A5067842560- Genetic factors in colorectal cancer
- Cancer Genomics and Diagnostics
- Ovarian cancer diagnosis and treatment
- BRCA gene mutations in cancer
- Colorectal Cancer Screening and Detection
- Multiple and Secondary Primary Cancers
- DNA Repair Mechanisms
- Genetic Neurodegenerative Diseases
- Pancreatic and Hepatic Oncology Research
- Gastric Cancer Management and Outcomes
- Colorectal Cancer Treatments and Studies
- Neurological disorders and treatments
- Cholangiocarcinoma and Gallbladder Cancer Studies
- Helicobacter pylori-related gastroenterology studies
- Genomic variations and chromosomal abnormalities
- Mitochondrial Function and Pathology
- Colorectal and Anal Carcinomas
- PARP inhibition in cancer therapy
Memorial Sloan Kettering Cancer Center
2020-2025
Cornell University
2022-2025
Kettering University
2024
The Ohio State University
2020-2023
Vita-Salute San Raffaele University
2023
Istituti di Ricovero e Cura a Carattere Scientifico
2023
Importance Microsatellite (MS) instability (MSI-H) occurs frequently in Lynch syndrome (LS)–associated tumors and is associated with response to immune checkpoint blockade (ICB) therapy. MSI-H conferred by germline or somatic variants mismatch repair genes. The contribution of oncogenesis pancreatic cancer (PC) unknown. Objective To evaluate an LS-related PC cohort define clinicogenomic features, describe cases (germline negative), characterize ICB, guide preferred MS testing methods....
While genetic factors were associated with over 30% of colorectal cancer (CRC) patients, mutations in CRC-susceptibility genes identified only 5% to 10% these patients. Besides, previous studies on hereditary CRC largely designed analyze germline patients single high-risk factor, which limited understanding the association between genotype and phenotypes. From January 2015 December 2018, we retrospectively enrolled 2,181 from 8,270 consecutive cases, covering 5 categories factors. Leukocyte...
Purpose: The age to initiate colonoscopy in MSH6 / PMS2 -associated Lynch Syndrome (LS) remains uncertain. Herein we characterize findings among young individuals with LS. Methods: Retrospective review of a multi-institutional cohort MSH6/PMS2 -LS undergoing prior 50 was performed. Neoplastic lesions were defined as colorectal cancer (CRC), adenomas, or non-hyperplastic serrated lesions. Results: Among 285 [161 (56%) ; 124 (44%) ], 125 had neoplastic finding inclusive 53 (19%) CRC [32 (20%)...
We sought to determine the prevalence of germline pathogenic variants (gPVs) in unselected patients with endometrial cancer (EC), define biallelic gPVs within tumors, and describe their associations clinicopathologic features.
PURPOSE Lynch syndrome (LS)–associated colorectal cancer (CRC) is characterized by mismatch repair-deficiency (MMR-D) and/or microsatellite instability (MSI). However, with increasing utilization of germline testing, MMR-proficient (MMR-P) stable (MSS) CRC has also been observed. We sought to characterize MMR-P/MSS among patients LS. METHODS Patients solid tumors MMR pathogenic/likely pathogenic (P/LP) variants were identified on a prospective matched tumor-normal next-generation sequencing...
Huntington's disease is associated with motor, cognitive and behavioral dysfunction. Behavioral symptoms may present before, after, or simultaneously clinical manifestation. The relationship between age of onset symptom presentation severity was explored using the Enroll-HD database. Manifest individuals (n = 4469) were initially divided into three groups for preliminary analysis: early (<30 years; n 479); mid-adult (30-59 3478); late (>59 512). Incidence reported at highest in those 26%...
NTHL1 and MSH3 have been implicated as autosomal recessive cancer predisposition genes. Although individuals with biallelic pathogenic variants (PVs) increased polyposis risk, risks for monoallelic carriers are uncertain. We sought to assess the prevalence characterize from a large pan-cancer patient population.Patients (n = 11,081) underwent matched tumor-normal sequencing consent germline analysis. Medical records tumors were reviewed analyzed. Prevalence of PVs was compared reference...
