Associated Genetic Biomarkers
Associated Diseases
Associated Pathways

Overview

Gene Location [1]
16p12.2
Pathway
DNA damage/repair
Gene
PALB2

PALB2 Mutation is present in 1.49% of AACR GENIE cases, with lung adenocarcinoma, colon adenocarcinoma, breast invasive ductal carcinoma, endometrial endometrioid adenocarcinoma, and bladder urothelial carcinoma having the greatest prevalence [4].

Top Disease Cases with PALB2 Mutation

Biomarker-Directed Therapies

Significance of PALB2 Mutation in Diseases

Prostate Carcinoma +

Malignant Solid Tumor +

Breast Carcinoma +

Ovarian Carcinoma +

Prostate Adenocarcinoma +

Primary Peritoneal Carcinoma +

Fallopian Tube Carcinoma +

Pancreatic Adenocarcinoma +

Urothelial Carcinoma +

Adenocarcinoma Of The Gastroesophageal Junction +

Non-Small Cell Lung Carcinoma +

Pancreatic Carcinoma +

Endometrial Carcinoma +

Gastric Adenocarcinoma +

Cervical Carcinoma +

Melanoma +

Colorectal Carcinoma +

Non-Hodgkin Lymphoma +

Small Cell Lung Carcinoma +

Clear Cell Renal Cell Carcinoma +

Bladder Urothelial Carcinoma +

Bladder Carcinoma +

Esophageal Adenocarcinoma +

Esophageal Carcinoma +

Cholangiocarcinoma +

Gastric Carcinoma +

High Grade Ovarian Serous Adenocarcinoma +

Squamous Cell Lung Carcinoma +

Soft Tissue Sarcoma +

Gastrointestinal Stromal Tumor +

Head And Neck Carcinoma +

Head And Neck Squamous Cell Carcinoma +

Osteosarcoma +

Pancreatic Ductal Adenocarcinoma +

Anal Carcinoma +

Malignant Uterine Neoplasm +

Colorectal Adenocarcinoma +

Malignant Intestinal Neoplasm +

B-Cell Non-Hodgkin Lymphoma +

Cancer +

Malignant Esophagogastric Neoplasm +

Lung Carcinoma +

Bile Duct Adenocarcinoma +

Bile Duct Carcinoma +

Invasive Breast Carcinoma +

Malignant Ovarian Epithelial Tumor +

Malignant Gastric Neoplasm +

Biliary Tract Carcinoma +

Malignant Mesothelioma +

Mesothelioma +

Renal Cell Carcinoma +

Kidney Carcinoma +

Ampulla Of Vater Carcinoma +

Bronchogenic Carcinoma +

Diffuse Large B-Cell Lymphoma +

Esophageal Squamous Cell Carcinoma +

Ewing Sarcoma +

Gallbladder Carcinoma +

Hepatocellular Carcinoma +

Histiocytic And Dendritic Cell Neoplasm +

Leiomyosarcoma +

Low Grade Ovarian Serous Adenocarcinoma +

Malignant Small Intestinal Neoplasm +

Mantle Cell Lymphoma +

Mature T-Cell And NK-Cell Non-Hodgkin Lymphoma +

Multiple Myeloma +

Neuroblastoma +

Ovarian Clear Cell Adenocarcinoma +

Penile Carcinoma +

Rhabdomyosarcoma +

Uveal Melanoma +

Vaginal Carcinoma +

Vulvar Carcinoma +

References

1. Hart R and Prlic A. Universal Transcript Archive Repository. Version uta_20180821. San Francisco CA: Github;2015. https://github.com/biocommons/uta

2. The UniProt Consortium. UniProt: a worldwide hub of protein knowledge. Nucleic Acids Research. 2019;47:D506-D515.

3. Liu X, Wu C, Li C, and Boerwinkle E. dbNSFP v3.0: A one-stop database of functional predictions and annotations for human nonsynonymous and splice site SNVs. Human Mutation. 2015;37:235-241.

Liu X, Jian X, and Boerwinkle E. dbNSFP: A lightweight database of human nonsynonymous SNPs and their functional predictions. Human Mutation. 2011;32:894-899.

4. The AACR Project GENIE Consortium. AACR Project GENIE: powering precision medicine through an international consortium. Cancer Discovery. 2017;7(8):818-831. Dataset Version 6. This dataset does not represent the totality of the genetic landscape; see paper for more information.

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