Prospective Cohort Study of Germline Variant Carriers With BRCA1 or BRCA2

Translational Research Center for Medical Innovation, Kobe, Hyogo, Japan

Status: Enrolling

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

Study type: Observational

Funder types: Other

Identifiers

NCT03296826

UMIN000028740 (Registry Identifier)

JGOG3024

Details and patient eligibility

About

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.

Full 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.

Enrollment: 600 estimated patients

Sex: Female

Ages: 20+ years old

Volunteers: No Healthy Volunteers

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.

Trial design

600 participants in 1 patient group

BRCA1/2 variant carriers

Description:

Japanese women who carry BRCA 1/2 variants.