Haplotypes of the I157T CHEK2 germline mutation in ethnically diverse populations

Abstract The CHEK2*I157T missense mutation, reported in ethnically diverse, high-risk families, moderately increases breast and colon cancer risk. The present study assessed whether this mutation represents a founder mutation. Participants identified in high risk clinics or from consecutive cancer p...
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Autor*in:	Kaufman, Bella [verfasserIn] Laitman, Yael [verfasserIn] Gronwald, Jacek [verfasserIn] Winqvist, Robert [verfasserIn] Irmejs, Arvids [verfasserIn] Lubinski, Jan [verfasserIn] Pylkäs, Katri [verfasserIn] Gardovskis, Janis [verfasserIn] Miklasevics, Edvins [verfasserIn] Friedman, Eitan [verfasserIn]

Format:	E-Artikel
Sprache:	Englisch

Erschienen:	2009

Schlagwörter:	gene Founder mutation Germline mutations Haplotype High risk cancer families

Übergeordnetes Werk:	Enthalten in: Familial cancer - Dordrecht [u.a.] : Springer Science + Business Media B.V, 2000, 8(2009), 4 vom: 17. Juli
Übergeordnetes Werk:	volume:8 ; year:2009 ; number:4 ; day:17 ; month:07

Links:	Volltext

DOI / URN:	10.1007/s10689-009-9269-1

Katalog-ID:	SPR012471763

Internformat


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245	1	0	\|a Haplotypes of the I157T CHEK2 germline mutation in ethnically diverse populations
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520			\|a Abstract The CHEK2I157T missense mutation, reported in ethnically diverse, high-risk families, moderately increases breast and colon cancer risk. The present study assessed whether this mutation represents a founder mutation. Participants identified in high risk clinics or from consecutive cancer patients in Israel, Poland, Latvia, and Finland, were either carriers of the CHEK2I157T mutation or non-carrier family members. Multi-locus genotyping employed two intragenic markers and five CHEK2 gene flanking markers, spanning about 645 kb. Haplotyping was done when families were available for phasing. Overall, 101 individuals (83 I157TCHEK2 mutation carriers) were genotyped: 16 Finnish individuals from 11 families (14 mutation carriers, two non-carrier family members), 50 Polish individuals (20 families) (35 carriers, 15 non-carriers), 28 unrelated Latvian mutation carriers, and seven Israeli participants (two families) (six mutation carriers, one non-carrier). Overall 36/83 mutation carriers (43%) were diagnosed with breast cancer, 15/83 (18%)—colon cancer, three—ovarian cancer, one—thyroid cancer, and the rest (n = 28) were asymptomatic. A common core haplotype was detected in all I157TCHEK2 mutation carriers of Israeli, Polish, and Finnish origin between markers D22S275-D22S689 (~258 kb), with a different allele pattern in Latvians. In conclusion, CHEK2*I157T missense mutation is a founder mutation in ethnically diverse populations, but may also be a mutational hotspot.
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650		4	\|a Haplotype \|7 (dpeaa)DE-He213
650		4	\|a High risk cancer families \|7 (dpeaa)DE-He213
700	1		\|a Laitman, Yael \|e verfasserin \|4 aut
700	1		\|a Gronwald, Jacek \|e verfasserin \|4 aut
700	1		\|a Winqvist, Robert \|e verfasserin \|4 aut
700	1		\|a Irmejs, Arvids \|e verfasserin \|4 aut
700	1		\|a Lubinski, Jan \|e verfasserin \|4 aut
700	1		\|a Pylkäs, Katri \|e verfasserin \|4 aut
700	1		\|a Gardovskis, Janis \|e verfasserin \|4 aut
700	1		\|a Miklasevics, Edvins \|e verfasserin \|4 aut
700	1		\|a Friedman, Eitan \|e verfasserin \|4 aut
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856	4	0	\|u https://dx.doi.org/10.1007/s10689-009-9269-1 \|z lizenzpflichtig \|3 Volltext
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912			\|a GBV_ILN_24
912			\|a GBV_ILN_31
912			\|a GBV_ILN_32
912			\|a GBV_ILN_39
912			\|a GBV_ILN_40
912			\|a GBV_ILN_60
912			\|a GBV_ILN_62
912			\|a GBV_ILN_63
912			\|a GBV_ILN_69
912			\|a GBV_ILN_70
912			\|a GBV_ILN_73
912			\|a GBV_ILN_74
912			\|a GBV_ILN_90
912			\|a GBV_ILN_95
912			\|a GBV_ILN_100
912			\|a GBV_ILN_101
912			\|a GBV_ILN_105
912			\|a GBV_ILN_110
912			\|a GBV_ILN_120
912			\|a GBV_ILN_138
912			\|a GBV_ILN_150
912			\|a GBV_ILN_151
912			\|a GBV_ILN_161
912			\|a GBV_ILN_170
912			\|a GBV_ILN_171
912			\|a GBV_ILN_187
912			\|a GBV_ILN_213
912			\|a GBV_ILN_224
912			\|a GBV_ILN_230
912			\|a GBV_ILN_250
912			\|a GBV_ILN_281
912			\|a GBV_ILN_285
912			\|a GBV_ILN_293
912			\|a GBV_ILN_370
912			\|a GBV_ILN_602
912			\|a GBV_ILN_636
