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Interpretation 181
Tier 2
PTEN
Variants
PTEN any deletion
Primary Sites
Colon
Rectum
Tumor Types
Adenocarcinoma
Interpretation

PTEN mutations occur in 5-14% of colorectal cancers. PTEN is a tumor suppressor gene, and loss of PTEN results in upregulation of the PI3K/ AKT pathway. PTEN loss of expression is observed with KRAS, BRAF, and PIK3CA mutations. In retrospective studies, PTEN loss is associated with decreased sensitivity of colorectal cancer tumors to anti-EGFR antibodies. PTEN loss is associated with lack of benefit of the anti-EGFR antibody, cetuximab.

Citations
  1. DeRoock et al… 2011. KRAS, BRAF, PIK3CA, and PTEN mutations: implications for targeted therapies in metastatic colorectal cancer. Lancet Oncol. 2011 Jun;12(6):594-603.
  2. Laurent-Puig et al…2009. Analysis of PTEN, BRAF, and EGFR status in determining benefit from cetuximab therapy in wild-type KRAS metastatic colon cancer. J Clin Oncol. 2009 Dec 10;27(35):5924-30
Last updated: 2020-07-24 14:52:16 UTC
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When using PMKB, please cite: Huang et al., JAMIA 2017


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