PALB2 R170fs
Gene Variant Detail

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Gene PALB2
Variant R170fs
Impact List frameshift
Protein Effect loss of function - predicted
Gene Variant Descriptions PALB2 R170fs results in a change in the amino acid sequence of the Palb2 protein beginning at aa 170 of 1186, likely resulting in premature truncation of the functional protein (UniProt.org). R170fs has not been characterized however, due to the effects of other truncation mutations downstream of R170fs (PMID: 31636395, PMID: 31757951), is predicted to lead to a loss of Palb2 protein function.
Associated Drug Resistance
Category Variants Paths

PALB2 mutant PALB2 inact mut PALB2 R170fs

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Transcript NM_024675.4
gDNA chr16:g.(23636038_23636039)
cDNA c.(508_507)
Protein p.R170fs
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001407297.1 chr16:g.(23636038_23636039) c.(508_507) p.R170fs RefSeq GRCh38/hg38
NM_001407301.1 chr16:g.(23636038_23636039) c.(508_507) p.R170fs RefSeq GRCh38/hg38
NM_024675.4 chr16:g.(23636038_23636039) c.(508_507) p.R170fs RefSeq GRCh38/hg38
NM_001407302.1 chr16:g.(23636038_23636039) c.(508_507) p.R170fs RefSeq GRCh38/hg38
NM_001407300.1 chr16:g.(23636038_23636039) c.(508_507) p.R170fs RefSeq GRCh38/hg38
NM_001407299.1 chr16:g.(23636038_23636039) c.(508_507) p.R170fs RefSeq GRCh38/hg38
NM_001407298.1 chr16:g.(23636038_23636039) c.(508_507) p.R170fs 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 R170fs bladder urachal adenocarcinoma predicted - sensitive Talazoparib Case Reports/Case Series Actionable In a Phase II trial, Talzenna (talazoparib) treatment resulted in a clinical benefit rate (CBR) of 22.8% (18/79, 1 complete and 7 partial responses, 10 with stable disease >/=24 weeks) in patients with advanced solid tumors harboring mutations in DNA damage repair genes, including a partial response lasting 17 weeks in a urachal adenocarcinoma patient harboring PALB2 R170fs14 (PMID: 39085400; NCT02286687). 39085400