PALB2 - Gene Detail

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Gene Symbol PALB2
Synonyms BROVCA5 | FANCN | PNCA3
Gene Description PALB2, partner and localizer of BRCA2, recruits Brca2 and Rad51 to repair DNA through homologous recombination (PMID: 24998779, PMID: 30638972). PALB2 loss of function mutations have been linked to hereditary breast cancer (PMID: 25135369) and male breast cancer (PMID: 31067289).
ACMG Incidental List v3.0:
Yes, Hereditary breast cancer (PMID: 34012068)
NCBI Gene ID Chromosome Map Location Canonical Transcript MANE Select Gene Role
79728 16 16p12.2 NM_024675 Y Tumor suppressor (PMID: 30606230)

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Variant Impact Protein Effect Variant Description Associated With Drug Resistance
Variant Impact Protein Effect Variant Description Associated With Drug Resistance
Molecular Profile Protein Effect Treatment Approaches
Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
Clinical Trial Phase Therapies Title Recruitment Status Covered Countries Other Countries