Comprehensive analysis of NuMAvariation in breast cancer

Background A recent genome wide case-control association study identified NuMA region on 11q13 as a candidate locus for breast cancer susceptibility. Specifically, the variant Ala794Gly was suggested to be associated with increased risk of breast cancer. Methods In order to evaluate the NuMa gene fo...
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Autor*in:	Kilpivaara, Outi [verfasserIn] Rantanen, Matias Tamminen, Anitta Aittomäki, Kristiina Blomqvist, Carl Nevanlinna, Heli

Format:	E-Artikel
Sprache:	Englisch

Erschienen:	2008

Schlagwörter:	Breast Cancer Breast Cancer Risk Acute Promyelocytic Leukemia Breast Cancer Case Breast Cancer Susceptibility

Anmerkung:	© Kilpivaara et al; licensee BioMed Central Ltd. 2008

Übergeordnetes Werk:	Enthalten in: BMC cancer - London : BioMed Central, 2001, 8(2008), 1 vom: 10. März
Übergeordnetes Werk:	volume:8 ; year:2008 ; number:1 ; day:10 ; month:03

Links:	Volltext

DOI / URN:	10.1186/1471-2407-8-71

Katalog-ID:	SPR027613178

Internformat


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245	1	0	\|a Comprehensive analysis of NuMAvariation in breast cancer
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520			\|a Background A recent genome wide case-control association study identified NuMA region on 11q13 as a candidate locus for breast cancer susceptibility. Specifically, the variant Ala794Gly was suggested to be associated with increased risk of breast cancer. Methods In order to evaluate the NuMa gene for breast cancer susceptibility, we have here screened the entire coding region and exon-intron boundaries of NuMa in 92 familial breast cancer patients and constructed haplotypes of the identified variants. Five missense variants were further screened in 341 breast cancer cases with a positive family history and 368 controls. We examined the frequency of Ala794Gly in an extensive series of familial (n = 910) and unselected (n = 884) breast cancer cases and controls (n = 906), with a high power to detect the suggested breast cancer risk. We also tested if the variant is associated with histopathologic features of breast tumors. Results Screening of NuMA resulted in identification of 11 exonic variants and 12 variants in introns or untranslated regions. Five missense variants that were further screened in breast cancer cases with a positive family history and controls, were each carried on a unique haplotype. None of the variants, or the haplotypes represented by them, was associated with breast cancer risk although due to low power in this analysis, very low risk alleles may go unrecognized. The NuMA Ala794Gly showed no difference in frequency in the unselected breast cancer case series or familial case series compared to control cases. Furthermore, Ala794Gly did not show any significant association with histopathologic characteristics of the tumors, though Ala794Gly was slightly more frequent among unselected cases with lymph node involvement. Conclusion Our results do not support the role of NuMA variants as breast cancer susceptibility alleles.
650		4	\|a Breast Cancer \|7 (dpeaa)DE-He213
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650		4	\|a Acute Promyelocytic Leukemia \|7 (dpeaa)DE-He213
650		4	\|a Breast Cancer Case \|7 (dpeaa)DE-He213
650		4	\|a Breast Cancer Susceptibility \|7 (dpeaa)DE-He213
700	1		\|a Rantanen, Matias \|4 aut
700	1		\|a Tamminen, Anitta \|4 aut
700	1		\|a Aittomäki, Kristiina \|4 aut
700	1		\|a Blomqvist, Carl \|4 aut
700	1		\|a Nevanlinna, Heli \|4 aut
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912			\|a GBV_USEFLAG_A
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912			\|a GBV_ILN_170
912			\|a GBV_ILN_206
912			\|a GBV_ILN_213
912			\|a GBV_ILN_230
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912			\|a GBV_ILN_2014
912			\|a GBV_ILN_2015
912			\|a GBV_ILN_2020
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912			\|a GBV_ILN_2025
912			\|a GBV_ILN_2031
912			\|a GBV_ILN_2038
912			\|a GBV_ILN_2044
912			\|a GBV_ILN_2048
912			\|a GBV_ILN_2050
912			\|a GBV_ILN_2055
912			\|a GBV_ILN_2056
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912			\|a GBV_ILN_2061
912			\|a GBV_ILN_2111
912			\|a GBV_ILN_2113
