A5086030597- Genetic factors in colorectal cancer
- Multiple and Secondary Primary Cancers
- BRCA gene mutations in cancer
- Genomics and Rare Diseases
- Genetics and Neurodevelopmental Disorders
- Genomic variations and chromosomal abnormalities
- Cancer Genomics and Diagnostics
- Cancer and Skin Lesions
- Epigenetics and DNA Methylation
- Colorectal Cancer Surgical Treatments
- Colorectal and Anal Carcinomas
- Tumors and Oncological Cases
- Hedgehog Signaling Pathway Studies
- RNA regulation and disease
- Cancer Mechanisms and Therapy
- Cancer Risks and Factors
- Lipid metabolism and biosynthesis
- Healthcare Systems and Technology
- Metastasis and carcinoma case studies
- Pancreatic and Hepatic Oncology Research
- Health, Environment, Cognitive Aging
- Data-Driven Disease Surveillance
- RNA Research and Splicing
- Congenital heart defects research
- Clinical practice guidelines implementation
Dr. John T. Macdonald Foundation
2022-2025
University of Miami
2022-2025
Jackson Memorial Hospital
2024
The University of Texas Southwestern Medical Center
2015-2016
Southwestern Medical Center
2015
Abstract The occurrence of multiple primary cancers (MPC) is thought to reflect increased cancer susceptibility in patients due a combination genetic and environmental factors. Here we conducted retrospective review 2,894 consecutive evaluated at single institution identified 31 (1.14%) individuals with history three or more cancers, then analyzed the influences associated their propensity for developing malignancies. We found that 35.5% had hereditary syndrome (HCS), high penetrance HCS...
// Agnieszka K. Witkiewicz 1,2 , Nicholas A. Borja 3 Jorge Franco 1 Jonathan R. Brody 4 Charles J. Yeo 5 John Mansour 2,3 Michael Choti Peter McCue and Erik S. Knudsen Department of Pathology, UT Southwestern Medical Center, Dallas, TX, USA 2 Simmons Cancer Surgery, Thomas Jefferson University, Philadelphia, PA, Correspondence to: Witkiewicz, email: Knudsen, Keywords : CDK4/6, pancreatic cancer, PD-0332991, patient-derived xenograft, tumor explant Received February 05, 2015 Accepted March...
Abstract Bryant-Li-Bhoj syndrome (BLBS), which became OMIM-classified in 2022 (OMIM: 619720, 619721), is caused by germline variants the two genes that encode histone H3.3 ( H3-3A / H3F3A and H3-3B H3F3B ) [1–4]. This characterized developmental delay/intellectual disability, craniofacial anomalies, hyper/hypotonia, abnormal neuroimaging [1, 5]. BLBS was initially categorized as a progressive neurodegenerative de novo heterozygous either or Here, we analyze data of 58 previously published...
The mechanistic pathways that give rise to the extreme symptoms exhibited by rare disease patients are complex, heterogeneous, and difficult discern. Understanding these mechanisms is critical for developing treatments address underlying causes of diseases rather than merely presenting symptoms. Moreover, same dysfunctional series interrelated implicated in recessive may also lead milder potentially preventable carriers general population. Seizures a common phenotype can result from diverse...
Abstract Triple‐negative breast cancer (TNBC) is an uncommon but aggressive subtype of cancer. Obesity has been associated with increased risk and worse prognosis. Some studies suggest that obese patients are less likely to achieve pathologic complete response ( pCR ) neoadjuvant chemotherapy (NCT) experience overall survival. Ki‐67 a proliferation marker correlates tumor aggressiveness. The goal this study was examine the impact weight change during NCT for TNBC on reduction. Retrospective...
Heterozygous, loss-of-function germline variants in ATM have been associated with an increased lifetime risk of breast, pancreas, prostate, stomach, ovarian, colorectal, and melanoma cancers. We conducted a retrospective review thirty-one unrelated patients found to be heterozygous for pathogenic variant identified significant proportion this cohort cancers not currently the hereditary cancer syndrome, including carcinomas gallbladder, uterus, duodenum, kidney, lung as well vascular sarcoma....
KIF21A encodes a kinesin motor protein associated with isolated congenital fibrosis of the extraocular muscles (CFEOM), which occurs when autoinhibitory interaction between its and third coiled-coil domains is disrupted. In this study, we describe female child who heterozygous for novel de novo missense variant in p.Leu664Pro, located second domain that was absent her unaffected parents healthy population cohorts. She presented progressive peripheral neuropathy, hypoplasia corpus callosum...
Abstract Neurodegenerative disorders and leukodystrophies are progressive neurologic conditions that can occur following the disruption of intricately coordinated patterns gene expression. Exome sequencing has been adopted as an effective diagnostic tool for determining underlying genetic etiology Mendelian disorders, however genome offer advantages in its ability to identify characterize copy number, structural, sequence variants noncoding regions. Genome from peripheral leukocytes was...
Raine syndrome (RS) is an autosomal recessive disorder characterized by distinctive facial dysmorphisms and generalized osteosclerosis of periosteal bone causing exophthalmos, choanal atresia or stenosis, intracranial calcifications. The caused biallelic loss-of-function variants in FAM20C located on chromosome 7p22.3. ubiquitously expressed protein kinase. that contains five functional domains including a catalytic domain, binding pocket for FAM20A three distinct N-glycosylation sites. With...
Undiagnosed diseases present unique clinical management challenges due to their rarity and complexity. Approximately eighty percent of undiagnosed are thought have a genetic etiology. Historically, methods assist in diagnosing individuals included whole exome genome sequencing (WES/WGS). However, these tests been more accessible pediatric patients with diseases. A major barrier for adults seeking WES/WGS includes the cost difficulty receive insurance reimbursement.
ABSTRACT Rare diseases affect 6%–8% of the population and present diagnostic challenges, particularly for historically marginalized ethnic racial groups. The Undiagnosed Diseases Network (UDN) aims to enhance diagnosis rates research participation among such minoritized A retrospective review was conducted from 2015 2023, analyzing 2235 UDN participants evaluate its progress toward this objective. Data on demographics, disease phenotypes, outcomes, socioeconomic factors were collected...
Abstract Recurrent de novo missense variants in H4 histone genes have recently been associated with a novel neurodevelopmental syndrome that is characterized by intellectual disability and developmental delay as well more variable findings include short stature, microcephaly, facial dysmorphisms. A 4‐year‐old male autism, delay, happy demeanor underwent evaluation through the Undiagnosed Disease Network. He was clinically suspected to Angelman syndrome; however, molecular testing negative....
ATP1A1 encodes a sodium-potassium ATPase that has been linked to several neurological diseases. Using exome and genome sequencing, we identified the heterozygous variant NM_000701.8: c.2707G>A;p.(Gly903Arg) in two unrelated children presenting with delayed motor speech development autism. While absent controls, occurred de novo one proband co-segregated affected half-siblings, mosaicism healthy mother. specific ouabain resistance assay mutant transfected HEK cells, found significantly...
<div>Abstract<p>The occurrence of multiple primary cancers (MPC) is thought to reflect increased cancer susceptibility in patients due a combination genetic and environmental factors. Here we conducted retrospective review 2,894 consecutive evaluated at single institution identified 31 (1.14%) individuals with history three or more cancers, then analyzed the influences associated their propensity for developing malignancies. We found that 35.5% had hereditary syndrome (HCS), high...