Diptasri Mandal
A5000406916- RNA modifications and cancer
- Lung Cancer Treatments and Mutations
- Prostate Cancer Treatment and Research
- Chronic Obstructive Pulmonary Disease (COPD) Research
- Nutritional Studies and Diet
- Genetic Associations and Epidemiology
- Genetic factors in colorectal cancer
- Genomic variations and chromosomal abnormalities
- Cancer Genomics and Diagnostics
- Epigenetics and DNA Methylation
- PARP inhibition in cancer therapy
- Cancer-related gene regulation
- RNA and protein synthesis mechanisms
- Genetic Mapping and Diversity in Plants and Animals
- BRCA gene mutations in cancer
- Health, Environment, Cognitive Aging
- Cancer-related molecular mechanisms research
- Genomics and Rare Diseases
- Prostate Cancer Diagnosis and Treatment
- Cancer-related Molecular Pathways
- Molecular Biology Techniques and Applications
- Nutrition, Genetics, and Disease
- Chromatin Remodeling and Cancer
- Glycosylation and Glycoproteins Research
- Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities
Louisiana State University
1995-2025
University of Illinois Chicago
2025
Louisiana State University Health Sciences Center New Orleans
2015-2024
Royal Marsden NHS Foundation Trust
2020
Institute of Cancer Research
2020
Vanderbilt University Medical Center
2020
Centre Hospitalier Universitaire Pointe-à-Pitre
2020
University Medical Center New Orleans
1995-2015
University of New Orleans
2015
University of Cincinnati
2010-2012
Prostate cancer has a strong familial component but uncovering the molecular basis for inherited susceptibility this disease been challenging. Recently, rare, recurrent mutation (G84E) in HOXB13 was reported to be associated with prostate risk. Confirmation and characterization of finding is necessary potentially translate information clinic. To examine large international sample families, we genotyped 14 other SNPs or flanking 2,443 families recruited by International Consortium Cancer...
Three recent genome-wide association studies identified associations between markers in the chromosomal region 15q24-25.1 and risk of lung cancer. We conducted a analysis to investigate single-nucleotide polymorphisms (SNPs) cancer, which we used blood DNA from 194 case patients with familial cancer 219 cancer-free control subjects. common sequence variants at (that spanned LOC123688 [a hypothetical gene], PSMA4 , CHRNA3 CHRNA5 CHRNB4 ) The was more than fivefold higher among those subjects...
To identify genetic variation associated with lung cancer risk, we performed a genome-wide association analysis of 685 cases that had family history two or more first second degree relatives compared 744 controls without were genotyped on an Illumina Human OmniExpressExome-8v1 array. ensure robust results, further evaluated these findings using data from six additional studies assembled through the Transdisciplinary Research Cancer Lung Consortium comprising 1993 familial and 33 690...
Abstract The use of tyrosine kinase inhibitors (TKI) has yielded great success in treatment lung adenocarcinomas. However, patients who develop resistance to TKI often acquire a somatic mutation (T790M) located the catalytic cleft epidermal growth factor receptor (EGFR) enzyme. Recently, report describing EGFR-T790M as germ-line suggested that this may be associated with inherited susceptibility cancer. Contrary previous reports, our analysis indicates T790M confers increased Y992 and Y1068...
Abstract Purpose: We have previously mapped a major susceptibility locus influencing familial lung cancer risk to chromosome 6q23-25. However, the causal gene at this remains undetermined. In study, we further refined identify single candidate gene, by fine mapping using microsatellite markers and association studies high-density nucleotide polymorphisms (SNP). Experimental Design: Six multigenerational families with five or more affected members were chosen for fine-mapping 6q linkage...
Although men of African ancestry have a high risk prostate cancer (PCa), no genes or mutations been identified that contribute to familial clustering PCa in this population. We investigated whether the ancestry–specific variant at 8q24, rs72725854, is enriched with family history 9052 cases, 143 cases from high-risk families, and 8595 controls ancestry. found allele be significantly associated earlier age diagnosis, more aggressive disease, (32% carried vs 23% without 12% controls). For two...
Abstract Background: Clinical, molecular, and genetic epidemiology studies displayed remarkable differences between ever- never-smoking lung cancer. Methods: We conducted a stratified multi-population (European, East Asian, African descent) association study on 44,823 ever-smokers 20,074 never-smokers to identify novel variants that were missed in the non-stratified analysis. Functional analysis including expression quantitative trait loci (eQTL) colocalization DNA damage assays, annotation...
Cigarette smoking is the major cause for lung cancer, but genetic factors also affect susceptibility. We studied families that included multiple relatives affected by cancer. Results from linkage analysis showed strong evidence a region of chromosome 6q affects cancer risk. To characterize effects this has on risk, we identified haplotype segregated with then performed Cox regression to estimate differential behaviors have risk according whether each individual carried risk-associated or...
Recent genome-wide association studies have linked the chromosome 15q24-25.1 locus to nicotine addiction and lung cancer susceptibility. To refine locus, we performed a haplotype-based analysis of 194 familial cases 219 cancer-free controls from Genetic Epidemiology Lung Cancer Consortium (GELCC) collection, used proliferation apoptosis analyses determine which gene(s) in mediates effects on cell growth vitro. We identified two distinct subregions, hapL (P = 3.20 x 10(-6)) hapN 1.51 10(-6)),...
Abstract Recent studies suggest that rare variants exhibit stronger effect sizes and might play a crucial role in the etiology of lung cancers (LC). Whole exome plus targeted sequencing germline DNA was performed on 1045 LC cases 885 controls discovery set. To unveil inherited causal variants, we focused predicted deleterious small indels enriched or controls. Promising candidates were further validated series 26,803 LCs 555,107 During discovery, identified 25 associated with susceptibility,...
The Notch signaling pathway is a highly conserved that regulates cell fate and differentiation in multicellular organisms. plays vital role tumor angiogenesis. Notch1 broadly expressed throughout the body, preclinical studies demonstrate targeting limits vessel perfusion. However, blockade has been linked to gastric toxicity tissue hypoxia, impeding pharmaceutical development of antagonists. In contrast, Notch4 primarily vascular endothelium known be upregulated human patients with...
Abstract The Notch developmental pathway regulates cell fate in tumor angiogenesis and influences immune phenotypes the microenvironment (TME). While receptors Notch1-3 have been extensively studied, role of Notch4 is poorly understood. Previous efforts to target signaling limited by broad expression their cognate ligands, leading significant gastrointestinal toxicity. However, thought be expressed primarily endothelium, making it a highly specific and, therefore, more attractive candidate...
Background: Rare, functionally deleterious genetic variants have been implicated as having substantially larger effect sizes than common variants, potentially accounting for much of the missing heritability in lung cancer (LC). Over 25 years, Genetic Epidemiology LC Consortium (GELCC) has curated an invaluable resource specimens and data from individuals with a strong family history LC. Methods: Whole-genome exome sequencing were analyzed 129 high-risk familial (FLC) families, defined two...
Little is known about the impact of cancer genetic counseling and testing on health behaviors in racial ethnic subgroups. This prospective observational study examined use risk reduction strategies following BRCA1 testing. Participants were female members an African American kindred who received education, (n = 40) completed a 1-year follow-up interview. Mutation carriers more likely to opt for breast (100%, 7/7) ovarian (25%; 1 4) surveillance than prophylactic surgery. Following...
Abstract In this study, we observed loss of heterozygosity (LOH) in human chromosomal fragment 6q25.1 sporadic lung cancer patients. LOH was 65% the 26 tumors examined and narrowed down to a 2.2-Mb region. Single-nucleotide polymorphism (SNP) analysis genes located within region identified candidate gene, termed p34. This also designated as ZC3H12D, C6orf95, FLJ46041, or dJ281H8.1, carries an A/G nonsynonymous SNP at codon 106, which alters amino acid from lysine arginine. Nearly 73%...
Abstract BACKGROUND Numerous studies have examined short‐term and long‐term psychologic responses to genetic testing for breast/ovarian carcinoma susceptibility in clinic samples among families who participated linkage studies. However, the authors' knowledge, vast majority of focused on non‐Latino whites women. In this prospective study, authors investigated impact receiving carrier‐specific BRCA1 test results as part a education/counseling intervention female male members an...