Clinical trial NCT02557776: Written Genetic Counseling and Mutation Analysis of BRCA1 and BRCA2 to Patients With Breast Cancer
Official title: 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.
Study type: INTERVENTIONAL
Overall status: COMPLETED
Phase: NA
Conditions: Hereditary Breast Cancer
Keywords: BRCA1
BRCA2
hereditary breast cancer
genetic counseling
Lead sponsor: Lund University
Sponsor class: OTHER
First posted: 2015-09-23
Enrollment: 542
Sex: ALL
Minimum age (years): 18
Standard ages: ADULT
OLDER_ADULT
Accepts healthy volunteers: no
Allocation: NA
Intervention model: SINGLE_GROUP
Primary purpose: DIAGNOSTIC

Brief summary: 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: 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.

Eligibility criteria: 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.

Primary outcomes:
measure: Prevalence of BRCA1/2 mutations in an unselected breast cancer cohort in southern Sweden
timeFrame: 3 years
measure: Uptake of genetic testing
timeFrame: 3 years
measure: Proportion of the mutation carriers that do not fulfil current criteria for genetic testing
timeFrame: 3 years
Secondary outcomes:
measure: How many of the patients that contact us for questions
timeFrame: 3 years
measure: How uptake of genetic testing varies with the age at diagnosis
timeFrame: 3 years
measure: The patients' attitudes towards the method used for identifying mutation carriers
timeFrame: 3 years
measure: Psychosocial comparisons between mutation carriers and non-carriers
timeFrame: 4 years
Other outcomes:
Locations:
city: Helsingborg
country: Sweden
facility: Helsingborg Hospital, Dept of Surgergy
city: Kristianstad
country: Sweden
facility: Kristianstad Central Hospital
Study officials:
affiliation: Head of Section for Breast Cancer, Melanoma and CNS tumors. Dept of Oncology, Skane University Hospital, Lund, Sweden
name: Niklas Loman, MD, PhD
role: PRINCIPAL_INVESTIGATOR
References:
citation: 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.