Associated Genetic Biomarkers
Associated Diseases
Associated Pathways

Overview

Location [1]
16p12.2
Pathway
DNA damage/repair
Protein [2]
Partner and localizer of BRCA2
Synonyms [1]
FANCN, PNCA3

Partner and localizer of BRCA2 (PALB2) is a gene that encodes a protein that functions in tumor suppression. Missense mutations, nonsense mutations, silent mutations, and frameshift deletions and insertions are observed in cancers such as intestinal cancer, skin cancer, and stomach cancer.

PALB2 is altered in 1.58% of all cancers with lung adenocarcinoma, colon adenocarcinoma, breast invasive ductal carcinoma, endometrial endometrioid adenocarcinoma, and bladder urothelial carcinoma having the greatest prevalence of alterations [3].

PALB2 GENIE Cases - Top Diseases

The most common alterations in PALB2 are PALB2 Mutation (1.76%), PALB2 Nonsense (0.18%), PALB2 Frameshift (0.15%), PALB2 Amplification (0.07%), and PALB2 Loss (0.03%) [3].

PALB2 GENIE Cases - Top Alterations

Biomarker-Directed Therapies

Significance of PALB2 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. 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.

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