Some aspects of molecular diagnostics in Lynch syndrome

Abstract This manuscript is composed of five parts which summarize five publications in succession. Essentially, they are concerned with molecular diagnostics of Lynch syndrome and are based on studies in 238 families. The finding that young age at diagnosis is the key feature in patients with MSH2...
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Autor*in:	Kurzawski, Grzegorz [verfasserIn]

Format:	E-Artikel
Sprache:	Englisch

Erschienen:	2006

Schlagwörter:	diagnostic criteria molecular diagnostics germline and mutations

Anmerkung:	© The Author(s) 2006

Übergeordnetes Werk:	Enthalten in: Hereditary cancer in clinical practice - Berlin : Springer, 2003, 4(2006), 4 vom: 15. Dez.
Übergeordnetes Werk:	volume:4 ; year:2006 ; number:4 ; day:15 ; month:12

Links:	Volltext

DOI / URN:	10.1186/1897-4287-4-4-197

Katalog-ID:	SPR029720192

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allfields	10.1186/1897-4287-4-4-197 doi (DE-627)SPR029720192 (SPR)1897-4287-4-4-197-e DE-627 ger DE-627 rakwb eng Kurzawski, Grzegorz verfasserin aut Some aspects of molecular diagnostics in Lynch syndrome 2006 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier © The Author(s) 2006 Abstract This manuscript is composed of five parts which summarize five publications in succession. Essentially, they are concerned with molecular diagnostics of Lynch syndrome and are based on studies in 238 families. The finding that young age at diagnosis is the key feature in patients with MSH2 and MLH1 mutations (Part 1) has helped to define simple criteria for the preliminary diagnosis of this syndrome. A cheaper method for the detection of mutations has been developed (Part 2) and applied to study the types of mutations and their prevalence in Poland (Part 3) and the Baltic States (Part 4). A specific feature of these mutations, i.e. presence of recurrent mutations in the majority of affected families with mutations, has suggested the feasibility of effective diagnostics with a single test disclosing all of them. An attempt to reveal other causes of familial aggregation of colorectal cancer has ruled out any association with C insertion in the NOD2 gene (Part 5). diagnostic criteria (dpeaa)DE-He213 molecular diagnostics (dpeaa)DE-He213 germline (dpeaa)DE-He213 and (dpeaa)DE-He213 mutations (dpeaa)DE-He213 Enthalten in Hereditary cancer in clinical practice Berlin : Springer, 2003 4(2006), 4 vom: 15. Dez. (DE-627)511229925 (DE-600)2233352-6 1897-4287 nnns volume:4 year:2006 number:4 day:15 month:12 https://dx.doi.org/10.1186/1897-4287-4-4-197 kostenfrei Volltext GBV_USEFLAG_A SYSFLAG_A GBV_SPRINGER SSG-OLC-PHA GBV_ILN_11 GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_73 GBV_ILN_74 GBV_ILN_95 GBV_ILN_105 GBV_ILN_110 GBV_ILN_151 GBV_ILN_161 GBV_ILN_170 GBV_ILN_206 GBV_ILN_213 GBV_ILN_230 GBV_ILN_285 GBV_ILN_293 GBV_ILN_602 GBV_ILN_2003 GBV_ILN_2007 GBV_ILN_2014 GBV_ILN_4012 GBV_ILN_4037 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4249 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4338 GBV_ILN_4367 GBV_ILN_4700 AR 4 2006 4 15 12
spelling	10.1186/1897-4287-4-4-197 doi (DE-627)SPR029720192 (SPR)1897-4287-4-4-197-e DE-627 ger DE-627 rakwb eng Kurzawski, Grzegorz verfasserin aut Some aspects of molecular diagnostics in Lynch syndrome 2006 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier © The Author(s) 2006 Abstract This manuscript is composed of five parts which summarize five publications in succession. Essentially, they are concerned with molecular diagnostics of Lynch syndrome and are based on studies in 238 families. The finding that young age at diagnosis is the key feature in patients with MSH2 and MLH1 mutations (Part 1) has helped to define simple criteria for the preliminary diagnosis of this syndrome. A cheaper method for the detection of mutations has been developed (Part 2) and applied to study the types of mutations and their prevalence in Poland (Part 3) and the Baltic