patients that contact us for questions
Time frame: 3 years
How uptake of genetic testing varies with the age at diagnosis
Proportion of patients tested in seperate age groups of 10 years.
Time frame: 3 years
The patients' attitudes towards the method used for identifying mutation carriers
A questionnaire with 7 general questions (answers graded 1 to 4, where 1 = not at all, and 4 = to a high extent) will be sent the participants one year after the test results were delivered. The questions are in Swedish; translated to English, examples of questions are: "are you content with the method used in the study for informtion?", "would yout have liked to have more oral information?", "are you content with having gone through genetic testing?", "would you recommend a friend of you with breast cancer to pursue genetic testing in the way that you have done?"
Time frame: 3 years
Psychosocial comparisons between mutation carriers and non-carriers
Matched comparisons between mutation carriers and non-carriers for psychosocial endpoints will be done in a nested case-control study, where two controls are selected for each mutation carrier on the basis of age, adjuvant chemotherapy, stage and ER status.
Time frame: 4 years
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