PALB2 Chromosome 16
Partner and localizer of BRCA2
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What This Gene Does
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]
Gene Info
Gene Group
"WD repeat domain containing|FA complementation groups"
Locus Type
gene with protein product
Location
16p12.2
Ensembl
ENSG00000083093
Associated Conditions (74)
Hereditary cancer-predisposing syndrome
Familial cancer of breast
PALB2-related cancer predisposition
Fanconi anemia complementation group N
Malignant tumor of breast
Carcinoma of colon
Pancreatic cancer
susceptibility to
3
Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer
familial
5
PALB2-related disorder
Familial pancreatic carcinoma
Chordoma
Familial ovarian cancer
Sarcoma
Uterine corpus endometrial carcinoma
Acute myeloid leukemia
+54 more conditions
Key Variants
RS1031787378
Conflicting classifications of pathogenicity
Hereditary cancer-predisposing syndrome, Familial cancer of breast, Hereditary cancer-predisposing syndrome
Health Risk
RS1038099508
Conflicting classifications of pathogenicity
Hereditary cancer-predisposing syndrome, PALB2-related cancer predisposition, Hereditary cancer-predisposing syndrome
Health Risk
RS1055533509
Conflicting classifications of pathogenicity
Hereditary cancer-predisposing syndrome, Familial cancer of breast, Hereditary cancer-predisposing syndrome
Health Risk
RS1056494105
Conflicting classifications of pathogenicity
Hereditary cancer-predisposing syndrome, Familial cancer of breast, Hereditary cancer-predisposing syndrome
Health Risk
RS1057517611
Conflicting classifications of pathogenicity
Hereditary cancer-predisposing syndrome, Familial cancer of breast, Hereditary cancer-predisposing syndrome
Health Risk
RS1057520645
Conflicting classifications of pathogenicity
Familial cancer of breast, Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
Health Risk
RS1057520982
Conflicting classifications of pathogenicity
Hereditary cancer-predisposing syndrome, Fanconi anemia complementation group N, Familial cancer of breast
Health Risk
RS1057520985
Conflicting classifications of pathogenicity
Hereditary cancer-predisposing syndrome, Familial cancer of breast, Hereditary cancer-predisposing syndrome
Health Risk
RS1060499831
Conflicting classifications of pathogenicity
Hereditary cancer-predisposing syndrome, Familial cancer of breast, Familial cancer of breast
Health Risk
RS1060502735
Conflicting classifications of pathogenicity
Familial cancer of breast, Hereditary cancer-predisposing syndrome, Malignant tumor of breast
Health Risk
RS1060502737
Conflicting classifications of pathogenicity
Familial cancer of breast, Hereditary cancer-predisposing syndrome, Familial cancer of breast
Health Risk
RS1060502739
Conflicting classifications of pathogenicity
Familial cancer of breast, Hereditary cancer-predisposing syndrome, Familial cancer of breast
Health Risk
All Variants (1758)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS886039624 | Health Risk | Pathogenic/Likely pathogenic | Familial cancer of breast, Familial cancer of breast |
| RS886039634 | Health Risk | Pathogenic/Likely pathogenic | Hereditary cancer-predisposing syndrome, Familial cancer of breast, Hereditary cancer-predisposing syndrome |
| RS886039645 | Health Risk | Pathogenic/Likely pathogenic | Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS886039686 | Health Risk | Pathogenic/Likely pathogenic | Familial cancer of breast, Hereditary cancer-predisposing syndrome, Familial cancer of breast |
| RS886039747 | Health Risk | Pathogenic/Likely pathogenic | Hereditary cancer-predisposing syndrome, Familial cancer of breast, Hereditary cancer-predisposing syndrome |
| RS886041220 | Health Risk | Pathogenic/Likely pathogenic | Hereditary cancer-predisposing syndrome, Familial cancer of breast, Breast-ovarian cancer |
| RS929474806 | Health Risk | Pathogenic/Likely pathogenic | Familial cancer of breast, Hereditary cancer-predisposing syndrome, Familial cancer of breast |
| RS995629797 | Health Risk | Pathogenic/Likely pathogenic | Familial cancer of breast, Hereditary cancer-predisposing syndrome, Fanconi anemia complementation group N |