912			\|a GBV_ILN_2190
912			\|a GBV_ILN_4012
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912			\|a GBV_ILN_4323
912			\|a GBV_ILN_4324
912			\|a GBV_ILN_4325
912			\|a GBV_ILN_4338
912			\|a GBV_ILN_4367
912			\|a GBV_ILN_4700
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author_variant	o k ok m r mr a t at k a ka c b cb h n hn
matchkey_str	article:14712407:2008----::opeesvaayionmvrain
hierarchy_sort_str	2008
publishDate	2008
allfields	10.1186/1471-2407-8-71 doi (DE-627)SPR027613178 (SPR)1471-2407-8-71-e DE-627 ger DE-627 rakwb eng Kilpivaara, Outi verfasserin aut Comprehensive analysis of NuMAvariation in breast cancer 2008 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier © Kilpivaara et al; licensee BioMed Central Ltd. 2008 Background A recent genome wide case-control association study identified NuMA region on 11q13 as a candidate locus for breast cancer susceptibility. Specifically, the variant Ala794Gly was suggested to be associated with increased risk of breast cancer. Methods In order to evaluate the NuMa gene for breast cancer susceptibility, we have here screened the entire coding region and exon-intron boundaries of NuMa in 92 familial breast cancer patients and constructed haplotypes of the identified variants. Five missense variants were further screened in 341 breast cancer cases with a positive family history and 368 controls. We examined the frequency of Ala794Gly in an extensive series of familial (n = 910) and unselected (n = 884) breast cancer cases and controls (n = 906), with a high power to detect the suggested breast cancer risk. We also tested if the variant is associated with histopathologic features of breast tumors. Results Screening of NuMA resulted in identification of 11 exonic variants and 12 variants in introns or untranslated regions. Five missense variants that were further screened in breast cancer cases with a positive family history and controls, were each carried on a unique haplotype. None of the variants, or the haplotypes represented by them, was associated with breast cancer risk although due to low power in this analysis, very low risk alleles may go unrecognized. The NuMA Ala794Gly showed no difference in frequency in the unselected breast cancer case series or familial case series compared to control cases. Furthermore, Ala794Gly did not show any significant association with histopathologic characteristics of the tumors, though Ala794Gly was slightly more frequent among unselected cases with lymph node involvement. Conclusion Our results do not support the role of NuMA variants as breast cancer susceptibility alleles. Breast Cancer (dpeaa)DE-He213 Breast Cancer Risk (dpeaa)DE-He213 Acute Promyelocytic Leukemia (dpeaa)DE-He213 Breast Cancer Case (dpeaa)DE-He213 Breast Cancer Susceptibility (dpeaa)DE-He213 Rantanen, Matias aut Tamminen, Anitta aut Aittomäki, Kristiina aut Blomqvist, Carl aut Nevanlinna, Heli aut Enthalten in BMC cancer London : BioMed Central, 2001 8(2008), 1 vom: 10. März (DE-627)326643710 (DE-600)2041352-X 1471-2407 nnns volume:8 year:2008 number:1 day:10 month:03 https://dx.doi.org/10.1186/1471-2407-8-71 kostenfrei Volltext GBV_USEFLAG_A SYSFLAG_A GBV_SPRINGER SSG-OLC-PHA 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_702 GBV_ILN_2001 GBV_ILN_2003 GBV_ILN_2005 GBV_ILN_2006 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_2031 GBV_ILN_2038 GBV_ILN_2044 GBV_ILN_2048 GBV_ILN_2050 GBV_ILN_2055 GBV_ILN_2056 GBV_ILN_2057 GBV_ILN_2061 GBV_ILN_2111 GBV_ILN_2113 GBV_ILN_2190 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 8 2008 1 10 03
spelling	10.1186/1471-2407-8-71 doi (DE-627)SPR027613178 (SPR)1471-2407-8-71-e DE-627 ger DE-627 rakwb eng Kilpivaara, Outi verfasserin aut Comprehensive analysis of NuMAvariation in breast cancer 2008 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier © Kilpivaara et al; licensee BioMed Central Ltd. 2008 Background A recent genome wide case-control association study identified NuMA region on 11q13 as a candidate locus for breast cancer susceptibility. Specifically, the variant Ala794Gly was suggested to be associated with increased risk of breast cancer. Methods In order to evaluate the NuMa gene for breast cancer susceptibility, we have here screened the entire