Abstract OT2-05-01: 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
Authors: Nilsson MP , Borg Å , Henriksson K , Kristoffersson U , Kvist A , Silfverberg B , Törngren T , Loman N 
Published: May 2016

The overall purpose of the study BRCAsearch is to evaluate a new method for offering mutation analysis of BRCA1 and BRCA2 to all patients with newly diagnosed breast cancer.

Patients with breast cancer in southern Sweden are offered inclusion in the SCAN-B study at the time of diagnosis pre-surgery. If they consent, 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.

Summary of study procedure for BRCAsearch:

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 contact information to a genetic counsellor and psycisians responsible for the study (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.

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.

4.Psychosocial self-reported questionnaires are delivered at 3 times over a year.

Inclusion criteria (all):

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 for BRCAsearch.

Exclusion criteria (any of):

1.The patient is unable to understand the written information in Swedish.

2.The patient is a psychological state, due to chronic och temporary reasons, where one could suspect that information about the study substantially could be detrimental to the psychological well-beeing.

Primary outcome measures:

• Prevalence of BRCA1/2 mutations in an unselected breast cancer cohort in southern Sweden

• Uptake of genetic testing

• Proportion of the mutation carriers that do not fulfil current criteria for genetic testing

Secondary outcome measures:

• How many of the patients that contact us for questions and what type of questions they have

• How uptake of genetic testing varies with patient, treatment, and tumor characteristics

• The patients' attitudes towards the method used for identifying mutation carriers

• The economic cost per QALY (quality-adjusted life year)

• Psychosocial comparisons between mutation carriers and non-carriers

Targeted accrual is 500 patients included in the study, which is expected to be reached by the end of 2016.

The study enrolls patients from two hospitals in southern Sweden:

1.Helsingborg Hospital (study start: Febuary 2, 2015)

2.Kristianstad Hospital (study start: March 2, 2015).

Citation Format: Nilsson MP, Borg Å, Henriksson K, Kristoffersson U, Kvist A, Silfverberg B, Törngren T, Loman N. 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. [abstract]. In: Proceedings of the Thirty-Eighth Annual CTRC-AACR San Antonio Breast Cancer Symposium: 2015 Dec 8-12; San Antonio, TX. Philadelphia (PA): AACR; Cancer Res 2016;76(4 Suppl):Abstract nr OT2-05-01.