ACT-GEN (Adherence And Care Tracking In GENetic Cancer Syndromes)

ACT-GEN (Adherence And Care Tracking In GENetic Cancer Syndromes)

To help people with high-risk cancer variants to follow cancer surveillance guidelines and lower their risk of developing the disease.

Primary Objective

1. The primary objective of this study is to assess feasibility of the intervention by achieving benchmarks, including:

1. Design and development of the iPhone/Android application;
2. Collation of a network of providers with expertise in BRCA1/2 and Lynch Syndrome by state/region for enrolled participants;
3. Enrollment of participants within a 6-month period;
4. Engagement of participants via standardized digital user analytics (number of downloads, active users, monthly active users, conversion rate); and
5. Completion of baseline and interval surveys

Eligibility Criteria

Part 1 inclusion criteria:

1. Female participants.
2. 18 years of age or older;
3. With known deleterious/pathogenic mutation or likely pathogenic/deleterious variant in HBOC genes (BRCA1/2) or Lynch associated genes (MLH1, MSH2, MSH6, PMS2, EPCAM);
4. Speaks and reads English or Spanish; and
5. Has access to a smartphone with operating system compatible with iOS/Android applications.

Part 2 inclusion criteria:

1. Female participants.

2. With known deleterious/pathogenic mutation or likely pathogenic/deleterious variant in HBOC genes (BRCA1/2) or Lynch associated genes (MLH1, MSH2, MSH6, PMS2, EPCAM);

3. Age criteria met by pathogenic variants as listed below:

   1. BRCA1 pathogenic variant or deleterious mutation: ≥ 35 years old
   2. BRCA2 pathogenic variant or deleterious mutation: ≥ 40 years old
   3. MLH1 pathogenic variant or deleterious mutation: ≥ 20 years old
   4. MSH2 pathogenic variant or deleterious mutation: ≥ 20 years old
   5. MSH6 pathogenic variant or deleterious mutation: ≥ 30 years old
   6. PMS2 pathogenic variant or deleterious mutation: ≥ 30 years old
   7. EPCAM pathogenic variant or deleterious mutation: ≥ 20 years old

4. Speaks and reads English or Spanish.

5. Has access to a smartphone with operating system compatible with iOS/Android applications; and

6. Has not previously undergone bilateral salpingo-oophorectomy.

Exclusion Criteria

Part 1 exclusion criteria:

1. Unwilling or unable to provide consent; or
2. Does not have access to a smartphone or is unable to access the application on their phone;

Part 2 exclusion criteria:

1. Unwilling or unable to provide consent;
2. No deleterious or pathogenic variant in HBOC genes (BRCA1/2), or Lynch associated genes (MLH1, MSH2, MSH6, PMS2, or EPCAM);
3. Does not have access to a smartphone or is unable to access the application on their phone.
4. Actively being treated for malignancy with cytotoxic therapy.
5. History of gynecologic or breast malignancy; or
6. Has previously undergone bilateral salpingo-oophorectomy (for BRCA1/2).
7. Participated in Part 1.