Overview

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

AACR GENIE data is not categorized as Somatic or Germline. To see GENIE data for this alteration, click here.

Significance of PALB2 Mutation (germline) in Diseases

Breast Carcinoma +

Malignant Solid Tumor +

Endometrial Carcinoma +

Malignant Uterine Corpus Neoplasm +

Melanoma +

Bladder Carcinoma +

Malignant Uterine Neoplasm +

Colorectal Carcinoma +

Esophageal Carcinoma +

B-Cell Non-Hodgkin Lymphoma +

Malignant Central Nervous System Neoplasm +

Non-Small Cell Lung Carcinoma +

Lung Carcinoma +

Bile Duct Carcinoma +

Ovarian Carcinoma +

Gastric Adenocarcinoma +

Pancreatic Adenocarcinoma +

Pancreatic Carcinoma +

Prostate Adenocarcinoma +

Prostate Carcinoma +

Soft Tissue Sarcoma +

Adenocarcinoma Of The Gastroesophageal Junction +

Bronchioloalveolar Carcinoma +

Bronchogenic Carcinoma +

Cervical Carcinoma +

Esophageal Squamous Cell Carcinoma +

Fallopian Tube Carcinoma +

Gallbladder Carcinoma +

Head And Neck Carcinoma +

Multiple Myeloma +

Primary Peritoneal 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. 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.