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Abbreviation : LOH
Long Form : loss of heterozygosity
No. Year Title Co-occurring Abbreviation
2021 Genome-Wide Analysis of Mitotic Recombination in Budding Yeast. ---
2021 Interhomolog Homologous Recombination in Mouse Embryonic Stem Cells. DSBs, IH-HR
2020 A case of solitary subependymal giant cell astrocytoma with histopathological anaplasia and TSC2 gene alteration. SEGA, TSC
2020 A comprehensive DNA panel next generation sequencing approach supporting diagnostics and therapy prediction in neurooncology. CNS, CNV, FFPE, InDel, NGS
2020 A profile on the FoundationFocus CDxBRCA tests. PARP
2020 Alu-Mediated MEN1 Gene Deletion and Loss of Heterozygosity in a Patient with Multiple Endocrine Neoplasia Type 1. AAMR, MEN1, MLPA, qPCR
2020 An Immunogram for an Individualized Assessment of the Antitumor Immune Response in Patients With Hepatocellular Carcinoma. CNV, DFS, HCC, ICGC, LIRI-JP, OS, WES
2020 Analysis of SNP Array Abnormalities in Patients with DE NOVO Acute Myeloid Leukemia with Normal Karyotype. AML, CCA, CNA, NK
2020 Analysis pipelines for cancer genome sequencing in mice. CNVs, NGS, SNVs
10  2020 ARMC5 alterations in patients with sporadic neuroendocrine tumors and multiple endocrine neoplasia type 1 (MEN1). IHC, MEN1, spNETs
11  2020 Cardiac Myxoma Caused by Fumarate Hydratase Gene Deletion in Patient With Cortisol-Secreting Adrenocortical Adenoma. 2SC, FH, HLRCC, PPNAD
12  2020 CaSpER identifies and visualizes CNV events by integrative analysis of single-cell or bulk RNA-sequencing data. BAF, CNVs
13  2020 Centromeric cohesion failure invokes a conserved choreography of chromosomal mis-segregations in pancreatic neuroendocrine tumor. PANETs
14  2020 Characterizing allele- and haplotype-specific copy numbers in single cells with CHISEL. CHISEL, CNAs, WGDs
15  2020 Comprehensive analysis of somatic copy number alterations in clear cell renal cell carcinoma. ccRCCs, RCC, SCNAs
16  2020 Congenital Hypoparathyroidism Associated With Elevated Circulating Nonfunctional Parathyroid Hormone Due to Novel PTH Mutation. PTH
17  2020 Detection of Loss of Heterozygosity in Tk-Deficient Mutants from L5178Y Tk+/--3.7.2C Mouse Lymphoma Cells. MLA, TK
18  2020 Drug Targeting of Genomic Instability in Multiple Myeloma. BRCA1, CA, HDAC, ISS, MIN, PARP
19  2020 Dynamic Extreme Aneuploidy (DEA) in the vegetable pathogen Phytophthora capsici and the potential for rapid asexual evolution. DEA
20  2020 E1021K Homozygous Mutation in PIK3CD Leads to Activated PI3K-Delta Syndrome 1. ---
21  2020 Frequency and molecular characteristics of PALB2-associated cancers in Russian patients. BC, OC
22  2020 Genome-wide DNA copy number profiling and bioinformatics analysis of ovarian cancer reveals key genes and pathways associated with distinct invasive/migratory capabilities. CNVs, OC, TFs
23  2020 Genomic Complexity of Osteosarcoma and Its Implication for Preclinical and Clinical Targeted Therapies. PDX
24  2020 Genomic profiles and transcriptomic microenvironments in 2 patients with synchronous lung adenocarcinoma and lung squamous cell carcinoma: a case report. MLCs
25  2020 Genomic profiling of late-onset basal cell carcinomas from two brothers with nevoid basal cell carcinoma syndrome. BCCs, LOF, NBCCS
26  2020 Genomic subtyping of liver cancers with prognostic application. CNVs, GOH, SNVs, srCNVs, WGS
27  2020 Germline whole exome sequencing of a family with appendiceal mucinous tumours presenting with pseudomyxoma peritonei. AMTs, CADD, LOF, PMP