coding region and exon-intron boundaries of NuMa in 92 familial breast cancer patients and constructed haplotypes of the identified variants. Five missense variants were further screened in 341 breast cancer cases with a positive family history and 368 controls. We examined the frequency of Ala794Gly in an extensive series of familial (n = 910) and unselected (n = 884) breast cancer cases and controls (n = 906), with a high power to detect the suggested breast cancer risk. We also tested if the variant is associated with histopathologic features of breast tumors. Results Screening of NuMA resulted in identification of 11 exonic variants and 12 variants in introns or untranslated regions. Five missense variants that were further screened in breast cancer cases with a positive family history and controls, were each carried on a unique haplotype. None of the variants, or the haplotypes represented by them, was associated with breast cancer risk although due to low power in this analysis, very low risk alleles may go unrecognized. The NuMA Ala794Gly showed no difference in frequency in the unselected breast cancer case series or familial case series compared to control cases. Furthermore, Ala794Gly did not show any significant association with histopathologic characteristics of the tumors, though Ala794Gly was slightly more frequent among unselected cases with lymph node involvement. Conclusion Our results do not support the role of NuMA variants as breast cancer susceptibility alleles. Breast Cancer (dpeaa)DE-He213 Breast Cancer Risk (dpeaa)DE-He213 Acute Promyelocytic Leukemia (dpeaa)DE-He213 Breast Cancer Case (dpeaa)DE-He213 Breast Cancer Susceptibility (dpeaa)DE-He213 Rantanen, Matias aut Tamminen, Anitta aut Aittomäki, Kristiina aut Blomqvist, Carl aut Nevanlinna, Heli aut Enthalten in BMC cancer London : BioMed Central, 2001 8(2008), 1 vom: 10. März (DE-627)326643710 (DE-600)2041352-X 1471-2407 nnns volume:8 year:2008 number:1 day:10 month:03 https://dx.doi.org/10.1186/1471-2407-8-71 kostenfrei Volltext GBV_USEFLAG_A SYSFLAG_A GBV_SPRINGER SSG-OLC-PHA 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_702 GBV_ILN_2001 GBV_ILN_2003 GBV_ILN_2005 GBV_ILN_2006 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_2031 GBV_ILN_2038 GBV_ILN_2044 GBV_ILN_2048 GBV_ILN_2050 GBV_ILN_2055 GBV_ILN_2056 GBV_ILN_2057 GBV_ILN_2061 GBV_ILN_2111 GBV_ILN_2113 GBV_ILN_2190 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 8 2008 1 10 03
allfields_unstemmed	10.1186/1471-2407-8-71 doi (DE-627)SPR027613178 (SPR)1471-2407-8-71-e DE-627 ger DE-627 rakwb eng Kilpivaara, Outi verfasserin aut Comprehensive analysis of NuMAvariation in breast cancer 2008 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier © Kilpivaara et al; licensee BioMed Central Ltd. 2008 Background A recent genome wide case-control association study identified NuMA region on 11q13 as a candidate locus for breast cancer susceptibility. Specifically, the variant Ala794Gly was suggested to be associated with increased risk of breast cancer. Methods In order to evaluate the NuMa gene for breast cancer susceptibility, we have here screened the entire coding region and exon-intron boundaries of NuMa in 92 familial breast cancer patients and constructed haplotypes of the identified variants. Five missense variants were further screened in 341 breast cancer cases with a positive family history and 368 controls. We examined the frequency of Ala794Gly in an extensive series of familial (n = 910) and unselected (n = 884) breast cancer cases and controls (n = 906), with a high power to detect the suggested breast cancer risk. We also tested if the variant is associated with histopathologic features of breast tumors. Results Screening of NuMA resulted in identification of 11 exonic variants and 12 variants in introns or untranslated regions. Five missense variants that were further screened in breast cancer cases with a positive family history and controls, were each carried on a unique haplotype. None of the variants, or the haplotypes represented by them, was associated with breast cancer risk although due to low power in this analysis, very low risk alleles may go unrecognized. The NuMA Ala794Gly showed no difference in frequency in the unselected