Tomas Kirchhoff
A5014927059- BRCA gene mutations in cancer
- Cancer Immunotherapy and Biomarkers
- Melanoma and MAPK Pathways
- Immunotherapy and Immune Responses
- Cutaneous Melanoma Detection and Management
- Genetic Associations and Epidemiology
- Cancer Genomics and Diagnostics
- CAR-T cell therapy research
- Nutrition, Genetics, and Disease
- DNA Repair Mechanisms
- vaccines and immunoinformatics approaches
- Genetic factors in colorectal cancer
- Genomic variations and chromosomal abnormalities
- Genetics, Bioinformatics, and Biomedical Research
- Epigenetics and DNA Methylation
- CRISPR and Genetic Engineering
- Genomics and Chromatin Dynamics
- Monoclonal and Polyclonal Antibodies Research
- Microtubule and mitosis dynamics
- Immune Cell Function and Interaction
- Cancer-related Molecular Pathways
- Computational Drug Discovery Methods
- Ovarian cancer diagnosis and treatment
- Lymphoma Diagnosis and Treatment
- Viral Infectious Diseases and Gene Expression in Insects
New York University
2015-2025
Eastern Cooperative Oncology Group
2015-2024
NYU Langone Health
2012-2024
NYU Langone’s Laura and Isaac Perlmutter Cancer Center
2015-2022
Hinge Health
2022
U-M Rogel Cancer Center
2019
Universität Greifswald
2015
Memorial Sloan Kettering Cancer Center
2004-2013
American Cancer Society
2012
Cancer Genetics (United States)
2009-2012
We performed a three-phase genome-wide association study (GWAS) using cases and controls from genetically isolated population, Ashkenazi Jews (AJ), to identify loci associated with breast cancer risk. In the first phase, we compared allele frequencies of 150,080 SNPs in 249 high-risk, BRCA1/2 mutation-negative AJ familial 299 cancer-free chi(2) Cochran-Armitage trend tests. second genotyped 343 123 regions most significantly stage 1, including 4 FGFR2 region, 950 consecutive 979 age-matched...
Abstract Purpose: Increased prostate cancer risk has been reported for BRCA mutation carriers, but BRCA-associated clinicopathologic features have not clearly defined. Experimental Design: We determined prevalence in 832 Ashkenazi Jewish men diagnosed with localized between 1988 and 2007 454 controls compared clinical outcome measures among 26 carriers 806 noncarriers. Kruskal-Wallis tests were used to compare age of diagnosis Gleason score, logistic regression models determine associations...
Abstract The importance of the p53 stress response pathway in suppression tumor formation is well documented. In a previous report, single nucleotide polymorphism (SNP309 T/G) was found promoter MDM2 gene resulting higher levels RNA and protein and, consequently, attenuation both vitro vivo. As SNP309 locus region promoter, which regulated by hormonal signaling pathways, G-allele increases affinity well-described cotranscriptional activator nuclear hormone receptors (i.e., Sp1), hypothesis...
Genomic instability is a hallmark of cancer and featured prominently in Bloom syndrome. syndrome, the prototype somatic mutational disorders, rare autosomal recessive disorder characterized by profound predisposition to cancer. syndrome caused inactivating, germline
The considerable uncertainty regarding cancer risks associated with inherited mutations of BRCA2 is due to unknown factors. To investigate whether common genetic variants modify penetrance for mutation carriers, we undertook a two-staged genome-wide association study in carriers. In stage 1 using the Affymetrix 6.0 platform, 592,163 filtered SNPs genotyped were available on 899 young (<40 years) affected and 804 unaffected carriers European ancestry. Associations evaluated survival-based...
Immune checkpoint inhibitors (anti-CTLA-4, anti-PD-1, or the combination) enhance anti-tumor immune responses, yielding durable clinical benefit in several cancer types, including melanoma. However, a subset of patients experience immune-related adverse events (irAEs), which can be severe and result treatment termination. To date, no biomarker exists that predict development irAEs. We hypothesized pre-treatment antibody profiles identify who possess sub-clinical autoimmune phenotype...
