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   Articles with "germline mutation" as a keyword



A Novel Homozygous Germline Mutation in Transferrin Receptor 1 (TfR1) Leads to Combined Immunodeficiency and Provides New Insights into Iron-Immunity Axis

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recommendations! Published in 2024 at "Journal of Clinical Immunology"

DOI: 10.1007/s10875-024-01658-0

Abstract: A homozygous missense mutation in the transferrin receptor 1 (TfR1), also known as CD71, leads to a rare inborn error of immunity (IEI) characterized by the impaired lymphocyte activation and proliferation due to defective iron… read more here.

Keywords: homozygous germline; mutation transferrin; germline mutation; mutation ... See more keywords
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Complete histopathologic examination of risk reduction gastrectomy specimens for CDH1 germline mutation: Is it warranted in routine clinical practice?

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recommendations! Published in 2020 at "Annals of diagnostic pathology"

DOI: 10.1016/j.anndiagpath.2020.151473

Abstract: AIMS CDH1 germline mutation is associated with high penetrance of hereditary diffuse gastric cancer (HDGC). Due to the lack of endoscopically identifiable lesions, routine surveillance is ineffective in the early detection of gastric cancer, and… read more here.

Keywords: germline mutation; examination; risk reduction; gastrectomy ... See more keywords
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Germline mutation rates in young adults predict longevity and reproductive lifespan

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recommendations! Published in 2020 at "Scientific Reports"

DOI: 10.1038/s41598-020-66867-0

Abstract: Ageing may be due to mutation accumulation across the lifespan, leading to tissue dysfunction, disease, and death. We tested whether germline autosomal mutation rates in young adults predict their remaining survival, and, for women, their… read more here.

Keywords: germline mutation; mutation; mutation accumulation; mutation rates ... See more keywords

Olaparib combined with immunotherapy for treating a patient with liver cancer carrying BRCA2 germline mutation

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recommendations! Published in 2020 at "Medicine"

DOI: 10.1097/md.0000000000022312

Abstract: Abstract Rationale: Immunotherapy and targeted therapy have attracted widespread attention in current clinical research, which could be considered as a good therapeutic option for treatment of refractory liver cancer. Patient concerns: The patient was a… read more here.

Keywords: brca2 germline; germline mutation; liver cancer; cancer ... See more keywords
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Gray Zone Lymphoma Arising in the Neck of a Teenager With a Germline Mutation in TP53.

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recommendations! Published in 2018 at "Journal of Pediatric Hematology/Oncology"

DOI: 10.1097/mph.0000000000001308

Abstract: Gray zone lymphoma is an aggressive disease for which appropriate management is still debated. We report a 15-year-old girl with a cervical mass, an enlarged ipsilateral tonsil, and anemia. Both sites showed hypermetabolism on F18-FG… read more here.

Keywords: germline mutation; gray zone; zone lymphoma; mutation tp53 ... See more keywords

Relationship among ETV1 genetic polymorphisms, PFS, and microRNA in gastrointestinal stromal tumors.

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recommendations! Published in 2019 at "Journal of Clinical Oncology"

DOI: 10.1200/jco.2019.37.15_suppl.e22513

Abstract: e22513 Background: In order to evaluate the pharmacokinetic and pharmacogenomic determinants for prognosis of gastrointestinal stromal tumor (GIST). It is necessary to explore a biological predictors to predict and optimal therapeutic strategy. But there were… read more here.

Keywords: germline mutation; genetic polymorphisms; etv1 genetic; gastrointestinal stromal ... See more keywords

Pancreatic cancer germline mutation report: An in-depth analysis of demographics, mutation profile, and patient survival.

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recommendations! Published in 2022 at "Journal of Clinical Oncology"

DOI: 10.1200/jco.2022.40.16_suppl.e16233

Abstract: e16233 Background: Germline genetic testing is now recommended for patients with pancreatic ductal adenocarcinoma (PDAC). We explored whether attributes of testing, such as uptake fraction and rate, were associated with various clinical features. Here we… read more here.

Keywords: germline testing; germline; analysis; germline mutation ... See more keywords

High germline mutation rates, but not extreme population outbreaks, influence genetic diversity in a keystone coral predator

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recommendations! Published in 2024 at "PLOS Genetics"

DOI: 10.1371/journal.pgen.1011129

Abstract: Lewontin’s paradox, the observation that levels of genetic diversity (π) do not scale linearly with census population size (Nc) variation, is an evolutionary conundrum. The most extreme mismatches between π and Nc are found for… read more here.

Keywords: mutation rates; genetic diversity; population; germline mutation ... See more keywords

TP53 p.Arg337His germline mutation prevalence in Southern Brazil: Further evidence for mutation testing in young breast cancer patients

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recommendations! Published in 2018 at "PLoS ONE"

DOI: 10.1371/journal.pone.0209934

Abstract: Premenopausal breast cancer (BC) is a core tumor of Li-Fraumeni (LFS) and Li-Fraumeni-like (LFL) Syndromes, predisposition disorders caused by germline mutations in TP53 gene. In the Southern and Southeastern regions of Brazil, a specific TP53… read more here.

Keywords: germline mutation; tp53 arg337his; mutation testing; breast cancer ... See more keywords

A case of juvenile-onset pheochromocytoma with KIF1B p.V1529M germline mutation.

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recommendations! Published in 2022 at "Endocrine journal"

DOI: 10.1507/endocrj.ej21-0475

Abstract: In 2008, a familial noradrenergic pheochromocytoma (PCC) with a KIF1B germline mutation in exon 41 was reported in a 24-year-old female proband and her family. However, in 2020, the same research group reported that the… read more here.

Keywords: juvenile onset; mutation; kif1b v1529m; germline mutation ... See more keywords

Bladder paraganglioma, gastrointestinal stromal tumor, and SDHB germline mutation in a patient with Carney-Stratakis syndrome: A case report and literature review

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recommendations! Published in 2022 at "Frontiers in Oncology"

DOI: 10.3389/fonc.2022.1030092

Abstract: Background Carney-Stratakis syndrome (CSS) is a rare dyad of paraganglioma (PGL)/pheochromocytoma (PHEO) and gastrointestinal stromal tumor (GIST). PGLs are neuroendocrine tumors of neural crest origin which are mostly found in the head, neck, and retroperitoneal… read more here.

Keywords: bladder; patient; germline mutation; case ... See more keywords