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

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.

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 Overview

• Status: Completed
• Conditions: Hereditary Breast Cancer
• Intervention / Treatment: Genetic: Germline genetic testing of BRCA1 and BRCA2

Detailed 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):

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
• Enrollment (Actual): 542
• Phase: Not Applicable

Contacts and Locations

Study Locations

• Sweden
  • Helsingborg, Sweden
    • Helsingborg Hospital, Dept of Surgergy
  • Kristianstad, Sweden
    • Kristianstad Central Hospital

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: 18 years and older (Adult, Older Adult)
• Accepts Healthy Volunteers: No
• Genders Eligible for Study: All

Description

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.

Study Plan

How is the study designed?

Design Details

• Primary Purpose: Diagnostic
• Allocation: N/A
• Interventional Model: Single Group Assignment
• Masking: None (Open Label)

Number of Arms

1

Arms and Interventions

Participant Group / Arm	Intervention / Treatment
Experimental: Genetic testing of BRCA1 and BRCA2; 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

What is the study measuring?

Primary Outcome Measures

Outcome Measure	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

Collaborators and Investigators

• Sponsor: Lund University
• Investigators: Principal Investigator: Niklas Loman, MD, PhD, Head of Section for Breast Cancer, Melanoma and CNS tumors. Dept of Oncology, Skane University Hospital, Lund, Sweden

Publications and helpful links

General Publications

• Nilsson MP, Torngren T, Henriksson K, Kristoffersson U, Kvist A, Silfverberg B, Borg A, Loman N. BRCAsearch: written pre-test information and BRCA1/2 germline mutation testing in unselected patients with newly diagnosed breast cancer. Breast Cancer Res Treat. 2018 Feb;168(1):117-126. doi: 10.1007/s10549-017-4584-y. Epub 2017 Nov 21.

Study record dates

Study Major Dates

• Study Start (Actual): February 1, 2015
• Primary Completion (Actual): March 1, 2018
• Study Completion (Actual): March 1, 2018

Study Registration Dates

• First Submitted: June 3, 2015
• First Submitted That Met QC Criteria: September 22, 2015
• First Posted (Estimate): September 23, 2015

Study Record Updates

• Last Update Posted (Actual): February 6, 2019
• Last Update Submitted That Met QC Criteria: February 4, 2019
• Last Verified: February 1, 2019

More Information

Terms related to this study

• Keywords: BRCA2; BRCA1; genetic counseling; hereditary breast cancer
• Additional Relevant MeSH Terms: Skin Diseases; Neoplasms; Neoplasms by Site; Breast Diseases; Breast Neoplasms
• Other Study ID Numbers: Dnr 2009/659

Plan for Individual participant data (IPD)

• Plan to Share Individual Participant Data (IPD)?: NO