PALB2

Official Full Name

partner and localizer of BRCA2

Organism

Homo sapiens

GeneID

79728

Background

This gene encodes a protein that may function in tumor suppression. This protein binds to and colocalizes with the breast cancer 2 early onset protein (BRCA2) in nuclear foci and likely permits the stable intranuclear localization and accumulation of BRCA2. [provided by RefSeq, Jul 2008]

Synonyms

FANCN; PNCA3; BROVCA5;

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Detailed Information

Role of PALB2 in breast cancer and corresponding molecular mechanisms of its function

Encoded on chromosome 16p12.2 and comprised of 1186 residues, the major BRAC2 binding partner, partner and localizer of BRAC2 (PALB2), licenses the function of BRCA2 and evolves in the process of homologous recombination (HR), which is a faithful DNA double-strand break (DSB) repair pathway in mammalians cells. The subtype of Fanconi anemia (FA-N) resulting from biallelic mutations in PALB2 has been demonstrated by numerous studies, while monoallelic PALB2 mutations predispose carriers to multiple cancers. As the most frequently diagnosed cancer and the major cause of cancer death among women worldwide, breast cancer has been identified a broad range of breast susceptibility genes, including BRCA1, BRCA2 and TP53, and attributions to familial and genetic factors of almost 10-15% cases among the breast cancer further underscore the great significance of genetic susceptibility in its development. PALB2 has been confirmed to be a high-risk breast cancer susceptibility gene in recent large-scale analyses of multigene panel testing, and odds ratio of its mutations for breast cancer was comparable to that of BRCA2 mutations. The link between PALB2 pathogenic variants (PVs) and breast cancer predisposition, aggressive clinicopathological features, and adverse clinical prognosis has been described in the revelation of the biological roles of the multifaceted PALB2 protein and its regulation. So, the identification of PALB2 pathogenic variants may make great contributions in breast cancer precise treatment.

Precision medicine for BRCA/PALB2-mutated pancreatic cancer

Pancreatic cancer is estimated to be the second leading cause of cancer-related death by 2030, as advanced disease and poor responses to broad-spectrum chemotherapy were typically accompanied by the patients. This may put forward the clinical need to find a new therapeutic approach for PDAC patients. Therapeutic pathways of poly (ADP-ribose) polymerase (PARP) inhibition in several cancers were found to be with loss of high-fidelity double-strand break homologous recombination (HR), where are deleterious mutations to BRCA1/2, PALB2, and other functionally related genes. Alteration of such mutations of those genes in pancreatic ductal adenocarcinoma (PDAC) can significantly influence drug responses including both first-line chemotherapy and maintenance therapy. More than this, BRCA and PALB2 mutations are not sole predictors of either HRD or PARP inhibitor sensitivity, since the several studies in PDAC suggest that the true rates of HRD in PDAC patients may be underreported using only BRCA and PALB2 mutations as the defining criteria.

Figure 1. The role of PALB2 in homolous recombination (HR). (Wu, et al. 2020)

References:

Wu S, Zhou J, Zhang K, et al. Molecular mechanisms of PALB2 function and its role in breast cancer management. Frontiers in Oncology, 2020, 10: 301.
Principe D R. Precision Medicine for BRCA/PALB2-Mutated Pancreatic Cancer and Emerging Strategies to Improve Therapeutic Responses to PARP Inhibition. Cancers, 2022, 14(4): 897.

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