A5015833264- Cancer Genomics and Diagnostics
- Genetic factors in colorectal cancer
- BRCA gene mutations in cancer
- Breast Cancer Treatment Studies
- Breast Lesions and Carcinomas
- Genomics and Rare Diseases
- Lung Cancer Treatments and Mutations
- Esophageal Cancer Research and Treatment
- Parvovirus B19 Infection Studies
- Single-cell and spatial transcriptomics
- Ovarian cancer diagnosis and treatment
- Cancer and Skin Lesions
- Histiocytic Disorders and Treatments
- Viral-associated cancers and disorders
- Cancer Cells and Metastasis
- Oral and Maxillofacial Pathology
- Periodontal Regeneration and Treatments
- Bioinformatics and Genomic Networks
- Pluripotent Stem Cells Research
- Immune Cell Function and Interaction
- Genomic variations and chromosomal abnormalities
- Pancreatic and Hepatic Oncology Research
- DNA Repair Mechanisms
- Salivary Gland Tumors Diagnosis and Treatment
- Hedgehog Signaling Pathway Studies
Memorial Sloan Kettering Cancer Center
2019-2022
Pasteur Institute of Iran
2021
Biotechnology Research Center
2021
Shahid Beheshti University of Medical Sciences
2016
Tehran University of Medical Sciences
2015
Babol University of Medical Sciences
2011
Abstract High-grade serous ovarian cancer (HGSOC) is an archetypal of genomic instability 1–4 patterned by distinct mutational processes 5,6 , tumour heterogeneity 7–9 and intraperitoneal spread 7,8,10 . Immunotherapies have had limited efficacy in HGSOC 11–13 highlighting unmet need to assess how the anatomical sites foci determine immunological states microenvironment. Here we carried out integrative analysis whole-genome sequencing, single-cell RNA digital histopathology multiplexed...
Ductal carcinoma in situ (DCIS) is a nonobligate precursor of invasive breast cancer. Here, we sought to investigate the level intralesion genetic heterogeneity DCIS and patterns clonal architecture changes progression from disease.Synchronous (n = 27) ductal carcinomas no special type (IDC-NSTs; n 26) 25 patients, pure 7) 7 patients were microdissected separately subjected high-depth whole-exome 56) or massively parallel sequencing targeting ≥410 key cancer-related genes 4). Somatic...
Histologic special types of breast cancer (BC) account for ~20% BCs. Large sequencing studies metastatic BC have focused on invasive ductal carcinomas no type (IDC-NSTs). We sought to define the repertoire somatic genetic alterations histologic BC. reanalyzed targeted capture data 309 BC, including and primary lobular (ILCs;
Abstract Primary pleomorphic adenomas (PAs) and mucoepidermoid carcinomas (MECs) of the breast are vanishingly rare. Here we sought to determine whether PAs MECs would be underpinned by fusion genes reported occur in their salivary gland counterparts. Our study included three one MEC, which were subjected RNA sequencing (PAs, n = 2; 1) or Archer FusionPlex (PA, 1). analyses revealed presence HMGA2 - WIF1 gene PA3, CTNNB1 PLAG1 PA2, CRTC1 MAML2 MEC analyzed (1/1). No oncogenic detected PA1,...
Abstract Mosaic mutations in normal tissues can occur early embryogenesis and be associated with hereditary cancer syndromes when affecting susceptibility genes (CSG). Their contribution to apparently sporadic cancers is currently unknown. Analysis of paired tumor/blood sequencing data 35,310 patients revealed 36 pathogenic mosaic variants CSGs, most which were not detected by prior clinical genetic testing. These CSG consistently at varying variant allelic fractions microdissected (n = 48)...
Abstract Metaplastic breast cancers (MBCs) are characterized by complex genomes, which seem to vary according their histologic subtype. TERT promoter hotspot mutations and gene amplification rare in common forms of cancer, but present a subset phyllodes tumors. Here, we sought determine the frequency genetic alterations affecting cohort 60 MBCs with distinct predominant metaplastic components (squamous, 23%; spindle, 27%; osseous, 8%; chondroid, 42%), compare repertoire presence or...