States (Part 4). A specific feature of these mutations, i.e. presence of recurrent mutations in the majority of affected families with mutations, has suggested the feasibility of effective diagnostics with a single test disclosing all of them. An attempt to reveal other causes of familial aggregation of colorectal cancer has ruled out any association with C insertion in the NOD2 gene (Part 5). diagnostic criteria (dpeaa)DE-He213 molecular diagnostics (dpeaa)DE-He213 germline (dpeaa)DE-He213 and (dpeaa)DE-He213 mutations (dpeaa)DE-He213 Enthalten in Hereditary cancer in clinical practice Berlin : Springer, 2003 4(2006), 4 vom: 15. Dez. (DE-627)511229925 (DE-600)2233352-6 1897-4287 nnns volume:4 year:2006 number:4 day:15 month:12 https://dx.doi.org/10.1186/1897-4287-4-4-197 kostenfrei Volltext GBV_USEFLAG_A SYSFLAG_A GBV_SPRINGER SSG-OLC-PHA GBV_ILN_11 GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_73 GBV_ILN_74 GBV_ILN_95 GBV_ILN_105 GBV_ILN_110 GBV_ILN_151 GBV_ILN_161 GBV_ILN_170 GBV_ILN_206 GBV_ILN_213 GBV_ILN_230 GBV_ILN_285 GBV_ILN_293 GBV_ILN_602 GBV_ILN_2003 GBV_ILN_2007 GBV_ILN_2014 GBV_ILN_4012 GBV_ILN_4037 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4249 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4338 GBV_ILN_4367 GBV_ILN_4700 AR 4 2006 4 15 12
allfields_unstemmed	10.1186/1897-4287-4-4-197 doi (DE-627)SPR029720192 (SPR)1897-4287-4-4-197-e DE-627 ger DE-627 rakwb eng Kurzawski, Grzegorz verfasserin aut Some aspects of molecular diagnostics in Lynch syndrome 2006 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier © The Author(s) 2006 Abstract This manuscript is composed of five parts which summarize five publications in succession. Essentially, they are concerned with molecular diagnostics of Lynch syndrome and are based on studies in 238 families. The finding that young age at diagnosis is the key feature in patients with MSH2 and MLH1 mutations (Part 1) has helped to define simple criteria for the preliminary diagnosis of this syndrome. A cheaper method for the detection of mutations has been developed (Part 2) and applied to study the types of mutations and their prevalence in Poland (Part 3) and the Baltic States (Part 4). A specific feature of these mutations, i.e. presence of recurrent mutations in the majority of affected families with mutations, has suggested the feasibility of effective diagnostics with a single test disclosing all of them. An attempt to reveal other causes of familial aggregation of colorectal cancer has ruled out any association with C insertion in the NOD2 gene (Part 5). diagnostic criteria (dpeaa)DE-He213 molecular diagnostics (dpeaa)DE-He213 germline (dpeaa)DE-He213 and (dpeaa)DE-He213 mutations (dpeaa)DE-He213 Enthalten in Hereditary cancer in clinical practice Berlin : Springer, 2003 4(2006), 4 vom: 15. Dez. (DE-627)511229925 (DE-600)2233352-6 1897-4287 nnns volume:4 year:2006 number:4 day:15 month:12 https://dx.doi.org/10.1186/1897-4287-4-4-197 kostenfrei Volltext GBV_USEFLAG_A SYSFLAG_A GBV_SPRINGER SSG-OLC-PHA GBV_ILN_11 GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_73 GBV_ILN_74 GBV_ILN_95 GBV_ILN_105 GBV_ILN_110 GBV_ILN_151 GBV_ILN_161 GBV_ILN_170 GBV_ILN_206 GBV_ILN_213 GBV_ILN_230 GBV_ILN_285 GBV_ILN_293 GBV_ILN_602 GBV_ILN_2003 GBV_ILN_2007 GBV_ILN_2014 GBV_ILN_4012 GBV_ILN_4037 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4249 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4338 GBV_ILN_4367 GBV_ILN_4700 AR 4 2006 4 15 12
