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ERBB2
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Interpretation 391
Tier 1
ERBB2
Variants
ERBB2 S295F
Primary Sites
Bladder
Tumor Types
Adenocarcinoma
Interpretation

This mutation is located at extracellular domain. Patients with mutation of ERBB2 S310F, which is very close to S295 and also an extracellular domain, have been treated successfully with anti-HER agents (Jia et al, 2014; Vornicova et al, 2014). Although mutation at extracellular domain does not elevate HER2 protein level (negative for IHC), it might still activate HER2 protein or it’s downstream signaling.

Citations
  1. Jia Y, et al. Successful treatment of a patient with Li-Fraumeni syndrome and metastatic lung adenocarcinoma harboring synchronous EGFR L858R and ERBB2 extracellular domain S310F mutations with the pan-HER inhibitor afatinib. Cancer Biol Ther 2014;15(8):970-4
  2. Vornicova O, et al. Treatment of metastatic extramammary Paget's disease associated with adnexal adenocarcinoma, with anti-HER2 drugs based on genomic alteration ERBB2 S310F. Oncologist 2014;19(9):1006-7
  3. Jasra S, et al. A Rare Case of S310F Somatic ERBB2 Mutation in a HER2-Nonamplified Breast Cancer. Clin Breast Cancer 2017;17(1):e37-e41
Last updated: 2017-02-23 16:05:20 UTC
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When using PMKB, please cite: Huang et al., JAMIA 2017


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