Abstract:
:It is well known that founder mutations associated with cancer risk have useful implications for molecular diagnostics. We report the presence of a founder mutation in EPCAM involved in the etiology of Lynch syndrome (LS). The mutation extends nearly 8.7 kb (c.858 + 2478_*4507del) and is shared by 8 Polish families. Family members suffered almost exclusively from colorectal cancer; however, pancreatic and gastric cancers were also apparent. Next to mutations c. 2041G>A in MLH1 gene and c.942+3A>T in MSH2, the deletion mutation encompassing EPCAM is one of the most common causative changes responsible for LS in Poland.
journal_name
Clin Genetjournal_title
Clinical geneticsauthors
Dymerska D,Gołębiewska K,Kuświk M,Rudnicka H,Scott RJ,Billings R,Pławski A,Boruń P,Siołek M,Kozak-Klonowska B,Szwiec M,Kilar E,Huzarski T,Byrski T,Lubiński J,Kurzawski Gdoi
10.1111/cge.13026subject
Has Abstractpub_date
2017-12-01 00:00:00pages
649-653issue
6eissn
0009-9163issn
1399-0004journal_volume
92pub_type
杂志文章abstract::The locus for a type of an autosomal recessive non-syndromic deafness (ARND), DFNB13, was previously mapped to a 17-cm interval of chromosome 7q34-36. We identified two consanguineous Tunisian families with severe to profound ARND. Linkage analyses with microsatellites surrounding the previously identified loci detect...
journal_title:Clinical genetics
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abstract::Fluorescent in situ hybridization with probes specific for a chromosomal subregion and chromosome-specific libraries (chromosome painting) are important new methods for assessing chromosome rearrangements. In this paper we present four patients with additional chromosomal material on chromosome 8p who have been studie...
journal_title:Clinical genetics
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更新日期:2017-08-01 00:00:00
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journal_title:Clinical genetics
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doi:10.1111/j.1399-0004.1990.tb03483.x
更新日期:1990-02-01 00:00:00
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journal_title:Clinical genetics
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更新日期:1984-01-01 00:00:00
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journal_title:Clinical genetics
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journal_title:Clinical genetics
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journal_title:Clinical genetics
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更新日期:1984-01-01 00:00:00
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更新日期:2000-05-01 00:00:00
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journal_title:Clinical genetics
pub_type: 杂志文章,评审
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更新日期:2017-09-01 00:00:00
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journal_title:Clinical genetics
pub_type: 杂志文章
doi:10.1111/j.1399-0004.1989.tb02959.x
更新日期:1989-05-01 00:00:00
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journal_title:Clinical genetics
pub_type: 杂志文章
doi:10.1111/j.1399-0004.2008.01101.x
更新日期:2009-02-01 00:00:00
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journal_title:Clinical genetics
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journal_title:Clinical genetics
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更新日期:2016-01-01 00:00:00
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pub_type: 杂志文章
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更新日期:2020-02-01 00:00:00
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doi:10.1111/j.1399-0004.1985.tb00203.x
更新日期:1985-02-01 00:00:00
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journal_title:Clinical genetics
pub_type: 杂志文章
doi:10.1111/j.1399-0004.1997.tb02495.x
更新日期:1997-06-01 00:00:00