912			\|a GBV_ILN_702
912			\|a GBV_ILN_2001
912			\|a GBV_ILN_2003
912			\|a GBV_ILN_2004
912			\|a GBV_ILN_2005
912			\|a GBV_ILN_2006
912			\|a GBV_ILN_2007
912			\|a GBV_ILN_2008
912			\|a GBV_ILN_2009
912			\|a GBV_ILN_2010
912			\|a GBV_ILN_2011
912			\|a GBV_ILN_2014
912			\|a GBV_ILN_2015
912			\|a GBV_ILN_2020
912			\|a GBV_ILN_2021
912			\|a GBV_ILN_2025
912			\|a GBV_ILN_2026
912			\|a GBV_ILN_2027
912			\|a GBV_ILN_2031
912			\|a GBV_ILN_2034
912			\|a GBV_ILN_2037
912			\|a GBV_ILN_2038
912			\|a GBV_ILN_2039
912			\|a GBV_ILN_2044
912			\|a GBV_ILN_2048
912			\|a GBV_ILN_2049
912			\|a GBV_ILN_2050
912			\|a GBV_ILN_2055
912			\|a GBV_ILN_2057
912			\|a GBV_ILN_2059
912			\|a GBV_ILN_2061
912			\|a GBV_ILN_2064
912			\|a GBV_ILN_2065
912			\|a GBV_ILN_2068
912			\|a GBV_ILN_2070
912			\|a GBV_ILN_2086
912			\|a GBV_ILN_2088
912			\|a GBV_ILN_2093
912			\|a GBV_ILN_2106
912			\|a GBV_ILN_2107
912			\|a GBV_ILN_2108
912			\|a GBV_ILN_2110
912			\|a GBV_ILN_2111
912			\|a GBV_ILN_2112
912			\|a GBV_ILN_2113
912			\|a GBV_ILN_2116
912			\|a GBV_ILN_2118
912			\|a GBV_ILN_2119
912			\|a GBV_ILN_2122
912			\|a GBV_ILN_2129
912			\|a GBV_ILN_2143
912			\|a GBV_ILN_2144
912			\|a GBV_ILN_2147
912			\|a GBV_ILN_2148
912			\|a GBV_ILN_2152
912			\|a GBV_ILN_2153
912			\|a GBV_ILN_2188
912			\|a GBV_ILN_2190
912			\|a GBV_ILN_2232
912			\|a GBV_ILN_2336
912			\|a GBV_ILN_2446
912			\|a GBV_ILN_2470
912			\|a GBV_ILN_2472
912			\|a GBV_ILN_2507
912			\|a GBV_ILN_2522
912			\|a GBV_ILN_2548
912			\|a GBV_ILN_4012
912			\|a GBV_ILN_4035
912			\|a GBV_ILN_4037
912			\|a GBV_ILN_4046
912			\|a GBV_ILN_4112
912			\|a GBV_ILN_4125
912			\|a GBV_ILN_4126
912			\|a GBV_ILN_4242
912			\|a GBV_ILN_4246
912			\|a GBV_ILN_4249
912			\|a GBV_ILN_4251
912			\|a GBV_ILN_4305
912			\|a GBV_ILN_4306
912			\|a GBV_ILN_4307
912			\|a GBV_ILN_4313
912			\|a GBV_ILN_4322
912			\|a GBV_ILN_4323
912			\|a GBV_ILN_4324
912			\|a GBV_ILN_4325
912			\|a GBV_ILN_4326
912			\|a GBV_ILN_4333
912			\|a GBV_ILN_4334
912			\|a GBV_ILN_4335
912			\|a GBV_ILN_4336
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952			\|d 8 \|j 2009 \|e 4 \|b 17 \|c 07

Indexfelder

author_variant	b k bk y l yl j g jg r w rw a i ai j l jl k p kp j g jg e m em e f ef
matchkey_str	article:15737292:2009----::altpsfhi5thkgrlnmttoiehia
hierarchy_sort_str	2009
bklnumber	44.81
publishDate	2009
allfields	10.1007/s10689-009-9269-1 doi (DE-627)SPR012471763 (SPR)s10689-009-9269-1-e DE-627 ger DE-627 rakwb eng 610 ASE 44.81 bkl Kaufman, Bella verfasserin aut Haplotypes of the I157T CHEK2 germline mutation in ethnically diverse populations 2009 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier Abstract The CHEK2I157T missense mutation, reported in ethnically diverse, high-risk families, moderately increases breast and colon cancer risk. The present study assessed whether this mutation represents a founder mutation. Participants identified in high risk clinics or from consecutive cancer patients in Israel, Poland, Latvia, and Finland, were either carriers of the CHEK2I157T mutation or non-carrier family members. Multi-locus genotyping employed two intragenic markers and five CHEK2 gene flanking markers, spanning about 645 kb. Haplotyping was done when families were available for phasing. Overall, 101 individuals (83 I157TCHEK2 mutation carriers) were genotyped: 16 Finnish individuals from 11 families (14 mutation carriers, two non-carrier family members), 50 Polish individuals (20 families) (35 carriers, 15 non-carriers), 28 unrelated Latvian mutation carriers, and seven Israeli participants (two families) (six mutation carriers, one non-carrier). Overall 36/83 mutation carriers (43%) were diagnosed with breast cancer, 15/83 (18%)—colon cancer, three—ovarian cancer, one—thyroid cancer, and the rest (n = 28) were asymptomatic. A common core haplotype was detected in all I157TCHEK2 mutation carriers of Israeli, Polish, and Finnish origin between markers D22S275-D22S689 (~258 kb), with a different allele pattern in Latvians. In conclusion, CHEK2*I157T missense mutation is a founder mutation in ethnically diverse populations, but may also be a mutational hotspot. gene (dpeaa)DE-He213 Founder mutation (dpeaa)DE-He213 Germline mutations (dpeaa)DE-He213 Haplotype (dpeaa)DE-He213 High risk cancer families (dpeaa)DE-He213 Laitman, Yael verfasserin aut Gronwald, Jacek verfasserin aut Winqvist, Robert verfasserin aut Irmejs, Arvids verfasserin aut Lubinski, Jan verfasserin aut Pylkäs, Katri