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NA14788 DNA from LCL

Description:

BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2; BROVCA2
BREAST CANCER 2, EARLY-ONSET; BRCA2

Affected:

Yes

Sex:

Female

Age:

36 YR (At Sampling)

  • Overview
  • Characterizations
  • Phenotypic Data
  • Publications
  • External Links

Overview

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Repository NIGMS Human Genetic Cell Repository
Subcollection Heritable Diseases
Hereditary Cancers
Class Heritable Cancer Syndromes and other Cancers
Quantity 25 µg
Quantitation Method Please see our FAQ
Biopsy Source Peripheral vein
Cell Type B-Lymphocyte
Tissue Type Blood
Transformant Epstein-Barr Virus
Sample Source DNA from LCL
Relation to Proband proband
Confirmation Molecular characterization after cell line submission to CCR
Species Homo sapiens
Common Name Human
Remarks Diagnosed with breast cancer at age 25; mother, grandmother, sister, and aunt had breast cancer; BRCA2 germline 4bp deletion in exon 9 (983del4) resulting in a frameshift at codon 252 terminating at codon 275 (D252fsX275)

Characterizations

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IDENTIFICATION OF SPECIES OF ORIGIN Species of Origin Confirmed by Nucleoside Phosphorylase, Glucose-6-Phosphate Dehydrogenase, and Lactate Dehydrogenase Isoenzyme Electrophoresis
 
Gene BRCA2
Chromosomal Location 13q13.1
Allelic Variant 1 ; BREAST CANCER 2, EARLY-ONSET
Identified Mutation 983del4

Phenotypic Data

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Remarks Diagnosed with breast cancer at age 25; mother, grandmother, sister, and aunt had breast cancer; BRCA2 germline 4bp deletion in exon 9 (983del4) resulting in a frameshift at codon 252 terminating at codon 275 (D252fsX275)

Publications

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Ho CC, Siu WY, Lau A, Chan WM, Arooz T, Poon RY, Stalled replication induces p53 accumulation through distinct mechanisms from DNA damage checkpoint pathways Cancer research66:2233-41 2006
PubMed ID: 16489026
 
Serova OM, Mazoyer S, Puget N, Dubois V, Tonin P, Shugart YY, Goldgar D, Narod SA, Lynch HT, Lenoir GM, Mutations in BRCA1 and BRCA2 in breast cancer families: are there more breast cancer-susceptibility genes? Am J Hum Genet60:486-95 1997
PubMed ID: 9042907

External Links

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dbSNP dbSNP ID: 12191
Gene Cards BRCA2
Gene Ontology GO:0000074 regulation of cell cycle
GO:0000724 double-strand break repair via homologous recombination
GO:0003676 nucleic acid binding
GO:0003697 single-stranded DNA binding
GO:0003713 transcription coactivator activity
GO:0005515 protein binding
GO:0005615 extracellular space
GO:0005634 nucleus
GO:0006281 DNA repair
GO:0006325 establishment and/or maintenance of chromatin architecture
GO:0006338 chromatin remodeling
GO:0007090 regulation of S phase of mitotic cell cycle
GO:0007093 mitotic checkpoint
GO:0030141 secretory granule
GO:0045449 regulation of transcription
NCBI Gene Gene ID:675
NCBI GTR 600185 BRCA2 GENE; BRCA2
612555 BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2; BROVCA2
OMIM 600185 BRCA2 GENE; BRCA2
612555 BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2; BROVCA2
Pricing
Commercial/For-profit:
$281.00USD
Academic/Non-profit/Government:
$139.00USD
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Same Subject
  • GM14788 - B-Lymphocyte
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