Constitutional mismatch repair deficiency and Lynch syndrome among consecutive Arab Bedouins with colorectal cancer in Israel
Abstract We assessed the molecular characteristics and the frequency of mutations in mismatch-repair genes among Bedouin patients with colorectal cancer (CRC) in Israel. Bedouin patients with a diagnosis of CRC at a major hospital in the southern part of Israel were deemed eligible for this study. T...
Ausführliche Beschreibung
Autor*in: |
Abu Freha, Naim [verfasserIn] Leibovici Weissman, Yaara [verfasserIn] Fich, Alexander [verfasserIn] Barnes Kedar, Inbal [verfasserIn] Halpern, Marisa [verfasserIn] Sztarkier, Ignacio [verfasserIn] Behar, Doron M. [verfasserIn] Arbib Sneh, Orly [verfasserIn] Vilkin, Alex [verfasserIn] Baris, Hagit N. [verfasserIn] Gingold, Rachel [verfasserIn] Lejbkowicz, Flavio [verfasserIn] Niv, Yaron [verfasserIn] Goldberg, Yael [verfasserIn] Levi, Zohar [verfasserIn] |
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E-Artikel |
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Sprache: |
Englisch |
Erschienen: |
2017 |
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Schlagwörter: |
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Übergeordnetes Werk: |
Enthalten in: Familial cancer - Dordrecht [u.a.] : Springer Science + Business Media B.V, 2000, 17(2017), 1 vom: 12. Juni, Seite 79-86 |
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Übergeordnetes Werk: |
volume:17 ; year:2017 ; number:1 ; day:12 ; month:06 ; pages:79-86 |
Links: |
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DOI / URN: |
10.1007/s10689-017-0009-7 |
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Katalog-ID: |
SPR012479276 |
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520 | |a Abstract We assessed the molecular characteristics and the frequency of mutations in mismatch-repair genes among Bedouin patients with colorectal cancer (CRC) in Israel. Bedouin patients with a diagnosis of CRC at a major hospital in the southern part of Israel were deemed eligible for this study. The primary screening method was immunohistochemical staining for mismatch-repair proteins (MLH1, MSH2, MSH6, and PMS2). For subjects with abnormal immunohistochemical staining, we performed microsatellite instability (MSI) analyses, and for tumors with a loss of MLH1 expression we also performed BRAF testing. In MSI high cases we searched further for germline mutations. Of the 24 patients enrolled, four subjects (16.7%) had MSI high tumors: one subject was found to harbor a biallelic PMS2 mutation, one subject had Lynch syndrome (LS) with MSH6 mutation and two subjects had a loss of MLH1/PMS2 proteins/BRAFwild type/normal MLH1 sequence. Ten patients (41.7%) were younger than 50 at the time of diagnosis and none had first degree relatives with CRC. In conclusion, in this cohort of 24 consecutive Arab Bedouins with CRC, one patient was found to harbor a constitutional mismatch repair deficiency, one patient had LS with MSH6 mutation, and two patients had unresolved loss of MLH1/PMS2 proteins/BRAFwild type phenotype. | ||
650 | 4 | |a Bedouin |7 (dpeaa)DE-He213 | |
650 | 4 | |a Colorectal cancer |7 (dpeaa)DE-He213 | |
650 | 4 | |a Lynch syndrome |7 (dpeaa)DE-He213 | |
650 | 4 | |a Mismatch repair protein |7 (dpeaa)DE-He213 | |
650 | 4 | |a Constitutional mismatch repair deficiency |7 (dpeaa)DE-He213 | |
700 | 1 | |a Leibovici Weissman, Yaara |e verfasserin |4 aut | |
700 | 1 | |a Fich, Alexander |e verfasserin |4 aut | |
700 | 1 | |a Barnes Kedar, Inbal |e verfasserin |4 aut | |
700 | 1 | |a Halpern, Marisa |e verfasserin |4 aut | |
700 | 1 | |a Sztarkier, Ignacio |e verfasserin |4 aut | |
700 | 1 | |a Behar, Doron M. |e verfasserin |4 aut | |
700 | 1 | |a Arbib Sneh, Orly |e verfasserin |4 aut | |
700 | 1 | |a Vilkin, Alex |e verfasserin |4 aut | |