verfasserin aut Gardovskis, Janis verfasserin aut Miklasevics, Edvins verfasserin aut Friedman, Eitan verfasserin aut Enthalten in Familial cancer Dordrecht [u.a.] : Springer Science + Business Media B.V, 2000 8(2009), 4 vom: 17. Juli (DE-627)320528324 (DE-600)2015448-3 1573-7292 nnns volume:8 year:2009 number:4 day:17 month:07 https://dx.doi.org/10.1007/s10689-009-9269-1 lizenzpflichtig 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_31 GBV_ILN_32 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_69 GBV_ILN_70 GBV_ILN_73 GBV_ILN_74 GBV_ILN_90 GBV_ILN_95 GBV_ILN_100 GBV_ILN_101 GBV_ILN_105 GBV_ILN_110 GBV_ILN_120 GBV_ILN_138 GBV_ILN_150 GBV_ILN_151 GBV_ILN_161 GBV_ILN_170 GBV_ILN_171 GBV_ILN_187 GBV_ILN_213 GBV_ILN_224 GBV_ILN_230 GBV_ILN_250 GBV_ILN_281 GBV_ILN_285 GBV_ILN_293 GBV_ILN_370 GBV_ILN_602 GBV_ILN_636 GBV_ILN_702 GBV_ILN_2001 GBV_ILN_2003 GBV_ILN_2004 GBV_ILN_2005 GBV_ILN_2006 GBV_ILN_2007 GBV_ILN_2008 GBV_ILN_2009 GBV_ILN_2010 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2015 GBV_ILN_2020 GBV_ILN_2021 GBV_ILN_2025 GBV_ILN_2026 GBV_ILN_2027 GBV_ILN_2031 GBV_ILN_2034 GBV_ILN_2037 GBV_ILN_2038 GBV_ILN_2039 GBV_ILN_2044 GBV_ILN_2048 GBV_ILN_2049 GBV_ILN_2050 GBV_ILN_2055 GBV_ILN_2057 GBV_ILN_2059 GBV_ILN_2061 GBV_ILN_2064 GBV_ILN_2065 GBV_ILN_2068 GBV_ILN_2070 GBV_ILN_2086 GBV_ILN_2088 GBV_ILN_2093 GBV_ILN_2106 GBV_ILN_2107 GBV_ILN_2108 GBV_ILN_2110 GBV_ILN_2111 GBV_ILN_2112 GBV_ILN_2113 GBV_ILN_2116 GBV_ILN_2118 GBV_ILN_2119 GBV_ILN_2122 GBV_ILN_2129 GBV_ILN_2143 GBV_ILN_2144 GBV_ILN_2147 GBV_ILN_2148 GBV_ILN_2152 GBV_ILN_2153 GBV_ILN_2188 GBV_ILN_2190 GBV_ILN_2232 GBV_ILN_2336 GBV_ILN_2446 GBV_ILN_2470 GBV_ILN_2472 GBV_ILN_2507 GBV_ILN_2522 GBV_ILN_2548 GBV_ILN_4012 GBV_ILN_4035 GBV_ILN_4037 GBV_ILN_4046 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4242 GBV_ILN_4246 GBV_ILN_4249 GBV_ILN_4251 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_4326 GBV_ILN_4333 GBV_ILN_4334 GBV_ILN_4335 GBV_ILN_4336 GBV_ILN_4338 GBV_ILN_4393 GBV_ILN_4700 44.81 ASE AR 8 2009 4 17 07
spelling	10.1007/s10689-009-9269-1 doi (DE-627)SPR012471763 (SPR)s10689-009-9269-1-e DE-627 ger DE-627 rakwb eng 610 ASE 44.81 bkl Kaufman, Bella verfasserin aut Haplotypes of the I157T CHEK2 germline mutation in ethnically diverse populations 2009 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier Abstract The CHEK2I157T missense mutation, reported in ethnically diverse, high-risk families, moderately increases breast and colon cancer risk. The present study assessed whether this mutation represents a founder mutation. Participants identified in high risk clinics or from consecutive cancer patients in Israel, Poland, Latvia, and Finland, were either carriers of the CHEK2I157T mutation or non-carrier family members. Multi-locus genotyping employed two intragenic markers and five CHEK2 gene flanking markers, spanning about 645 kb. Haplotyping was done when families were available for phasing. Overall, 101 individuals (83 I157TCHEK2 mutation carriers) were genotyped: 16 Finnish individuals from 11 families (14 mutation carriers, two non-carrier family members), 50 Polish individuals (20 families) (35 carriers, 15 non-carriers), 28 unrelated Latvian mutation carriers, and seven Israeli participants (two families) (six mutation carriers, one non-carrier). Overall 36/83 mutation carriers (43%) were diagnosed with breast cancer, 15/83 (18%)—colon cancer, three—ovarian cancer, one—thyroid cancer, and the rest (n = 28) were asymptomatic. A common core haplotype was detected in all I157TCHEK2 mutation carriers of Israeli, Polish, and Finnish origin between markers D22S275-D22S689 (~258 kb), with a different allele pattern in Latvians. In conclusion, CHEK2*I157T missense mutation is a founder mutation in ethnically diverse populations, but may also be a mutational hotspot. gene (dpeaa)DE-He213 Founder mutation (dpeaa)DE-He213 Germline mutations (dpeaa)DE-He213 Haplotype (dpeaa)DE-He213 High risk cancer families (dpeaa)DE-He213 Laitman, Yael verfasserin aut Gronwald, Jacek verfasserin aut Winqvist, Robert verfasserin aut Irmejs, Arvids verfasserin aut Lubinski, Jan verfasserin aut Pylkäs, Katri verfasserin aut Gardovskis, Janis verfasserin aut Miklasevics, Edvins verfasserin aut Friedman, Eitan verfasserin aut Enthalten in Familial cancer Dordrecht [u.a.] : Springer Science + Business Media B.V, 2000 8(2009), 4 vom: 17. Juli (DE-627)320528324 (DE-600)2015448-3 1573-7292 nnns volume:8 year:2009 number:4 day:17 month:07 