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HRAS Q61R
GeneHRAS
Variantmissense
Amino Acid ChangeQ61R
Transcript ID (GRCh37/hg19)ENST00000451590
Codon61
Germline/Somatic?Somatic
Pertinent Negative In
Tumor TypePrimary Site
See All Pertinent Negatives

Interpretations

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Tier 2
HRAS
Variants
HRAS codon(s) 12, 13, 61 any
HRAS Q61R
Primary Sites
Breast
Tumor Types
Cholangiocarcinoma
Interpretation

When mutated, HRAS can act as an oncogene, causing normal cells to become cancerous. Somatic HRAS mutations have been associated with some cases of bladder, thyroid and kidney cancers and in nevi. HRAS mutations are rarely found in the breast and the HRAS Q61R mutation has not been previously reported in this cancer. Inferring the clinical evidence seen in melanoma, downstream pathway MEK inhibitors may be a feasible treatment strategy. The effectiveness of MEK inhibitors for HRAS-mutant thyroid and bladder cancer patients has not yet been investigated.

Last updated: 2015-12-09 21:04:41 UTC
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Tier 2
HRAS
Variants
HRAS codon(s) 12, 13, 61 any
HRAS Q61R
HRAS Q61K
Primary Sites
Anus
Vulva
Oral Cavity
Pharynx
Larynx
Tumor Types
Squamous Cell Carcinoma
Interpretation

RAS is a family of small GTPases and acts as an oncogene. Point mutations in codons 12 and 13 of RAS gene increases its affinity for GTP and those in codon 61 inactivate its autocatalytic GTPase function, resulting in permanent RAS activation and stimulation of its downstream targets along the MAPK and PI3K/AKT signaling pathways. HRAS mutation has been reported in up to 5% and 9% of head/neck and vulvar squamous cell carcinoma, respectively. The predictive and prognostic significance of HRAS mutations in squamous cell carcinoma is unclear and needs further elucidation.

Last updated: 2018-12-14 14:07:45 UTC
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Disclaimer: You assume full responsibility for all risks associated with using this PMKB website. The Englander Institute for Precision Medicine at Weill Cornell Medicine makes no guarantee of the comprehensiveness, reliability or accuracy of the information on this website and assumes no responsibility for errors in the information associated with this web site. Healthcare providers and patients must integrate all clinical and laboratory findings as well as information from a variety of sources before deciding on appropriate clinical care options.


When using PMKB, please cite: Huang et al., JAMIA 2017


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