Prevalence of Novel and Recurrent Pathogenic Variants in Genes in a Cohort of Iranian Hereditary Breast Cancer Patients.
1/5 보강
PICO 자동 추출 (휴리스틱, conf 2/4)
유사 논문P · Population 대상 환자/모집단
50 patients, pathogenic variants were found in 16 patients (12 in the and 4 in the gene) that were mainly frameshift index (50%).
I · Intervention 중재 / 시술
추출되지 않음
C · Comparison 대조 / 비교
추출되지 않음
O · Outcome 결과 / 결론
[RESULTS] Among the 50 patients, pathogenic variants were found in 16 patients (12 in the and 4 in the gene) that were mainly frameshift index (50%). We identified a novel pathogenic variants (p.Cyc27Valfs*4) in and four which were not previously reported in Iranian BC patients.
[BACKGROUND] The incidence of breast cancer (BC) is increasing in Iranian women, especially in those with a positive family history of any type of cancer.
APA
Sarmadi A, Haghjooy Javanmard S, et al. (2025). Prevalence of Novel and Recurrent Pathogenic Variants in Genes in a Cohort of Iranian Hereditary Breast Cancer Patients.. Advanced biomedical research, 14, 175. https://doi.org/10.4103/abr.abr_681_24
MLA
Sarmadi A, et al.. "Prevalence of Novel and Recurrent Pathogenic Variants in Genes in a Cohort of Iranian Hereditary Breast Cancer Patients.." Advanced biomedical research, vol. 14, 2025, pp. 175.
PMID
41669295
Abstract
[BACKGROUND] The incidence of breast cancer (BC) is increasing in Iranian women, especially in those with a positive family history of any type of cancer. Being a carrier of pathogenic variants in genes, significantly raises the risk of developing BC, mostly at young ages.
[MATERIALS AND METHODS] We sequenced the entire coding regions of 2 genes using next generation sequencing (NGS) in 50 selected patients with HBC criteria for genetic testing from a cohort of about 700 newly diagnosed BC patients. In the patient with novel pathogenic variant, bioinformatics and co-segregation study were performed, and American College of Medical Genetics and Genomics (ACMG) guidelines were used for the variant's interpretation.
[RESULTS] Among the 50 patients, pathogenic variants were found in 16 patients (12 in the and 4 in the gene) that were mainly frameshift index (50%). We identified a novel pathogenic variants (p.Cyc27Valfs*4) in and four which were not previously reported in Iranian BC patients. Interestingly, out of 12 pathogenic variants in the gene, three unrelated families had the same variant (p.Arg1203Term) which could be added as a recurrent variant in the Iranian population. Notably, the frequency of triple-negative breast cancer (TNBC) patients harboring mutations was significant (62.5%).
[CONCLUSIONS] Young age at onset and having a positive family history of cancer are among the most important criteria to perform genetic testing. Identification of the carriers of pathogenic variants in high-risk families and also recurrent variants in the population will contribute to prevent of HBC.
[MATERIALS AND METHODS] We sequenced the entire coding regions of 2 genes using next generation sequencing (NGS) in 50 selected patients with HBC criteria for genetic testing from a cohort of about 700 newly diagnosed BC patients. In the patient with novel pathogenic variant, bioinformatics and co-segregation study were performed, and American College of Medical Genetics and Genomics (ACMG) guidelines were used for the variant's interpretation.
[RESULTS] Among the 50 patients, pathogenic variants were found in 16 patients (12 in the and 4 in the gene) that were mainly frameshift index (50%). We identified a novel pathogenic variants (p.Cyc27Valfs*4) in and four which were not previously reported in Iranian BC patients. Interestingly, out of 12 pathogenic variants in the gene, three unrelated families had the same variant (p.Arg1203Term) which could be added as a recurrent variant in the Iranian population. Notably, the frequency of triple-negative breast cancer (TNBC) patients harboring mutations was significant (62.5%).
[CONCLUSIONS] Young age at onset and having a positive family history of cancer are among the most important criteria to perform genetic testing. Identification of the carriers of pathogenic variants in high-risk families and also recurrent variants in the population will contribute to prevent of HBC.