B7-H4gene polymorphisms are associated with sporadic breast cancer in a Chinese Han population

Histamine H2receptor (HRH2) was previously suggested to affect the proliferation of breast cancer cells and disease-free survival of breast cancer patients. Furthermore, a common polymorphism, rs2067474, was identified in an enhancer element of theHRH2gene promoter and was reported to be associated with various diseases including cancer. However, the relationship between this polymorphism and breast cancer risk and malignant degree remains unclear. The aim of this study was to clarify the clinical association of rs2067474 polymorphism with breast cancer. A total of 201 unrelated Chinese Han breast cancer patients and 238 ethnicity-matched health controls were recruited and rs2067474 polymorphism was genotyped. Logistic regression analyses were performed to calculate the odds ratios (ORs) as a measure of association of genotype with breast cancer according to 3 genetic models (dominant, recessive, and additive). Although the percentage of hormone receptor negative cases tended to be higher in AA genotypes, we did not find any significant associations of rs2067474 polymorphism with breast cancer risk or with related clinicopathological parameters in the present study, which indicates that rs2067474 polymorphism ofHRH2gene might not be a risk factor in the development of breast cancer in Chinese Han population.

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Impact of ESR1 Polymorphisms on Risk of Breast Cancer in the Chinese Han Population

Clinical Breast Cancer ◽

10.1016/j.clbc.2020.10.003 ◽

2020 ◽

Author(s):

Wei Yang ◽

Xue He ◽

Chunjuan He ◽

Linna Peng ◽

Shishi Xing ◽

...

Keyword(s):

Breast Cancer ◽

Chinese Han Population ◽

Chinese Han ◽

Han Population

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Prevalence of BRCA1/BRCA2 pathogenic variation in Chinese Han population

Journal of Medical Genetics ◽

10.1136/jmedgenet-2020-106970 ◽

2020 ◽

pp. jmedgenet-2020-106970 ◽

Cited By ~ 1

Author(s):

Hui Dong ◽

Khyati Chandratre ◽

Yue Qin ◽

Jing Zhang ◽

Xiaoqing Tian ◽

...

Keyword(s):

Breast Cancer ◽

Hereditary Breast Cancer ◽

Chinese Population ◽

Chinese Han Population ◽

Basic Knowledge ◽

Chinese Han ◽

Han Population ◽

Pathogenic Variation ◽

Prevention And Treatment ◽

Brca1 Brca2

BackgroundPathogenic variation in BRCA1 and BRCA2 (BRCA) is one of the most frequent genetic predispositions for hereditary breast cancer. The identification of the variant carriers plays an important role in prevention and treatment of cancer. Despite a population size of 1.4 billion and a quarter million annual new breast cancer cases, knowledge regarding the prevalence of BRCA variation in the Chinese population remains elusive.MethodsIn this study, we used BRCA-targeted sequencing and bioinformatics approaches to screen for BRCA variants in 11 386 Chinese Han individuals, including 9331 females and 2055 males.ResultsWe identified 1209 BRCA variants, 34 of which were pathogenic, including 11 in BRCA1 and 23 in BRCA2. These variants were distributed among 43 individuals (37 females and 6 males), with 13 carrying BRCA1 and 30 carrying BRCA2 variants. Based on these data, we determined a prevalence of 0.38%, or 1 carrier of a BRCA pathogenic variant out of every 265 Chinese Han individuals, and 5.1 million carriers among the Chinese Han population of 1.3 billion.ConclusionOur study provides basic knowledge about the prevalence of BRCA pathogenic variation in the Chinese Han population. This information should be valuable for BRCA-related cancer prevention and treatment in the population.

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