Any feedback?
Please rate this page
(literature.php)
(0/150)

BRENDA support

Literature summary for 1.3.5.1 extracted from

  • Ni, Y.; Zbuk, K.M.; Sadler, T.; Patocs, A.; Lobo, G.; Edelman, E.; Platzer, P.; Orloff, M.S.; Waite, K.A.; Eng, C.
    Germline mutations and variants in the succinate dehydrogenase genes in Cowden and Cowden-like syndromes (2008), Am. J. Hum. Genet., 83, 261-268.
    View publication on PubMedView publication on EuropePMC

Application

Application Comment Organism
diagnostics succinate dehydrogenase subunits may be candidate susceptibility genes for some phosphatase and tensin homolog (PTEN, tumor suppressor) mutation-negative individuals with Cowden syndrome-like cancers. To address this hypothesis, germline succinate dehydrogenase subunits SDHB-D mutation analysis in 375 PTEN mutation-negative Cowden syndrome /Cowden syndrome -like individuals is performed, followed by functional analysis of identified SDH mutations/variants. Germline SDH mutations/variants occur in a subset of PTEN mutation-negative Cowden syndrome /Cowden syndrome -like individuals and are associated with increased frequencies of breast, thyroid, and renal cancers beyond those conferred by germline PTEN mutations. SDH testing should be considered for germline PTEN mutation-negative Cowden syndrome /Cowden syndrome -like -like individuals, especially in the setting of breast, thyroid, and/or renal cancers Homo sapiens

Cloned(Commentary)

Cloned (Comment) Organism
genes SDHC, SDHD, and SDHB, DNA and amino acid sequence determination and analysis, expression analysis in healthy individuals and in patients with Cowden and Cowden-like syndromes, the latter show PTEN mutations, overview Homo sapiens

Protein Variants

Protein Variants Comment Organism
A3G naturally occurring germline mutation of gene SDHB, phenotype, overview Homo sapiens
G12S naturally occurring germline mutation of gene SDHD, phenotype, overview Homo sapiens
H145N naturally occurring germline mutation of gene SDHD, phenotype, overview Homo sapiens
H50R naturally occurring germline mutation of gene SDHD, phenotype, overview Homo sapiens
additional information germline mutations and variants in the succinate dehydrogenase gene SDHD, encoding the subunit D, in Cowden and Cowden-like syndromes, overview, mutations of the SDH genes can cause diverse pathologies, overview Homo sapiens
S163P naturally occurring germline mutation of gene SDHB, phenotype, overview Homo sapiens

Natural Substrates/ Products (Substrates)

Natural Substrates Organism Comment (Nat. Sub.) Natural Products Comment (Nat. Pro.) Rev. Reac.
additional information Homo sapiens the Cowden or Cowden-like syndromes are caused by PTEN mutations of the SDH-D gene, encoding the subunit D, the syndromes are associated with breast, thyroid and endometrial neoplasias, overview ?
-
?

Organism

Organism UniProt Comment Textmining
Homo sapiens
-
-
-
Homo sapiens
-
genes SDHC, SDHD, and SDHB
-

Substrates and Products (Substrate)

Substrates Comment Substrates Organism Products Comment (Products) Rev. Reac.
additional information the Cowden or Cowden-like syndromes are caused by PTEN mutations of the SDH-D gene, encoding the subunit D, the syndromes are associated with breast, thyroid and endometrial neoplasias, overview Homo sapiens ?
-
?

Synonyms

Synonyms Comment Organism
SDH
-
Homo sapiens
succinate dehydrogenase
-
Homo sapiens