<> "The repository administrator has not yet configured an RDF license."^^ . <> . . . "High prevalence and predominance of BRCA1 germline mutations in Pakistani triple-negative breast cancer patients"^^ . "Background: Women harboring BRCA1/2 germline mutations have high lifetime risk of developing breast/ovarian cancer. The recommendation to pursue BRCA1/2 testing is based on patient’s family history of breast/ovarian cancer, age of disease-onset and/or pathologic parameters of breast tumors. Here, we investigated if diagnosis of triple-negative breast cancer (TNBC) independently increases risk of carrying a BRCA1/2 mutation in Pakistan. Methods: Five hundred and twenty-three breast cancer patients including 237 diagnosed ≤ 30 years of age and 286 with a family history of breast/ovarian cancer were screened for BRCA1/2 small-range mutations and large genomic rearrangements. Immunohistochemical analyses were performed at one center. Univariate and multiple logistic regression models were used to investigate possible differences in prevalence of BRCA1/2 mutations according to patient and tumor characteristics. Results: Thirty-seven percent of patients presented with TNBC. The prevalence of BRCA1 mutations was higher in patients with TNBC than non-TNBC (37% vs. 10%, P < 0.0001). 1% of TNBC patients were observed to have BRCA2 mutations. Subgroup analyses revealed a larger proportion of BRCA1 mutations in TNBC than non-TNBC among patients 1) diagnosed at early-age with no family history of breast/ovarian cancer (14% vs. 5%, P = 0.03), 2) diagnosed at early-age irrespective of family history (28% vs. 11%, P = 0.0003), 3) had a family history of breast cancer (49% vs. 12%, P < 0.0001), and 4) those with family history of breast and ovarian cancer (81% vs. 28%, P = 0.0005). TNBC patients harboring BRCA1 mutations were diagnosed at a later age than non-carriers (median age at diagnosis: 30 years (range 22–53) vs. 28 years (range 18–67), P = 0.002). The association between TNBC status and presence of BRCA1 mutations was independent of the simultaneous consideration of family phenotype, tumor histology and grade in a multiple logistic regression model (Ratio of the probability of carrying BRCA1/2 mutations for TNBC vs. non-TNBC 4.23; 95% CI 2.50–7.14; P < 0.0001). Conclusion: Genetic BRCA1 testing should be considered for Pakistani women diagnosed with TNBC."^^ . "2016" . . "16" . "673" . . "BioMed Central; Springer"^^ . . . "BMC Cancer"^^ . . . "14712407" . . . . . . . . . . . . . . . . . . . . . . . . . . . . . "Muhammad"^^ . "Tahseen"^^ . "Muhammad Tahseen"^^ . . "Saima"^^ . "Faisal"^^ . "Saima Faisal"^^ . . "Asif"^^ . "Loya"^^ . "Asif Loya"^^ . . "Ute"^^ . "Hamann"^^ . "Ute Hamann"^^ . . "Asim"^^ . "Amin"^^ . "Asim Amin"^^ . . "Seerat"^^ . "Bajwa"^^ . "Seerat Bajwa"^^ . . "Justo"^^ . "Lorenzo Bermejo"^^ . "Justo Lorenzo Bermejo"^^ . . "Muhammad Usman"^^ . "Rashid"^^ . "Muhammad Usman Rashid"^^ . . "Noor"^^ . "Muhammad"^^ . "Noor Muhammad"^^ . . . . . . "High prevalence and predominance of BRCA1 germline mutations in Pakistani triple-negative breast cancer patients (PDF)"^^ . . . "12885_2016_Article_2698.pdf"^^ . . . "High prevalence and predominance of BRCA1 germline mutations in Pakistani triple-negative breast cancer patients (Other)"^^ . . . . . . "lightbox.jpg"^^ . . . "High prevalence and predominance of BRCA1 germline mutations in Pakistani triple-negative breast cancer patients (Other)"^^ . . . . . . "preview.jpg"^^ . . . "High prevalence and predominance of BRCA1 germline mutations in Pakistani triple-negative breast cancer patients (Other)"^^ . . . . . . "medium.jpg"^^ . . . "High prevalence and predominance of BRCA1 germline mutations in Pakistani triple-negative breast cancer patients (Other)"^^ . . . . . . "small.jpg"^^ . . . "High prevalence and predominance of BRCA1 germline mutations in Pakistani triple-negative breast cancer patients (Other)"^^ . . . . . . "indexcodes.txt"^^ . . "HTML Summary of #21808 \n\nHigh prevalence and predominance of BRCA1 germline mutations in Pakistani triple-negative breast cancer patients\n\n" . "text/html" . . . "610 Medizin"@de . "610 Medical sciences Medicine"@en . .