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Objective: To determine the associations between the polymorphisms of N372H in BRCA2 gene and 135G/C in RAD51 gene and breast cancers.
Methods: The allele and genotype frequencies of N372H in BRCA2 gene and 135G/C in RAD51 gene were analyzed with denaturing high performance liquid chromatography (DHPLC) and polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) in 71 women with breast cancers and 85 normal, women.
Results: The women with breast cancers had higher frequencies of genotype HH of the N372H locus in BRCA2 gene than the normal women. No statistical difference in the polymorphic distribution of 135G/C in RAD51 gene was observed between the two groups of women.
Conclusion: The genotype HH of the N372H locus in BRCA2 is associated with breast cancers, which might be a genetic risk factor for breast cancers in Chinese populations.
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JCO Precis Oncol
September 2025
Department of Neurosurgery, Children's Hospital Affiliated to Shandong University, Jinan, China.
Purpose: Germ cell tumors (GCTs) are a heterogeneous group of neoplasms that predominantly affect adolescents and young adults. Notably, geographical disparities in GCT incidence exist, with higher rates observed in East Asia. Although numerous studies have established links between heterozygous germline mutations in Fanconi anemia (FA) genes and the development of certain human cancers, the association between germline pathogenic or likely pathogenic (P/LP) variants in FA genes and the relative risk of developing GCTs remains incompletely characterized.
View Article and Find Full Text PDFACS Omega
August 2025
Office of Research Administrations, Chiang Mai University, Chiang Mai 50200, Thailand.
The early 1990s marked a pivotal era in oncology with the elucidation of the molecular etiology of hereditary cancers, fundamentally transforming our understanding of genetic susceptibility. Ovarian cancer (OC) remains the most fatal gynecologic malignancy, often diagnosed at advanced stages with limited modifiable risk factors. Globally, it ranks as the eighth most frequently diagnosed cancer in women, underscoring its significant public health burden.
View Article and Find Full Text PDFBJU Int
September 2025
Division Laboratories, Pharmacy and Biomedical Genetics, Department of Genetics, University Medical Center Utrecht, Utrecht, The Netherlands.
Objective: To assess the prevalence of germline pathogenic variants (gPVs) in genes associated with female breast cancer in Dutch patients with metastatic prostate cancer (mPCa).
Patients And Methods: In this prospective multicentre cohort study (nā=ā15 centres), germline genetic testing of the genes BRCA1, BRCA2, ATM, CHEK2 and PALB2 was offered to patients with mPCa. We assessed the prevalence of gPVs and compared it to a reference population of 16ā823 individuals who underwent genetic testing for non-oncological conditions.
Hum Genet
August 2025
Department of in Vitro Diagnostic Reagent, National Institutes for Food and Drug Control (NIFDC), No.2 Tiantanxili, Dongcheng District, Beijing, 10050, China.
High-quality, regulatory-grade databases for precise genetic variant interpretation are critically needed for Chinese populations, where existing fragmented databases impede clinical effectiveness evaluations. We developed BRCA-CN, a consortium blockchain-based governance framework specifically designed for BRCA gene variant interpretation in Chinese populations. Our framework compiled 66,485 variants from 6,031 samples across six Chinese laboratories.
View Article and Find Full Text PDFCase Rep Oncol Med
August 2025
Division of Hematology, Oncology and Palliative Care, Virginia Commonwealth University Massey Comprehensive Cancer Center, Richmond, Virginia, USA.
Deficiency in genes leads to impediment in DNA repair and is associated with an increased lifetime risk of breast, ovarian, prostate, and pancreatic cancer and melanoma. Lynch syndrome is caused by inherited mutations in genes responsible for DNA mismatch repair, with resultant increase in lifetime risk of colorectal, endometrial, ovarian, stomach, urinary, pancreatic, and CNS malignancies. Here, we present a patient with a rare coexistence of both and mutation in the setting of metastatic pancreatic and prostate cancer.
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