allfieldsGer	10.1186/1897-4287-4-4-197 doi (DE-627)SPR029720192 (SPR)1897-4287-4-4-197-e DE-627 ger DE-627 rakwb eng Kurzawski, Grzegorz verfasserin aut Some aspects of molecular diagnostics in Lynch syndrome 2006 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier © The Author(s) 2006 Abstract This manuscript is composed of five parts which summarize five publications in succession. Essentially, they are concerned with molecular diagnostics of Lynch syndrome and are based on studies in 238 families. The finding that young age at diagnosis is the key feature in patients with MSH2 and MLH1 mutations (Part 1) has helped to define simple criteria for the preliminary diagnosis of this syndrome. A cheaper method for the detection of mutations has been developed (Part 2) and applied to study the types of mutations and their prevalence in Poland (Part 3) and the Baltic States (Part 4). A specific feature of these mutations, i.e. presence of recurrent mutations in the majority of affected families with mutations, has suggested the feasibility of effective diagnostics with a single test disclosing all of them. An attempt to reveal other causes of familial aggregation of colorectal cancer has ruled out any association with C insertion in the NOD2 gene (Part 5). diagnostic criteria (dpeaa)DE-He213 molecular diagnostics (dpeaa)DE-He213 germline (dpeaa)DE-He213 and (dpeaa)DE-He213 mutations (dpeaa)DE-He213 Enthalten in Hereditary cancer in clinical practice Berlin : Springer, 2003 4(2006), 4 vom: 15. Dez. (DE-627)511229925 (DE-600)2233352-6 1897-4287 nnns volume:4 year:2006 number:4 day:15 month:12 https://dx.doi.org/10.1186/1897-4287-4-4-197 kostenfrei Volltext GBV_USEFLAG_A SYSFLAG_A GBV_SPRINGER SSG-OLC-PHA GBV_ILN_11 GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_73 GBV_ILN_74 GBV_ILN_95 GBV_ILN_105 GBV_ILN_110 GBV_ILN_151 GBV_ILN_161 GBV_ILN_170 GBV_ILN_206 GBV_ILN_213 GBV_ILN_230 GBV_ILN_285 GBV_ILN_293 GBV_ILN_602 GBV_ILN_2003 GBV_ILN_2007 GBV_ILN_2014 GBV_ILN_4012 GBV_ILN_4037 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4249 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4338 GBV_ILN_4367 GBV_ILN_4700 AR 4 2006 4 15 12
allfieldsSound	10.1186/1897-4287-4-4-197 doi (DE-627)SPR029720192 (SPR)1897-4287-4-4-197-e DE-627 ger DE-627 rakwb eng Kurzawski, Grzegorz verfasserin aut Some aspects of molecular diagnostics in Lynch syndrome 2006 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier © The Author(s) 2006 Abstract This manuscript is composed of five parts which summarize five publications in succession. Essentially, they are concerned with molecular diagnostics of Lynch syndrome and are based on studies in 238 families. The finding that young age at diagnosis is the key feature in patients with MSH2 and MLH1 mutations (Part 1) has helped to define simple criteria for the preliminary diagnosis of this syndrome. A cheaper method for the detection of mutations has been developed (Part 2) and applied to study the types of mutations and their prevalence in Poland (Part 3) and the Baltic States (Part 4). A specific feature of these mutations, i.e. presence of recurrent mutations in the majority of affected families with mutations, has suggested the feasibility of effective diagnostics with a single test disclosing all of them. An attempt to reveal other causes of familial aggregation of colorectal cancer has ruled out any association with C insertion in the NOD2 gene (Part 5). diagnostic criteria (dpeaa)DE-He213 molecular diagnostics (dpeaa)DE-He213 germline (dpeaa)DE-He213 and (dpeaa)DE-He213 mutations (dpeaa)DE-He213 Enthalten in Hereditary cancer in clinical practice Berlin : Springer, 2003 4(2006), 4 vom: 15. Dez. (DE-627)511229925 (DE-600)2233352-6 1897-4287 nnns volume:4 year:2006 number:4 day:15 month:12 https://dx.doi.org/10.1186/1897-4287-4-4-197 kostenfrei Volltext GBV_USEFLAG_A SYSFLAG_A GBV_SPRINGER SSG-OLC-PHA GBV_ILN_11 GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_73 GBV_ILN_74 GBV_ILN_95 GBV_ILN_105 GBV_ILN_110 GBV_ILN_151 GBV_ILN_161 GBV_ILN_170 GBV_ILN_206 GBV_ILN_213 GBV_ILN_230 GBV_ILN_285 GBV_ILN_293 GBV_ILN_602 GBV_ILN_2003 GBV_ILN_2007 GBV_ILN_2014 GBV_ILN_4012 GBV_ILN_4037 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4249 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4338 GBV_ILN_4367 GBV_ILN_4700 AR 4 2006 4 15 12
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author	Kurzawski, Grzegorz