28  2020 HLA Genotyping in Synovial Sarcoma: Identifying HLA-A*02 and Its Association with Clinical Outcome. CI, CLIA, MSK-IMPACT, OS, SS
29  2020 Identification of Novel Variants in MEN1: A Study Conducted with Four Multiple Endocrine Neoplasia Type 1 Patients. MEN1
30  2020 Implication of alterations in Parkin gene among North Indian patients with colorectal cancer. CRC, IHC, PRKN, SSCP
31  2020 Insights into Genetic Susceptibility to Melanoma by Gene Panel Testing: Potential Pathogenic Variants in ACD, ATM, BAP1, and POT1. ---
32  2020 Intratumor heterogeneity and homologous recombination deficiency of high-grade serous ovarian cancer are associated with prognosis and molecular subtype and change in treatment course. CI, HGSOC, HRD, IDS, ITH
33  2020 Intravenous leiomyomatosis: molecular analysis of 17 cases. IVL, STR
34  2020 Involvement of Rev1 in alkylating agent-induced loss of heterozygosity in Oryzias latipes. DENA, TLS
35  2020 Large 1p36 Deletions Affecting Arid1a Locus Facilitate Mycn-Driven Oncogenesis in Neuroblastoma. NBL, NCCs
36  2020 Loss of Heterozygosity and Base Mutation Rates Vary Among Saccharomyces cerevisiae Hybrid Strains. ---
37  2020 Loss of heterozygosity and immunoexpression of PTEN in oral epithelial dysplasia and squamous cell carcinoma. OED, OSCC
38  2020 Loss of Heterozygosity at Chromosome 16q Is a Negative Prognostic Factor in Korean Pediatric Patients with Favorable Histology Wilms Tumor: A Report of the Korean Pediatric Hematology Oncology Group (K-PHOG). EFS, FHWT, K-PHOG
39  2020 Loss of heterozygosity of essential genes represents a widespread class of potential cancer vulnerabilities. ---
40  2020 Loss of wild-type p53 promotes mutant p53-driven metastasis through acquisition of survival and tumor-initiating properties. GOF
41  2020 Major multilevel molecular divergence between THP-1 cells from different biorepositories. AML, STR
42  2020 Multi-omics integrative analysis and survival risk model construction of non-small cell lung cancer based on The Cancer Genome Atlas datasets. CN, LASSO, miRNA
43  2020 Novel morphological and genetic features of fumarate hydratase deficient renal cell carcinoma in HLRCC syndrome patients with a tailored therapeutic approach. FH, HLRCC
44  2020 p53-PHLDA3-Akt Network: The Key Regulators of Neuroendocrine Tumorigenesis. NETs, PanNETs
45  2020 Patient-Centered Outcomes in ARIEL3, a Phase III, Randomized, Placebo-Controlled Trial of Rucaparib Maintenance Treatment in Patients With Recurrent Ovarian Carcinoma. HRD, ITT, Q-TWiST, QAPFS, TEAEs
46  2020 Patterns of chromosome 18 loss of heterozygosity in multifocal ileal neuroendocrine tumors. chr, NETs
47  2020 Patterns of genetic diversification in the invasive hybrid plant pathogen Phytophthora x alni and its parental species P. uniformis. MLGs
48  2020 Pre- and Post-Zygotic TP53 De Novo Mutations in SHH-Medulloblastoma. LFS, SHH
49  2020 Recombination-induced revertant mosaicism in ichthyosis with confetti and loricrin keratoderma. HR, IWC, LK
50  2020 Renal angiomyolipoma (AML) harboring a missense mutation of TSC2 with copy-neutral loss of heterozygosity (CN-LOH). AML, CN-LOH, cnLOH, SNPs, TSC
51  2020 Silencing the intestinal GUCY2C tumor suppressor axis requires APC loss of heterozygosity. APC, FAP
52  2020 Simultaneous identification of clinically relevant RB1 mutations and copy number alterations in aqueous humor of retinoblastoma eyes. AH, cfDNA, Rb, SCNAs, SNVs
