Gene Information
partner and localizer of BRCA2 [Source:HGNC Symbol;Acc:HGNC:26144]
PALB2 variants are associated with 5 diseases including familial pancreatic carcinoma and Fanconi anemia and 3 others, with 27 documented clinical phenotypes.
The PALB2 gene is associated with 5 medical conditions, including:
Research has identified 27 phenotypic features associated with PALB2 variants:
Epicanthus
HP:0000286
Unilateral renal agenesis
HP:0000122
Postnatal growth retardation
HP:0008897
Cafe-au-lait spot
HP:0000957
Microphthalmia
HP:0000568
Small for gestational age
HP:0001518
Short thumb
HP:0009778
Nephroblastoma
HP:0002667
Short neck
HP:0000470
Chromosomal breakage induced by crosslinking agents
HP:0003221
Ventricular septal defect
HP:0001629
Absent thumb
HP:0009777
Medulloblastoma
HP:0002885
Hyperpigmentation of the skin
HP:0000953
Neuroblastoma
HP:0003006
ClinVar contains 10 variants associated with PALB2. Below are some notable variants:
NM_024675.4(PALB2):c.2609del (p.Val870fs)
PathogenicVCV004526905
Review: criteria provided, single submitter
NM_024675.4(PALB2):c.1035_1038del (p.Lys346fs)
PathogenicVCV004526050
Review: criteria provided, single submitter
NM_024675.4(PALB2):c.1458del (p.Val487fs)
PathogenicVCV004294333
Review: criteria provided, single submitter
NM_024675.4(PALB2):c.355C>T (p.Gln119Ter)
PathogenicVCV004294293
Review: criteria provided, single submitter
NM_024675.4(PALB2):c.2368del (p.Gln790fs)
PathogenicVCV004294229
Review: criteria provided, single submitter
There are 1,016 publications about PALB2 indexed in PubMed. Below are some recent papers:
ASO Author Reflections: Risk Management Strategies for Older Women With Germline Pathogenic Variants in BRCA1/2 and PALB2.
Melanson A, Wong SM
PMID: 41241707
•
2025 Nov 15
•
Ann Surg Oncol
Generation of functional noncanonical donor splice sites by +2T variants in breast cancer susceptibility genes: impact on clinical interpretation.
Llinares-Burguet I, Sanoguera-Miralles L, Bueno-Martínez E
PMID: 41230741
•
2025 Nov 13
•
J Pathol
Case Report: Metachronous pancreatic adenocarcinoma following HER2-positive breast cancer and the implications of non-BRCA germline variants with TP53-mutant disease.
Chen J, Zhou HC, Fan MH
PMID: 41229501
•
2025
•
Front Oncol
PARP Inhibitors in Metastatic Castration-resistant Prostate Cancer: Rationale, Mechanisms, and Clinical Applications.
Oudard S, Timsit MO, Maillet D
PMID: 41219112
•
2025 Nov 10
•
Eur Urol Oncol
Integrating Pathogenic Variants, Polygenic Risk Score, and Family History for Prostate Cancer Risk Estimation in Men of African Ancestry.
Chen F, Sheng X, Wang A
PMID: 41219045
•
2025 Nov 5
•
Eur Urol
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Last updated: 11/20/2025