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]
PNCA3, FANCN

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 Mutation (germline) (1.76%), PALB2 Mutation (somatic) (1.76%), PALB2 Nonsense (0.18%), and PALB2 Frameshift (0.15%) [3].

PALB2 GENIE Cases - Top Alterations

Significance of PALB2 in Diseases

Malignant Solid Tumor +

Breast Carcinoma +

Prostate Adenocarcinoma +

Prostate Carcinoma +

Ovarian Carcinoma +

Primary Peritoneal Carcinoma +

Fallopian Tube Carcinoma +

Pancreatic Adenocarcinoma +

Urothelial Carcinoma +

Endometrial Carcinoma +

Pancreatic Carcinoma +

Adenocarcinoma Of The Gastroesophageal Junction +

Small Cell Lung Carcinoma +

Non-Small Cell Lung Carcinoma +

Cervical Carcinoma +

Melanoma +

Colorectal Carcinoma +

Non-Hodgkin Lymphoma +

Gastric Adenocarcinoma +

Squamous Cell Lung Carcinoma +

Soft Tissue Sarcoma +

Bladder Carcinoma +

Esophageal Adenocarcinoma +

Esophageal Carcinoma +

B-Cell Non-Hodgkin Lymphoma +

Cholangiocarcinoma +

Gastric Carcinoma +

Clear Cell Renal Cell Carcinoma +

Gastrointestinal Stromal Tumor +

Head And Neck Carcinoma +

Head And Neck Squamous Cell Carcinoma +

Multiple Myeloma +

Osteosarcoma +

Anal Carcinoma +

Malignant Uterine Corpus Neoplasm +

Bladder Urothelial Carcinoma +

Malignant Uterine Neoplasm +

Colorectal Adenocarcinoma +

Malignant Intestinal Neoplasm +

Malignant Central Nervous System Neoplasm +

Cancer +

Malignant Esophagogastric Neoplasm +

Lung Adenocarcinoma +

Lung Carcinoma +

Bile Duct Adenocarcinoma +

Bile Duct Carcinoma +

Malignant Ovarian Epithelial Tumor +

Malignant Gastric Neoplasm +

Biliary Tract Carcinoma +

Mesothelioma +

High Grade Ovarian Serous Adenocarcinoma +

Renal Cell Carcinoma +

Kidney Carcinoma +

Ampulla Of Vater Carcinoma +

Bronchioloalveolar 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 +

Neuroblastoma +

Ovarian Clear Cell Adenocarcinoma +

Pancreatic Ductal Adenocarcinoma +

Penile Carcinoma +

Rhabdomyosarcoma +

Uveal Melanoma +

Vaginal Carcinoma +

Vulvar Carcinoma +

References

1. Hart R and Prlic A. Universal Transcript Archive Repository. Version uta_20171026. 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.