breast cancer case series or familial case series compared to control cases. Furthermore, Ala794Gly did not show any significant association with histopathologic characteristics of the tumors, though Ala794Gly was slightly more frequent among unselected cases with lymph node involvement. Conclusion Our results do not support the role of NuMA variants as breast cancer susceptibility alleles. Breast Cancer (dpeaa)DE-He213 Breast Cancer Risk (dpeaa)DE-He213 Acute Promyelocytic Leukemia (dpeaa)DE-He213 Breast Cancer Case (dpeaa)DE-He213 Breast Cancer Susceptibility (dpeaa)DE-He213 Rantanen, Matias aut Tamminen, Anitta aut Aittomäki, Kristiina aut Blomqvist, Carl aut Nevanlinna, Heli aut Enthalten in BMC cancer London : BioMed Central, 2001 8(2008), 1 vom: 10. März (DE-627)326643710 (DE-600)2041352-X 1471-2407 nnns volume:8 year:2008 number:1 day:10 month:03 https://dx.doi.org/10.1186/1471-2407-8-71 kostenfrei Volltext GBV_USEFLAG_A SYSFLAG_A GBV_SPRINGER SSG-OLC-PHA 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_702 GBV_ILN_2001 GBV_ILN_2003 GBV_ILN_2005 GBV_ILN_2006 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_2031 GBV_ILN_2038 GBV_ILN_2044 GBV_ILN_2048 GBV_ILN_2050 GBV_ILN_2055 GBV_ILN_2056 GBV_ILN_2057 GBV_ILN_2061 GBV_ILN_2111 GBV_ILN_2113 GBV_ILN_2190 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 8 2008 1 10 03
allfieldsGer	10.1186/1471-2407-8-71 doi (DE-627)SPR027613178 (SPR)1471-2407-8-71-e DE-627 ger DE-627 rakwb eng Kilpivaara, Outi verfasserin aut Comprehensive analysis of NuMAvariation in breast cancer 2008 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier © Kilpivaara et al; licensee BioMed Central Ltd. 2008 Background A recent genome wide case-control association study identified NuMA region on 11q13 as a candidate locus for breast cancer susceptibility. Specifically, the variant Ala794Gly was suggested to be associated with increased risk of breast cancer. Methods In order to evaluate the NuMa gene for breast cancer susceptibility, we have here screened the entire coding region and exon-intron boundaries of NuMa in 92 familial breast cancer patients and constructed haplotypes of the identified variants. Five missense variants were further screened in 341 breast cancer cases with a positive family history and 368 controls. We examined the frequency of Ala794Gly in an extensive series of familial (n = 910) and unselected (n = 884) breast cancer cases and controls (n = 906), with a high power to detect the suggested breast cancer risk. We also tested if the variant is associated with histopathologic features of breast tumors. Results Screening of NuMA resulted in identification of 11 exonic variants and 12 variants in introns or untranslated regions. Five missense variants that were further screened in breast cancer cases with a positive family history and controls, were each carried on a unique haplotype. None of the variants, or the haplotypes represented by them, was associated with breast cancer risk although due to low power in this analysis, very low risk alleles may go unrecognized. The NuMA Ala794Gly showed no difference in frequency in the unselected breast cancer case series or familial case series compared to control cases. Furthermore, Ala794Gly did not show any significant association with histopathologic characteristics of the tumors, though Ala794Gly was slightly more frequent among unselected cases with lymph node involvement. Conclusion Our results do not support the role of NuMA variants as breast cancer susceptibility alleles. Breast Cancer (dpeaa)DE-He213 Breast Cancer Risk (dpeaa)DE-He213 Acute Promyelocytic Leukemia (dpeaa)DE-He213 Breast Cancer Case (dpeaa)DE-He213 Breast Cancer Susceptibility (dpeaa)DE-He213 Rantanen, Matias aut Tamminen, Anitta aut Aittomäki, Kristiina aut Blomqvist, Carl aut Nevanlinna, Heli aut Enthalten in BMC cancer London : BioMed Central, 2001 8(2008), 1 vom: 10. März (DE-627)326643710 (DE-600)2041352-X 1471-2407 nnns volume:8 year:2008 number:1 day:10 month:03 https://dx.doi.org/10.1186/1471-2407-8-71 kostenfrei Volltext GBV_USEFLAG_A SYSFLAG_A GBV_SPRINGER SSG-OLC-PHA 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_702 GBV_ILN_2001 GBV_ILN_2003 GBV_ILN_2005 GBV_ILN_2006 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_2031 GBV_ILN_2038 GBV_ILN_2044 GBV_ILN_2048 GBV_ILN_2050 GBV_ILN_2055 GBV_ILN_2056 GBV_ILN_2057 GBV_ILN_2061 GBV_ILN_2111 GBV_ILN_2113 GBV_ILN_2190 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 8 2008 1 10 03