700 | 1 | |a Baris, Hagit N. |e verfasserin |4 aut | |
700 | 1 | |a Gingold, Rachel |e verfasserin |4 aut | |
700 | 1 | |a Lejbkowicz, Flavio |e verfasserin |4 aut | |
700 | 1 | |a Niv, Yaron |e verfasserin |4 aut | |
700 | 1 | |a Goldberg, Yael |e verfasserin |4 aut | |
700 | 1 | |a Levi, Zohar |e verfasserin |4 aut | |
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10.1007/s10689-017-0009-7 doi (DE-627)SPR012479276 (SPR)s10689-017-0009-7-e DE-627 ger DE-627 rakwb eng 610 ASE 44.81 bkl Abu Freha, Naim verfasserin aut Constitutional mismatch repair deficiency and Lynch syndrome among consecutive Arab Bedouins with colorectal cancer in Israel 2017 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier Abstract We assessed the molecular characteristics and the frequency of mutations in mismatch-repair genes among Bedouin patients with colorectal cancer (CRC) in Israel. Bedouin patients with a diagnosis of CRC at a major hospital in the southern part of Israel were deemed eligible for this study. The primary screening method was immunohistochemical staining for mismatch-repair proteins (MLH1, MSH2, MSH6, and PMS2). For subjects with abnormal immunohistochemical staining, we performed microsatellite instability (MSI) analyses, and for tumors with a loss of MLH1 expression we also performed BRAF testing. In MSI high cases we searched further for germline mutations. Of the 24 patients enrolled, four subjects (16.7%) had MSI high tumors: one subject was found to harbor a biallelic PMS2 mutation, one subject had Lynch syndrome (LS) with MSH6 mutation and two subjects had a loss of MLH1/PMS2 proteins/BRAFwild type/normal MLH1 sequence. Ten patients (41.7%) were younger than 50 at the time of diagnosis and none had first degree relatives with CRC. In conclusion, in this cohort of 24 consecutive Arab Bedouins with CRC, one patient was found to harbor a constitutional mismatch repair deficiency, one patient had LS with MSH6 mutation, and two patients had unresolved loss of MLH1/PMS2 proteins/BRAFwild type phenotype. Bedouin (dpeaa)DE-He213 Colorectal cancer (dpeaa)DE-He213 Lynch syndrome (dpeaa)DE-He213 Mismatch repair protein (dpeaa)DE-He213 Constitutional mismatch repair deficiency (dpeaa)DE-He213 Leibovici Weissman, Yaara verfasserin aut Fich, Alexander verfasserin aut Barnes Kedar, Inbal verfasserin aut Halpern, Marisa verfasserin aut Sztarkier, Ignacio verfasserin aut Behar, Doron M. verfasserin aut Arbib Sneh, Orly verfasserin aut Vilkin, Alex verfasserin aut Baris, Hagit N. verfasserin aut Gingold, Rachel verfasserin aut Lejbkowicz, Flavio verfasserin aut Niv, Yaron verfasserin aut Goldberg, Yael verfasserin aut Levi, Zohar verfasserin aut Enthalten in Familial cancer Dordrecht [u.a.] : Springer Science + Business Media B.V, 2000 17(2017), 1 vom: 12. Juni, Seite 79-86 (DE-627)320528324 (DE-600)2015448-3 1573-7292 nnns volume:17 year:2017 number:1 day:12 month:06 pages:79-86 https://dx.doi.org/10.1007/s10689-017-0009-7 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 17 2017 1 12 06 79-86 |
spelling |
10.1007/s10689-017-0009-7 doi (DE-627)SPR012479276 (SPR)s10689-017-0009-7-e DE-627 ger DE-627 rakwb eng 610 ASE 44.81 bkl Abu Freha, Naim verfasserin aut Constitutional mismatch repair deficiency and Lynch syndrome among consecutive Arab Bedouins with colorectal cancer in Israel 2017 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier Abstract We assessed the molecular characteristics and the frequency of mutations in mismatch-repair genes among Bedouin patients with colorectal cancer (CRC) in Israel. Bedouin patients with a diagnosis of CRC at a major hospital in the southern part of Israel were deemed eligible for this study. The primary screening method was immunohistochemical staining for mismatch-repair proteins (MLH1, MSH2, MSH6, and PMS2). For subjects with abnormal