Aims Breast adenomyoepitheliomas (AMEs) are uncommon tumours. Most oestrogen receptor (ER)‐positive AMEs have mutations in phosphoinositide 3‐kinase (PI3K) pathway genes, whereas ER‐negative usually harbour concurrent affecting the HRAS Q61 hotspot and PI3K genes. Here, we sought to determine sensitivity specificity of RAS Q61R immunohistochemical (IHC) analysis for detection AMEs. Methods results Twenty‐six (14 ER‐positive; 12 ER‐negative) previously subjected massively parallel sequencing...
Aims Breast neuroendocrine tumours (NETs) constitute a rare histologic subtype of oestrogen receptor (ER)-positive breast cancer, and their definition according to the WHO classification was revised in 2019. NETs display transcriptomic similarities with mucinous carcinomas (MuBCs). Here, we sought compare repertoire genetic alterations MuBCs from other anatomic origins. Methods On review applying new criteria, 18 differentiation were reclassified as (n=10) or cancers (n=8). We reanalysed...
Langerhans cell histiocytosis (LCH) is a rare histiocytic proliferation of unknown etiology. It characterized by granuloma-like Langerhans-type dendritic cells and mainly affects young children. Although multiple investigators have suggested the possible role viruses, such as Epstein-Barr virus (EBV), human herpesvirus-6 (HHV-6), Herpes simplex (HSV) types 1 2, Cytomegalovirus (CMV) in pathogenesis LCH, it remains, however, debated.The EBV infection reported to be associated with LCH....
Aims Activating somatic mutations or gene amplification of KIT result in constitutive activation its receptor tyrosine kinase, which is targetable various solid tumours. Here, we sought to investigate the presence genetic alterations breast cancer (BC) and characterise histological genomic features these Methods A retrospective analysis 5,575 BCs previously subjected targeted sequencing using FDA-authorised Memorial Sloan Kettering-Integrated Mutation Profiling Actionable Targets...
Abstract Juvenile papillomatosis (JP) of the breast is a rare benign mass‐forming lesion occurring in young women, which histologically characterized by constellation proliferative changes and large cysts, giving it gross appearance Swiss cheese. A subset patients with JP report family history carcinoma and/or coexisting or subsequent carcinoma. We performed whole‐exome sequencing hyperplastic epithelial component three JPs, including one ductal situ (DCIS) invasive no special type...
ABSTRACT High-grade serous ovarian cancer (HGSOC) is an archetypal of genomic instability patterned by distinct mutational processes, intratumoral heterogeneity and intraperitoneal spread. We investigated determinants immune recognition evasion in HGSOC to elucidate co- evolutionary processes underlying malignant progression tumor immunity. Mutational anatomic sites foci were key microenvironment cellular phenotypes, inferred from whole genome sequencing, single-cell RNA digital...
Langerhans cell histiocytosis is a rare proliferative histiocytic disease of unknown etiology. Histologically, it characterized by granuloma-like proliferation Langerhans-type dendritic cells derived from bone marrow. Many investigators have suggested the possible role viruses such as Epstein-Barr virus, human herpesvirus-6 (HHV-6), herpes simplex virus (HSV) types 1 and 2, Cytomegalovirus in pathogenesis histiocytosis.In this study, we investigated presence Iranian children.In retrospective...
Background: Langerhans cell histiocytosis (LCH) is a rare histiocytic proliferative disorder of unknown etiology that mainly affects young children. The histological feature the granuloma-like proliferation Langerhans-type dendritic cells. possible role viruses such as Epstein-Barr virus (EBV, HHV-4), human herpesvirus-6 (HHV-6), herpes simplex (HSV) types 1 and 2, cytomegalovirus (CMV, HHV-5) in pathogenesis LCH has been suggested some studies; however, this still remains under debate....
<p>Supplementary Methods shows additional materials and methodology used in this study.</p>
<p>Supplementary Figure S2 shows the repertoire and number of non-synonymous somatic mutations mutational signatures in synchronously diagnosed ductal carcinoma situ invasive no special type pure situ.</p>
<p>Supplementary Figure S3 shows the copy number profiles of ductal carcinomas in situ (DCIS) and invasive no special type (IDC-NST), frequency most commonly mutated genes DCIS, compared to luminal B IDC-NSTs, according ER/HER2 status.</p>