allfieldsSound	10.1186/1471-2407-8-71 doi (DE-627)SPR027613178 (SPR)1471-2407-8-71-e DE-627 ger DE-627 rakwb eng Kilpivaara, Outi verfasserin aut Comprehensive analysis of NuMAvariation in breast cancer 2008 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier © Kilpivaara et al; licensee BioMed Central Ltd. 2008 Background A recent genome wide case-control association study identified NuMA region on 11q13 as a candidate locus for breast cancer susceptibility. Specifically, the variant Ala794Gly was suggested to be associated with increased risk of breast cancer. Methods In order to evaluate the NuMa gene for breast cancer susceptibility, we have here screened the entire coding region and exon-intron boundaries of NuMa in 92 familial breast cancer patients and constructed haplotypes of the identified variants. Five missense variants were further screened in 341 breast cancer cases with a positive family history and 368 controls. We examined the frequency of Ala794Gly in an extensive series of familial (n = 910) and unselected (n = 884) breast cancer cases and controls (n = 906), with a high power to detect the suggested breast cancer risk. We also tested if the variant is associated with histopathologic features of breast tumors. Results Screening of NuMA resulted in identification of 11 exonic variants and 12 variants in introns or untranslated regions. Five missense variants that were further screened in breast cancer cases with a positive family history and controls, were each carried on a unique haplotype. None of the variants, or the haplotypes represented by them, was associated with breast cancer risk although due to low power in this analysis, very low risk alleles may go unrecognized. The NuMA Ala794Gly showed no difference in frequency in the unselected breast cancer case series or familial case series compared to control cases. Furthermore, Ala794Gly did not show any significant association with histopathologic characteristics of the tumors, though Ala794Gly was slightly more frequent among unselected cases with lymph node involvement. Conclusion Our results do not support the role of NuMA variants as breast cancer susceptibility alleles. Breast Cancer (dpeaa)DE-He213 Breast Cancer Risk (dpeaa)DE-He213 Acute Promyelocytic Leukemia (dpeaa)DE-He213 Breast Cancer Case (dpeaa)DE-He213 Breast Cancer Susceptibility (dpeaa)DE-He213 Rantanen, Matias aut Tamminen, Anitta aut Aittomäki, Kristiina aut Blomqvist, Carl aut Nevanlinna, Heli aut Enthalten in BMC cancer London : BioMed Central, 2001 8(2008), 1 vom: 10. März (DE-627)326643710 (DE-600)2041352-X 1471-2407 nnns volume:8 year:2008 number:1 day:10 month:03 https://dx.doi.org/10.1186/1471-2407-8-71 kostenfrei Volltext GBV_USEFLAG_A SYSFLAG_A GBV_SPRINGER SSG-OLC-PHA 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_702 GBV_ILN_2001 GBV_ILN_2003 GBV_ILN_2005 GBV_ILN_2006 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_2031 GBV_ILN_2038 GBV_ILN_2044 GBV_ILN_2048 GBV_ILN_2050 GBV_ILN_2055 GBV_ILN_2056 GBV_ILN_2057 GBV_ILN_2061 GBV_ILN_2111 GBV_ILN_2113 GBV_ILN_2190 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 8 2008 1 10 03
language	English
source	Enthalten in BMC cancer 8(2008), 1 vom: 10. März volume:8 year:2008 number:1 day:10 month:03
sourceStr	Enthalten in BMC cancer 8(2008), 1 vom: 10. März volume:8 year:2008 number:1 day:10 month:03
format_phy_str_mv	Article
institution	findex.gbv.de
topic_facet	Breast Cancer Breast Cancer Risk Acute Promyelocytic Leukemia Breast Cancer Case Breast Cancer Susceptibility
isfreeaccess_bool	true
container_title	BMC cancer
authorswithroles_txt_mv	Kilpivaara, Outi @@aut@@ Rantanen, Matias @@aut@@ Tamminen, Anitta @@aut@@ Aittomäki, Kristiina @@aut@@ Blomqvist, Carl @@aut@@ Nevanlinna, Heli @@aut@@
publishDateDaySort_date	2008-03-10T00:00:00Z
hierarchy_top_id	326643710
id	SPR027613178
language_de	englisch