immunohistochemical staining, we performed microsatellite instability (MSI) analyses, and for tumors with a loss of MLH1 expression we also performed BRAF testing. In MSI high cases we searched further for germline mutations. Of the 24 patients enrolled, four subjects (16.7%) had MSI high tumors: one subject was found to harbor a biallelic PMS2 mutation, one subject had Lynch syndrome (LS) with MSH6 mutation and two subjects had a loss of MLH1/PMS2 proteins/BRAFwild type/normal MLH1 sequence. Ten patients (41.7%) were younger than 50 at the time of diagnosis and none had first degree relatives with CRC. In conclusion, in this cohort of 24 consecutive Arab Bedouins with CRC, one patient was found to harbor a constitutional mismatch repair deficiency, one patient had LS with MSH6 mutation, and two patients had unresolved loss of MLH1/PMS2 proteins/BRAFwild type phenotype. Bedouin (dpeaa)DE-He213 Colorectal cancer (dpeaa)DE-He213 Lynch syndrome (dpeaa)DE-He213 Mismatch repair protein (dpeaa)DE-He213 Constitutional mismatch repair deficiency (dpeaa)DE-He213 Leibovici Weissman, Yaara verfasserin aut Fich, Alexander verfasserin aut Barnes Kedar, Inbal verfasserin aut Halpern, Marisa verfasserin aut Sztarkier, Ignacio verfasserin aut Behar, Doron M. verfasserin aut Arbib Sneh, Orly verfasserin aut Vilkin, Alex verfasserin aut Baris, Hagit N. verfasserin aut Gingold, Rachel verfasserin aut Lejbkowicz, Flavio verfasserin aut Niv, Yaron verfasserin aut Goldberg, Yael verfasserin aut Levi, Zohar verfasserin aut Enthalten in Familial cancer Dordrecht [u.a.] : Springer Science + Business Media B.V, 2000 17(2017), 1 vom: 12. Juni, Seite 79-86 (DE-627)320528324 (DE-600)2015448-3 1573-7292 nnns volume:17 year:2017 number:1 day:12 month:06 pages:79-86 https://dx.doi.org/10.1007/s10689-017-0009-7 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 17 2017 1 12 06 79-86 |
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10.1007/s10689-017-0009-7 doi (DE-627)SPR012479276 (SPR)s10689-017-0009-7-e DE-627 ger DE-627 rakwb eng 610 ASE 44.81 bkl Abu Freha, Naim verfasserin aut Constitutional mismatch repair deficiency and Lynch syndrome among consecutive Arab Bedouins with colorectal cancer in Israel 2017 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier Abstract We assessed the molecular characteristics and the frequency of mutations in mismatch-repair genes among Bedouin patients with colorectal cancer (CRC) in Israel. Bedouin patients with a diagnosis of CRC at a major hospital in the southern part of Israel were deemed eligible for this study. The primary screening method was immunohistochemical staining for mismatch-repair proteins (MLH1, MSH2, MSH6, and PMS2). For subjects with abnormal immunohistochemical staining, we performed microsatellite instability (MSI) analyses, and for tumors with a loss of MLH1 expression we also performed BRAF testing. In MSI high cases we searched further for germline mutations. Of the 24 patients enrolled, four subjects (16.7%) had MSI high tumors: one subject was found to harbor a biallelic PMS2 mutation, one subject had Lynch syndrome (LS) with MSH6 mutation and two subjects had a loss of MLH1/PMS2 proteins/BRAFwild type/normal MLH1 sequence. Ten patients (41.7%) were younger than 50 at the time of diagnosis and none had first degree relatives with CRC. In conclusion, in this cohort of 24 consecutive Arab Bedouins with CRC, one patient was found to harbor a constitutional mismatch repair deficiency, one patient had LS with MSH6 mutation, and two patients had unresolved loss of MLH1/PMS2 proteins/BRAFwild type phenotype. Bedouin (dpeaa)DE-He213 Colorectal cancer (dpeaa)DE-He213 Lynch syndrome (dpeaa)DE-He213 Mismatch repair protein (dpeaa)DE-He213 Constitutional mismatch repair deficiency (dpeaa)DE-He213 Leibovici Weissman, Yaara verfasserin aut Fich, Alexander