Endocrine Neoplasm — Variants & evidence

Endocrine Neoplasm — Variants & evidence · CancerIndex

Variants & evidence

Curated clinical evidence by variant and therapy

105 evidence items mapped to this entity or its descendants, grouped by molecular profile, then therapy. 50 items per page.

civicCuratedShowing 101–105 of 105 evidence items (5 on this page mapped to a descendant entity) · levels, directions and significance as curated at the source; each row links to its CIViC record.

Therapy	Cancer	Type	Level	Direction · significance	Rating (1–5)	Status	Evidence	Source
VHL P192R (c.575C>G)1
(predisposing)	Adrenal Gland Pheochromocytoma	Predisposing	C	N/A N/A	3	submitted	EID9343 A case report of a 70Y female NF1 patient was diagnosed with an isolated pheochromocytoma, hyperparathyroidism and medullary thyroid cancer. Molecular screening for germline mutations of the genes NF1… (full text at CIViC) PMID 19558618 · Gkaliagkousi et al., 2009 · Open in CIViC	civic
VHL Splice Region (c.463+8C>T)1
(predisposing)	Adrenal Gland Pheochromocytoma	Predisposing	C	Supports Uncertain Significance	2	accepted	EID6108 Screening of 68 patients, who had been operated on for apparently sporadic pheochromocytomas, for germline mutations in the VHL gene. This splice variant causes a premature stop codon at amino acid 66… (full text at CIViC) PMID 9663592 · van der Harst et al., 1998 · Open in CIViC	civic
VHL Y156C (c.467A>G)1
(predisposing)	Adrenal Gland Pheochromocytoma	Predisposing	C	Supports Uncertain Significance	2	submitted	EID6113 Frequency of VHL, RET, SDHD, SDHC, and SDHB germline mutations in 21 patients clinically classified as having apparently sporadic pheochromocytomas or paragangliomas was assessed. Germline variations … (full text at CIViC) PMID 12807974 · Bauters et al., 2003 · Open in CIViC	civic
RET Fusion1
Selpercatinib	Thyroid Gland Papillary CarcinomaALIAS	Predictive	B	Supports Sensitivity Response	4	accepted	EID7069 In this phase 1 trial, patients with RET-fusion or mutation positive cancers were treated with the selective RET-inhibitor selpercatinib (LOXO-292). Among the 6 patients with RET-fusion positive papil… (full text at CIViC) Open in CIViC	civic
YES1 Amplification + YES1 Overexpression1
CH6953755 + DasatinibSubstitutes	Lung Small Cell Carcinoma	Predictive	D	Supports Sensitivity Response	2	submitted	EID12556 In preclinical small cell lung carcinoma (SCLC) models with YES1 amplification or high expression, treatment with the YES1 inhibitor CH6953755 (30 mg/kg, q2d) or dasatinib (45 mg/kg daily) produced ma… (full text at CIViC) PMID 35988891 · Redin et al., 2022 · Open in CIViC	civic

Data updated 17 hours agoSource updated unknownsource: civic (CC0)

Evidence levels, directions and ratings are those assigned by CIViC curators. "Submitted" items have not completed curation review. This is not treatment guidance.