https://dx.doi.org/10.1007/s10689-009-9269-1 lizenzpflichtig 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_31 GBV_ILN_32 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_69 GBV_ILN_70 GBV_ILN_73 GBV_ILN_74 GBV_ILN_90 GBV_ILN_95 GBV_ILN_100 GBV_ILN_101 GBV_ILN_105 GBV_ILN_110 GBV_ILN_120 GBV_ILN_138 GBV_ILN_150 GBV_ILN_151 GBV_ILN_161 GBV_ILN_170 GBV_ILN_171 GBV_ILN_187 GBV_ILN_213 GBV_ILN_224 GBV_ILN_230 GBV_ILN_250 GBV_ILN_281 GBV_ILN_285 GBV_ILN_293 GBV_ILN_370 GBV_ILN_602 GBV_ILN_636 GBV_ILN_702 GBV_ILN_2001 GBV_ILN_2003 GBV_ILN_2004 GBV_ILN_2005 GBV_ILN_2006 GBV_ILN_2007 GBV_ILN_2008 GBV_ILN_2009 GBV_ILN_2010 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2015 GBV_ILN_2020 GBV_ILN_2021 GBV_ILN_2025 GBV_ILN_2026 GBV_ILN_2027 GBV_ILN_2031 GBV_ILN_2034 GBV_ILN_2037 GBV_ILN_2038 GBV_ILN_2039 GBV_ILN_2044 GBV_ILN_2048 GBV_ILN_2049 GBV_ILN_2050 GBV_ILN_2055 GBV_ILN_2057 GBV_ILN_2059 GBV_ILN_2061 GBV_ILN_2064 GBV_ILN_2065 GBV_ILN_2068 GBV_ILN_2070 GBV_ILN_2086 GBV_ILN_2088 GBV_ILN_2093 GBV_ILN_2106 GBV_ILN_2107 GBV_ILN_2108 GBV_ILN_2110 GBV_ILN_2111 GBV_ILN_2112 GBV_ILN_2113 GBV_ILN_2116 GBV_ILN_2118 GBV_ILN_2119 GBV_ILN_2122 GBV_ILN_2129 GBV_ILN_2143 GBV_ILN_2144 GBV_ILN_2147 GBV_ILN_2148 GBV_ILN_2152 GBV_ILN_2153 GBV_ILN_2188 GBV_ILN_2190 GBV_ILN_2232 GBV_ILN_2336 GBV_ILN_2446 GBV_ILN_2470 GBV_ILN_2472 GBV_ILN_2507 GBV_ILN_2522 GBV_ILN_2548 GBV_ILN_4012 GBV_ILN_4035 GBV_ILN_4037 GBV_ILN_4046 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4242 GBV_ILN_4246 GBV_ILN_4249 GBV_ILN_4251 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_4326 GBV_ILN_4333 GBV_ILN_4334 GBV_ILN_4335 GBV_ILN_4336 GBV_ILN_4338 GBV_ILN_4393 GBV_ILN_4700 44.81 ASE AR 8 2009 4 17 07
allfields_unstemmed	10.1007/s10689-009-9269-1 doi (DE-627)SPR012471763 (SPR)s10689-009-9269-1-e DE-627 ger DE-627 rakwb eng 610 ASE 44.81 bkl Kaufman, Bella verfasserin aut Haplotypes of the I157T CHEK2 germline mutation in ethnically diverse populations 2009 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier Abstract The CHEK2I157T missense mutation, reported in ethnically diverse, high-risk families, moderately increases breast and colon cancer risk. The present study assessed whether this mutation represents a founder mutation. Participants identified in high risk clinics or from consecutive cancer patients in Israel, Poland, Latvia, and Finland, were either carriers of the CHEK2I157T mutation or non-carrier family members. Multi-locus genotyping employed two intragenic markers and five CHEK2 gene flanking markers, spanning about 645 kb. Haplotyping was done when families were available for phasing. Overall, 101 individuals (83 I157TCHEK2 mutation carriers) were genotyped: 16 Finnish individuals from 11 families (14 mutation carriers, two non-carrier family members), 50 Polish individuals (20 families) (35 carriers, 15 non-carriers), 28 unrelated Latvian mutation carriers, and seven Israeli participants (two families) (six mutation carriers, one non-carrier). Overall 36/83 mutation carriers (43%) were diagnosed with breast cancer, 15/83 (18%)—colon cancer, three—ovarian cancer, one—thyroid cancer, and the rest (n = 28) were asymptomatic. A common core haplotype was detected in all I157TCHEK2 mutation carriers of Israeli, Polish, and Finnish origin between markers D22S275-D22S689 (~258 kb), with a different allele pattern in Latvians. In conclusion, CHEK2*I157T missense mutation is a founder mutation in ethnically diverse populations, but may also be a mutational hotspot. gene (dpeaa)DE-He213 Founder mutation (dpeaa)DE-He213 Germline mutations (dpeaa)DE-He213 Haplotype (dpeaa)DE-He213 High risk cancer families (dpeaa)DE-He213 Laitman, Yael verfasserin aut Gronwald, Jacek verfasserin aut Winqvist, Robert verfasserin aut Irmejs, Arvids verfasserin aut Lubinski, Jan verfasserin aut Pylkäs, Katri verfasserin aut Gardovskis, Janis verfasserin aut Miklasevics, Edvins verfasserin aut Friedman, Eitan verfasserin aut Enthalten in Familial cancer Dordrecht [u.a.] : Springer Science + Business Media B.V, 2000 8(2009), 4 vom: 17. Juli (DE-627)320528324 (DE-600)2015448-3 1573-7292 nnns volume:8 year:2009 number:4 day:17 month:07 https://dx.doi.org/10.1007/s10689-009-9269-1 lizenzpflichtig 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_31 GBV_ILN_32 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_69 GBV_ILN_70 GBV_ILN_73 GBV_ILN_74 GBV_ILN_90 GBV_ILN_95 GBV_ILN_100 GBV_ILN_101 GBV_ILN_105 GBV_ILN_110 GBV_ILN_120 GBV_ILN_138 GBV_ILN_150 