About: Identification of a novel splice-site mutation of the BRCA1 gene in two breast cancer families: screening reveals low frequency in Icelandic breast cancer patients

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About: Identification of a novel splice-site mutation of the BRCA1 gene in two breast cancer families: screening reveals low frequency in Icelandic breast cancer patients Goto Sponge NotDistinct Permalink

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rdf:type	Item
description	article (en) wetenschappelijk artikel (nl) наукова стаття, опублікована в 1998 (uk) im Jahr 1998 veröffentlichter wissenschaftlicher Artikel (de)
publication date	wds:Q57419183-D2E765E2-809A-45A1-9835-CF638EAD99C6
publication date	1998-01-01 00:00:00Z (xsd:dateTime)
language of work or name	wds:Q57419183-68EEB437-35F9-408F-AD32-B201111042EA
language of work or name	English
cites work	wds:Q57419183-1F448086-FB32-440E-B22C-5BE8A6677C75 wds:Q57419183-7629D5EC-32FB-4D3B-AA2F-0886E371F06F wds:Q57419183-7B2D0BA9-4734-4AE1-B8E5-E82537BFFC20 wds:Q57419183-8A3B1487-AE31-4AD5-B0E6-832C3DFF4EA3 wds:Q57419183-D00CCAAC-E44C-422E-A3E7-6B4C3D2FF026
cites work	A collaborative survey of 80 mutations in the BRCA1 breast and ovarian cancer susceptibility gene. Implications for presymptomatic testing and screening A strong candidate for the breast and ovarian cancer susceptibility gene BRCA1 Identification of the breast cancer susceptibility gene BRCA2 The mutational spectrum of single base-pair substitutions in mRNA splice junctions of human genes: causes and consequences Chromosome 17q-linkage seems to be infrequent in Icelandic families at risk of breast cancer
author name string	wds:Q57419183-0F1F247A-70FC-49D9-AD09-CA5FB967127D wds:Q57419183-1B18C7CE-46EB-4BF1-90CF-EB7F94CDD778 wds:Q57419183-29D05D68-F6F1-472C-9F97-D603DEE94AFD wds:Q57419183-37915589-4270-4690-80E6-734D26D88DC9 wds:Q57419183-38056B5D-DB6A-4AC3-B62A-34925FFF0E00 wds:Q57419183-942096B1-CAEA-4718-9E68-7CE08352C326 wds:Q57419183-C7E9E7B9-AA1E-4C75-9F7B-EEE9AA9915D3 wds:Q57419183-F5EB8884-91D9-4A4D-9A69-A9DBF20F7C75
author name string	S Gayther A Borg A Arason V Egilsson G Johannesdottir R B Barkardottir A Jonasdottir S Hakanson
rdfs:label	Identification of a novel splice-site mutation of the BRCA1 gene in two breast cancer families: screening reveals low frequency in Icelandic breast cancer patients (en) Identification of a novel splice-site mutation of the BRCA1 gene in two breast cancer families: screening reveals low frequency in Icelandic breast cancer patients (nl)
skos:prefLabel	Identification of a novel splice-site mutation of the BRCA1 gene in two breast cancer families: screening reveals low frequency in Icelandic breast cancer patients (en) Identification of a novel splice-site mutation of the BRCA1 gene in two breast cancer families: screening reveals low frequency in Icelandic breast cancer patients (nl)
name	Identification of a novel splice-site mutation of the BRCA1 gene in two breast cancer families: screening reveals low frequency in Icelandic breast cancer patients (en) Identification of a novel splice-site mutation of the BRCA1 gene in two breast cancer families: screening reveals low frequency in Icelandic breast cancer patients (nl)
author	wds:Q57419183-4B9B0662-038F-4F63-B9C1-74F5C5F6E0AA wds:Q57419183-4E5819FD-3DE7-4428-8113-293BB255C6BB