spellingShingle	Kurzawski, Grzegorz misc diagnostic criteria misc molecular diagnostics misc germline misc and misc mutations Some aspects of molecular diagnostics in Lynch syndrome
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topic_title	Some aspects of molecular diagnostics in Lynch syndrome diagnostic criteria (dpeaa)DE-He213 molecular diagnostics (dpeaa)DE-He213 germline (dpeaa)DE-He213 and (dpeaa)DE-He213 mutations (dpeaa)DE-He213
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title	Some aspects of molecular diagnostics in Lynch syndrome
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title_full	Some aspects of molecular diagnostics in Lynch syndrome
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title_sort	some aspects of molecular diagnostics in lynch syndrome
title_auth	Some aspects of molecular diagnostics in Lynch syndrome
abstract	Abstract This manuscript is composed of five parts which summarize five publications in succession. Essentially, they are concerned with molecular diagnostics of Lynch syndrome and are based on studies in 238 families. The finding that young age at diagnosis is the key feature in patients with MSH2 and MLH1 mutations (Part 1) has helped to define simple criteria for the preliminary diagnosis of this syndrome. A cheaper method for the detection of mutations has been developed (Part 2) and applied to study the types of mutations and their prevalence in Poland (Part 3) and the Baltic States (Part 4). A specific feature of these mutations, i.e. presence of recurrent mutations in the majority of affected families with mutations, has suggested the feasibility of effective diagnostics with a single test disclosing all of them. An attempt to reveal other causes of familial aggregation of colorectal cancer has ruled out any association with C insertion in the NOD2 gene (Part 5). © The Author(s) 2006
abstractGer	Abstract This manuscript is composed of five parts which summarize five publications in succession. Essentially, they are concerned with molecular diagnostics of Lynch syndrome and are based on studies in 238 families. The finding that young age at diagnosis is the key feature in patients with MSH2 and MLH1 mutations (Part 1) has helped to define simple criteria for the preliminary diagnosis of this syndrome. A cheaper method for the detection of mutations has been developed (Part 2) and applied to study the types of mutations and their prevalence in Poland (Part 3) and the Baltic States (Part 4). A specific feature of these mutations, i.e. presence of recurrent mutations in the majority of affected families with mutations, has suggested the feasibility of effective diagnostics with a single test disclosing all of them. An attempt to reveal other causes of familial aggregation of colorectal cancer has ruled out any association with C insertion in the NOD2 gene (Part 5). © The Author(s) 2006
abstract_unstemmed	Abstract This manuscript is composed of five parts which summarize five publications in succession. Essentially, they are concerned with molecular diagnostics of Lynch syndrome and are based on studies in 238 families. The finding that young age at diagnosis is the key feature in patients with MSH2 and MLH1 mutations (Part 1) has helped to define simple criteria for the preliminary diagnosis of this syndrome. A cheaper method for the detection of mutations has been developed (Part 2) and applied to study the types of mutations and their prevalence in Poland (Part 3) and the Baltic States (Part 4). A specific feature of these mutations, i.e. presence of recurrent mutations in the majority of affected families with mutations, has suggested the feasibility of effective diagnostics with a single test disclosing all of them. An attempt to reveal other causes of familial aggregation of colorectal cancer has ruled out any association with C insertion in the NOD2 gene (Part 5). © The Author(s) 2006
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title_short	Some aspects of molecular diagnostics in Lynch syndrome
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