SOS2

Overview

SOS2 (Son of Sevenless Homolog 2) encodes a guanine nucleotide exchange factor (GEF) for RAS and RAC1 GTPases, acting downstream of receptor tyrosine kinases to activate the MAPK and PI3K signalling cascades. SOS2 is structurally and functionally related to SOS1. In cancer genomics, SOS2 focal amplification has been identified in desmoplastic melanoma as part of a broad survey of MAPK/RTK pathway alterations.

Alterations observed in the corpus

• Focal amplification in 1 desmoplastic melanoma tumour identified by WGS/WES of 20 discovery + 42 validation tumours PMID:26343386

Cancer types (linked)

• Desmoplastic melanoma (MEL): SOS2 focal amplification detected in 1 case as part of a MAPK/RAS-pathway-enriched alteration landscape; desmoplastic melanoma is characterised by absence of BRAF V600E and NRAS Q61K/R PMID:26343386

Co-occurrence and mutual exclusivity

Therapeutic relevance

Open questions

Sources

• PMID:26343386

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