53  2020 SOAT1 promotes mevalonate pathway dependency in pancreatic cancer. PDAC, SOAT1
54  2020 Subclonal identification of driver mutations and copy number variations from single-cell DNA sequencing of tumors. SNVs
55  2020 Sustained fetal hematopoiesis causes juvenile death from leukemia: evidence from a dual-age-specific mouse model. HSCs
56  2020 The Efficiency of SNP-Based Microarrays in the Detection of Copy-Neutral Events at 15q11.2 and 11p15.5 Loci. MS-MLPA, SNP, UPD
57  2020 The implications of BRCA loss of heterozygosity (LOH) and deficient mismatch repair gene (dMMR) expression in the breast cancer of a patient with both inherited breast and ovarian cancer syndrome (BRCA2) and Lynch syndrome (MLH1). dMMR, dMMR, IHC, LS, MAF, MMR, NGS, TSG
58  2020 The Oncosuppressors MEN1 and CDC73 Are Involved in lncRNA Deregulation in Human Parathyroid Tumors. ASBMR, CDC73, lncRNAs, MEN1
59  2020 The role of AIP variants in pituitary adenomas and concomitant thyroid carcinomas in the Netherlands: a nationwide pathology registry (PALGA) study. AIP, DTCs, FIPA, FTC, NGS
60  2020 Trajectory and uniqueness of mutational signatures in yeast mutators. InDels
61  2020 TRIM28 congenital predisposition to Wilms' tumor: novel mutations and presentation in a sibling pair. ---
62  2019 Acromegaly caused by a somatotroph adenoma in patient with neurofibromatosis type 1. FTC, GH, NF1, PHPT
63  2019 Adaptation by Loss of Heterozygosity in Saccharomyces cerevisiae Clones Under Divergent Selection. ---
64  2019 Additional molecular and clinical evidence open the way to definitive IARC classification of the BRCA1 c.5332G > A (p.Asp1778Asn) variant. HGSOC
65  2019 Adrenocortical carcinoma in patients with MEN1: a kindred report and review of the literature. ACC, MEN1
66  2019 ARMC5 Alterations in Primary Macronodular Adrenal Hyperplasia (PMAH) and the Clinical State of Variant Carriers. PMAH
67  2019 Assessment of bendamustine-induced genotoxicity in eukaryotic cells. CA, CBPI, HI
68  2019 Association of intron microsatellite status and exon mutational profiles of TP53 in human colorectal cancer. MSI
69  2019 CDH1 somatic alterations in Mexican patients with diffuse and mixed sporadic gastric cancer. DGC, MGC, NGS
70  2019 Characterisation of genome-wide structural aberrations in canine mammary tumours using single nucleotide polymorphism (SNP) genotyping assay. CNV, SNP
71  2019 Characterization of a novel CDC73 gene mutation in a hyperparathyrodism-jaw tumor patient affected by parathyroid carcinoma in the absence of somatic loss of heterozygosity. CDC73, HPT-JT, PC, WB
72  2019 Circulating Lymphangioleiomyomatosis Tumor Cells With Loss of Heterozygosity in the TSC2 Gene Show Increased Aldehyde Dehydrogenase Activity. ALDH, LAM
73  2019 Clinical presentation and management of primary ovarian neuroendocrine tumor in multiple endocrine neoplasia type 1. CT, MEN1, mTOR, PRRT, SSAs, VEGF
74  2019 Clinical, pathological and loss of heterozygosity differences in Wilms tumors between Asian and non-Asian children. FFPE
75  2019 Clinicopathological Significance of Overall Frequency of Allelic Loss (OFAL) in Lesions Derived from Thyroid Follicular Cell. AJCC, FA, FTC, MSI, NG, OFAL, PTC, TD
76  2019 Clonal Evolution of TP53 c.375+1G>A Mutation in Pre- and Post- Neo-Adjuvant Chemotherapy (NACT) Tumor Samples in High-Grade Serous Ovarian Cancer (HGSOC). HGSOC, IDS, NACT, NGS
