Prospective Cohort Study of Germline Variant Carriers with BRCA1 or BRCA2

Recruiting

• Conditions: BRCA1 And/or BRCA2 Variant Carriers; Fallopian Tube Carcinoma; Ovarian Carcinoma; Peritoneal Carcinoma

• Registration Number: NCT03296826
• Lead Sponsor: Translational Research Center for Medical Innovation, Kobe, Hyogo, Japan

Brief Summary

To determine the incidence and risk factors in the development of ovarian, fallopian tube, and peritoneal cancers in Japanese women carrying Breast Cancer Susceptibility Gene (BRCA)1/2 variants.

Detailed Description

1. To estimate the incidence of ovarian, fallopian tube and peritoneal cancers in women carrying BRCA1/2 variants.

2. To investigate risk factors concerning the development of ovarian, fallopian tube, and peritoneal cancers (loci of BRCA1/2 genetic variants, modifier genes, genetic polymorphism, hormones, and lifestyle habits.) in women carrying BRCA1/2 variants.

3. To estimate the detection rates of occult cancer based on histopathological evaluations, using risk-reducing salpingo-oophorectomy (RRSO).

4. To examine the risk-reducing effect of RRSO on the development of ovarian, fallopian tube, and peritoneal cancers in women carrying BRCA1/2 variants, and compare with those not undergoing RRSO.

5. To identify clinicopathological features in women carrying BRCA1/2 variants who had undergone RRSO.

6. To identify the appropriate interval or degree of surveillance.

Study Timeline

• Study First Submitted: 2017-09-25
• Study First Submitted QC: 2017-09-27
• Study First Posted: 2017-09-28
• Study Start: 2017-11-08
• Status Verified: 2025-02
• Last Update Submitted: 2025-02-10
• Last Update Posted: 2025-02-11
• Primary Completion: 2032-03-31
• Study Completion: 2032-03-31

Recruitment & Eligibility

• Status: RECRUITING
• Sex: Female
• Target Recruitment: 600

Inclusion Criteria

1. Women carrying BRCA1/2 variants (those with either BRCA1 or BRCA2 variants, or those carrying both variants) and women carrying a variant of uncertain significance (VUS).
2. Women who have received sufficient genetic counseling at any medical institution, prior to enrollment to the study.
3. Women who provide consent should be 20 years of age or older.
4. Women who provide written consent.

Exclusion Criteria

1. Women without ovarian or fallopian tube cancer at the time of informed consent.
2. Women previously diagnosed with ovarian, fallopian tube, or peritoneal cancer, and not excluding those with a personal history of breast cancer development.
3. Other individuals considered inappropriate for involvement in this study by the investigator.

Study & Design

• Study Type: OBSERVATIONAL
• Study Design: Not specified

Primary Outcome Measures

Name	Time	Method
Occurrence of ovarian, fallopian tube, and peritoneal carcinoma	up to 15 years	Occurrence of ovarian, fallopian tube, and peritoneal carcinoma is a duration from the date of enrollment to the date of first occurrence of ovarian, fallopian tube, and peritoneal carcinoma. If the subjects have undergone RRSO, the duration is defined from the date of enrollment to the date of RRSO conduct

Secondary Outcome Measures

Name	Time	Method
Development of ovarian, fallopian tube, and peritoneal cancers, and the detection rate of occult cancer, based on evaluations of histopathological samples taken post-RSSO.	up to 15 years	Development of ovarian, fallopian tube, and peritoneal cancers, and the detection rate of occult cancer is a duration from the date of enrollment to the date of first occurrence of ovarian, fallopian tube, and peritoneal carcinoma. If the subjects have undergone RRSO, the duration is defined from the date of enrollment to the date of RRSO conduct. The occult cancer is defined as ovarian, fallopian tube, peritoneal, and uterine carcinomas (including serious tubal intraepithelial carcinoma, STIC), which is based on evaluations of histopathological samples taken post-RSSO.
Death from any cause, including post-RRSO period.	up to 15 years	Death from any cause, including post-RRSO period is a duration from the date of enrollment to the date of death from any cause, including in the post-RRSO period.
Death from any cause	up to 15 years	Death from any cause is a duration from the date of enrollment to the date of death from any cause. If the subjects have undergone RRSO, the duration is defined from the date of enrollment to the date of RRSO conduct.
Development of ovarian, fallopian tube, and peritoneal cancers, including in the post-RRSO period.	up to 15 years	Development of ovarian, fallopian tube, and peritoneal cancers, including in the post-RRSO period is a duration from the date of enrollment to the date of first occurrence of ovarian, fallopian tube, and peritoneal cancer, including in the post-RRSO period.
Deaths from ovarian, fallopian tube, and peritoneal cancers.	up to 15 years	Deaths from ovarian, fallopian tube, and peritoneal cancers is a duration from the date of enrollment to the date of death from these cancers. If the subjects have undergone RRSO, the term is defined from the date of enrollment to the date of RRSO undergone.
Establishing the detection rate of occult cancer based on histopathological evaluations of samples from RRSO.	up to 15 years	The occult cancer is defined as ovarian, fallopian tube, peritoneal, and uterine carcinomas (including serious tubal intraepithelial carcinoma, STIC), which is based on evaluations of histopathological samples taken post-RSSO.

Trial Locations

Locations (1)

Okayama University; 🇯🇵 Okayama, Japan