ArticleBMC cancer2016
High prevalence and predominance of BRCA1 germline mutations in Pakistani triple-negative breast cancer patients.
Article in BMC cancer, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 19 papers, 1 of them a synthesis that pooled it.
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Who cites it
19 citing papers in PubMed, 1 synthesis or guideline pooled it, 37 citations in OpenAlex.
- Genomic landscape of triple-negative breast cancer in South Asian populations: a systematic review.BMC cancer · 2026Pooled it
- Contribution of constitutional BRCA1 promoter methylation to early-onset and familial breast cancer patients from Pakistan.Breast cancer research and treatment · 2023Article
- Microtubule Acetylation-Specific Inhibitors Induce Cell Death and Mitotic Arrest via JNK/AP-1 Activation in Triple-Negative Breast Cancer Cells.Molecules and cells · 2023Article
- Potential prognostic role of somatic mutations in a set of cancer susceptibility genes in ovarian carcinoma: A follow-up multicentric study from Pakistan.Cancer biomarkers : section A of Disease markers · 2023Article
- BRCA1 and BRCA2 mutations and their clinical relevance in selected women diagnosed with triple-negative breast cancer in Kenya: a descriptive cross-sectional study.The Pan African medical journal · 2023Article
- Analysis of pathogenic variants in BRCA1 and BRCA2 genes using next-generation sequencing in women with triple negative breast cancer from South India.Molecular biology reports · 2022Article
- Genetic landscape of pancreatic adenocarcinoma patients: a pilot study from Pakistan.Molecular biology reports · 2022Article
- Germline Mutation Analysis in Sporadic Breast Cancer Cases With Clinical Correlations.Frontiers in genetics · 2022Article
- Next Generation Sequencing-Based Germline Panel Testing for Breast and Ovarian Cancers in Pakistan.Asian Pacific journal of cancer prevention : APJCP · 2021Article
- Prevalence of RECQL germline variants in Pakistani early-onset and familial breast cancer patients.Hereditary cancer in clinical practice · 2020Article
- Article
- Are Basal-Like and Non-Basal-Like Triple-Negative Breast Cancers Really Different?Journal of oncology · 2020Article
- Prevalence of PALB2 Germline Mutations in Early-onset and Familial Breast/Ovarian Cancer Patients from Pakistan.Cancer research and treatment · 2019Article
- Non-Journal of global oncology · 2019Article
- Spectrum and prevalence ofHereditary cancer in clinical practice · 2019Article
- Descriptive study of triple negative breast cancer in Eastern Algeria.The Pan African medical journal · 2018Article
- Increased Tumour Infiltration of CD4+ and CD8+ T-Lymphocytes in Patients with Triple Negative Breast Cancer Suggests Susceptibility to Immune TherapyAsian Pacific journal of cancer prevention : APJCP · 2017Article
- Hormone receptor status and survival of medullary breast cancer patients. A Turkish cohort.Saudi medical journal · 2017Article
- Screening, diagnosis and genetic study of breast cancer patients in Pakistan.Pakistan journal of medical sciencesArticle
Corrections and comments
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Authors and funding
9 authors at 4 institutions in 3 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundWomen 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.
methodsFive 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.
resultsThirty-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).
conclusionGenetic BRCA1 testing should be considered for Pakistani women diagnosed with TNBC.
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