GBV_ILN_151 GBV_ILN_161 GBV_ILN_170 GBV_ILN_171 GBV_ILN_187 GBV_ILN_213 GBV_ILN_224 GBV_ILN_230 GBV_ILN_250 GBV_ILN_281 GBV_ILN_285 GBV_ILN_293 GBV_ILN_370 GBV_ILN_602 GBV_ILN_636 GBV_ILN_702 GBV_ILN_2001 GBV_ILN_2003 GBV_ILN_2004 GBV_ILN_2005 GBV_ILN_2006 GBV_ILN_2007 GBV_ILN_2008 GBV_ILN_2009 GBV_ILN_2010 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2015 GBV_ILN_2020 GBV_ILN_2021 GBV_ILN_2025 GBV_ILN_2026 GBV_ILN_2027 GBV_ILN_2031 GBV_ILN_2034 GBV_ILN_2037 GBV_ILN_2038 GBV_ILN_2039 GBV_ILN_2044 GBV_ILN_2048 GBV_ILN_2049 GBV_ILN_2050 GBV_ILN_2055 GBV_ILN_2057 GBV_ILN_2059 GBV_ILN_2061 GBV_ILN_2064 GBV_ILN_2065 GBV_ILN_2068 GBV_ILN_2070 GBV_ILN_2086 GBV_ILN_2088 GBV_ILN_2093 GBV_ILN_2106 GBV_ILN_2107 GBV_ILN_2108 GBV_ILN_2110 GBV_ILN_2111 GBV_ILN_2112 GBV_ILN_2113 GBV_ILN_2116 GBV_ILN_2118 GBV_ILN_2119 GBV_ILN_2122 GBV_ILN_2129 GBV_ILN_2143 GBV_ILN_2144 GBV_ILN_2147 GBV_ILN_2148 GBV_ILN_2152 GBV_ILN_2153 GBV_ILN_2188 GBV_ILN_2190 GBV_ILN_2232 GBV_ILN_2336 GBV_ILN_2446 GBV_ILN_2470 GBV_ILN_2472 GBV_ILN_2507 GBV_ILN_2522 GBV_ILN_2548 GBV_ILN_4012 GBV_ILN_4035 GBV_ILN_4037 GBV_ILN_4046 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4242 GBV_ILN_4246 GBV_ILN_4249 GBV_ILN_4251 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_4326 GBV_ILN_4333 GBV_ILN_4334 GBV_ILN_4335 GBV_ILN_4336 GBV_ILN_4338 GBV_ILN_4393 GBV_ILN_4700 44.81 ASE AR 8 2009 4 17 07
allfieldsGer	10.1007/s10689-009-9269-1 doi (DE-627)SPR012471763 (SPR)s10689-009-9269-1-e DE-627 ger DE-627 rakwb eng 610 ASE 44.81 bkl Kaufman, Bella verfasserin aut Haplotypes of the I157T CHEK2 germline mutation in ethnically diverse populations 2009 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier Abstract The CHEK2I157T missense mutation, reported in ethnically diverse, high-risk families, moderately increases breast and colon cancer risk. The present study assessed whether this mutation represents a founder mutation. Participants identified in high risk clinics or from consecutive cancer patients in Israel, Poland, Latvia, and Finland, were either carriers of the CHEK2I157T mutation or non-carrier family members. Multi-locus genotyping employed two intragenic markers and five CHEK2 gene flanking markers, spanning about 645 kb. Haplotyping was done when families were available for phasing. Overall, 101 individuals (83 I157TCHEK2 mutation carriers) were genotyped: 16 Finnish individuals from 11 families (14 mutation carriers, two non-carrier family members), 50 Polish individuals (20 families) (35 carriers, 15 non-carriers), 28 unrelated Latvian mutation carriers, and seven Israeli participants (two families) (six mutation carriers, one non-carrier). Overall 36/83 mutation carriers (43%) were diagnosed with breast cancer, 15/83 (18%)—colon cancer, three—ovarian cancer, one—thyroid cancer, and the rest (n = 28) were asymptomatic. A common core haplotype was detected in all I157TCHEK2 mutation carriers of Israeli, Polish, and Finnish origin between markers D22S275-D22S689 (~258 kb), with a different allele pattern in Latvians. In conclusion, CHEK2*I157T missense mutation is a founder mutation in ethnically diverse populations, but may also be a mutational hotspot. gene (dpeaa)DE-He213 Founder mutation (dpeaa)DE-He213 Germline mutations (dpeaa)DE-He213 Haplotype (dpeaa)DE-He213 High risk cancer families (dpeaa)DE-He213 Laitman, Yael verfasserin aut Gronwald, Jacek verfasserin aut Winqvist, Robert verfasserin aut Irmejs, Arvids verfasserin aut Lubinski, Jan verfasserin aut Pylkäs, Katri verfasserin aut Gardovskis, Janis verfasserin aut Miklasevics, Edvins verfasserin aut Friedman, Eitan verfasserin aut Enthalten in Familial cancer Dordrecht [u.a.] : Springer Science + Business Media B.V, 2000 8(2009), 4 vom: 17. Juli (DE-627)320528324 (DE-600)2015448-3 1573-7292 nnns volume:8 year:2009 number:4 day:17 month:07 https://dx.doi.org/10.1007/s10689-009-9269-1 lizenzpflichtig 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_31 GBV_ILN_32 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_69 GBV_ILN_70 GBV_ILN_73 GBV_ILN_74 GBV_ILN_90 GBV_ILN_95 GBV_ILN_100 GBV_ILN_101 GBV_ILN_105 GBV_ILN_110 GBV_ILN_120 GBV_ILN_138 GBV_ILN_150 GBV_ILN_151 GBV_ILN_161 GBV_ILN_170 GBV_ILN_171 GBV_ILN_187 GBV_ILN_213 GBV_ILN_224 GBV_ILN_230 GBV_ILN_250 GBV_ILN_281 GBV_ILN_285 GBV_ILN_293 GBV_ILN_370 GBV_ILN_602 GBV_ILN_636 GBV_ILN_702 GBV_ILN_2001 GBV_ILN_2003 GBV_ILN_2004 GBV_ILN_2005 GBV_ILN_2006 GBV_ILN_2007 GBV_ILN_2008 GBV_ILN_2009 GBV_ILN_2010 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2015 