Common genetic variants contribute to the observed variation in breast cancer risk for BRCA2 mutation carriers; those known date have all been found through population-based genome-wide association studies (GWAS). To comprehensively identify modifying loci carriers, we conducted a deep replication of an ongoing GWAS discovery study. Using ranked P-values associations with imputed genotype 1.4 M SNPs, 19,029 SNPs were selected and designed inclusion on custom Illumina array that included...
Abstract Background Two primary histologic subtypes, superficial spreading melanoma (SSM) and nodular (NM), comprise the majority of all cutaneous melanomas. NM is associated with worse outcomes, which have been attributed to increased thickness at presentation, it widely expected that SSM would exhibit similar behavior once metastasized. Herein, we tested hypothesis subtype an independent predictor survival may impact response treatment in metastatic setting. Methods We examined most recent...
DNA polymerase lambda (pol λ) is a novel family X that has been suggested to play role in meiotic recombination and repair. The recent demonstration of an intrinsic 5′-deoxyribose-5-phosphate lyase activity pol λ supports function this enzyme base excision However, the biochemical properties polymerization are still largely unknown. We have cloned purified human homogeneity soluble active form, we present here description its features. In support repair, inserts nucleotides...
Abstract Purpose: The Breast Cancer Linkage Consortium and other family-based ascertainments have suggested that male carriers of BRCA mutations are at increased risk prostate cancer. Several series looking the frequency in unselected patients with cancer not confirmed this finding. To clarify issue, we conducted a large case-control study. Experimental Design: Blood specimens from 251 Ashkenazi men were screened for presence one three common founder BRCA1 BRCA2. incidence was compared 1472...
The 1100delC CHEK2 allele has been associated with a 1.4–4.7 fold increased risk for breast cancer in women carrying this mutation. While the frequency of was 1.1–1.4% healthy Finnish controls, North American control population and kindreds remains unclear. We genotyped 1665 New York volunteers 300 cases CHEK2*1100delC. overall 3/300 (1.0%) among all either family history (n = 192) or personal 108, which 46 were bilateral, unilateral, 16 male cases), compared to 5/1665 (0.3%) controls (p...
Functional and genomic approaches can be integrated to screen efficiently for pathogenic alleles in founder populations. We applied such analysis of the cancer-associated cell cycle regulator CHEK2 Ashkenazi Jewish population. first identified two extended haplotypes at that co-segregated with breast cancer high-risk families. sequenced a case representing each haplotype discovered novel amino acid substitutions, CHEK2.S428F kinase domain CHEK2.P85L N-terminal region. To assay these loss...
Abstract Introduction Several common alleles have been shown to be associated with breast and/or ovarian cancer risk for BRCA1 and BRCA2 mutation carriers. Recent genome-wide association studies of identified eight additional susceptibility loci: rs1011970 (9p21, CDKN2A/B) , rs10995190 ( ZNF365) rs704010 ZMIZ1 ), rs2380205 (10p15), rs614367 (11q13), rs1292011 (12q24), rs10771399 (12p11 near PTHLH) rs865686 (9q31.2). Methods To evaluate whether these single nucleotide polymorphisms (SNPs) are...
Prostate cancer is a heterogeneous disease with variable natural history that not accurately predicted by currently used prognostic tools.We genotyped 798 prostate cases of Ashkenazi Jewish ancestry treated for localized between June 1988 and December 2007. Blood samples were prospectively collected de-identified before being matched to clinical data. The survival analysis was adjusted Gleason score prostate-specific antigen. We investigated associations 29 single nucleotide polymorphisms...
Abstract Cigarette smoking alters the oral microbiome; however, effect of alternative tobacco products remains unclear. Middle Eastern like dokha and shisha, are becoming globally widespread. We tested for first time in a population hypothesis that different impact microbiome. The microbiome 330 subjects from United Arab Emirates Healthy Future Study was assessed by amplifying bacterial 16S rRNA gene mouthwash samples. Tobacco consumption using structured questionnaire further validated...