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Recruiting NCT03396341

Responses to Genetic Risk Modifier Testing Among Women With Pathogenic Variants in Breast Cancer Predisposition Genes

— Observational Genetic Testing BRCA1/2

For patients and families

In plain language

An automatic summary of structured registry data. It is an orientation aid, not a substitute for the official protocol or a physician assessment.

What is being studied
The protocol lists: Salvia sample, Questionnaires, Buccal swab sample.
Who it may be relevant to
Registry conditions: Genetic Testing, BRCA1/2. Basic parameters: from 25 years · Female.
What needs checking
Age, condition and sex are only basic indicators. Prior treatment, laboratory values and other mandatory requirements appear in the eligibility criteria below.
Where it takes place
United States
Next step
Save the trial, show it to the treating physician, and confirm current recruitment with the study center. Costs, documents and travel →

Unsure about the terms? Read our patient guide →

Overview

The purpose of this study is to describe how women with BRCA1/2 mutations react to genetic risk modifier testing, and to examine how they make decisions about their healthcare.

Interventions

  • Other Salvia sample
    salvia sample
  • Behavioral Questionnaires
    Participants will complete Assessment #1 questionnaires. Participants will be contacted 1 week later (+/- 1 week) to complete Assessment #2 questionnaires. Participants will be contacted 6 months (+/- 3 weeks) following the receipt of their genetic risk modifier results to complete Assessment #3 questionnaires. Participants will be encouraged to complete Assessments #2 and #3 via email using the secure, approved REDCap system
  • Other Buccal swab sample
    Buccal swab sample

Primary outcome measures

  • Number of participants that opt for preventive mastectomy or to pursue surveillance [Time frame: 3 years]

Eligibility criteria

Inclusion criteria

Phase I:

  • Female patient, age 25 years or older (given that women under this age are not generally recommended to receive BRCA1/2 genetic testing)
  • Completed full sequence or targeted genetic testing with a clinically confirmed BRCA1 or BRCA2 deleterious mutation identified
  • No personal history of breast cancer
  • English-fluent; the surveys were designed and validated in English and are not currently available in other languages. Translation of questionnaires into other languages would require reestablishing the reliability and validity of these measures. Therefore, participants must be able to communicate in English to complete the surveys.

Phase 2:

  • Female sex
  • Completed germline genetic testing with one clinically confirmed pathogenic/likely pathogenic variant in either of the following genes and with the associated age minimums:
  • BRCA1 and currently age 25 years or older
  • BRCA2 and currently age 25 years or older
  • ATM (all pathogenic/likely pathogenic variants EXCEPT for the variant ATM c.7271T>G \[p.Val2424Gly\]) and currently age 30 years or older
  • CHEK2 (all pathogenic/likely pathogenic variants EXCEPT for the variants CHEK2 c.470T>C \[p.Ile157Thr ; I157T\] and CHEK2 c.1283C>T\[p.Ser428Phe ; p.S428F\] and CHEK2 c.1427C>T \[p.Thr476Met\]) and currently age 30 years or older
  • PALB2 and currently age 30 years or older
  • No personal history of breast cancer
  • English-fluent based on self-report or the EMR; the surveys were designed and validated in English and are not currently available in other languages. Translation of questionnaires into other languages would require reestablishing the reliability and validity of these measures. Therefore, participants must be able to communicate in English to complete the surveys.

Exclusion criteria

Phase I:

  • Previous receipt of any prophylactic mastectomy.
  • Major psychiatric illness or cognitive impairment that in the judgment of the study investigators or study staff would preclude study participation.
  • Any patients who are unable to comply with the study procedures as determined by the study investigators or study staff.

Phase 2:

  • Previous receipt of any prophylactic mastectomy.
  • Major untreated psychiatric illness or cognitive impairment that would preclude study participation.
  • Any patients who participated and received genetic risk modifier test results from Phase 1 of this protocol.

Criteria are shown verbatim from the registry (in English). Final eligibility is always assessed by the study center.

Healthy volunteers: No

Study design

Observational model
Cohort

Study locations

United States · 7 centers
  • Dana Farber Cancer Institute (Data Collection Only) — Boston
  • Memorial Sloan-Kettering at Basking Ridge — Basking Ridge
  • Memorial Sloan Kettering Commack — Commack
  • Memorial Sloan Kettering Westchester — Harrison
  • Memorial Sloan Kettering Cancer Center — New York
  • Memorial Sloan Kettering Nassau — Uniondale
  • Abramson Cancer Center at University of Pennsylvania Medical Center (Data Collection Only) — Philadelphia

Identifiers

NCT: NCT03396341 · 17-489

Primary sources (government registries)

View this study on ClinicalTrials.gov ↗