Associated Genetic Biomarkers

Overview

NCI Definition: A carcinoma arising from the ampulla of Vater. The vast majority of cases are adenocarcinomas. Signs and symptoms include jaundice, abdominal pain, anorexia, nausea, vomiting, and weight loss. [1]

Ampulla of vater carcinomas most frequently harbor alterations in TP53, KRAS, APC, CDKN2A, and SMAD4 [2].

Most Commonly Altered Genes in Ampulla of Vater Carcinoma

KRAS Mutation, KRAS Exon 2 Mutation, TP53 Mutation, KRAS Codon 12 Missense, and TP53 c.217-c.1178 Missense are the most common alterations in ampulla of vater carcinoma [2].

Top Alterations in Ampulla of Vater Carcinoma

Significant Genes in Ampulla of Vater Carcinoma

ARID1A +

ATM +

ATR +

ATRX +

BARD1 +

BRCA1 +

BRCA2 +

BRIP1 +

C11ORF30 +

CDK12 +

CHEK1 +

CHEK2 +

ERBB2 +

ERCC2 +

ERCC3 +

ERCC4 +

ERCC5 +

ERCC6 +

FANCA +

FANCB +

FANCC +

FANCD2 +

FANCE +

FANCF +

FANCG +

FANCI +

FANCL +

FANCM +

HDAC1 +

HDAC2 +

KRAS +

MCPH1 +

MDM2 +

MDM4 +

MLF1 +

MLH1 +

MLH3 +

MRE11A +

MSH2 +

MSH3 +

MSH6 +

MUTYH +

NBN +

NPM1 +

PALB2 +

PARP1 +

PARP2 +

PMS1 +

PMS2 +

POLE +

PPP2R1A +

PPP2R2A +

PTEN +

RAD50 +

RAD51 +

RAD51B +

RAD51C +

RAD51D +

RAD54L +

SLX4 +

SMARCB1 +

STAG2 +

STK11 +

TP53 +

UGT1A1 +

XRCC1 +

Disease Details

Synonyms
Ampulla of Vater Cancer, Ampullary Carcinoma, ampullary cancer
Parent(s)
Pancreatobiliary Carcinoma
Children
Ampulla of Vater Adenosquamous Carcinoma, Ampulla of Vater Mixed Adenoneuroendocrine Carcinoma, Ampulla of Vater Adenocarcinoma, Ampulla of Vater Small Cell Neuroendocrine Carcinoma, and Ampulla of Vater Squamous Cell Carcinoma
OncoTree Name
Ampullary Carcinoma
OncoTree Code
AMPCA

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.