Prospective Cohort Study of Germline Variant Carriers With BRCA1 or BRCA2

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.

Study Overview

• Status: Recruiting
• Conditions: Fallopian Tube Carcinoma; Peritoneal Carcinoma; Ovarian Carcinoma; BRCA1 and/or BRCA2 Variant Carriers

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 Type: Observational
• Enrollment (Estimated): 600

Contacts and Locations

• Study Contact: Name: Akira Hirasawa, M.D., Ph.D.; Phone Number: +81-86-235-7436; Email: hir-aki45@umin.org

Study Locations

• Japan
  • Okayama, Japan
    • Recruiting
    • Okayama University
    • Contact: Akira Hirasawa, M.D., Ph.D.

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: 20 years and older (Adult, Older Adult)
• Accepts Healthy Volunteers: No

• Sampling Method: Non-Probability Sample

Study Population

BRCA1 and/or BRCA2 variant carriers

Description

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 Plan

How is the study designed?

Design Details

• Observational Models: Cohort
• Time Perspectives: Prospective

Number of groups / cohorts

1

Cohorts and Interventions

Group / Cohort
BRCA1/2 variant carriers; Japanese women who carry BRCA 1/2 variants.

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Measure Description	Time Frame
Occurrence of ovarian, fallopian tube, and peritoneal carcinoma	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	up to 15 years

Secondary Outcome Measures

Outcome Measure	Measure Description	Time Frame
Development of ovarian, fallopian tube, and peritoneal cancers, and the detection rate of occult cancer, based on evaluations of histopathological samples taken post-RSSO.	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.	up to 15 years
Death from any cause	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.	up to 15 years
Deaths from ovarian, fallopian tube, and peritoneal cancers.	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.	up to 15 years
Establishing the detection rate of occult cancer based on histopathological evaluations of samples from RRSO.	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.	up to 15 years
Development of ovarian, fallopian tube, and peritoneal cancers, including in the post-RRSO period.	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.	up to 15 years
Death from any cause, including post-RRSO period.	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.	up to 15 years

Collaborators and Investigators

• Sponsor: Translational Research Center for Medical Innovation, Kobe, Hyogo, Japan
• Collaborators: Okayama University; Japanese Gynecologic Oncology Group
• Investigators: Study Chair: Akira Hirasawa, M.D., Ph.D., Okayama University

Study record dates

Study Major Dates

• Study Start (Actual): November 8, 2017
• Primary Completion (Estimated): March 31, 2032
• Study Completion (Estimated): March 31, 2032

Study Registration Dates

• First Submitted: September 25, 2017
• First Submitted That Met QC Criteria: September 27, 2017
• First Posted (Actual): September 28, 2017

Study Record Updates

• Last Update Posted (Actual): February 3, 2026
• Last Update Submitted That Met QC Criteria: January 30, 2026
• Last Verified: January 1, 2026

More Information

Terms related to this study

• Additional Relevant MeSH Terms: Urogenital Diseases; Genital Diseases; Endocrine System Diseases; Urogenital Neoplasms; Neoplasms by Site; Neoplasms; Female Urogenital Diseases; Female Urogenital Diseases and Pregnancy Complications; Genital Diseases, Female; Endocrine Gland Neoplasms; Ovarian Diseases; Adnexal Diseases; Genital Neoplasms, Female; Gonadal Disorders; Fallopian Tube Diseases; Ovarian Neoplasms; Fallopian Tube Neoplasms
• Other Study ID Numbers: JGOG3024; UMIN000028740 (Registry Identifier: UMIN-CTR)

Drug and device information, study documents

• Studies a U.S. FDA-regulated drug product: No
• Studies a U.S. FDA-regulated device product: No
• product manufactured in and exported from the U.S.: No