verfasserin aut Barnes Kedar, Inbal verfasserin aut Halpern, Marisa verfasserin aut Sztarkier, Ignacio verfasserin aut Behar, Doron M. verfasserin aut Arbib Sneh, Orly verfasserin aut Vilkin, Alex verfasserin aut Baris, Hagit N. verfasserin aut Gingold, Rachel verfasserin aut Lejbkowicz, Flavio verfasserin aut Niv, Yaron verfasserin aut Goldberg, Yael verfasserin aut Levi, Zohar verfasserin aut Enthalten in Familial cancer Dordrecht [u.a.] : Springer Science + Business Media B.V, 2000 17(2017), 1 vom: 12. Juni, Seite 79-86 (DE-627)320528324 (DE-600)2015448-3 1573-7292 nnns volume:17 year:2017 number:1 day:12 month:06 pages:79-86 https://dx.doi.org/10.1007/s10689-017-0009-7 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 17 2017 1 12 06 79-86 |
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10.1007/s10689-017-0009-7 doi (DE-627)SPR012479276 (SPR)s10689-017-0009-7-e DE-627 ger DE-627 rakwb eng 610 ASE 44.81 bkl Abu Freha, Naim verfasserin aut Constitutional mismatch repair deficiency and Lynch syndrome among consecutive Arab Bedouins with colorectal cancer in Israel 2017 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier Abstract We assessed the molecular characteristics and the frequency of mutations in mismatch-repair genes among Bedouin patients with colorectal cancer (CRC) in Israel. Bedouin patients with a diagnosis of CRC at a major hospital in the southern part of Israel were deemed eligible for this study. The primary screening method was immunohistochemical staining for mismatch-repair proteins (MLH1, MSH2, MSH6, and PMS2). For subjects with abnormal immunohistochemical staining, we performed microsatellite instability (MSI) analyses, and for tumors with a loss of MLH1 expression we also performed BRAF testing. In MSI high cases we searched further for germline mutations. Of the 24 patients enrolled, four subjects (16.7%) had MSI high tumors: one subject was found to harbor a biallelic PMS2 mutation, one subject had Lynch syndrome (LS) with MSH6 mutation and two subjects had a loss of MLH1/PMS2 proteins/BRAFwild type/normal MLH1 sequence. Ten patients (41.7%) were younger than 50 at the time of diagnosis and none had first degree relatives with CRC. In conclusion, in this cohort of 24 consecutive Arab Bedouins with CRC, one patient was found to harbor a constitutional mismatch repair deficiency, one patient had LS with MSH6 mutation, and two patients had unresolved loss of MLH1/PMS2 proteins/BRAFwild type phenotype. Bedouin (dpeaa)DE-He213 Colorectal cancer (dpeaa)DE-He213 Lynch syndrome (dpeaa)DE-He213 Mismatch repair protein (dpeaa)DE-He213 Constitutional mismatch repair deficiency (dpeaa)DE-He213 Leibovici Weissman, Yaara verfasserin aut Fich, Alexander verfasserin aut Barnes Kedar, Inbal verfasserin aut Halpern, Marisa verfasserin aut Sztarkier, Ignacio verfasserin aut Behar, Doron M. verfasserin aut Arbib Sneh, Orly verfasserin aut Vilkin, Alex verfasserin aut Baris, Hagit N. verfasserin aut Gingold, Rachel verfasserin aut Lejbkowicz, Flavio verfasserin aut Niv, Yaron verfasserin aut Goldberg, Yael verfasserin aut Levi, Zohar verfasserin aut Enthalten in Familial cancer Dordrecht [u.a.] : Springer Science + Business Media B.V, 2000 17(2017), 1 vom: 12. Juni, Seite 79-86 (DE-627)320528324 (DE-600)2015448-3 1573-7292 nnns volume:17 year:2017 number:1 day:12 month:06 pages:79-86 https://dx.doi.org/10.1007/s10689-017-0009-7 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 17 2017 1 12 06 79-86 |
