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PALB2, 1-BP DEL, 3116A AND Pancreatic cancer 3

Clinical significance:risk factor (Last evaluated: Apr 17, 2012)

Review status:(1/4)1 star out of maximum of 4 stars

classified by single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000030870.1

Allele description [Variation Report for PALB2, 1-BP DEL, 3116A]

Gene:
PALB2:partner and localizer of BRCA2 [Gene - OMIM]
Variant type:
Deletion
Cytogenetic location:
16p12
HGVS:
    Nucleotide change:
    1-BP DEL, 3116A
    Links:
    OMIM: 610355.0005; OMIM: 610355.0009

    Condition(s)

    Name:
    Pancreatic cancer 3 (PNCA3)
    Synonyms:
    PANCREATIC CANCER, SUSCEPTIBILITY TO, 3
    Identifiers:
    MedGen: C3150547; OMIM: 613348; Orphanet: 1333
    Age of onset:
    Adulthood
    Prevalence:
    1-9 / 1 000 000 1333

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    Assertion and evidence details

    Submission AccessionSubmitterReview StatusClinical Significance
    (Last evaluated)
    OriginMethodConsequenceCitations
    SCV000021463OMIMrisk factor
    (Apr 17, 2012)
    germlineliterature only

    PubMed (1)
    [See all records that cite this PMID]

    Summary from all submissions

    EthnicityOriginAffectedAlleles observedFamiliesChromosomes testedNumber TestedFamily historyMethod
    not providedgermlinenot providednot providednot providednot providednot providednot providedliterature only

    Citations

    PubMed

    Exomic sequencing identifies PALB2 as a pancreatic cancer susceptibility gene.

    Jones S, Hruban RH, Kamiyama M, Borges M, Zhang X, Parsons DW, Lin JC, Palmisano E, Brune K, Jaffee EM, Iacobuzio-Donahue CA, Maitra A, Parmigiani G, Kern SE, Velculescu VE, Kinzler KW, Vogelstein B, Eshleman JR, Goggins M, Klein AP.

    Science. 2009 Apr 10;324(5924):217. doi: 10.1126/science.1171202. Epub 2009 Mar 5.

    PubMed [citation]
    PMID:
    19264984
    PMCID:
    PMC2684332

    Details of each submission

    From OMIM, SCV000021463.1

    #EthnicityAlleles ObservedChromosomes TestedFamily HistoryMethodCitations
    1not providednot providednot providednot providedliterature only PubMed (1)

    Description

    In a patient with familial pancreatic cancer (PNCA3; 613348), Jones et al. (2009) identified a heterozygous germline deletion of adenine at nucleotide 3116 in exon 11 of the PALB2 gene.

    #SampleMethodObservation
    OriginAffectedNumber testedTissuePurposeMethodVariant allelesAllele frequencyFamiliesCo-occurrences
    1germlinenot providednot providednot providednot providednot providednot providednot providednot provided

    Last Updated: May 22, 2014

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