A5010157426- Pancreatic and Hepatic Oncology Research
- BRCA gene mutations in cancer
- Cancer Genomics and Diagnostics
- Parathyroid Disorders and Treatments
- Epigenetics and DNA Methylation
- Protein Tyrosine Phosphatases
- Genomic variations and chromosomal abnormalities
- Genomics and Rare Diseases
- Genetics and Neurodevelopmental Disorders
- N-Heterocyclic Carbenes in Organic and Inorganic Chemistry
- Trypanosoma species research and implications
- RNA modifications and cancer
- PI3K/AKT/mTOR signaling in cancer
- Colorectal Cancer Screening and Detection
- Mitochondrial Function and Pathology
- Global Cancer Incidence and Screening
- Galectins and Cancer Biology
- Brain Metastases and Treatment
- Glycogen Storage Diseases and Myoclonus
- Telomeres, Telomerase, and Senescence
- Cutaneous Melanoma Detection and Management
- melanin and skin pigmentation
- Glioma Diagnosis and Treatment
- Diet and metabolism studies
- Chromatin Remodeling and Cancer
University of Arizona
2022-2024
Division of Cancer Epidemiology and Genetics
2022-2023
National Institutes of Health
2020-2023
National Cancer Institute
2021-2023
National Human Genome Research Institute
2020-2022
Metropolitan Hospital Center
2017
Patients with germline pathogenic variants (GPV) in cancer predisposition genes are at increased risk of pancreatic ductal adenocarcinoma (PDAC), the most common type cancer. The frequently found to harbor GPV unselected PDAC cases ATM, BRCA1, BRCA2, CDKN2A, CHEK2, and PALB2. However, prevalence gene-specific associations have not been extensively studied general population. To further explore these associations, we analyzed genomic phenotypic data obtained from UK Biobank (UKB) Geisinger...
Spitzoid morphology in familial melanoma has been associated with germline variants
Importance Knowledge about the prevalence and tumor types of CDKN2A -related melanoma-astrocytoma syndrome (MAS) is limited could improve disease recognition. Objective To estimate describe MAS. Design, Setting, Participants This retrospective cohort study analyzed all available MAS cases from medical centers in US (2 sites) Europe biomedical population genomic databases (UK Biobank [United Kingdom], Geisinger MyCode [US]) between January 1, 1976, December 31, 2020. Patients with germline...
Glutaric acidemia type 2 (GA2), also called multiple acyl-CoA dehydrogenase deficiency, is an autosomal recessive disorder of fatty acid, amino and choline metabolism resulting in excretion organic acids glycine conjugates as well elevation various plasma acylcarnitine species (C4-C18). It caused by mutations the ETFA, ETFB, or ETFDH genes which are involved transfer electrons from 11 flavin-containing dehydrogenases to Coenzyme Q10 (CoQ10 ) mitochondrial electron transport chain (ETC). We...
PURPOSE Pancreatic ductal adenocarcinoma (PDAC) is a component of familial melanoma due to germline pathogenic variants (GPVs) in CDKN2A. However, it unclear what role this gene or other genes play its etiology. MATERIALS AND METHODS We analyzed 189 cancer predisposition using parametric rare-variant association (RVA) tests and nonparametric permutation identify gene-level associations PDAC for patients with ( CDKN2A +) without CDKN2A–) GPV. Exome sequencing was performed on 84 PDAC, 47...
Abstract Disclosure: R. Cardenas: None. S. Tariq: Habibi: N. Ebrahimi: E. Astiazaran-Symonds: Background: Primary hyperparathyroidism (PHPT) is a common endocrine disease, causes include: parathyroid adenomas (80-85%), hyperplasia (10-15%), atypical (APA) (1.2 %) and carcinomas (PC) (1%). APA share many anatomic histopathologic features with PC making the distinction between two challenging. Although most are sporadic, some caused by germline mutations in CDC73 gene, which associated...
Abstract Disclosure: R. Cardenas: None. S. Tariq: Habibi: N. Ebrahimi: E. Astiazaran-Symonds: Background: Primary hyperparathyroidism (PHPT) is a common endocrine disease, causes include: parathyroid adenomas (80-85%), hyperplasia (10-15%), atypical (APA) (1.2 %) and carcinomas (PC) (1%). APA share many anatomic histopathologic features with PC making the distinction between two challenging. Although most are sporadic, some caused by germline mutations in CDC73 gene, which associated...
Abstract Purpose Genomic ascertainment of electronic health record-linked exome data in two large biobanks was used to quantify germline pathogenic/likely pathogenic (P/LP) variant prevalence, cancer and survival adults with non- NF1 RAS/mitogen-activated protein kinase genes (RASopathies). Patients Methods Germline RASopathy variants were examined from adult participants UK Biobank (UKBB; n=469,802), Geisinger MyCode (n=167,050) Mount Sinai Bio Me (n=30,470). Variants classified as per...