The Impact of BRCA۱ and BRCA۲ Genetic Mutations on Progression and Treatment Response in Inflammatory Breast Cancer

Introduction Inflammatory breast cancer (IBC) is a rare but aggressive form of breast cancer characterized by rapid progression and poor prognosis. Genetic mutations in BRCA۱ and BRCA۲ are known to significantly influence breast cancer susceptibility and response to therapy. This study aims to evaluate the impact of BRCA۱ and BRCA۲ mutations on the progression and treatment response in patients with IBC. Material and Method This retrospective study analyzed data from ۱۵۰ IBC patients, comprising ۱۲۰ females and ۳۰ males, with a mean age of ۵۲ years. Genetic testing for BRCA۱ and BRCA۲ mutations was performed, and patients were monitored for disease progression and response to standard treatments, including chemotherapy, radiotherapy, and targeted therapies. Data were collected from medical records and patient follow-ups over a period of five years. Result Out of ۱۵۰ patients, ۴۵ (۳۰%) were found to have BRCA۱ mutations, and ۳۵ (۲۳.۳%) had BRCA۲ mutations. Among those with BRCA۱ mutations, ۳۳ patients (۷۳.۳%) showed rapid disease progression compared to ۱۸ patients (۵۱.۴%) with BRCA۲ mutations. Treatment response rates were lower in patients with BRCA۱ mutations, with only ۲۰ patients (۴۴.۴%) responding favorably to chemotherapy, whereas ۲۶ patients (۷۴.۳%) with BRCA۲ mutations responded well. Overall survival rates were significantly lower in the BRCA۱ mutation group, with a ۵-year survival rate of ۲۵%, compared to ۵۵% in the BRCA۲ mutation group. Conclusion BRCA۱ mutations are associated with more aggressive disease progression and poorer treatment response in IBC patients compared to BRCA۲ mutations. These findings highlight the need for personalized treatment approaches and genetic counseling for IBC patients carrying BRCA۱ or BRCA۲ mutations to improve clinical outcomes. References: ۱. Faldoni FL, Villacis RA, Canto LM, Fonseca-Alves CE, Cury SS, Larsen SJ, Aagaard MM, Souza CP, Scapulatempo-Neto C, Osório CA, Baumbach J. Inflammatory breast cancer: clinical implications of genomic alterations and mutational profiling. Cancers. ۲۰۲۰ Sep ۳۰;۱۲(۱۰):۲۸۱۶. ۲. Satyananda V, Oshi M, Endo I, Takabe K. High BRCA۲ gene expression is associated with aggressive and highly proliferative breast cancer. Annals of surgical oncology. ۲۰۲۱ Nov;۲۸(۱۲):۷۳۵۶-۶۵. ۳. Bertucci F, Rypens C, Finetti P, Guille A, Adélaïde J, Monneur A, Carbuccia N, Garnier S, Dirix P, Gonçalves A, Vermeulen P. NOTCH and DNA repair pathways are more frequently targeted by genomic alterations in inflammatory than in non‐inflammatory breast cancers. Molecular oncology. ۲۰۲۰ Mar;۱۴(۳):۵۰۴-۱۹.

کلیدواژه ها:

BRCA۱ ، BRCA۲ ، inflammatory breast cancer ، genetic mutations ، disease progression