GBV_ILN_2020 GBV_ILN_2021 GBV_ILN_2025 GBV_ILN_2026 GBV_ILN_2027 GBV_ILN_2031 GBV_ILN_2034 GBV_ILN_2037 GBV_ILN_2038 GBV_ILN_2039 GBV_ILN_2044 GBV_ILN_2048 GBV_ILN_2049 GBV_ILN_2050 GBV_ILN_2055 GBV_ILN_2057 GBV_ILN_2059 GBV_ILN_2061 GBV_ILN_2064 GBV_ILN_2065 GBV_ILN_2068 GBV_ILN_2070 GBV_ILN_2086 GBV_ILN_2088 GBV_ILN_2093 GBV_ILN_2106 GBV_ILN_2107 GBV_ILN_2108 GBV_ILN_2110 GBV_ILN_2111 GBV_ILN_2112 GBV_ILN_2113 GBV_ILN_2116 GBV_ILN_2118 GBV_ILN_2119 GBV_ILN_2122 GBV_ILN_2129 GBV_ILN_2143 GBV_ILN_2144 GBV_ILN_2147 GBV_ILN_2148 GBV_ILN_2152 GBV_ILN_2153 GBV_ILN_2188 GBV_ILN_2190 GBV_ILN_2232 GBV_ILN_2336 GBV_ILN_2446 GBV_ILN_2470 GBV_ILN_2472 GBV_ILN_2507 GBV_ILN_2522 GBV_ILN_2548 GBV_ILN_4012 GBV_ILN_4035 GBV_ILN_4037 GBV_ILN_4046 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4242 GBV_ILN_4246 GBV_ILN_4249 GBV_ILN_4251 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_4326 GBV_ILN_4333 GBV_ILN_4334 GBV_ILN_4335 GBV_ILN_4336 GBV_ILN_4338 GBV_ILN_4393 GBV_ILN_4700 44.81 ASE AR 8 2009 4 17 07
allfieldsSound	10.1007/s10689-009-9269-1 doi (DE-627)SPR012471763 (SPR)s10689-009-9269-1-e DE-627 ger DE-627 rakwb eng 610 ASE 44.81 bkl Kaufman, Bella verfasserin aut Haplotypes of the I157T CHEK2 germline mutation in ethnically diverse populations 2009 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier Abstract The CHEK2I157T missense mutation, reported in ethnically diverse, high-risk families, moderately increases breast and colon cancer risk. The present study assessed whether this mutation represents a founder mutation. Participants identified in high risk clinics or from consecutive cancer patients in Israel, Poland, Latvia, and Finland, were either carriers of the CHEK2I157T mutation or non-carrier family members. Multi-locus genotyping employed two intragenic markers and five CHEK2 gene flanking markers, spanning about 645 kb. Haplotyping was done when families were available for phasing. Overall, 101 individuals (83 I157TCHEK2 mutation carriers) were genotyped: 16 Finnish individuals from 11 families (14 mutation carriers, two non-carrier family members), 50 Polish individuals (20 families) (35 carriers, 15 non-carriers), 28 unrelated Latvian mutation carriers, and seven Israeli participants (two families) (six mutation carriers, one non-carrier). Overall 36/83 mutation carriers (43%) were diagnosed with breast cancer, 15/83 (18%)—colon cancer, three—ovarian cancer, one—thyroid cancer, and the rest (n = 28) were asymptomatic. A common core haplotype was detected in all I157TCHEK2 mutation carriers of Israeli, Polish, and Finnish origin between markers D22S275-D22S689 (~258 kb), with a different allele pattern in Latvians. In conclusion, CHEK2*I157T missense mutation is a founder mutation in ethnically diverse populations, but may also be a mutational hotspot. gene (dpeaa)DE-He213 Founder mutation (dpeaa)DE-He213 Germline mutations (dpeaa)DE-He213 Haplotype (dpeaa)DE-He213 High risk cancer families (dpeaa)DE-He213 Laitman, Yael verfasserin aut Gronwald, Jacek verfasserin aut Winqvist, Robert verfasserin aut Irmejs, Arvids verfasserin aut Lubinski, Jan verfasserin aut Pylkäs, Katri verfasserin aut Gardovskis, Janis verfasserin aut Miklasevics, Edvins verfasserin aut Friedman, Eitan verfasserin aut Enthalten in Familial cancer Dordrecht [u.a.] : Springer Science + Business Media B.V, 2000 8(2009), 4 vom: 17. Juli (DE-627)320528324 (DE-600)2015448-3 1573-7292 nnns volume:8 year:2009 number:4 day:17 month:07 https://dx.doi.org/10.1007/s10689-009-9269-1 lizenzpflichtig 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_31 GBV_ILN_32 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_69 GBV_ILN_70 GBV_ILN_73 GBV_ILN_74 GBV_ILN_90 GBV_ILN_95 GBV_ILN_100 GBV_ILN_101 GBV_ILN_105 GBV_ILN_110 GBV_ILN_120 GBV_ILN_138 GBV_ILN_150 GBV_ILN_151 GBV_ILN_161 GBV_ILN_170 GBV_ILN_171 GBV_ILN_187 GBV_ILN_213 GBV_ILN_224 GBV_ILN_230 GBV_ILN_250 GBV_ILN_281 GBV_ILN_285 GBV_ILN_293 GBV_ILN_370 GBV_ILN_602 GBV_ILN_636 GBV_ILN_702 GBV_ILN_2001 GBV_ILN_2003 GBV_ILN_2004 GBV_ILN_2005 GBV_ILN_2006 GBV_ILN_2007 GBV_ILN_2008 GBV_ILN_2009 GBV_ILN_2010 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2015 GBV_ILN_2020 GBV_ILN_2021 GBV_ILN_2025 GBV_ILN_2026 GBV_ILN_2027 GBV_ILN_2031 GBV_ILN_2034 GBV_ILN_2037 GBV_ILN_2038 GBV_ILN_2039 GBV_ILN_2044 GBV_ILN_2048 GBV_ILN_2049 GBV_ILN_2050 GBV_ILN_2055 GBV_ILN_2057 GBV_ILN_2059 GBV_ILN_2061 GBV_ILN_2064 GBV_ILN_2065 GBV_ILN_2068 GBV_ILN_2070 GBV_ILN_2086 