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

Study Overview
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Brief Summary
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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.

Detailed Description
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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.

Official Title
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BRCAsearch: A Population Based Prospective Study on Screening for BRCA1 and BRCA2 Germline Mutations in Patients With Newly Diagnosed Breast Cancer Treated in Southern Sweden.

Conditions
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Hereditary Breast Cancer

Intervention / Treatment
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* Genetic: Germline genetic testing of BRCA1 and BRCA2


Participation Criteria
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Eligibility Criteria
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Inclusion Criteria: The patient is included in the SCAN-B study. The patient is recently diagnosed with an invasive breast cancer or a ductal cancer in situ. The patient has signed an informed consent form. Exclusion Criteria: The patient is unable to understand the written information in Swedish. 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.

Ages Eligible for Study
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Minimum Age: 18 Years

Sexes Eligible for Study
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All

Accepts Healthy Volunteers
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No

Study Plan
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How is the study designed?
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Design Details

Primary Purpose: Diagnostic
Intervention Model: Single Group Assignment
Masking: None (Open Label)


Arms and Interventions

| Participant Group/Arm | Intervention/Treatment |
| --- | --- |
| Experimental: Genetic testing of BRCA1 and BRCA2<br>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. | Genetic: Germline genetic testing of BRCA1 and BRCA2<br> <br> |

What is the study measuring?
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Primary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| Prevalence of BRCA1/2 mutations in an unselected breast cancer cohort in southern Sweden |  | 3 years | 
| Uptake of genetic testing |  | 3 years | 
| Proportion of the mutation carriers that do not fulfil current criteria for genetic testing |  | 3 years | 

Secondary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| How many of the patients that contact us for questions |  | 3 years | 
| How uptake of genetic testing varies with the age at diagnosis | Proportion of patients tested in seperate age groups of 10 years. | 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? | 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. | 4 years | 

 Terms related to the study
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Keywords Provided by Centre Hospitalier Valida
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BRCA1, BRCA2, hereditary breast cancer, genetic counseling