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

Who can join

As published by the study on ClinicalTrials.gov. "Not stated" means the study hasn't said — ask the study team.

Age
25 Years and older
Sex
Female only
Healthy volunteers
Not accepted
Compensation
Not stated

Other requirements are listed under Eligibility below. Only the study team can confirm whether you can join.

What to expect

No one can promise a trial will help you personally — that is what the research is trying to find out.

What participation involves

Not stated in the study description — ask the study team about visits and procedures.

Compensation
Not stated
  • Study-related exams and procedures are typically provided at no cost. This is how many trials work in general — confirm the details for this study with the study team.
  • Participants are monitored closely by the research team throughout the study.
  • Some participants may receive access to an investigational treatment, which is still being studied.
  • Your participation helps researchers learn whether this approach could help future patients.

About this study

In plain language

This study looks at how women respond to genetic tests that help refine their breast cancer risk. It also looks at how they make healthcare choices. It is for women with certain gene changes linked to breast cancer risk who have never had breast cancer.

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.

Compensation is read from the study's own description and may be missing — always confirm with the study team.

Eligibility

Who can join

  • Both phases: Be female and have no history of breast cancer.
  • Both phases: Be able to communicate in English to complete surveys.
  • Phase 1: Be age 25 or older, with a confirmed harmful change in the BRCA1 or BRCA2 gene found through genetic testing.
  • Phase 2: Have genetic testing that confirms one harmful or likely harmful inherited change in a listed gene.
  • Phase 2: Be age 25 or older for BRCA1 or BRCA2, or age 30 or older for ATM, CHEK2, or PALB2.

Who can't join

  • Both phases: Have had surgery to remove a breast to prevent cancer.
  • Phase 1: Have a serious mental illness or trouble with thinking that study staff believe would prevent participation.
  • Phase 1: Be unable to follow study steps, as judged by study staff.
  • Phase 2: Have a serious untreated mental illness or trouble with thinking that would prevent participation.
  • Phase 2: Have taken part in Phase 1 and received genetic risk modifier test results.
  • Phase 2: Have the ATM gene change c.7271T>G (p.Val2424Gly).
  • Phase 2: Have any of these CHEK2 gene changes: c.470T>C (p.Ile157Thr), c.1283C>T (p.Ser428Phe), or c.1427C>T (p.Thr476Met).

Simplified for readability. The official criteria below are what the study team uses.

Official 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.

Study sites (7)

MA

NJ

NY

PA

  • Abramson Cancer Center at University of Pennsylvania Medical Center (Data Collection Only) · Philadelphia, PA 19104-4283Susan Domchek, MD · Study contactMore trials in Philadelphia