GBV_ILN_2088 GBV_ILN_2093 GBV_ILN_2106 GBV_ILN_2107 GBV_ILN_2108 GBV_ILN_2110 GBV_ILN_2111 GBV_ILN_2112 GBV_ILN_2113 GBV_ILN_2116 GBV_ILN_2118 GBV_ILN_2119 GBV_ILN_2122 GBV_ILN_2129 GBV_ILN_2143 GBV_ILN_2144 GBV_ILN_2147 GBV_ILN_2148 GBV_ILN_2152 GBV_ILN_2153 GBV_ILN_2188 GBV_ILN_2190 GBV_ILN_2232 GBV_ILN_2336 GBV_ILN_2446 GBV_ILN_2470 GBV_ILN_2472 GBV_ILN_2507 GBV_ILN_2522 GBV_ILN_2548 GBV_ILN_4012 GBV_ILN_4035 GBV_ILN_4037 GBV_ILN_4046 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4242 GBV_ILN_4246 GBV_ILN_4249 GBV_ILN_4251 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_4326 GBV_ILN_4333 GBV_ILN_4334 GBV_ILN_4335 GBV_ILN_4336 GBV_ILN_4338 GBV_ILN_4393 GBV_ILN_4700 44.81 ASE AR 8 2009 4 17 07
language	English
source	Enthalten in Familial cancer 8(2009), 4 vom: 17. Juli volume:8 year:2009 number:4 day:17 month:07
sourceStr	Enthalten in Familial cancer 8(2009), 4 vom: 17. Juli volume:8 year:2009 number:4 day:17 month:07
format_phy_str_mv	Article
institution	findex.gbv.de
topic_facet	gene Founder mutation Germline mutations Haplotype High risk cancer families
dewey-raw	610
isfreeaccess_bool	false
container_title	Familial cancer
authorswithroles_txt_mv	Kaufman, Bella @@aut@@ Laitman, Yael @@aut@@ Gronwald, Jacek @@aut@@ Winqvist, Robert @@aut@@ Irmejs, Arvids @@aut@@ Lubinski, Jan @@aut@@ Pylkäs, Katri @@aut@@ Gardovskis, Janis @@aut@@ Miklasevics, Edvins @@aut@@ Friedman, Eitan @@aut@@
publishDateDaySort_date	2009-07-17T00:00:00Z
hierarchy_top_id	320528324
dewey-sort	3610
id	SPR012471763
language_de	englisch
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author	Kaufman, Bella
spellingShingle	Kaufman, Bella ddc 610 bkl 44.81 misc gene misc Founder mutation misc Germline mutations misc Haplotype misc High risk cancer families Haplotypes of the I157T CHEK2 germline mutation in ethnically diverse populations
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topic_title	610 ASE 44.81 bkl Haplotypes of the I157T CHEK2 germline mutation in ethnically diverse populations gene (dpeaa)DE-He213 Founder mutation (dpeaa)DE-He213 Germline mutations (dpeaa)DE-He213 Haplotype (dpeaa)DE-He213 High risk cancer families (dpeaa)DE-He213
topic	ddc 610 bkl 44.81 misc gene misc Founder mutation misc Germline mutations misc Haplotype misc High risk cancer families
topic_unstemmed	ddc 610 bkl 44.81 misc gene misc Founder mutation misc Germline mutations misc Haplotype misc High risk cancer families
topic_browse	ddc 610 bkl 44.81 misc gene misc Founder mutation misc Germline mutations misc Haplotype misc High risk cancer families
format_facet	Elektronische Aufsätze Aufsätze Elektronische Ressource
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title	Haplotypes of the I157T CHEK2 germline mutation in ethnically diverse populations
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title_full	Haplotypes of the I157T CHEK2 germline mutation in ethnically diverse populations
author_sort	Kaufman, Bella
journal	Familial cancer
journalStr	Familial cancer
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author_browse	Kaufman, Bella Laitman, Yael Gronwald, Jacek Winqvist, Robert Irmejs, Arvids Lubinski, Jan Pylkäs, Katri Gardovskis, Janis Miklasevics, Edvins Friedman, Eitan
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author-letter	Kaufman, Bella
doi_str_mv	10.1007/s10689-009-9269-1
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author2-role	verfasserin
title_sort	haplotypes of the i157t chek2 germline mutation in ethnically diverse populations
title_auth	Haplotypes of the I157T CHEK2 germline mutation in ethnically diverse populations
abstract	Abstract The CHEK2I157T missense mutation, reported in ethnically diverse, high-risk families, moderately increases breast and colon cancer risk. The present study assessed whether this mutation represents a founder mutation. Participants identified in high risk clinics or from consecutive cancer patients in Israel, Poland, Latvia, and Finland, were either carriers of the CHEK2I157T mutation or non-carrier family members. Multi-locus genotyping employed two intragenic markers and five CHEK2 gene flanking markers, spanning about 645 kb. Haplotyping was done when families were available for phasing. Overall, 101 individuals (83 I157TCHEK2 mutation carriers) were genotyped: 16 Finnish individuals from 11 families (14 mutation carriers, two non-carrier family members), 50 Polish individuals (20 families) (35 carriers, 15 non-carriers), 28 unrelated Latvian mutation carriers, and seven Israeli participants (two families) (six mutation carriers, one non-carrier). Overall 36/83 mutation carriers (43%) were diagnosed with breast cancer, 15/83 (18%)—colon cancer, three—ovarian cancer, one—thyroid cancer, and the rest (n = 28) were asymptomatic. A common core haplotype was detected in all I157TCHEK2 mutation carriers of Israeli, Polish, and Finnish origin between markers D22S275-D22S689 (~258 kb), with a different allele pattern in Latvians. In conclusion, CHEK2*I157T missense mutation is a founder mutation in ethnically diverse populations, but may also be a mutational hotspot.
