P. Gervas (Tomsk, Russian Federation)
Author Of 1 Presentation
34P - New pathogenic germline mutation in ATM gene in Khakass breast cancer patients
Abstract
Background
In Russia, more than 50,000 women are diagnosed with breast cancer every year. Russia is a multinational country - about 200 ethnic groups live on its territory. To date, there are a limited number of reports on inherited gene mutations associated with breast cancer among Khakass (Mongoloid indigenous people in Russia). The aim of this study was to assess the prevalence of mutations of breast cancer-associated genes in 27 Khakass women with breast cancer.
Methods
Our study included 27 Khakass patients with breast cancer (range, 28 to 47 years). Genomic DNA isolated from blood samples was used to prepare libraries using a capture-based target enrichment kit, Hereditary Cancer Solution™ (SOPHiA GENETICS, Switzerland), covering 27 genes (ATM, APC, BARD1, BRCA1, BRCA2, BRIP1, CDH1, CHEK2, EPCAM, FAM175A, MLH1, MRE11A, MSH2, MSH6, MUTYH, NBN, PALB2, PIK3CA, PMS2, PMS2CL, PTEN, RAD50, RAD51C, RAD51D, STK11, TP53 and XRCC2). Next-generation sequencing (NGS) was performed using the Illumina NextSeq500 System (Illumina, USA).
Results
In our study, one pathogenic mutation was detected in ATM (rs780619951, NC_000011.10:g.108259022C>T) gene in two unrelated individuals with family history of cancer (prevalence of 7,4%, 2/27). As known, this sequence change creates a premature translational stop signal at codon 805 (p.Arg805*). It is also expected to result in an absent or disrupted protein product. This variant has been reported in individuals affected with ataxia-telangiectasia, as well as an individual with a personal or family history of breast or ovarian cancer.
Conclusions
To the best of our knowledge, this report is the first to describe the pathogenic variant in the ATM gene (rs780619951) in two Khakass breast cancer patient with family history of cancer. The reported study was funded by RFBR according to research project 18-29-09046.
Legal entity responsible for the study
The authors.
Funding
The reported study was funded by RFBR according to research project 18-29-09046.
Disclosure
All authors have declared no conflicts of interest.
Presenter Of 1 Presentation
34P - New pathogenic germline mutation in ATM gene in Khakass breast cancer patients
Abstract
Background
In Russia, more than 50,000 women are diagnosed with breast cancer every year. Russia is a multinational country - about 200 ethnic groups live on its territory. To date, there are a limited number of reports on inherited gene mutations associated with breast cancer among Khakass (Mongoloid indigenous people in Russia). The aim of this study was to assess the prevalence of mutations of breast cancer-associated genes in 27 Khakass women with breast cancer.
Methods
Our study included 27 Khakass patients with breast cancer (range, 28 to 47 years). Genomic DNA isolated from blood samples was used to prepare libraries using a capture-based target enrichment kit, Hereditary Cancer Solution™ (SOPHiA GENETICS, Switzerland), covering 27 genes (ATM, APC, BARD1, BRCA1, BRCA2, BRIP1, CDH1, CHEK2, EPCAM, FAM175A, MLH1, MRE11A, MSH2, MSH6, MUTYH, NBN, PALB2, PIK3CA, PMS2, PMS2CL, PTEN, RAD50, RAD51C, RAD51D, STK11, TP53 and XRCC2). Next-generation sequencing (NGS) was performed using the Illumina NextSeq500 System (Illumina, USA).
Results
In our study, one pathogenic mutation was detected in ATM (rs780619951, NC_000011.10:g.108259022C>T) gene in two unrelated individuals with family history of cancer (prevalence of 7,4%, 2/27). As known, this sequence change creates a premature translational stop signal at codon 805 (p.Arg805*). It is also expected to result in an absent or disrupted protein product. This variant has been reported in individuals affected with ataxia-telangiectasia, as well as an individual with a personal or family history of breast or ovarian cancer.
Conclusions
To the best of our knowledge, this report is the first to describe the pathogenic variant in the ATM gene (rs780619951) in two Khakass breast cancer patient with family history of cancer. The reported study was funded by RFBR according to research project 18-29-09046.
Legal entity responsible for the study
The authors.
Funding
The reported study was funded by RFBR according to research project 18-29-09046.
Disclosure
All authors have declared no conflicts of interest.