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GeneE
25 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
PALB2
partner and localizer of BRCA2
Chromosome 16 Β· 16p12.2
NCBI Gene: 79728Ensembl: ENSG00000083093.12HGNC: HGNC:26144UniProt: A0A8V8TLC8
287PubMed Papers
24Diseases
0Drugs
1,458Pathogenic Variants
FUNCTIONAL ROLE
DNA RepairHomologous RecombinationHub GeneTumor Suppressor
RESEARCH IMPACT
Variant-Rich
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
protein-containing complexprotein bindingdouble-strand break repair via homologous recombinationnucleoplasmFanconi anemia complementation group Nbreast neoplasmbreast cancerbreast carcinoma
✦AI Summary

PALB2 (partner and localizer of BRCA2) serves as a critical scaffold protein in homologous recombination DNA repair by forming the essential BRCA1-PALB2-BRCA2 complex 1. The protein recruits BRCA2 and RAD51 to DNA breaks, stimulates RAD51's strand-invasion activity, and helps overcome inhibitory effects of replication protein A 1. PALB2 functions through both BRCA1-dependent and BRCA1-independent recruitment mechanisms, ensuring efficient DNA double-strand break repair even when BRCA1 is compromised 1. Germline truncating mutations in PALB2 confer significant breast cancer risk, with odds ratios of 4.69 compared to controls 2. The lifetime breast cancer risk for PALB2 mutation carriers is substantial, estimated at 14% by age 50 and 35% by age 70, with risks potentially overlapping those of BRCA2 carriers 3. PALB2 mutations also increase contralateral breast cancer risk, particularly in carriers with estrogen receptor-negative tumors who show a hazard ratio of 2.9 4. The protein is found in colorectal cancer patients at a frequency of approximately 0.2% 5, demonstrating its broader role in cancer predisposition beyond breast cancer.

Sources cited
1
PALB2 forms BRCA1-PALB2-BRCA2 complex and functions in both BRCA1-dependent and independent DNA repair mechanisms
PMID: 35819255
2
Truncating PALB2 variants confer 4.69-fold increased breast cancer risk
PMID: 28779002
3
PALB2 mutation carriers have 14% breast cancer risk by age 50 and 35% by age 70
PMID: 25099575
4
PALB2 carriers with ER-negative breast cancer have 2.9-fold increased contralateral breast cancer risk
PMID: 36623243
5
PALB2 mutations found in approximately 0.2% of colorectal cancer patients
PMID: 28135145
Disease Associationsβ“˜24
Fanconi anemia complementation group NOpen Targets
0.83Strong
breast neoplasmOpen Targets
0.81Strong
breast cancerOpen Targets
0.80Strong
breast carcinomaOpen Targets
0.78Strong
Hereditary breast and ovarian cancer syndromeOpen Targets
0.74Strong
Hereditary breast cancerOpen Targets
0.73Strong
hereditary breast carcinomaOpen Targets
0.73Strong
familial pancreatic carcinomaOpen Targets
0.71Strong
Fanconi anemiaOpen Targets
0.71Strong
susceptibility to breast cancerOpen Targets
0.68Moderate
PALB2-related cancer predispositionOpen Targets
0.67Moderate
cancerOpen Targets
0.64Moderate
neoplasmOpen Targets
0.63Moderate
pancreatic carcinomaOpen Targets
0.62Moderate
bile duct adenocarcinomaOpen Targets
0.60Moderate
hereditary neoplastic syndromeOpen Targets
0.58Moderate
Inherited cancer-predisposing syndromeOpen Targets
0.58Moderate
hereditary breast ovarian cancer syndromeOpen Targets
0.57Moderate
breast-ovarian cancer, familial, susceptibility to, 1Open Targets
0.54Moderate
gastric cancerOpen Targets
0.54Moderate
Breast cancerUniProt
Breast-ovarian cancer, familial, 5UniProt
Fanconi anemia complementation group NUniProt
Pancreatic cancer 3UniProt
Pathogenic Variants1,458
NC_000016.10:g.(?_23603162)_(23603669_?)delPathogenic
PALB2-related cancer predisposition
β˜…β˜…β˜…β˜†2025
NM_024675.4(PALB2):c.532del (p.Glu178fs)Pathogenic