abstractGer	Abstract The CHEK2I157T missense mutation, reported in ethnically diverse, high-risk families, moderately increases breast and colon cancer risk. The present study assessed whether this mutation represents a founder mutation. Participants identified in high risk clinics or from consecutive cancer patients in Israel, Poland, Latvia, and Finland, were either carriers of the CHEK2I157T mutation or non-carrier family members. Multi-locus genotyping employed two intragenic markers and five CHEK2 gene flanking markers, spanning about 645 kb. Haplotyping was done when families were available for phasing. Overall, 101 individuals (83 I157TCHEK2 mutation carriers) were genotyped: 16 Finnish individuals from 11 families (14 mutation carriers, two non-carrier family members), 50 Polish individuals (20 families) (35 carriers, 15 non-carriers), 28 unrelated Latvian mutation carriers, and seven Israeli participants (two families) (six mutation carriers, one non-carrier). Overall 36/83 mutation carriers (43%) were diagnosed with breast cancer, 15/83 (18%)—colon cancer, three—ovarian cancer, one—thyroid cancer, and the rest (n = 28) were asymptomatic. A common core haplotype was detected in all I157TCHEK2 mutation carriers of Israeli, Polish, and Finnish origin between markers D22S275-D22S689 (~258 kb), with a different allele pattern in Latvians. In conclusion, CHEK2*I157T missense mutation is a founder mutation in ethnically diverse populations, but may also be a mutational hotspot.
abstract_unstemmed	Abstract The CHEK2I157T missense mutation, reported in ethnically diverse, high-risk families, moderately increases breast and colon cancer risk. The present study assessed whether this mutation represents a founder mutation. Participants identified in high risk clinics or from consecutive cancer patients in Israel, Poland, Latvia, and Finland, were either carriers of the CHEK2I157T mutation or non-carrier family members. Multi-locus genotyping employed two intragenic markers and five CHEK2 gene flanking markers, spanning about 645 kb. Haplotyping was done when families were available for phasing. Overall, 101 individuals (83 I157TCHEK2 mutation carriers) were genotyped: 16 Finnish individuals from 11 families (14 mutation carriers, two non-carrier family members), 50 Polish individuals (20 families) (35 carriers, 15 non-carriers), 28 unrelated Latvian mutation carriers, and seven Israeli participants (two families) (six mutation carriers, one non-carrier). Overall 36/83 mutation carriers (43%) were diagnosed with breast cancer, 15/83 (18%)—colon cancer, three—ovarian cancer, one—thyroid cancer, and the rest (n = 28) were asymptomatic. A common core haplotype was detected in all I157TCHEK2 mutation carriers of Israeli, Polish, and Finnish origin between markers D22S275-D22S689 (~258 kb), with a different allele pattern in Latvians. In conclusion, CHEK2*I157T missense mutation is a founder mutation in ethnically diverse populations, but may also be a mutational hotspot.
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container_issue	4
title_short	Haplotypes of the I157T CHEK2 germline mutation in ethnically diverse populations
url	https://dx.doi.org/10.1007/s10689-009-9269-1
remote_bool	true
author2	Laitman, Yael Gronwald, Jacek Winqvist, Robert Irmejs, Arvids Lubinski, Jan Pylkäs, Katri Gardovskis, Janis Miklasevics, Edvins Friedman, Eitan
author2Str	Laitman, Yael Gronwald, Jacek Winqvist, Robert Irmejs, Arvids Lubinski, Jan Pylkäs, Katri Gardovskis, Janis Miklasevics, Edvins Friedman, Eitan
ppnlink	320528324
mediatype_str_mv	c
isOA_txt	false
hochschulschrift_bool	false
doi_str	10.1007/s10689-009-9269-1
up_date	2024-07-04T03:13:14.730Z
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Haplotypes of the I157T CHEK2 germline mutation in ethnically diverse populations

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