Gene of the month: PALB2.
Omar HamdanKlaudia M NowakPublished in: Journal of clinical pathology (2022)
The partner and localiser of BRCA2 (PALB2) gene, located on chromosome 16, functions as a tumour suppressor that plays a critical role in homologous recombination repair after DNA double-strand breaks. It encodes proteins involved in the BRCA2 and BRCA1, and RAD51 pathways. Heterozygous germline mutations in PALB2 have been implicated in the development of breast, pancreatic and ovarian cancers. Whereas biallelic mutations of PALB2 have been associated with Fanconi anaaemia. Currently, 604 distinct PALB2 variants have been discovered. However, only 140 variants are thought to be pathogenic and approximately 400 are variants of unknown significance. Further studies are needed before the presence of PLAB2 mutations can be implemented as a routine clinical biomarker.
Keyphrases
- copy number
- dna repair
- dna damage
- genome wide
- dna methylation
- breast cancer risk
- intellectual disability
- circulating tumor
- single molecule
- clinical practice
- oxidative stress
- men who have sex with men
- human immunodeficiency virus
- transcription factor
- antiretroviral therapy
- circulating tumor cells
- nucleic acid
- hepatitis c virus