A5079720176- BRCA gene mutations in cancer
- DNA Repair Mechanisms
- Cancer Genomics and Diagnostics
- Genetic factors in colorectal cancer
- Nutrition, Genetics, and Disease
- Genomic variations and chromosomal abnormalities
- CRISPR and Genetic Engineering
- SARS-CoV-2 and COVID-19 Research
- Molecular Biology Techniques and Applications
- Cancer-related Molecular Pathways
- Genomics and Rare Diseases
- COVID-19 Clinical Research Studies
- Epigenetics and DNA Methylation
- Colorectal Cancer Treatments and Studies
- PARP inhibition in cancer therapy
- Colorectal and Anal Carcinomas
- Heart rate and cardiovascular health
- Global Cancer Incidence and Screening
- Histone Deacetylase Inhibitors Research
- Gene expression and cancer classification
- Vitamin D Research Studies
- Cancer-related molecular mechanisms research
- Heart Rate Variability and Autonomic Control
- Digestive system and related health
- Hedgehog Signaling Pathway Studies
Shaukat Khanum Memorial Cancer Hospital and Research Center
2016-2025
University of the Punjab
2023
Centre of Excellence in Molecular Biology
2023
Lady Reading Hospital
2023
Cancer Hospital and Research Institute
2022
ORCID
2022
Diponegoro University
2021
Office of Basic Energy Sciences
2019
Civil Hospital Karachi
2018
Background Vitamin D is postulated to decrease the risk of breast cancer by inhibiting cell proliferation via vitamin receptor (VDR). Two common single nucleotide polymorphisms (SNPs) in VDR gene, rs1544410 (BsmI) and rs2228570 (FokI), are inconsistently associated with Caucasian populations, while data for Asians scarce. Here, we investigated possible contribution these SNPs Pakistani patients controls participating a hospital-based case-control study (PAK-BCCC). Methods Genotyping BsmI...
Pathogenic germline mutations in BRCA1 and BRCA2 (BRCA1/2) account for the majority of hereditary breast and/or ovarian cancers worldwide. To refine spectrum BRCA1/2 to accurately estimate prevalence mutation Pakistani population, we studied 539 cancer patients selected family history age diagnosis.Comprehensive screening was performed using state-of-the-art technologies.A total 133 deleterious were identified families (24.7%), comprising 110 23 BRCA2. The small-range large genomic...
Women harboring BRCA1/2 germline mutations have high lifetime risk of developing breast/ovarian cancer. The recommendation to pursue testing is based on patient's family history cancer, age disease-onset and/or pathologic parameters breast tumors. Here, we investigated if diagnosis triple-negative cancer (TNBC) independently increases carrying a mutation in Pakistan. Five hundred and twenty-three patients including 237 diagnosed ≤ 30 years 286 with were screened for small-range large genomic...
Less than 20% of Pakistani women with early-onset or familial breast/ovarian cancer harbor germ line mutations in the high-penetrance genes BRCA1, BRCA2 and TP53. Thus, other confer genetic susceptibility to breast cancer, which CHEK2 is a plausible candidate. encodes checkpoint kinase, involved response DNA damage.In present study we assessed prevalence 145 BRCA1/2-negative patients from Pakistan (Group 1). Mutation analysis complete coding region was performed using denaturing...
Partner and localizer of BRCA2 (PALB2) is a breast cancer susceptibility gene that plays an important role in DNA repair. This the first study assessing prevalence PALB2 mutations early-onset familial breast/ovarian patients from Pakistan.
Pathogenic germline variants in MLH1, MSH2 and MSH6 genes account for the majority of Lynch syndrome (LS). In this first report from Pakistan, we investigated prevalence pathogenic MLH1/MSH2/MSH6 colorectal cancer (CRC) patients.Consecutive cases (n = 212) were recruited at Shaukat Khanum Memorial Cancer Hospital Research Centre (SKMCH&RC), between November 2007 to March 2011. Patients with a family history > 3 or 2 HNPCC-associated cancers classified as HNPCC 9) suspected-HNPCC 20),...
Abstract Background The RecQ Like Helicase ( RECQL ) gene has previously been shown to predispose breast cancer mainly in European populations, particular estrogen receptor (ER) and/or progesterone (PR) positive tumor. Here, we investigated the contribution of pathogenic germline variants hereditary early-onset and familial patients from Pakistan. Methods Comprehensive variant analysis was performed 302 BRCA1 BRCA2 negative with ER PR tumors using denaturing high-performance liquid...
Knowledge of population specific BRCA1/2 founder mutations provides a valuable and cost-effective genetic testing strategy. Twenty-three recurrent BRCA1 have been identified previously in 100 Pakistani breast and/or ovarian cancer families. These accounted for 72.5% all identified. In our study, we investigated whether these (identified ≥2 unrelated patients) common ancestral origin estimated the ages mutations. Haplotype analyses were performed 188 individuals (100 index patients, 88...
Hereditary breast and ovarian cancer syndrome (HBOC) Lynch (LS) account for a significant proportion of inherited gynecologic malignancies, mainly caused by pathogenic germline mutations in the BRCA1 BRCA2 genes or mismatch repair (MMR) genes, such as MLH1 MSH2. Women harboring deleterious these have increased life-time risks developing number malignancies including cancer. Since there is phenotypic overlap HBOC LS, timely identification individuals at-risk particular crucial order to...
has been reported as a breast cancer (BC) and ovarian (OC) predisposition gene, particularly among Caucasian populations. We studied the prevalence of
Background: Cancer patients often experience a decline in their nutritional status due to chemotherapy, which can result malnutrition and negatively impact quality of life. However, there has been limited research on the prevalence these conditions breast cancer undergoing chemotherapy Indonesia. Purposes: This aims explore connection between life receiving treatment. Methods: A cross-sectional study was conducted private hospital Pekanbaru using non-probability sampling. Demographic...
Breast cancer is a heterogeneous disease. Several genetic, environmental and lifestyle factors are involved in the aetiology of this Genetic risk include alterations (mutations) genes conferring risks to develop breast cancer. Depending on associated lifetime malignancy, these categorised into high-, moderate- low-risk genes. Women carrying mutations at an increased cancer, ovarian several other malignancies. carcinoma most reported malignancy Pakistani females. Pakistan developing country...
Background and Aim: Wilms tumor (WT) is the most common childhood malignant renal tumor. Germline mutations in several WT predisposition genes have been identified. However, fundamental cause of patients remains unexplained. Recently, a founder mutation, c.1060C>T (p. Arg254X) mitotic spindle checkpoint gene, TRIP13 , was reported 5 unrelated children with from United Kingdom, Pakistani descent Azad Kashmir region. This observation suggests other Pakistan may also harbor this mutation. We...