Synonymous Somatic Variants in Human Cancer Are Not Infamous: A Plea for Full Disclosure in Databases and Publications
Sign Up to like & getrecommendations! Published in 2017 at "Human Mutation"
DOI: 10.1002/humu.23163
Abstract: Single‐nucleotide variants (SNVs) are the most frequent genetic changes found in human cancer. Most driver alterations are missense and nonsense variants localized in the coding region of cancer genes. Unbiased cancer genome sequencing shows that… read more here.
Keywords: cancer infamous; human cancer; somatic variants; synonymous somatic ... See more keywords
Accounting for proximal variants improves neoantigen prediction
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DOI: 10.1038/s41588-018-0283-9
Abstract: Recent efforts to design personalized cancer immunotherapies use predicted neoantigens, but most neoantigen prediction strategies do not consider proximal (nearby) variants that alter the peptide sequence and may influence neoantigen binding. We evaluated somatic variants… read more here.
Keywords: proximal variants; accounting proximal; somatic variants; neoantigen prediction ... See more keywords
Selection for somatic escape variants in SERPINA1 in the liver of patients with alpha-1 antitrypsin deficiency
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DOI: 10.1038/s41588-025-02125-1
Abstract: Somatic variants accumulate in non-malignant tissues with age. Functional variants, leading to clonal advantage of hepatocytes, accumulate in the liver of patients with acquired chronic liver disease (CLD). Whether somatic variants are common to CLD… read more here.
Keywords: alpha antitrypsin; variants serpina1; somatic variants; somatic escape ... See more keywords
Clinical Interpretation Challenges of Germline-Shared Somatic Variants in Cancer.
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DOI: 10.1093/labmed/lmab020
Abstract: OBJECTIVE To investigate the interpretation differences of germline-shared somatic variants. METHODS A total of 123,302 COSMIC variants associated with hematologic malignant neoplasms were used. The pathogenicity and actionability of shared variants were analyzed based on… read more here.
Keywords: germline shared; interpretation; shared somatic; shared variants ... See more keywords
Somatic mosaicism in focal epilepsies
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DOI: 10.1097/wco.0000000000001244
Abstract: Purpose of review Over the past decade, it has become clear that brain somatic mosaicism is an important contributor to many focal epilepsies. The number of cases and the range of underlying pathologies with somatic… read more here.
Keywords: somatic mosaicism; neurology; somatic variants; focal epilepsies ... See more keywords
Investigating the role of somatic sequencing platforms for phaeochromocytoma and paraganglioma in a large UK cohort.
Sign Up to like & getrecommendations! Published in 2021 at "Clinical endocrinology"
DOI: 10.1111/cen.14639
Abstract: OBJECTIVES Phaeochromocytomas and paragangliomas (PPGL) are rare neuroendocrine tumours with malignant potential and a hereditary basis in almost 40% of patients. Germline genetic testing has transformed the management of PPGL enabling stratification of surveillance approaches,… read more here.
Keywords: germline genetic; somatic sequencing; large cohort; cohort ... See more keywords
Targeted sequencing of candidate gene regions for myelofibrosis in dogs
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DOI: 10.1111/jvim.16476
Abstract: Abstract Background Myelofibrosis often lacks an identifiable cause in dogs. In humans, most primary myelofibrosis cases develop secondary to driver mutations in JAK2, CALR, or MPL. Objectives To determine the prevalence of variants in JAK2,… read more here.
Keywords: somatic variants; age; myelofibrosis; possibly pathogenic ... See more keywords
Deleterious somatic variants in 473 consecutive individuals with ovarian cancer: results of the observational AGO-TR1 study (NCT02222883)
Sign Up to like & getrecommendations! Published in 2019 at "Journal of Medical Genetics"
DOI: 10.1136/jmedgenet-2018-105930
Abstract: Background For individuals with ovarian cancer (OC), therapy options mainly depend on BRCA1/2 germline status. What is the prevalence of deleterious somatic variants, that is, does genetic tumour testing identify subgroups of individuals who also… read more here.
Keywords: predisposition genes; somatic variants; brca1; deleterious somatic ... See more keywords
Somatic mutation discovery in idiopathic multicentric castleman disease (iMCD) lymph node tissue identifies dysregulated intracellular calcium signaling as a potential disease mechanism and therapeutic target
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DOI: 10.1182/blood-2025-4789
Abstract: Background: Idiopathic multicentric Castleman disease (iMCD) is a rare, atypical lymphoproliferative disorder with significant morbidity and mortality and unknown etiology. Given the clinico-pathologic similarities between iMCD and several lymphomas, the field has long hypothesized that… read more here.
Keywords: disease; etiology; somatic variants; calcium ... See more keywords
Targeted tumor profiling and actionable somatic variants in sarcoma.
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DOI: 10.1200/jco.2018.36.15_suppl.11551
Abstract: 11551Background: The impact of next generation sequencing data on treatment decision and clinical outcome in sarcoma remains under investigation. Methods: We queried the Dana Farber Cancer Institut... read more here.
Keywords: actionable somatic; targeted tumor; variants sarcoma; somatic variants ... See more keywords
Accurate prediction of somatic variants using deep learning model.
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DOI: 10.1200/jco.2020.38.15_suppl.e13659
Abstract: e13659Background: Efficient and accurate identification of somatic variant is important for understanding the formation, progression, and treatment of cancer. It is necessary to conduct manual revi... read more here.
Keywords: using deep; somatic variants; variants using; deep learning ... See more keywords