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10.1007/s10689-017-0009-7 doi (DE-627)SPR012479276 (SPR)s10689-017-0009-7-e DE-627 ger DE-627 rakwb eng 610 ASE 44.81 bkl Abu Freha, Naim verfasserin aut Constitutional mismatch repair deficiency and Lynch syndrome among consecutive Arab Bedouins with colorectal cancer in Israel 2017 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier Abstract We assessed the molecular characteristics and the frequency of mutations in mismatch-repair genes among Bedouin patients with colorectal cancer (CRC) in Israel. Bedouin patients with a diagnosis of CRC at a major hospital in the southern part of Israel were deemed eligible for this study. The primary screening method was immunohistochemical staining for mismatch-repair proteins (MLH1, MSH2, MSH6, and PMS2). For subjects with abnormal immunohistochemical staining, we performed microsatellite instability (MSI) analyses, and for tumors with a loss of MLH1 expression we also performed BRAF testing. In MSI high cases we searched further for germline mutations. Of the 24 patients enrolled, four subjects (16.7%) had MSI high tumors: one subject was found to harbor a biallelic PMS2 mutation, one subject had Lynch syndrome (LS) with MSH6 mutation and two subjects had a loss of MLH1/PMS2 proteins/BRAFwild type/normal MLH1 sequence. Ten patients (41.7%) were younger than 50 at the time of diagnosis and none had first degree relatives with CRC. In conclusion, in this cohort of 24 consecutive Arab Bedouins with CRC, one patient was found to harbor a constitutional mismatch repair deficiency, one patient had LS with MSH6 mutation, and two patients had unresolved loss of MLH1/PMS2 proteins/BRAFwild type phenotype. Bedouin (dpeaa)DE-He213 Colorectal cancer (dpeaa)DE-He213 Lynch syndrome (dpeaa)DE-He213 Mismatch repair protein (dpeaa)DE-He213 Constitutional mismatch repair deficiency (dpeaa)DE-He213 Leibovici Weissman, Yaara verfasserin aut Fich, Alexander verfasserin aut Barnes Kedar, Inbal verfasserin aut Halpern, Marisa verfasserin aut Sztarkier, Ignacio verfasserin aut Behar, Doron M. verfasserin aut Arbib Sneh, Orly verfasserin aut Vilkin, Alex verfasserin aut Baris, Hagit N. verfasserin aut Gingold, Rachel verfasserin aut Lejbkowicz, Flavio verfasserin aut Niv, Yaron verfasserin aut Goldberg, Yael verfasserin aut Levi, Zohar verfasserin aut Enthalten in Familial cancer Dordrecht [u.a.] : Springer Science + Business Media B.V, 2000 17(2017), 1 vom: 12. Juni, Seite 79-86 (DE-627)320528324 (DE-600)2015448-3 1573-7292 nnns volume:17 year:2017 number:1 day:12 month:06 pages:79-86 https://dx.doi.org/10.1007/s10689-017-0009-7 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 17 2017 1 12 06 79-86 |
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English |
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Enthalten in Familial cancer 17(2017), 1 vom: 12. Juni, Seite 79-86 volume:17 year:2017 number:1 day:12 month:06 pages:79-86 |
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Enthalten in Familial cancer 17(2017), 1 vom: 12. Juni, Seite 79-86 volume:17 year:2017 number:1 day:12 month:06 pages:79-86 |
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Article |
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topic_facet |
Bedouin Colorectal cancer Lynch syndrome Mismatch repair protein Constitutional mismatch repair deficiency |
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Familial cancer |
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Abu Freha, Naim @@aut@@ Leibovici Weissman, Yaara @@aut@@ Fich, Alexander @@aut@@ Barnes Kedar, Inbal @@aut@@ Halpern, Marisa @@aut@@ Sztarkier, Ignacio @@aut@@ Behar, Doron M. @@aut@@ Arbib Sneh, Orly @@aut@@ Vilkin, Alex @@aut@@ Baris, Hagit N. @@aut@@ Gingold, Rachel @@aut@@ Lejbkowicz, Flavio @@aut@@ Niv, Yaron @@aut@@ Goldberg, Yael @@aut@@ Levi, Zohar @@aut@@ |
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2017-06-12T00:00:00Z |
