Overview

NCI Definition: A carcinoma which has metastasized from an unknown primary anatomic site. [1]

Carcinoma of unknown primarys most frequently harbor alterations in TP53, KRAS, CDKN2A, PIK3CA, and KMT2D [2].

Most Commonly Altered Genes in Carcinoma of Unknown Primary

TP53 Mutation, TP53 Missense, TP53 c.217-c.1178 Missense, KRAS Mutation, and KRAS Exon 2 Mutation are the most common alterations in carcinoma of unknown primary [2].

Top Alterations in Carcinoma of Unknown Primary

Significant Genes in Carcinoma of Unknown Primary

BRCA1 +

BRCA2 +

MLH1 +

MLH3 +

MSH2 +

MSH3 +

MSH6 +

PMS1 +

PMS2 +

Disease Details

Synonyms
Carcinoma of unknown primary (CUP), Unknown primary carcinoma (NOS)
Parent(s)
Metastatic Carcinoma
Children
Adenocarcinoma of Unknown Primary, Squamous Cell Carcinoma of Unknown Primary, and Neuroendocrine Carcinoma of Unknown Primary

References

1. National Cancer Institute. NCI Thesaurus Version 18.11d. https://ncit.nci.nih.gov/ncitbrowser/ [2018-08-28]. [2018-09-21].

2. The AACR Project GENIE Consortium. AACR Project GENIE: powering precision medicine through an international consortium. Cancer Discovery. 2017;7(8):818-831. Dataset Version 8. This dataset does not represent the totality of the genetic landscape; see paper for more information.

3. All assertions and clinical trial landscape data are curated from primary sources. You can read more about the curation process here.