The Registration Program of BRCA1/2 Gene

Study Overview
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Brief Summary
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Purpose: Screening of large samples is to search the gene mutation of the breast cancer susceptibility gene (BRCA1 and BRCA2) in Chinese high risk group. To build the breast cancer BRCA1/2 mutation database of Chinese group. To build the hazard model of breast cancer BRCA1/2 mutation of Chinese group.

Detailed Description
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It is the first large-scale and systematic study that fully recognize and review on the mutation spectrum of BRCA1/2 and the risk of Breast cancer in Chinese high risk group, it will be a Landmark research of susceptibility genes in Chinese breast cancer.

Official Title
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The Registration Program of BRCA1/2 Gene in Chinese Breast Cancer Group

Conditions
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Breast Cancer

Intervention / Treatment
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* Genetic: NGS test


Participation Criteria
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Eligibility Criteria
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Chinese Genetic/Familial breast cancer patients, and its first or second degree relatives with breast cancer (female or male). The selection will be based on NCCN Clinical Practice Guidelines in Oncology (Genetic/Familial High-Risk Assessment: Breast and Ovarian). Inclusion Criteria: Patients: it must be from independent family and meet the one or more of the following conditions. Patients' age at diagnosis: 45 years or younger. Patients' age at diagnosis: 50 years or younger. Breast cancer patients: it must meet the one or more of the following family medical histories. 3.1 Patients' age at diagnosis: 50 years or younger, and the one or more of the next of Kin has breast cancer. 3.2 Patients' age at diagnosis: any of age, and the one or more of the next of Kin has breast cancer that its age at diagnosis was 50 years or younger. 3.3 Patients' age at diagnosis: any of age, and the two or more of the next of Kin have breast cancer that its age at diagnosis was 50 years or younger. 3.4 Patients' age at diagnosis: any of age, and the one or more of the next of Kin has epithelial ovarian cancer. 3.5 Patients' age at diagnosis: any of age, and the two or more of the next of Kin have pancreatic cancer and/or prostate cancer (Gleason grading>7, any of age). 3.6 Patients' age at diagnosis: any of age, and the one or more of the close-male relatives has breast cancer. Triple negative patients' age of onset: 60 years or younger. Patients: male and have breast cancer. Patients' first or second degree relatives are BRCA1/2 mutation carrier (1-5 people): First or second degree female adult relatives of patients (age: 18 years or older), it will be selected from the same paternal or maternal side according to the family disease. First or second degree male relatives of patients have breast cancer. Exclusion Criteria: N/A.

Ages Eligible for Study
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Minimum Age: 18 Years
Maximum Age: 60 Years

Sexes Eligible for Study
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All

Accepts Healthy Volunteers
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Accepts Healthy Volunteers

Study Plan
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How is the study designed?
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Arms and Interventions

| Participant Group/Arm | Intervention/Treatment |
| --- | --- |
| No treatment<br>There will be two groups, one is breast cancer patient group, another group inlude the first-degree relatives and second degree relatives of patients with BRCA1/2 mutation. All volunteers should provid tissue(s) and blood for NGS test. | Genetic: NGS test<br>* To record the characteristic QC parameters and evaluate the detection performance of Next-Generation Sequencing (NGS), including coverage depth and sequence similarity, then be used to evaluate the quality of base recognition and alignment. To know mutation characteristic spectrum of BRCA1/2.<br>|

What is the study measuring?
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Primary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| Screening of large samples is to search the gene mutation of the breast cancer susceptibility gene (BRCA1 and BRCA2) in Chinese high risk group. |  | About 2 years | 

Secondary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| To build the database of the Chinese breast cancer BRCA1/2 mutation. |  | About 2 years | 
| To build the hazard model of Chinese breast cancer BRCA1/2 mutation. |  | About 2 years | 

 Terms related to the study
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Keywords Provided by Centre Hospitalier Valida
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BRCA1/2 gene mutation, Breast Cancer, Chinese high risk group