A5015791364- Renal and related cancers
- Uterine Myomas and Treatments
- Cancer Genomics and Diagnostics
- Genetic factors in colorectal cancer
- Autism Spectrum Disorder Research
- Genetic Syndromes and Imprinting
- BRCA gene mutations in cancer
- Neurogenetic and Muscular Disorders Research
- RNA Research and Splicing
- Congenital heart defects research
- Muscle Physiology and Disorders
- Genetics and Neurodevelopmental Disorders
- RNA modifications and cancer
- Cardiomyopathy and Myosin Studies
- Genomics and Rare Diseases
- Adrenal and Paraganglionic Tumors
- Colorectal Cancer Treatments and Studies
- Genomic variations and chromosomal abnormalities
- Cancer, Hypoxia, and Metabolism
- Cancer-related molecular mechanisms research
- DNA Repair Mechanisms
- RNA regulation and disease
- Pituitary Gland Disorders and Treatments
- RNA and protein synthesis mechanisms
- Renal cell carcinoma treatment
Brigham and Women's Hospital
2022-2025
University Hospital Centre Zagreb
2024
University of Zagreb
2024
Children's Hospital Zagreb
2024
Rudjer Boskovic Institute
2024
Background: Intellectual developmental disorder with autism and speech delay (IDDAS) is a rare complex neurological characterized by the presence of both intellectual impairment features spectrum (ASD). The prevalence IDDAS unknown but genetically, it caused heterozygous variants in TBR1 gene. Methods: A 7-year-old female autistic delayed development was presented unaffected parents. Trio-joint analysis conducted on whole-genome sequencing (WGS) data from proband phenotype-driven to...
Abstract Objective Turkish genome is underrepresented in large genomic databases. This study aims to evaluate the effect of allele frequency population determining clinical utility germline findings breast cancer, including invasive lobular carcinoma (ILC), mixed ductal and (IDC‐L), (DC). Methods Two clinic‐based cohorts from Umraniye Research Training Hospital (URTH) were used this study: a cohort consisting 132 women with cancer non‐cancer 492 participants. The evaluation landscape was...
Standard methods of variant assessment in hereditary cancer susceptibility genes are limited by the lack availability key supporting evidence. In cancer, information derived from tumors can serve as a useful source delineating tumor behavior and role germline variants progression. We have previously demonstrated value integrating findings to comprehensively assess syndromes. Building on this work, herein, we present development application INT
Purpose: Investigation for the co-occurrence of two unrelated genetic disorders muscular dystrophy and Prader-Willi syndrome (PWS) (OMIM # 176270) using joint whole genome sequencing (WGS). Methods: Trio WGS analysis was performed to investigate etiology in a proband with PWS, prolonged hypotonia associated hyperCKemia, early-onset obesity. The parents were unaffected. Results: Results showed maternal isodisomy uniparental disomy (UPD) chromosome 15 expanding from 15q11.2 15q22.2, including...
An investigation for the co-occurrence of two unrelated genetic disorders muscular dystrophy and Prader-Willi syndrome (PWS) (OMIM#176270) using joint whole genome sequencing (WGS). Trio WGS analysis was performed to investigate etiology in a proband with PWS, prolonged hypotonia associated hyperCKemia, early-onset obesity. The parents were unaffected. Results showed maternal isodisomy uniparental disomy (UPD) chromosome 15, expanding from 15q11.2 15q22.2, including PWS regions at...
Abstract Women with germline pathogenic variants (PV) in the fumarate hydratase (FH) gene develop cutaneous and uterine leiomyomata have an increased risk of developing aggressive renal cell carcinomas. Many these women are unaware their cancer predisposition until atypical leiomyoma is diagnosed during a myomectomy or hysterectomy, making streamlined genetic counseling process after pathology-based diagnosis critical. However, prevalence pathogenic/likely PVs FH among cases unknown. To...
Smith-Magenis syndrome is a complex neurobehavioral genetic disorder. The spectrum of SMS phenotype broad but commonly includes craniofacial, neurobehavioral, and otolaryngologic features. While the etiology attributed to one copy interstitial deletion in 17p11.2 region (90-95% cases), variants identified by sequence analysis RAI1 have also been reported 5-10% cases. phenotypic patients with alterations not clear. In this study, we report 9-year-old male global cognitive psychomotor...
Genomic profiles of tumors are often unique and represent characteristic mutational signatures defined by DNA damage or repair response processes. The tumor-derived somatic information has been widely used in therapeutic applications, but it is grossly underutilized the assessment germline genetic variants. Here, we present a comprehensive approach for evaluating pathogenicity variants cancer using an integrated interpretation genomic data. We have previously demonstrated utility this...
The interpretation of hereditary genetic sequencing variants is often limited due to the absence functional data and other key evidence assess role in disease. Cancer genetics unique, as two sets genomic information are available from a cancer patient: somatic germline. Despite progress made integrated analysis germline findings, assessment pathogenicity high penetrance genes remains grossly underutilized. Indeed, standard ACMG/AMP guidelines for interpreting sequence do not address derived...
The presence of variants uncertain significance (VUS) in DNA mismatch repair (MMR) genes leads to uncertainty the clinical management patients being evaluated for Lynch syndrome (LS). Currently, there is no platform systematically use tumor-derived evidence alongside germline data assessment VUS relation LS. We developed INT 2 GRATE (INTegrated INTerpretation GeRmline And Tumor gEnomes) leverage information from tumor genome inform potential role constitutional MMR genes. has two components:...
<div>Abstract<p>Women with germline pathogenic variants (PV) in the <i>fumarate hydratase</i> (<i>FH</i>) gene develop cutaneous and uterine leiomyomata have an increased risk of developing aggressive renal cell carcinomas. Many these women are unaware their cancer predisposition until atypical leiomyoma is diagnosed during a myomectomy or hysterectomy, making streamlined genetic counseling process after pathology-based diagnosis critical. However,...
<p>Supplementary Materials and Methods</p>
<div>Abstract<p>Women with germline pathogenic variants (PV) in the <i>fumarate hydratase</i> (<i>FH</i>) gene develop cutaneous and uterine leiomyomata have an increased risk of developing aggressive renal cell carcinomas. Many these women are unaware their cancer predisposition until atypical leiomyoma is diagnosed during a myomectomy or hysterectomy, making streamlined genetic counseling process after pathology-based diagnosis critical. However,...
<p>Supplementary Materials and Methods</p>
<p>Supplementary Materials and Methods</p>
<p>Supplementary Materials and Methods</p>
BACKGROUND Neurodevelopmental disorders (NDD) are umbrella that encompass global developmental delay (GDD), intellectual disability, autism spectrum disorders, motor and sleep disorders. Both GDD disorder common yet clinically genetically heterogeneous Despite their high prevalence the advent of sequencing detection methods, genomic etiology in most patients is largely unknown. CASE REPORT In this study, we describe a 6-year-old girl with GDD, autistic features, structural brain...
Smith-Magenis syndrome is a complex neurobehavioral genetic disorder with broad phenotypic spectrum. While the etiology of SMS commonly attributed to one-copy interstitial deletion in 17p11.2 region (90-95% cases), variants identified by sequence analysis
The phenotypic spectrum of