• delete

6503delTT AND Breast-ovarian cancer, familial 1

Clinical significance:Pathogenic (Last evaluated: Jul 7, 2008)

Review status:

classified by single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000031269.1

Allele description [Variation Report for ]

Gene:
BRCA1:breast cancer 1, early onset [Gene - OMIM]
Variant type:
Deletion
Cytogenetic location:
17q21
HGVS:
    Nucleotide change:
    6503delTT
    Observations:
    1

    Condition(s)

    Name:
    Breast-ovarian cancer, familial 1 (BROVCA1)
    Synonyms:
    BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1; OVARIAN CANCER, SUSCEPTIBILITY TO; BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1; See all synonyms [MedGen]
    Identifiers:
    MedGen: C2676676; OMIM: 604370; Orphanet: 145
    Age of onset:
    Variable
    Prevalence:
    • 1-5 / 10 000 Orphanet: 145
    • Hereditary breast and ovarian cancer (HBOC) resulting from mutations in BRCA1 and BRCA2 is the most common form of both hereditary breast and ovarian cancers and occurs in all ethnic and racial populations. The overall prevalence of BRCA1/2 mutations is estimated to be from 1:400 to 1:800 [Ford et al 1994, Claus et al 1996, Whittemore et al 1997], but varies depending on ethnicity. http://www.ncbi.nlm.nih.gov/books/NBK1247/

    Assertion and evidence details

    Submission AccessionSubmitterReview StatusClinical Significance
    (Last evaluated)
    OriginMethodConsequenceCitations
    SCV000053874Sharing Clinical Reports Project (SCRP)classified by single submitterpathogenic
    (Jul 7, 2008)
    not providedclinical testing

    Summary from all submissions

    EthnicityOriginAffectedAlleles observedFamiliesChromosomes testedNumber TestedFamily historyMethod
    not providednot providednot provided1not providednot provided1not providedclinical testing

    Details of each submission

    From Sharing Clinical Reports Project (SCRP), SCV000053874.1

    #EthnicityAlleles ObservedChromosomes TestedFamily HistoryMethodCitations
    1not provided1not providednot providedclinical testingnot provided
    #SampleMethodObservation
    OriginAffectedNumber testedTissuePurposeMethodVariant allelesAllele frequencyFamiliesCo-occurrences
    1not providednot provided1not providednot providednot providednot providednot providednot provided

    Last Updated: Nov 19, 2013

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