The application of high-resolution melting curve analysis in the detection of BRCA1/2 gene mutation in the population with high breast cancer risk / 中华检验医学杂志

ABSTRACT

Objective To analyze the gene mutation and clinical characteristics of BRCA 1/2 by high resolution melting curve ( HRM ) in breast cancer patients and high risk groups , and to discuss the application value for BRCA 1/2 mutation detection by using HRM curve analysis in people at high risk of breast cancer.Method The clinical control analysis was used ,Peripheral blood samples of 52breast cancer patients,their first-degree relatives (52 cases consisting of high risk group ) and 40 healthy people without family history of breast cancer cases were collected from Anhui Province Tumor Hospital or Bozhou People ′s Hospital during March 2015 to June 2016.To establish an effective method for BRCA 1/2 mutation detection by using HRM curve, and the mutation positive results were validated by gene sequencing .To analyze the correlation between the of BRCA 1/2 gene mutation and the risk factors , a logistic method was used .Results 9 cases of BRCA1/2 gene mutations were found in 52cases of breast cancer patients and the mutation rate was 17.3%.5 cases of BRCA1/2 gene mutations were found in 52 cases of breast cancer high risk groups and the mutation rate was 9.6%.In 40 healthy people who without family history of breast cancer cases ,we found only 1 gene mutation case.All the mutation positive results detected by HRM curve analysis were matched with gene sequencing results .BRCA1/2 gene mutations and the risk factors such as primiparous age and chronic mammary gland disease have a certain correlation .In the 9 cases of BRCA1/2 gene mutations , we found 5 cases of BRCA1/2 gene mutations in their first-degree relatives, with the consistency of 44.4%(4/9).Conclusion Thebreast cancer patients′s first-degree relatives have a high mutation rates on BRCA1/2 gene and they can be the key screening objects .HRM curve analysis can be used in health screening and risk assessment at the breast cancerhigh risk groups .