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

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

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.

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.