Familial cancer of breast|Hereditary cancer-predisposing syndrome|PALB2-related cancer predisposition
β˜…β˜…β˜…β˜†2023β†’ Residue 178
NM_024675.4(PALB2):c.2787_2788dup (p.Asn930fs)Pathogenic
Familial cancer of breast|Hereditary cancer-predisposing syndrome|PALB2-related cancer predisposition
β˜…β˜…β˜…β˜†2023β†’ Residue 930
NM_024675.4(PALB2):c.839del (p.Asn280fs)Pathogenic
Familial cancer of breast|not provided|Hereditary cancer-predisposing syndrome|PALB2-related disorder|PALB2-related cancer predisposition
β˜…β˜…β˜…β˜†2023β†’ Residue 280
NM_024675.4(PALB2):c.3350G>A (p.Arg1117Lys)Pathogenic
Hereditary cancer-predisposing syndrome|Familial cancer of breast|not specified|Hereditary breast ovarian cancer syndrome|Breast-ovarian cancer, familial, susceptibility to, 5|not provided|PALB2-related cancer predisposition
β˜…β˜…β˜…β˜†2023β†’ Residue 1117
NM_024675.4(PALB2):c.2074C>T (p.Gln692Ter)Likely pathogenic
not provided|Hereditary cancer-predisposing syndrome|Familial cancer of breast|Hereditary breast ovarian cancer syndrome|PALB2-related cancer predisposition|Breast-ovarian cancer, familial, susceptibility to, 5
β˜…β˜…β˜…β˜†2023β†’ Residue 692
NM_024675.4(PALB2):c.682C>T (p.Gln228Ter)Pathogenic
Hereditary cancer-predisposing syndrome|Familial cancer of breast|Hereditary breast ovarian cancer syndrome|Breast-ovarian cancer, familial, susceptibility to, 5|PALB2-related cancer predisposition
β˜…β˜…β˜…β˜†2023β†’ Residue 228
NM_024675.4(PALB2):c.7G>T (p.Glu3Ter)Pathogenic
Familial cancer of breast|Hereditary cancer-predisposing syndrome|not provided|PALB2-related cancer predisposition|Breast-ovarian cancer, familial, susceptibility to, 5
β˜…β˜…β˜…β˜†2023β†’ Residue 3
NM_024675.4(PALB2):c.514_517del (p.Ser172fs)Pathogenic
Familial cancer of breast|Malignant tumor of breast|Hereditary cancer-predisposing syndrome|PALB2-related cancer predisposition
β˜…β˜…β˜…β˜†2023β†’ Residue 172
NM_024675.4(PALB2):c.108+1_108+2insCLikely pathogenic
Hereditary cancer-predisposing syndrome|PALB2-related cancer predisposition
β˜…β˜…β˜…β˜†2023
NM_024675.4(PALB2):c.2559C>T (p.Gly853=)Likely pathogenic
Familial cancer of breast|Hereditary cancer-predisposing syndrome|not provided|Familial cancer of breast;Hereditary cancer-predisposing syndrome|PALB2-related cancer predisposition
β˜…β˜…β˜…β˜†2023β†’ Residue 853
NM_024675.4(PALB2):c.2524_2535delinsTCAGA (p.Ala842fs)Pathogenic
Hereditary cancer-predisposing syndrome|PALB2-related cancer predisposition
β˜…β˜…β˜…β˜†2023β†’ Residue 842
NM_024675.4(PALB2):c.3362del (p.Gly1121fs)Likely pathogenic
Familial cancer of breast|Hereditary cancer-predisposing syndrome|not provided|Hereditary breast ovarian cancer syndrome|Malignant tumor of breast|Breast and/or ovarian cancer|Breast-ovarian cancer, familial, susceptibility to, 5|PALB2-related cancer predisposition
β˜…β˜…β˜…β˜†2023β†’ Residue 1121
NM_024675.4(PALB2):c.3549C>A (p.Tyr1183Ter)Pathogenic
Hereditary cancer-predisposing syndrome|Familial cancer of breast|not provided|Hereditary breast ovarian cancer syndrome|Familial cancer of breast;Pancreatic cancer, susceptibility to, 3;Fanconi anemia complementation group N|Breast-ovarian cancer, familial, susceptibility to, 1|Pancreatic cancer, susceptibility to, 3;Fanconi anemia complementation group N;Breast-ovarian cancer, familial, susceptibility to, 5|PALB2-related disorder|PALB2-related cancer predisposition|Pancreatic cancer, susceptibility to, 3;Fanconi anemia complementation group N;Hereditary cancer-predisposing syndrome;Breast-ovarian cancer, familial, susceptibility to, 5
β˜…β˜…β˜…β˜†2023β†’ Residue 1183
NM_024675.4(PALB2):c.3113G>A (p.Trp1038Ter)Pathogenic
