About: An Alu-mediated 7.1 kb deletion of BRCA1 exons 8 and 9 in breast and ovarian cancer families that results in alternative splicing of exon 10

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About: An Alu-mediated 7.1 kb deletion of BRCA1 exons 8 and 9 in breast and ovarian cancer families that results in alternative splicing of exon 10 Goto Sponge NotDistinct Permalink

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scientific article published on 01 July 2000

Attributes	Values
rdf:type	Item
description	wetenschappelijk artikel (nl) наукова стаття, опублікована в липні 2000 (uk) im Juli 2000 veröffentlichter wissenschaftlicher Artikel (de) artículu científicu espublizáu en xunetu de 2000 (ast) scientific article published on 01 July 2000 (en)
publication date	wds:Q73912443-478960F3-B1EC-4F72-9FC8-DFC0275493F4
publication date	2000-07-01 00:00:00Z (xsd:dateTime)
cites work	wds:Q73912443-1BE0B991-A29A-4117-BC83-E340E5A84C3E wds:Q73912443-2DDF6D7B-E0E8-4FF1-9048-5880B858F817 wds:Q73912443-39550DC5-1CEC-47EC-BFEF-3AEC03F92767 wds:Q73912443-4434B363-459B-4C16-B2FE-2352BB670096 wds:Q73912443-4994B207-D418-454A-83E4-3247E7E9010C wds:Q73912443-53C3FC76-667F-49E7-8874-A6907438B933 wds:Q73912443-5E839193-5CFD-43AD-A557-CF584332AD86 wds:Q73912443-65417561-0D86-46C0-9E72-0D05E2C75B62 wds:Q73912443-9B0C4600-5DF8-4196-A110-882AC0E6A161 wds:Q73912443-A83C4545-0898-450A-8058-7648EDA115C2 wds:Q73912443-CAD0791A-B99B-4304-A39E-F3650D5D0657
cites work	Identification of a 3 kb Alu-mediated BRCA1 gene rearrangement in two breast/ovarian cancer families Protein truncation test (PTT) for rapid detection of translation-terminating mutations An Alu-mediated 6-kb duplication in the BRCA1 gene: a new founder mutation? Complete genomic sequence and analysis of 117 kb of human DNA containing the gene BRCA1 Genetic heterogeneity and penetrance analysis of the BRCA1 and BRCA2 genes in breast cancer families. The Breast Cancer Linkage Consortium Charcot-Marie-Tooth type 1A duplication appears to arise from recombination at repeat sequences flanking the 1.5 Mb monomer unit A simple salting out procedure for extracting DNA from human nucleated cells Mutation in LDL receptor: Alu-Alu recombination deletes exons encoding transmembrane and cytoplasmic domains Identification of a 14 kb deletion involving the promoter region of BRCA1 in a breast cancer family BRCA1 genomic deletions are major founder mutations in Dutch breast cancer patients Structural alterations of the BCR and ABL genes in Ph1 positive acute leukemias with rearrangements in the BCR gene first intron: further evidence implicating Alu sequences in the chromosome translocation
author name string	wds:Q73912443-28FA20AA-4094-47AB-A1F8-727A9609031A wds:Q73912443-2DE4DE7F-BE1C-4BAD-A43E-95F81B1F1AAA wds:Q73912443-40B88905-4687-47B7-84FB-1DE912A4792A wds:Q73912443-7E565452-B5E5-4D3A-B998-934AA982935A wds:Q73912443-BA1FFF78-B572-4DD6-AE15-926A61DB3246 wds:Q73912443-D45D5354-3C2C-4247-A4A8-2E6D7770BB8D wds:Q73912443-DD8EEF05-81A4-45B0-8842-47AEA567369A wds:Q73912443-DEE91169-ED38-4B30-8E38-143D389C12BA wds:Q73912443-FD794771-A73A-4DD3-AD50-3BA0D7519AF3
author name string	J L Halperin B L Weber G M Lenoir C Skrzynia L M Silverman J E Garber E M Rohlfs M L Graham N Puget
rdfs:label	An Alu-mediated 7.1 kb deletion of BRCA1 exons 8 and 9 in breast and ovarian cancer families that results in alternative splicing of exon 10 (en) An Alu-mediated 7.1 kb deletion of BRCA1 exons 8 and 9 in breast and ovarian cancer families that results in alternative splicing of exon 10 (nl)
skos:prefLabel	An Alu-mediated 7.1 kb deletion of BRCA1 exons 8 and 9 in breast and ovarian cancer families that results in alternative splicing of exon 10 (en) An Alu-mediated 7.1 kb deletion of BRCA1 exons 8 and 9 in breast and ovarian cancer families that results in alternative splicing of exon 10 (nl)
