Breast Cancer
Conditions
Keywords
BRCA1/2 gene mutation, Breast Cancer, Chinese high risk group
Brief summary
Purpose: 1. Screening of large samples is to search the gene mutation of the breast cancer susceptibility gene (BRCA1 and BRCA2) in Chinese high risk group. 2. To build the breast cancer BRCA1/2 mutation database of Chinese group. 3. To build the hazard model of breast cancer BRCA1/2 mutation of Chinese group.
Detailed description
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.
Interventions
GENETICNGS test
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.
Sponsors
Chinese Anti-Cancer Association
Study design
Observational model
FAMILY_BASED
Time perspective
CROSS_SECTIONAL
Eligibility
Sex/Gender
ALL
Age
18 Years to 60 Years
Healthy volunteers
Yes
Inclusion criteria
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. 1. Patients' age at diagnosis: 45 years or younger. 2. Patients' age at diagnosis: 50 years or younger. 3. 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. 4. Triple negative patients' age of onset: 60 years or younger. 5. 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.
Design outcomes
Primary
| Measure | 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
| Measure | 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 |
Countries
China
Contacts
Primary ContactTao Wang, Doctor
Backup ContactZheng Jiang
Outcome results
None listed