Familial cancer of breast|Hereditary cancer-predisposing syndrome|not provided|Hereditary breast ovarian cancer syndrome|Familial cancer of breast;Hereditary cancer-predisposing syndrome|Pancreatic cancer, susceptibility to, 3;Fanconi anemia complementation group N;Malignant tumor of breast|Breast-ovarian cancer, familial, susceptibility to, 5|PALB2-related disorder|Breast and/or ovarian cancer|NICE approved PARP inhibitor treatment|Inherited breast cancer and ovarian cancer|Inherited ovarian cancer (without breast cancer)|PALB2-related cancer predisposition|Pancreatic cancer, susceptibility to, 3;Fanconi anemia complementation group N;Breast-ovarian cancer, familial, susceptibility to, 5|Pancreatic cancer, susceptibility to, 3;Fanconi anemia complementation group N;Hereditary cancer-predisposing syndrome;Breast-ovarian cancer, familial, susceptibility to, 5|Gastric cancer
β˜…β˜…β˜…β˜†2023β†’ Residue 1038
NM_024675.4(PALB2):c.3350+4A>GLikely pathogenic
Familial cancer of breast|Hereditary cancer-predisposing syndrome|not provided|Breast-ovarian cancer, familial, susceptibility to, 5|PALB2-related disorder|PALB2-related cancer predisposition|Malignant tumor of breast
β˜…β˜…β˜…β˜†2023
NM_024675.4(PALB2):c.1592del (p.Leu531fs)Pathogenic
Familial cancer of breast|Hereditary cancer-predisposing syndrome|not provided|Hereditary breast ovarian cancer syndrome|Breast-ovarian cancer, familial, susceptibility to, 5|Familial pancreatic carcinoma|PALB2-related cancer predisposition
β˜…β˜…β˜…β˜†2022β†’ Residue 531
NM_024675.4(PALB2):c.1547_1548del (p.Arg516fs)Pathogenic
Familial cancer of breast|not provided|Hereditary cancer-predisposing syndrome
β˜…β˜…β˜†β˜†2026β†’ Residue 516
NM_024675.4(PALB2):c.1140_1143del (p.Ser380fs)Pathogenic
Hereditary cancer-predisposing syndrome|Familial cancer of breast|not provided|not specified|Pancreatic cancer, susceptibility to, 3;Fanconi anemia complementation group N;Familial cancer of breast|Breast-ovarian cancer, familial, susceptibility to, 5
β˜…β˜…β˜†β˜†2026β†’ Residue 380
NM_024675.4(PALB2):c.1675_1676delinsTGPathogenic
Hereditary cancer-predisposing syndrome|not provided|Familial cancer of breast|Precursor B-cell acute lymphoblastic leukemia|Malignant tumor of breast|Familial cancer of breast;Pancreatic cancer, susceptibility to, 3;Fanconi anemia complementation group N|PALB2-related disorder
β˜…β˜…β˜†β˜†2026
View on ClinVar β†—
Related Genes
NDUFB5Protein interaction100%NDUFA13Protein interaction100%NDUFC2Protein interaction100%NDUFB3Protein interaction100%NDUFS1Protein interaction100%NDUFV2Protein interaction100%
Tissue Expression6 tissues
Liver
100%
Brain
99%
Bone Marrow
92%
Ovary
89%
Heart
83%
Lung
77%
Gene Interaction Network
Click a node to explore
PALB2NDUFB5NDUFA13NDUFC2NDUFB3NDUFS1NDUFV2
PROTEIN STRUCTURE
Preparing viewer…
PDB2W18 Β· 1.90 Γ… Β· X-ray
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
0.90LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.74 [0.62–0.90]
RankingsWhere PALB2 stands among ~20K protein-coding genes
  • #1,249of 20,598
    Most Researched287 Β· top 10%
  • #20of 5,498
    Most Pathogenic Variants1,458 Β· top 1%
  • #8,117of 17,882
    Most Constrained (LOEUF)0.90
Genes detectedPALB2
Sources retrieved25 papers
Response timeβ€”
πŸ“„ Sources
25β–Ό
1
Rare, protein-truncating variants in
PMID: 28779002
J Med Genet Β· 2017
1.00
2
BRCA1-BARD1 promotes RAD51-mediated homologous DNA pairing.
PMID: 28976962
Nature Β· 2017
0.90
3
Cancer Susceptibility Gene Mutations in Individuals With Colorectal Cancer.
PMID: 28135145
J Clin Oncol Β· 2017
0.80
4
Contralateral Breast Cancer Risk Among Carriers of Germline Pathogenic Variants in
PMID: 36623243
J Clin Oncol Β· 2023
0.70
5
Functional analysis of genetic variants in the high-risk breast cancer susceptibility gene PALB2.
PMID: 31757951
Nat Commun Β· 2019
0.64