| Symbol
| XRCC3
| contributors: mct/npt/pgu - updated : 28-11-2023
|
| HGNC name
| X-ray repair complementing defective repair in Chinese hamster cells 3
|
| HGNC id
| 12830
|
| Other morbid association(s)
|
| Type | Gene Modification | Chromosome rearrangement | Protein expression | Protein Function
|
|---|
| tumoral
|
|
|
| loss of function
| |
resulting in a defect in recombination and increased endoreduplication in cells , having a role in cancer susceptibility | | constitutional
|
|
| --low
|
|
results in a dramatic decrease in mtDNA copy number as well as the complete suppression of a characteristic oxidative stress-induced copy number increase  | | tumoral
| germinal mutation
|
|
|
| |
germinal deleterious variants in the RAD51 paralogs to breast and ovarian cancers | |
| Susceptibility
|
to myeloma for some htSNPs to malignant melanoma, breast cancer, to squamous cell carcinoma of head and neck to colorectal cancer to lung and colorectal cancer to ovarian cancer risk to late adverse effects induced by radiotherapy |
| Variant & Polymorphism
| T241-M in breast cancer and melanoma |
|
241Met allele may be an effective biomarker for genetic susceptibility to colorectal cancer |
|
XRCC3 241Met allele was associated with an increased risk of lung and colorectal cancer |
|
XRCC3 rs1799794 polymorphisms, having a statistically significant correlation with ovarian cancer risk |
|
XRCC3 rs1799794 polymorphism may have a protective effect against late adverse effects induced by radiotherapy |
| 
|
Candidate gene
Marker
Therapy target
|
| | | |
|
| Xrcc3 knockout mice exhibit midgestational lethality, with mild phenotypes beginning at about E8.25 but severe developmental abnormalities evident by E9.0-9.5 |