Genotyping 2 SNPs in Chinese Breast Cancers

Study Overview
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Brief Summary
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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 .

Detailed Description
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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

Official Title
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Study of Two Single Nucleotide Polymorphisms in Chinese Breast Cancers

Conditions
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rs185670819 and rs183489969

Intervention / Treatment
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* Genetic: rs183489969,rs185670819


Participation Criteria
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Eligibility Criteria
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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

Ages Eligible for Study
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Minimum Age: 18 Years
Maximum Age: 80 Years

Sexes Eligible for Study
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Female

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 |
| --- | --- |
| Chinese Breast Cancers<br>Woman with breast cancer that have been diagnosed in clinic | Genetic: rs183489969,rs185670819<br>* compare the frequency of two germline mutations in breast cancers and controls<br>|
| healthy controls<br>Woman without breast cancer | Genetic: rs183489969,rs185670819<br>* compare the frequency of two germline mutations in breast cancers and controls<br>|

What is the study measuring?
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Primary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| Genotyping of 2 SNPs ( rs185670819 and rs183489969) in Chinese breast cancer patients and age-matched healthy control women . |  | January of 2019 | 

Secondary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| Both of the 2 SNPs' minor allele frequency or affected ratio shows statistically significant differences between case and control groups |  | June of 2019 | 

 Terms related to the study
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Keywords Provided by Centre Hospitalier Valida
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SNP,Breast Neoplasms