77  2019 Clonal relationship of synchronous head and neck cancer and esophageal cancer assessed by single nucleotide polymorphism-based loss of heterozygosity analysis. ESCC, HNSCC, SFTs, SNP, SPMs
78  2019 Comparison Between Flat and Round Peaches, Genomic Evidences of Heterozygosity Events. GWAS, NGS, SNPs
79  2019 Comprehensive genomic sequencing of paired ovarian cancers reveals discordance in genes that determine clinical trial eligibility. CNA, GM, MS, TMB
80  2019 Cytological and genetic consequences for the progeny of a mitotic catastrophe provoked by Topoisomerase II deficiency. MC
81  2019 Defining Risk Factors for Chemotherapeutic Intervention in Infants With Stage 4S Neuroblastoma: A Report From Children's Oncology Group Study ANBL0531. ---
82  2019 Detection of Loss of Heterozygosity in cfDNA of Advanced EGFR- or KRAS-Mutated Non-Small-Cell Lung Cancer Patients. cfDNA, EGFR, NSCLC, TKI
83  2019 Driver gene alterations and activated signaling pathways toward malignant progression of gastrointestinal stromal tumors. GIST, OG, PI3K, TSG
84  2019 Fitness benefits of loss of heterozygosity in Saccharomyces hybrids. ---
85  2019 Frequent loss of heterozygosity of SMAD4 locus and prognostic impacts of SMAD4 immunohistochemistry in gastric adenocarcinoma with enteroblastic differentiation. GAED, OS, RFS
86  2019 Gene overexpression screen for chromosome instability in yeast primarily identifies cell cycle progression genes. ---
87  2019 Generation of targeted homozygosity in the genome of human induced pluripotent stem cells. BLM, hiPSCs, HLA
88  2019 Genes Located on 18q23 Are Epigenetic Markers and Have Prognostic Significance for Patients with Head and Neck Cancer. ---
89  2019 Genetic Changes in Experimental Populations of a Hybrid in the Cryptococcus neoformans Species Complex. ---
90  2019 Genetic Characterization and Prognostic Relevance of Acquired Uniparental Disomies in Cytogenetically Normal Acute Myeloid Leukemia. CN-AML, DFS, FLT3-ITD, OS, UPD
91  2019 Genome plasticity in Candida albicans is driven by long repeat sequences. CNV
92  2019 Homologous recombination DNA repair defects in PALB2-associated breast cancers. BCs, HR, HRD, LSTs, PALB2
93  2019 How clonal are clones? A quest for loss of heterozygosity during asexual reproduction in Daphnia magna. RAD
94  2019 Identification of Hurthle cell cancers: solving a clinical challenge with genomic sequencing and a trio of machine learning algorithms. FNAB, GEC, GSC, ML, SVM
95  2019 Identification of Recessive Lethal Alleles in the Diploid Genome of a Candida albicans Laboratory Strain Unveils a Potential Role of Repetitive Sequences in Buffering Their Deleterious Impact. Chr7, DSB, MRS, RLA, SNP
96  2019 Integrated Analysis of Germline and Tumor DNA Identifies New Candidate Genes Involved in Familial Colorectal Cancer. CNVs, CRC, SNV
97  2019 Integrative immunologic and genomic characterization of brain metastasis from ovarian/peritoneal cancer. CNA
98  2019 Investigation of Cervical Tumor Biopsies for Chromosomal Loss of Heterozygosity (LOH) and Microsatellite Instability (MSI) at the HLA II Locus in HIV-1/HPV Co-infected Women. FDR, HIV-1, HPV, MSI
99  2019 Karyomapping in preimplantation genetic testing for beta-thalassemia combined with HLA matching: a systematic summary. HLA, PCR-STR, PGT, SNP
100  2019 Lack of association between denture trauma and loss of heterozygosity confronts the proposed pathologic role of chronic mucosal trauma in oral carcinogenesis. OSCC