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

Trial statusRecruiting
Trial phaseNot listed
Trial typeObservational
Biological sexFemale
Age25+
SponsorMemorial Sloan Kettering Cancer Center

About this trial

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.

Eligibility criteria

Qualifiers

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.

Disqualifiers

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.

Previous receipt of any prophylactic mastectomy.

Trial design

Treatments tested in this trial

  • Salvia sample
  • Questionnaires
  • Buccal swab sample

Treatment groups

806 Participants
are divided into 2 treatment groups

Sponsors and collaborators