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Frequency and distribution of BRCA1/BRCA2 large genomic rearrangements in Turkish population with breast cancer
Germline mutations in BRCA1 and BRCA2 genes are mainly responsible for breast and/or ovarian cancer patients. Most of the mutations in these genes...
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Convergent evolution of a genomic rearrangement may explain cancer resistance in hystrico- and sciuromorpha rodents
The rodents of hystricomorpha and sciuromorpha suborders exhibit remarkably lower incidence of cancer. The underlying genetic basis remains obscure....
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Complex rearrangement in TBC1D4 in an individual with diabetes due to severe insulin resistance syndrome
Severe insulin resistance syndromes result from primary insulin signaling defects, adipose tissue abnormalities or other complex syndromes. Mutations...
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A novel complex genomic rearrangement affecting the KCNJ2 regulatory region causes a variant of Cooks syndrome
Cooks syndrome (CS) is an ultrarare limb malformation due to in tandem microduplications involving KCNJ2 and extending to the 5′ regulatory element...
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Genomic loss of the HSP70cA gene in the vertebrate lineage
Metazoan 70 kDa heat shock protein (HSP70) genes have been classified into four lineages: cytosolic A ( HSP70cA ), cytosolic B ( HSP70cB ), endoplasmic...
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Mechanisms of structural chromosomal rearrangement formation
Structural chromosomal rearrangements result from different mechanisms of formation, usually related to certain genomic architectural features that...
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Optical genome map** identifies clinically relevant genomic rearrangements in prostate cancer biopsy sample
BackgroundProstate cancer (PCa) is characterized by complex genomic rearrangements such as the ETS oncogene family fusions, yet the clinical...
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A novel subclonal rearrangement of the STRN3::PDGFRB gene in de novo acute myeloid leukemia with NPM1 mutation and its leukemogenic effects
Chromosome translocations in the 5q31-33 region are associated with a range of hematologic malignancies, some of which involve the platelet-derived...
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Powering Toxicogenomic Studies by Applying Machine Learning to Genomic Sequencing and Variant Detection
Since the advent of massively parallel high-throughput sequencing, also known as next-generation sequencing (NGS), the cost of DNA sequencing has...
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Preimplantation genetic testing using comprehensive genomic copy number analysis is beneficial for balanced translocation carriers
Balanced chromosomal translocation is one of chromosomal variations. Carriers of balanced chromosomal translocations have an increased risk of...
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Formation of ultralong DH regions through genomic rearrangement
BackgroundCow antibodies are very unusual in having exceptionally long CDR H3 regions. The genetic basis for this length largely derives from long...
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Genomic landscape and distinct molecular subtypes of primary testicular lymphoma
Primary testicular lymphoma (PTL) is a rare lymphoma predominantly occurring in the elderly male population. It is characterized by a limited...
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Genomic profiling and clinical utility of circulating tumor DNA in metastatic prostate cancer: SCRUM-Japan MONSTAR SCREEN project
BackgroundCirculating tumor DNA (ctDNA) testing has emerged as a novel tool for cancer precision medicine. This study investigated the genomic...
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Genomic analysis reveals HDAC1 regulates clinically relevant transcriptional programs in Pancreatic cancer
Novel strategies are needed to combat multidrug resistance in pancreatic ductal adenocarcinoma (PDAC). We applied genomic approaches to understand...
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Genomic profiling informs therapies and prognosis for patients with hepatocellular carcinoma in clinical practice
Hepatocellular carcinoma (HCC) genomic research has discovered actionable genetic changes that might guide treatment decisions and clinical trials....
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Genomic view of the origins of cell-mediated immunity
NKp30 is an activating natural killer cell receptor (NKR) with a single-exon variable (VJ)–type immunoglobulin superfamily (IgSF) domain. Such...
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A genomic deletion encompassing CRYBB2-CRYBB2P1 is responsible for autosomal recessive congenital cataracts
Here we report a consanguineous Pakistani family with multiple affected individuals with autosomal recessive congenital cataract (arCC). Exclusion...
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The genomic and immune landscape of long-term survivors of high-grade serous ovarian cancer
Fewer than half of all patients with advanced-stage high-grade serous ovarian cancers (HGSCs) survive more than five years after diagnosis, but those...
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Complete lung agenesis caused by complex genomic rearrangements with neo-TAD formation at the SHH locus
During human organogenesis, lung development is a timely and tightly regulated developmental process under the control of a large number of signaling...