author	Jon T Bergthorsson Sigurður Ingvarsson
title	wds:Q57419183-6535B8EB-27F4-4CC6-AC1E-F8DD5796C313
title	Identification of a novel splice-site mutation of the BRCA1 gene in two breast cancer families: screening reveals low frequency in Icelandic breast cancer patients (en)
page(s)	wds:Q57419183-7FD89954-FFD9-4949-84C5-CADD81A34FA8
page(s)	S195-7
instance of	wds:Q57419183-94E90ABE-5F5C-42F8-B71E-3540B49E13C2
instance of	scholarly article
main subject	wds:Q57419183-49F2D5F9-9980-4014-AD62-E14A68E5DB1F wds:Q57419183-63D636CA-DD73-42B7-931D-C2E153BC0700 wds:Q57419183-7F365D44-CA54-4BD7-BE0B-B918E3489F1D
main subject	breast cancer Island BRCA1 Mutation
PubMed ID	wds:Q57419183-7BB3CD26-C7CD-478E-B1FA-A8089CFD886C
PubMed ID	http://rdf.ncbi.nlm.nih.gov/pubchem/reference/9452084
PubMed ID	9452084
published in	wds:Q57419183-26738725-FA72-4833-94C5-69FD6680612B
published in	Human Mutation
volume	wds:Q57419183-90F3D967-64BD-494A-9260-F5669AAE6F7B
volume	Suppl 1
DOI	wds:Q57419183-981773F3-BEC6-4D1A-858C-52E980E2E720
DOI	http://dx.doi.org/10.1002/HUMU.1380110163
DOI	10.1002/HUMU.1380110163
is about of	https://www.wikidata.org/wiki/Special:EntityData/Q57419183
is cites work of	Population-based study of risk of breast cancer in carriers of BRCA2 mutation CpG island hypermethylation of BRCA1 and loss of pRb as co-occurring events in basal/triple-negative breast cancer Genomic profiling of breast tumours in relation to BRCA abnormalities and phenotypes Epigenetic silencing and deletion of the BRCA1 gene in sporadic breast cancer Identification of the prevalent BRCA1 and BRCA2 mutations in the female population of Puerto Rico Haplotype analysis in Icelandic and Finnish BRCA2 999del5 breast cancer families. Splicing analysis of 14 BRCA1 missense variants classifies nine variants as pathogenic CYP17 promoter polymorphism and breast cancer risk in males and females in relation to BRCA2 status The effect of a single BRCA2 mutation on cancer in Iceland The BARD1 Cys557Ser variant and breast cancer risk in Iceland Genome-wide search for breast cancer linkage in large Icelandic non-BRCA1/2 families Mutational Spectrum in a Worldwide Study of 29,700 Families with BRCA1 or BRCA2 Mutations. Selection for EGFR gene amplification in a breast epithelial cell line with basal-like phenotype and hereditary background. Evidence against PALB2 involvement in Icelandic breast cancer susceptibility BRCA1 Promoter Methylation Status in 1031 Primary Breast Cancers Predicts Favorable Outcomes Following Chemotherapy
is cites work of	wds:Q35605804-14855B30-ECFC-4FB5-91C6-AA5412BB98B8 wds:Q35203528-04659EDE-60D1-4701-B321-EFCDBF1DCC91 wds:Q57250754-1BB07067-F21E-42EC-9109-94BFF6D917CA wds:Q90349032-DE564656-B7A7-4FD6-822B-A630DA060147 wds:Q33246499-5721BC00-D8FC-4A5D-AA92-1C9EA28A1B95 wds:Q35440029-E69659E7-93F1-4B86-8957-5DF6D4E99B73 wds:Q34173446-C34EC083-0EE7-47DA-AAA7-7D7533EBB0D7 wds:Q37360179-9DD29853-E276-441B-8F1F-CF590C8213BE wds:Q36849117-7F6E98D0-2230-41D0-A14A-A0525C904208 wds:Q35064727-ECA02880-BE2F-4B3D-BBF3-22F7F861E20C wds:Q36648775-B8439156-9E80-461D-87A9-A94AE80C4057 wds:Q39630929-AC8A0E75-038A-40F4-87A2-77018F8BE484 wds:Q47590356-02A5C918-47A3-437C-B2E4-4E5B41593FD9 wds:Q36800754-B9642558-7E65-465E-A333-3502893DBB4D wds:Q49024646-62A75355-2935-42C3-BB9C-91005468BF3D

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