Varaico: Literature-Extracted Genetic Variants

Gene:SDHC
Variant:p.H127R
Back to variants list

SDHC

NM_003001.5:p.H127R

Associated Papers

Estimated global prevalence of genetic carriers of hereditary pheochromocytoma-paraganglioma syndrome in a large multiethnic genomic database.

Charoenngam N et al.

European Journal of Endocrinology, 2025

Impact of CHEK2 germline variants on haematological malignancy risk and outcomes of allogeneic HSCT.

Lahtinen AK et al.

British Journal of Haematology, 2025

40506802 (PubMed )
Supplement: BJH-207-636-s001.docx

The evolutionary impact of childhood cancer on the human gene pool.

Stoltze UK et al.

Nature Communications, 2024

38424437 (PubMed )
Supplement: 41467_2024_45975_MOESM4_ESM.xlsx › Supplementary_Data_12

Preferential MGMT hypermethylation in SDH-deficient wild-type GIST.

Giger OT et al.

Journal of Clinical Pathology, 2023

SDHx mutation and pituitary adenoma: can in vivo 1H-MR spectroscopy unravel the link?

Branzoli F et al.

Endocrine-related Cancer, 2023

Clinically relevant germline variants in allogeneic hematopoietic stem cell transplant recipients.

Lahtinen AK et al.

Bone Marrow Transplantation, 2023

36195768 (PubMed )
Supplement: 41409_2022_1828_MOESM1_ESM.docx

Succinate dehydrogenase and MYC-associated factor X mutations in pituitary neuroendocrine tumours.

Loughrey PB et al.

Endocrine-related Cancer, 2022

Enrichment of cancer-predisposing germline variants in adult and pediatric patients with acute lymphoblastic leukemia.

Douglas SPM et al.

Scientific Reports, 2022

SDHC phaeochromocytoma and paraganglioma: A UK-wide case series.

Williams ST et al.

Clinical Endocrinology, 2022

SDH-deficient renal cell carcinoma: A case report associated with a novel germline mutation.

Milionis V et al.

Clinical Case Reports, 2021

Sequencing of a central nervous system tumor demonstrates cancer transmission in an organ transplant.

Gingras MC et al.

Life Science Alliance, 2021

Cabergoline reduces 3-methoxytyramine in a SDHC patient with metastatic paraganglioma and prolactinoma.

Hussein Z et al.

Endocrinology, Diabetes & Metabolism Case Reports, 2021

Exome sequencing and characterization of 49,960 individuals in the UK Biobank.

Van Hout CV et al.

Nature, 2020

33087929 (PubMed )
Supplement: 41586_2020_2853_MOESM11_ESM.xlsx › Sheet1

Genetic Alterations in Renal Cancers: Identification of The Mechanisms Underlying Cancer Initiation and Progression and of Therapeutic Targets.

Testa U et al.

Medicines (basel, Switzerland), 2020

Characterization of tumor mutation burden, PD-L1 and DNA repair genes to assess relationship to immune checkpoint inhibitors response in metastatic renal cell carcinoma.

Labriola MK et al.

Journal for Immunotherapy of Cancer, 2020

32221016 (PubMed )
Supplement: jitc-2019-000319supp001.xlsx › Supp_Table_1

SDHC epi-mutation testing in gastrointestinal stromal tumours and related tumours in clinical practice.

Casey RT et al.

Scientific Reports, 2019

The 3PAs: An Update on the Association of Pheochromocytomas, Paragangliomas, and Pituitary Tumors.

Xekouki P et al.

Hormone and Metabolic Research = Hormon- Und Stoffwechselforschung = Hormones Et Metabolisme, 2019

The Impact Of Succinate Dehydrogenase Gene (SDH) Mutations In Renal Cell Carcinoma (RCC): A Systematic Review.

Aghamir SMK et al.

Oncotargets and Therapy, 2019

Tumour risks and genotype-phenotype correlations associated with germline variants in succinate dehydrogenase subunit genes SDHB, SDHC and SDHD.

Andrews KA et al.

Journal of Medical Genetics, 2018

Succinate Dehydrogenase (SDH)-Deficient Pancreatic Neuroendocrine Tumor Expands the SDH-Related Tumor Spectrum.

Niemeijer ND et al.

The Journal of Clinical Endocrinology and Metabolism, 2015

Toward an improved definition of the genetic and tumor spectrum associated with SDH germ-line mutations.

Evenepoel L et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2015

15 YEARS OF PARAGANGLIOMA: The association of pituitary adenomas and phaeochromocytomas or paragangliomas.

O'Toole SM et al.

Endocrine-related Cancer, 2015

Heterogeneous genetic background of the association of pheochromocytoma/paraganglioma and pituitary adenoma: results from a large patient cohort.

Dénes J et al.

The Journal of Clinical Endocrinology and Metabolism, 2015

Succinate dehydrogenase (SDH)-deficient renal carcinoma: a morphologically distinct entity: a clinicopathologic series of 36 tumors from 27 patients.

Gill AJ et al.

The American Journal of Surgical Pathology, 2014

Succinate dehydrogenase deficiency is rare in pituitary adenomas.

Gill AJ et al.

The American Journal of Surgical Pathology, 2014

Germline SDHC mutation presenting as recurrent SDH deficient GIST and renal carcinoma.

Gill AJ et al.

Pathology, 2013

An overview on molecular biology of KIT/PDGFRA wild type (WT) gastrointestinal stromal tumours (GIST).

Nannini M et al.

Journal of Medical Genetics, 2013

A comprehensive next generation sequencing-based genetic testing strategy to improve diagnosis of inherited pheochromocytoma and paraganglioma.

Rattenberry E et al.

The Journal of Clinical Endocrinology and Metabolism, 2013

Immunohistochemical loss of succinate dehydrogenase subunit A (SDHA) in gastrointestinal stromal tumors (GISTs) signals SDHA germline mutation.

Miettinen M et al.

The American Journal of Surgical Pathology, 2013

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."