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 1.82% 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 (1.52%), PALB2 Nonsense (0.18%), PALB2 Amplification (0.11%), PALB2 M296* (0.04%), and PALB2 Loss (0.04%) [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 +

Adenocarcinoma Of The Gastroesophageal Junction +

Pancreatic Adenocarcinoma +

Non-Small Cell Lung Carcinoma +

Pancreatic Carcinoma +

Urothelial Carcinoma +

Gastric Carcinoma +

Endometrial Carcinoma +

Melanoma +

Colorectal Carcinoma +

Small Cell Lung Carcinoma +

Gastric Adenocarcinoma +

Soft Tissue Sarcoma +

Cervical Carcinoma +

Clear Cell Renal Cell Carcinoma +

Head And Neck Carcinoma +

High Grade Ovarian Serous Adenocarcinoma +

Bladder Urothelial Carcinoma +

Bladder Carcinoma +

Esophageal Carcinoma +

Esophageal Adenocarcinoma +

Head And Neck Squamous Cell Carcinoma +

Non-Hodgkin Lymphoma +

Cholangiocarcinoma +

Squamous Cell Lung Carcinoma +

Osteosarcoma +

Gastrointestinal Stromal Tumor +

Pancreatic Ductal Adenocarcinoma +

Vaginal Carcinoma +

Penile Carcinoma +

Anal Carcinoma +

Esophageal Squamous Cell Carcinoma +

Malignant Uterine Neoplasm +

Colorectal Adenocarcinoma +

Malignant Intestinal Neoplasm +

Multiple Myeloma +

Malignant Esophagogastric Neoplasm +

Mantle Cell Lymphoma +

Cancer +

Lung Carcinoma +

Diffuse Large B-Cell Lymphoma +

Malignant Ovarian Epithelial Tumor +

Malignant Mesothelioma +

Malignant Gastric Neoplasm +

Invasive Breast Carcinoma +

Renal Cell Carcinoma +

Gallbladder Carcinoma +

B-Cell Non-Hodgkin Lymphoma +

Biliary Tract Carcinoma +

Bile Duct Adenocarcinoma +

Bile Duct Carcinoma +

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

Mesothelioma +

Ewing Sarcoma +

Ampulla Of Vater Carcinoma +

Neuroblastoma +

Rhabdomyosarcoma +

Leiomyosarcoma +

Low Grade Ovarian Serous Adenocarcinoma +

Malignant Small Intestinal Neoplasm +

Bronchogenic Carcinoma +

High Grade Fallopian Tube Serous Adenocarcinoma +

Ovarian Clear Cell Adenocarcinoma +

Primary Peritoneal High Grade Serous Adenocarcinoma +

Uveal Melanoma +

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 8. 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.