Investigators at MSKCC highlight a novel surgical approach to manage GAPPS.
Gastroesophageal junction (GEJ) adenocarcinoma is a rare cancer associated with poor prognosis. The genetic factors conferring predisposition to GEJ have yet be identified.We analyzed germline testing results from 23 381 patients undergoing tumor-normal sequencing, of which 312 individuals had adenocarcinoma. Genomic profiles and clinico-pathologic features were for the adenocarcinomas. Silencing ATM ATR was performed using validated short-interfering RNA species in GEJ, esophageal, gastric...
Article Tools CASE REPORTS OPTIONS & TOOLS Export Citation Track Add To Favorites Rights Permissions COMPANION ARTICLES No companion articles ARTICLE CITATION DOI: 10.1200/PO.21.00560 JCO Precision Oncology no. 6 (2022) e2100560. Published online June 8, 2022. PMID: 35675575 Concurrent Germline BRCA1/2 and Mismatch Repair Mutations in Young-Onset Pancreatic Colorectal Cancer: The Importance of Comprehensive Somatic Characterization to Inform Therapeutic Options Muhammet Ozer , MD1xMuhammet...
Abstract Background: Lynch syndrome (LS) is a pan-cancer predisposition caused by pathogenic germline alterations (gPVs) in DNA mismatch repair genes (PMS2, MSH6, MLH1, MSH2, EPCAM). It characterized microsatellite instability (MSI)/deficient (dMMR) of associated tumors, which predicts immune checkpoint blockade (ICB) response. Clinical and molecular features LS-PDAC are not well defined. Herein we sought to describe clinical characteristics, MSI prevalence, ICB Methods: Patients (pts) with...
1527 Background: PMS2-associated Lynch syndrome (LS) may have a more modest phenotype than that associated with other mismatch repair (MMR) genes ( MLH1, MSH2, MSH6, EPCAM). Recent studies suggest limited extra-colonic cancers, and modified risk-reducing measures can be provided. Understanding the spectrum of risk is critical importance as some LS-associated cancers do not effective screening, requiring surgery (endometrial, ovarian). As MMR-deficiency (MMRD)/ microsatellite instability...
10516 Background: Lynch syndrome (LS) is the most common colorectal cancer (CRC) predisposition syndrome. While patients (pts) with MLH1/ MSH2-associated LS are recommended to start colonoscopy between age 20-25, recent guidelines recommend delaying initiation in pts MSH6/ PMS2-associated 30-35. However, data on findings from colonic surveillance young PMS2-LS limited. Methods: We performed a retrospective review of multi-institutional cohort who underwent any prior 50, and assessed...
10517 Background: LS, caused by germline pathogenic variants in DNA mismatch repair genes ( MLH1, MSH2, MSH6, PMS2, EPCAM), is characterized near universal microsatellite instability (MSI) /mismatch deficiency (dMMR) of associated tumors. Accurate MSI/dMMR assessment critical to determine immune checkpoint blockade (ICB) eligibility but discordant MSI and immunohistochemical analysis MMR status (IHC) described. We sought characterize MSS tumors LS pts. Methods: Cancer-affected pts consented...
Abstract Background: Colorectal cancer (CRC) is one of the most common malignancies globally with estimated 1.87 million new cases annually. Genetic factors were associated over 30% CRC incidence. However, mutations in CRC-susceptibility genes recommended by National Comprehensive Cancer Network (NCCN) guidelines accounted for only 5-10% cases, suggesting a large proportion remain unknown. As previous works on hereditary largely designed to analyze germline patients single category genetic...
10516 Background: Recently updated NCCN guidelines for management of germline MSH6 and PMS2 pathogenic/likely pathogenic (P/LP) variant carriers suggest a more modest phenotype with later onset colorectal cancer (CRC) limited extra-colonic cancers compared to other Lynch Syndrome (LS) genes. However, data are limited, comprehensive understanding the risk spectrum age is critical screening risk-reduction. We sought characterize PMS2-associated diagnosis in those mismatch repair deficient...