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Bedouin patients with a diagnosis of CRC at a major hospital in the southern part of Israel were deemed eligible for this study. The primary screening method was immunohistochemical staining for mismatch-repair proteins (MLH1, MSH2, MSH6, and PMS2). For subjects with abnormal immunohistochemical staining, we performed microsatellite instability (MSI) analyses, and for tumors with a loss of MLH1 expression we also performed BRAF testing. In MSI high cases we searched further for germline mutations. Of the 24 patients enrolled, four subjects (16.7%) had MSI high tumors: one subject was found to harbor a biallelic PMS2 mutation, one subject had Lynch syndrome (LS) with MSH6 mutation and two subjects had a loss of MLH1/PMS2 proteins/BRAFwild type/normal MLH1 sequence. Ten patients (41.7%) were younger than 50 at the time of diagnosis and none had first degree relatives with CRC. 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author |
Abu Freha, Naim |
spellingShingle |
Abu Freha, Naim ddc 610 bkl 44.81 misc Bedouin misc Colorectal cancer misc Lynch syndrome misc Mismatch repair protein misc Constitutional mismatch repair deficiency Constitutional mismatch repair deficiency and Lynch syndrome among consecutive Arab Bedouins with colorectal cancer in Israel |
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Abu Freha, Naim |
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1573-7292 |
topic_title |
610 ASE 44.81 bkl Constitutional mismatch repair deficiency and Lynch syndrome among consecutive Arab Bedouins with colorectal cancer in Israel Bedouin (dpeaa)DE-He213 Colorectal cancer (dpeaa)DE-He213 Lynch syndrome (dpeaa)DE-He213 Mismatch repair protein (dpeaa)DE-He213 Constitutional mismatch repair deficiency (dpeaa)DE-He213 |
topic |
ddc 610 bkl 44.81 misc Bedouin misc Colorectal cancer misc Lynch syndrome misc Mismatch repair protein misc Constitutional mismatch repair deficiency |
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ddc 610 bkl 44.81 misc Bedouin misc Colorectal cancer misc Lynch syndrome misc Mismatch repair protein misc Constitutional mismatch repair deficiency |
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ddc 610 bkl 44.81 misc Bedouin misc Colorectal cancer misc Lynch syndrome misc Mismatch repair protein misc Constitutional mismatch repair deficiency |
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Constitutional mismatch repair deficiency and Lynch syndrome among consecutive Arab Bedouins with colorectal cancer in Israel |
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Constitutional mismatch repair deficiency and Lynch syndrome among consecutive Arab Bedouins with colorectal cancer in Israel |
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Abu Freha, Naim Leibovici Weissman, Yaara Fich, Alexander Barnes Kedar, Inbal Halpern, Marisa Sztarkier, Ignacio Behar, Doron M. Arbib Sneh, Orly Vilkin, Alex Baris, Hagit N. Gingold, Rachel Lejbkowicz, Flavio Niv, Yaron Goldberg, Yael Levi, Zohar |
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constitutional mismatch repair deficiency and lynch syndrome among consecutive arab bedouins with colorectal cancer in israel |
title_auth |
Constitutional mismatch repair deficiency and Lynch syndrome among consecutive Arab Bedouins with colorectal cancer in Israel |
abstract |
Abstract We assessed the molecular characteristics and the frequency of mutations in mismatch-repair genes among Bedouin patients with colorectal cancer (CRC) in Israel. Bedouin patients with a diagnosis of CRC at a major hospital in the southern part of Israel were deemed eligible for this study. The primary screening method was immunohistochemical staining for mismatch-repair proteins (MLH1, MSH2, MSH6, and PMS2). For subjects with abnormal immunohistochemical staining, we performed microsatellite instability (MSI) analyses, and for tumors with a loss of MLH1 expression we also performed BRAF testing. In MSI high cases we searched further for germline mutations. Of the 24 patients enrolled, four subjects (16.7%) had MSI high tumors: one subject was found to harbor a biallelic PMS2 mutation, one subject had Lynch syndrome (LS) with MSH6 mutation and two subjects had a loss of MLH1/PMS2 proteins/BRAFwild type/normal MLH1 sequence. Ten patients (41.7%) were younger than 50 at the time of diagnosis and none had first degree relatives with CRC. In conclusion, in this cohort of 24 consecutive Arab Bedouins with CRC, one patient was found to harbor a constitutional mismatch repair deficiency, one patient had LS with MSH6 mutation, and two patients had unresolved loss of MLH1/PMS2 proteins/BRAFwild type phenotype. |
abstractGer |
Abstract We assessed the molecular characteristics and the frequency of mutations in mismatch-repair genes among Bedouin patients with colorectal cancer (CRC) in Israel. Bedouin patients with a diagnosis of CRC at a major hospital in the southern part of Israel were deemed eligible for this study. The primary screening method was immunohistochemical staining for mismatch-repair proteins (MLH1, MSH2, MSH6, and PMS2). For subjects with abnormal immunohistochemical staining, we performed microsatellite instability (MSI) analyses, and for tumors with a loss of MLH1 expression we also performed BRAF testing. In MSI high cases we searched further for germline mutations. Of the 24 patients enrolled, four subjects (16.7%) had MSI high tumors: one subject was found to harbor a biallelic PMS2 mutation, one subject had Lynch syndrome (LS) with MSH6 mutation and two subjects had a loss of MLH1/PMS2 proteins/BRAFwild type/normal MLH1 sequence. Ten patients (41.7%) were younger than 50 at the time of diagnosis and none had first degree relatives with CRC. In conclusion, in this cohort of 24 consecutive Arab Bedouins with CRC, one patient was found to harbor a constitutional mismatch repair deficiency, one patient had LS with MSH6 mutation, and two patients had unresolved loss of MLH1/PMS2 proteins/BRAFwild type phenotype. |
abstract_unstemmed |
Abstract We assessed the molecular characteristics and the frequency of mutations in mismatch-repair genes among Bedouin patients with colorectal cancer (CRC) in Israel. Bedouin patients with a diagnosis of CRC at a major hospital in the southern part of Israel were deemed eligible for this study. The primary screening method was immunohistochemical staining for mismatch-repair proteins (MLH1, MSH2, MSH6, and PMS2). For subjects with abnormal immunohistochemical staining, we performed microsatellite instability (MSI) analyses, and for tumors with a loss of MLH1 expression we also performed BRAF testing. In MSI high cases we searched further for germline mutations. Of the 24 patients enrolled, four subjects (16.7%) had MSI high tumors: one subject was found to harbor a biallelic PMS2 mutation, one subject had Lynch syndrome (LS) with MSH6 mutation and two subjects had a loss of MLH1/PMS2 proteins/BRAFwild type/normal MLH1 sequence. Ten patients (41.7%) were younger than 50 at the time of diagnosis and none had first degree relatives with CRC. In conclusion, in this cohort of 24 consecutive Arab Bedouins with CRC, one patient was found to harbor a constitutional mismatch repair deficiency, one patient had LS with MSH6 mutation, and two patients had unresolved loss of MLH1/PMS2 proteins/BRAFwild type phenotype. |
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Constitutional mismatch repair deficiency and Lynch syndrome among consecutive Arab Bedouins with colorectal cancer in Israel |
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Leibovici Weissman, Yaara Fich, Alexander Barnes Kedar, Inbal Halpern, Marisa Sztarkier, Ignacio Behar, Doron M. Arbib Sneh, Orly Vilkin, Alex Baris, Hagit N. Gingold, Rachel Lejbkowicz, Flavio Niv, Yaron Goldberg, Yael Levi, Zohar |
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|
score |
7.3998203 |