Clinical trial NCT03296826: Prospective Cohort Study of Germline Variant Carriers with BRCA1 or BRCA2
Official title: Prospective Cohort Study of Germline Variant Carriers with BRCA1 or BRCA2
Study type: OBSERVATIONAL
Overall status: RECRUITING
Conditions: BRCA1 And/or BRCA2 Variant Carriers
Ovarian Carcinoma
Fallopian Tube Carcinoma
Peritoneal Carcinoma
Lead sponsor: Translational Research Center for Medical Innovation, Kobe, Hyogo, Japan
Sponsor class: OTHER
Collaborators: name: Okayama University
name: Japanese Gynecologic Oncology Group
First posted: 2017-09-28
Enrollment: 600
Sex: FEMALE
Minimum age (years): 20
Standard ages: ADULT
OLDER_ADULT
Accepts healthy volunteers: no
Observational model: COHORT
Time perspective: PROSPECTIVE
Sampling method: NON_PROBABILITY_SAMPLE
Study population: BRCA1 and/or BRCA2 variant carriers

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.

Eligibility criteria: 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.

Primary outcomes:
measure: Occurrence of ovarian, fallopian tube, and peritoneal carcinoma
timeFrame: up to 15 years
Secondary outcomes:
measure: Development of ovarian, fallopian tube, and peritoneal cancers, and the detection rate of occult cancer, based on evaluations of histopathological samples taken post-RSSO.
timeFrame: up to 15 years
measure: Death from any cause
timeFrame: up to 15 years
measure: Deaths from ovarian, fallopian tube, and peritoneal cancers.
timeFrame: up to 15 years
measure: Establishing the detection rate of occult cancer based on histopathological evaluations of samples from RRSO.
timeFrame: up to 15 years
measure: Development of ovarian, fallopian tube, and peritoneal cancers, including in the post-RRSO period.
timeFrame: up to 15 years
measure: Death from any cause, including post-RRSO period.
timeFrame: up to 15 years
Other outcomes:
Locations:
city: Okayama
country: Japan
facility: Okayama University
Study officials:
affiliation: Okayama University
name: Akira Hirasawa, M.D., Ph.D.
role: STUDY_CHAIR
References: