Aalin Izhar
A5021952082- DNA Repair Mechanisms
- Genetic factors in colorectal cancer
- Genomics and Rare Diseases
- Cancer Genomics and Diagnostics
- RNA modifications and cancer
- PARP inhibition in cancer therapy
- Lymphoma Diagnosis and Treatment
- BRCA gene mutations in cancer
- Cancer Diagnosis and Treatment
- Molecular Biology Techniques and Applications
- Adrenal Hormones and Disorders
- Sexual Differentiation and Disorders
- Genetic Associations and Epidemiology
- Genetics, Bioinformatics, and Biomedical Research
- Hormonal and reproductive studies
- Biological Research and Disease Studies
- CRISPR and Genetic Engineering
- Chronic Lymphocytic Leukemia Research
Memorial Sloan Kettering Cancer Center
2022-2023
Kettering University
2023
To explore the role of NBN as a pan-cancer susceptibility gene.
Abstract BACKGROUND: Multiple Myeloma (MM) is an incurable disease with no known germline high penetrant risk gene. The higher of MM among affected relatives suggests a genetic contribution to the etiology. To date, 24 common variants low effect sizes were identified using genome-wide association studies, which account for 17% heritability. However, systematic analysis rare alleles in cancer predisposition genes has not been undertaken so far MM. We collaborated six other academic centers...
<p>Supplementary Figure S5. Cancer types diagnosed in the carriers of germline NBN variants found to be enriched cases compared controls. Information about somatic loss heterozygosity (LOH) is included. NSCLC: NonSmall Cell Lung Cancer, CUP, Unknown Primary.</p>
<p>Supplementary Figure S3. Rates of somatic loss heterozygosity (LOH) stratified by cancer type. NSCLC: NonSmall Cell Lung Cancer, CRC: Colorectal Cancer.</p>
<p>Supplementary Figure S4. Alternative somatic second hit analysis.</p>
<p>Supplementary Figure S1. Germline and somatic data from The Cancer Genome Atlas (TCGA) project, representing 10,268 cancer patients with whole exome sequencing data.</p>
<p>Supplementary Figure S2. Rates of somatic loss heterozygosity (LOH) in carriers germline variants the MRN complex genes as classified by A) PathoMAN and B) according to variant type</p>
<p>Supplementary Figure S6. Co-segregation study in families with missense variants identified >34,000 patients (MSKCC) for which samples from relatives were available.</p>
<p>Supplementary Figure S7. NBN Multi-species protein alignment.</p>
<p>Supplementary Figure S6. Co-segregation study in families with missense variants identified >34,000 patients (MSKCC) for which samples from relatives were available.</p>
<p>Supplementary Figure S3. Rates of somatic loss heterozygosity (LOH) stratified by cancer type. NSCLC: NonSmall Cell Lung Cancer, CRC: Colorectal Cancer.</p>
<p>Supplementary Figure S4. Alternative somatic second hit analysis.</p>
<p>Supplementary Figure S7. NBN Multi-species protein alignment.</p>
<p>Supplementary Figure S5. Cancer types diagnosed in the carriers of germline NBN variants found to be enriched cases compared controls. Information about somatic loss heterozygosity (LOH) is included. NSCLC: NonSmall Cell Lung Cancer, CUP, Unknown Primary.</p>
<p>Supplementary Figure S2. Rates of somatic loss heterozygosity (LOH) in carriers germline variants the MRN complex genes as classified by A) PathoMAN and B) according to variant type</p>
<p>Supplementary Figure S1. Germline and somatic data from The Cancer Genome Atlas (TCGA) project, representing 10,268 cancer patients with whole exome sequencing data.</p>
<div>AbstractPurpose:<p>To explore the role of <i>NBN</i> as a pan-cancer susceptibility gene.</p>Experimental Design:<p>Matched germline and somatic DNA samples from 34,046 patients were sequenced using Memorial Sloan Kettering-Integrated Mutation Profiling Actionable Cancer Targets presumed pathogenic variants (PGV) identified. Allele-specific gene-centered analysis enrichment was conducted validation cohort 26,407 analyzed. Functional studies utilized...
<div>AbstractPurpose:<p>To explore the role of <i>NBN</i> as a pan-cancer susceptibility gene.</p>Experimental Design:<p>Matched germline and somatic DNA samples from 34,046 patients were sequenced using Memorial Sloan Kettering-Integrated Mutation Profiling Actionable Cancer Targets presumed pathogenic variants (PGV) identified. Allele-specific gene-centered analysis enrichment was conducted validation cohort 26,407 analyzed. Functional studies utilized...
Abstract Objective Bolstered by an N-of-1 study design, precision medicine proactively predicts and reverses chronic disease, thereby extending the healthspan. An essential element to this approach is maintaining quality of life despite age. Adult males commonly report a decline in sexual function libido, which can be triggered 1-3% testosterone beginning their thirties. Our collection, integration, interpretation longitudinal data on men revealed symptoms emerging even earlier due other...