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Article

Germline SDHx variants modify breast and thyroid cancer risks in Cowden and Cowden-like syndrome via FAD/NAD-dependant destabilization of p53.

Human molecular genetics - 15 Jan 2012

Ni Ying, He Xin, Chen Jinlian, Moline Jessica, Mester Jessica, Orloff Mohammed S, Ringel Matthew D, Eng Charis

Abstract excerpt

Cowden syndrome (CS), a Mendelian autosomal-dominant disorder, predisposes to breast, thyroid and other cancers. Germline mutations in phosphatase and tensin homolog (PTEN) have been recently reported in 23% of a large series of classic CS. Here, we validated our small (n = 10) pilot study in a l...

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Share to Flavin-Adenine Dinucleotide
Share to Genes, p53
Share to Genetic Carrier Screening

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Hamartoma Syndrome, Multiple

Share to PTEN Phosphohydrolase

Share to Succinate Dehydrogenase

Share to Thyroid Neoplasms

Source

Open in PubMed Open full text

Identifiers

PMID: 21979946
DOI: 10.1093/hmg/ddr459
PMCID: PMC3276278

Genes

PTEN
MDM2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-21979946-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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