Abstract:
BACKGROUND:General practitioners (GPs) have an increasing role in referring patients with putative mutation in BRCA1/2 genes for genetics consultation and for long-term follow-up of mutation carriers. METHODS:We compared the expectations of the GPs' role according to BRCA1/2 mutation carriers and to GPs themselves. RESULTS:Overall, 38% (58/152) of eligible GPs and 70% (176/252) of eligible patients were surveyed. Although 81% of GPs collected the family history, only 24% considered that they know criteria indicating genetics consultation and 39% sufficient knowledge of BRCA1/2 guidelines to answer patients' questions. Twelve% of GPs were aware of the French national guidelines. Among unsatisfied patients, 40% felt that their GP was able to answer (moderately, sufficiently, or completely) specific questions about BRCA1/2 care as compared with 81% in satisfied patients. Only 33% of GPs reported being informed directly by the geneticist about the patients' results. GPs' main expectations for their role in BRCA1/2 carrier care were psychological support and informing relatives about screening (72% and 71%, respectively), which contrasts with the perceptions of patients, who mainly requested medical advice for BRCA1/2-related care (51%). CONCLUSION:There is an important need for GP training and enhancing interactions between GPs and geneticists to improve the GP's role in BRCA1/2 screening and management.
journal_name
Mol Genet Genomic Medjournal_title
Molecular genetics & genomic medicineauthors
Vande Perre P,Toledano D,Corsini C,Escriba E,Laporte M,Bertet H,Yauy K,Toledano A,Galibert V,Baudry K,Clotet L,Million E,Picot MC,Geneviève D,Pujol Pdoi
10.1002/mgg3.464subject
Has Abstractpub_date
2018-11-01 00:00:00pages
957-965issue
6issn
2324-9269journal_volume
6pub_type
临床试验,杂志文章abstract::Point mutations in intronic regions near mRNA splice junctions can affect the splicing process. To identify novel splicing variants from exome sequencing data, we developed a bioinformatics splice-site prediction procedure to analyze next-generation sequencing (NGS) data (SpliceFinder). SpliceFinder integrates two fun...
journal_title:Molecular genetics & genomic medicine
pub_type: 杂志文章
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更新日期:2013-11-01 00:00:00
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journal_title:Molecular genetics & genomic medicine
pub_type: 杂志文章
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更新日期:2019-07-01 00:00:00
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journal_title:Molecular genetics & genomic medicine
pub_type: 杂志文章
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journal_title:Molecular genetics & genomic medicine
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pub_type: 杂志文章
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journal_title:Molecular genetics & genomic medicine
pub_type: 杂志文章
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更新日期:2019-06-01 00:00:00
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更新日期:2014-01-01 00:00:00
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journal_title:Molecular genetics & genomic medicine
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更新日期:2016-06-07 00:00:00
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journal_title:Molecular genetics & genomic medicine
pub_type: 评论,信件
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更新日期:2019-04-01 00:00:00
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journal_title:Molecular genetics & genomic medicine
pub_type: 杂志文章
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更新日期:2017-03-30 00:00:00
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journal_title:Molecular genetics & genomic medicine
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更新日期:2019-08-01 00:00:00
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pub_type: 杂志文章
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更新日期:2020-09-01 00:00:00
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journal_title:Molecular genetics & genomic medicine
pub_type: 杂志文章
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更新日期:2016-11-30 00:00:00
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journal_title:Molecular genetics & genomic medicine
pub_type: 杂志文章
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更新日期:2019-05-01 00:00:00
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pub_type: 杂志文章
doi:10.1002/mgg3.476
更新日期:2019-01-01 00:00:00