Genotyping 2 SNPs in Chinese Breast Cancers

Song Hongping

Status: Unknown

Conditions: rs185670819 and rs183489969

Treatments: Genetic: rs183489969,rs185670819

Study type: Observational

Funder types: Other

Identifiers

NCT02886845

BRCA-Genetics-2016

Details and patient eligibility

About

The purpose of this study is to determine the frequency of two Single Nucleotide Polymorphisms (SNPs) by sanger-sequencing in Breast Cancers and healthy controls .

Full description

Since the 1990s breast cancers incidence of china has increased more than twice as fast as global rates. Chinese patients are responsible for 12.2% of all newly diagnosed breast cancers and 9.6% of all deaths to world breast cancers. Breast cancer is now the second frequently diagnosed cancer and is the leading cause of cancer-related death in Chinese women.

Two of the most prevalent breast cancer susceptibility genes are BRCA1and BRCA2. However，because of population based Genetic heterogeneity, the frequency of BRCA1/BRCA2 mutation is not as high in Caucasian population as in China. Anyway, the mean age at diagnosis of breast cancer in China is almost 10 years younger and more cases are diagnosed before 40 than those in Caucasians. Therefore, it is believed that there are certain specific susceptibility loci in Chinese breast cancers.

In preliminary experiments, investigators found two germline mutations may associate with Chinese breast cancers.

The purpose of the study is to determine the frequency of two germline mutations by sanger-sequencing in a larger sample of Chinese breast cancers

Enrollment: 2,000 estimated patients

Sex: Female

Ages: 18 to 80 years old

Volunteers: Accepts Healthy Volunteers

Inclusion criteria

• Woman aged superior to 18 years old Inform consent signed Woman without breast cancer and family history of cancer

Exclusion criteria

• No inform consent signed Patient under guardianship, curatorship Psychosocial disorder

Trial design

2,000 participants in 2 patient groups

Chinese Breast Cancers

Description:

Woman with breast cancer that have been diagnosed in clinic

Treatment:

Genetic: rs183489969,rs185670819

healthy controls

Description:

Woman without breast cancer

Treatment:

Genetic: rs183489969,rs185670819