name	An Alu-mediated 7.1 kb deletion of BRCA1 exons 8 and 9 in breast and ovarian cancer families that results in alternative splicing of exon 10 (en) An Alu-mediated 7.1 kb deletion of BRCA1 exons 8 and 9 in breast and ovarian cancer families that results in alternative splicing of exon 10 (nl)
author	wds:Q73912443-E949671C-D235-4C8C-89A8-35FEE96D16E3
author	Sylvie Mazoyer
title	wds:Q73912443-BB4AE06E-5264-4CF1-93A8-C8AD8C341DBC
title	An Alu-mediated 7.1 kb deletion of BRCA1 exons 8 and 9 in breast and ovarian cancer families that results in alternative splicing of exon 10 (en)
page(s)	wds:Q73912443-EE9405DE-7C13-4E7F-8D3C-D0BE8FA99863
page(s)	300-307
instance of	wds:Q73912443-8BF1245B-39CE-44F0-B291-70AEBE1899FA
instance of	scholarly article
main subject	wds:Q73912443-CCBEDA44-507D-4BC8-BF8A-066C5D188E0D wds:Q73912443-E9D51912-7610-4D34-A0E8-233C041894CB
main subject	ovarian neoplasm alternative mRNA splicing, via spliceosome
PubMed ID	wds:Q73912443-481BD8F7-79B1-45F6-A918-9489383CF202
PubMed ID	http://rdf.ncbi.nlm.nih.gov/pubchem/reference/10862036
PubMed ID	10862036
published in	wds:Q73912443-6244C632-A1D9-4250-A120-F98C4B34C232
published in	Genes, Chromosomes and Cancer
issue	wds:Q73912443-2F020171-8E27-4943-8B2D-73328E8A1E0E
volume	wds:Q73912443-480C7C1A-792A-4B47-AB72-BDA2BC708B50
issue	3
volume	28
DOI	wds:Q73912443-D0ECD15C-0751-4DBA-9934-D24A4811F09A
DOI	http://dx.doi.org/10.1002/1098-2264(200007)28:3%3C300::AID-GCC8%3E3.0.CO;2-1
DOI	10.1002/1098-2264(200007)28:3<300::AID-GCC8>3.0.CO;2-1
is about of	https://www.wikidata.org/wiki/Special:EntityData/Q73912443
is cites work of	BRCA1 and BRCA2 mutations account for a large proportion of ovarian carcinoma cases Rapid detection of novel BRCA1 rearrangements in high-risk breast-ovarian cancer families using multiplex PCR of short fluorescent fragments The relative contribution of point mutations and genomic rearrangements in BRCA1 and BRCA2 in high-risk breast cancer families The role of Alu repeat clusters as mediators of recurrent chromosomal aberrations in tumors Color bar coding the BRCA1 gene on combed DNA: a useful strategy for detecting large gene rearrangements Genomic rearrangements in the BRCA1 and BRCA2 genes. Distinct BRCA1 rearrangements involving the BRCA1 pseudogene suggest the existence of a recombination hot spot BRCA1 and BRCA2: 1994 and beyond Screening for genomic rearrangements in families with breast and ovarian cancer identifies BRCA1 mutations previously missed by conformation-sensitive gel electrophoresis or sequencing Significant contribution of large BRCA1 gene rearrangements in 120 French breast and ovarian cancer families Human genomic deletions mediated by recombination between Alu elements. The exon 13 duplication in the BRCA1 gene is a founder mutation present in geographically diverse populations. The BRCA1 Exon 13 Duplication Screening Group A deletion/insertion mutation in the BRCA2 gene in a breast cancer family: a possible role of the Alu-polyA tail in the evolution of the deletion Increased recombination between active tRNA genes Improved survival in BRCA2 carriers with ovarian cancer BRCA1 and BRCA2 germline mutation spectrum and frequencies in Belgian breast/ovarian cancer families High-frequency Alu-mediated genomic recombination/deletion within the caspase-activated DNase gene in human hepatoma The BRCA1 exon 13 duplication in the Swedish population Prevalence of five previously reported and recurrent BRCA1 genetic rearrangement mutations in 20,000 patients from hereditary breast/ovarian cancer families Large deletions of the MECP2 gene detected by gene dosage analysis in patients with Rett syndrome. Germline sequence variants of the LZTS1 gene are associated with prostate cancer risk

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