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BACKGROUND: Cancer continues to be the leading cause of death. Breast cancer is the most common cancer in women. Early cancer detection can improve overall survival, quality of life and reduce healthcare expenses. However, hereditary breast cancer syndromes can cause cancer at an early age before screening recommendations in clinical guidelines.
OBJECTIVES: Asymptomatic family member screening provides health benefits through breast cancer early detection.
METHODS: A prospective observational study enrolled breast cancer patients clinically indicated for genetic testing according to NCCN Guideline for Genetic/Familial High - Risk Assessment. Demographic data, cancer, and treatment data were collected. Blood samples were sent for cancer gene panel tests by next - generation sequencing. The significant association between clinical data and pathogenic variants or likely pathogenic variants (P/LP) in cancer genes was evaluated by χ2 or Fisher’s exact test.
RESULTS: Forty - one participants were enrolled in the study. Six patients had pathogenic variants in BRCA1, BRCA2, CDH1, PMS2, and WRN genes, and 15 patients had Variant of uncertain significance (VUS) in APC, ATM, BRCA1, CHEK2, FANCA, MLH1, MSH2, and NF1 gene. None of the patients had a family history of cancer. Histology grade of cancer was associated with gene mutation status.
CONCLUSIONS: Hereditary breast cancer can be identified in patients without a family history of cancer. Pathogenic mutations associated with breast cancer can be identified in several cancer genes. Therefore, cancer screening in asymptomatic high - risk family members can detect breast cancer early, improve survival and quality of life and reduce healthcare costs.
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