PALB2 L1142Yfs*21
Gene Variant Detail

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Gene PALB2
Variant L1142Yfs*21
Impact List frameshift
Protein Effect loss of function - predicted
Gene Variant Descriptions PALB2 L1142Yfs*21 indicates a shift in the reading frame starting at amino acid 1142 and terminating 21 residues downstream causing a premature truncation of the 1186 amino acid Palb2 protein (UniProt.org). L1142Yfs*21 has not been characterized, however, due to the effects of other truncation mutations downstream of L1142 (PMID: 31757951, PMID: 31636395), is predicted to lead to a loss of Palb2 protein function.
Associated Drug Resistance
Category Variants Paths

PALB2 mutant PALB2 inact mut PALB2 L1142Yfs*21

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Transcript NM_024675.4
gDNA chr16:g.23603596delA
cDNA c.3425delT
Protein p.L1142Yfs*21
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_024675.4 chr16:g.23603596delA c.3425delT p.L1142Yfs*21 RefSeq GRCh38/hg38

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  • Use simple literal full or partial string matches
  • Separate multiple filter terms with a space. Any order may be used (i. e. a b c and c b a are equivalent )
  • Filtering will only apply to rows that are already loaded on the page. Filtering has no impact on query parameters.
  • Use quotes to match on a longer phrase with spaces (i.e. "mtor c1483f")

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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
PALB2 L1142Yfs*21 breast carcinoma predicted - sensitive Olaparib Case Reports/Case Series Actionable In a Phase II trial, treatment with Lynparza (olaparib) resulted in an objective response rate of 25.0% (2/8) and clinical benefit rate of 50.0% in advanced solid tumor patients harboring PALB2 mutations, including a partial response in a patient with breast carcinoma harboring PALB2 L1142Yfs*21 (reported as c.3424del) (PMID: 42105598). 42105598