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Five missense variants that were further screened in breast cancer cases with a positive family history and controls, were each carried on a unique haplotype. None of the variants, or the haplotypes represented by them, was associated with breast cancer risk although due to low power in this analysis, very low risk alleles may go unrecognized. The NuMA Ala794Gly showed no difference in frequency in the unselected breast cancer case series or familial case series compared to control cases. Furthermore, Ala794Gly did not show any significant association with histopathologic characteristics of the tumors, though Ala794Gly was slightly more frequent among unselected cases with lymph node involvement. 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author	Kilpivaara, Outi
spellingShingle	Kilpivaara, Outi misc Breast Cancer misc Breast Cancer Risk misc Acute Promyelocytic Leukemia misc Breast Cancer Case misc Breast Cancer Susceptibility Comprehensive analysis of NuMAvariation in breast cancer
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topic_title	Comprehensive analysis of NuMAvariation in breast cancer Breast Cancer (dpeaa)DE-He213 Breast Cancer Risk (dpeaa)DE-He213 Acute Promyelocytic Leukemia (dpeaa)DE-He213 Breast Cancer Case (dpeaa)DE-He213 Breast Cancer Susceptibility (dpeaa)DE-He213
topic	misc Breast Cancer misc Breast Cancer Risk misc Acute Promyelocytic Leukemia misc Breast Cancer Case misc Breast Cancer Susceptibility
topic_unstemmed	misc Breast Cancer misc Breast Cancer Risk misc Acute Promyelocytic Leukemia misc Breast Cancer Case misc Breast Cancer Susceptibility
topic_browse	misc Breast Cancer misc Breast Cancer Risk misc Acute Promyelocytic Leukemia misc Breast Cancer Case misc Breast Cancer Susceptibility
format_facet	Elektronische Aufsätze Aufsätze Elektronische Ressource
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title	Comprehensive analysis of NuMAvariation in breast cancer
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title_full	Comprehensive analysis of NuMAvariation in breast cancer
author_sort	Kilpivaara, Outi
journal	BMC cancer
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author_browse	Kilpivaara, Outi Rantanen, Matias Tamminen, Anitta Aittomäki, Kristiina Blomqvist, Carl Nevanlinna, Heli
container_volume	8
format_se	Elektronische Aufsätze
author-letter	Kilpivaara, Outi
doi_str_mv	10.1186/1471-2407-8-71
title_sort	comprehensive analysis of numavariation in breast cancer
title_auth	Comprehensive analysis of NuMAvariation in breast cancer
abstract	Background A recent genome wide case-control association study identified NuMA region on 11q13 as a candidate locus for breast cancer susceptibility. Specifically, the variant Ala794Gly was suggested to be associated with increased risk of breast cancer. Methods In order to evaluate the NuMa gene for breast cancer susceptibility, we have here screened the entire coding region and exon-intron boundaries of NuMa in 92 familial breast cancer patients and constructed haplotypes of the identified variants. Five missense variants were further screened in 341 breast cancer cases with a positive family history and 368 controls. We examined the frequency of Ala794Gly in an extensive series of familial (n = 910) and unselected (n = 884) breast cancer cases and controls (n = 906), with a high power to detect the suggested breast cancer risk. We also tested if the variant is associated with histopathologic features of breast tumors. Results Screening of NuMA resulted in identification of 11 exonic variants and 12 variants in introns or untranslated regions. Five missense variants that were further screened in breast cancer cases with a positive family history and controls, were each carried on a unique haplotype. None of the variants, or the haplotypes represented by them, was associated with breast cancer risk although due to low power in this analysis, very low risk alleles may go unrecognized. The NuMA Ala794Gly showed no difference in frequency in the unselected breast cancer case series or familial case series compared to control cases. Furthermore, Ala794Gly did not show any significant association with histopathologic characteristics of the tumors, though Ala794Gly was slightly more frequent among unselected cases with lymph node involvement. Conclusion Our results do not support the role of NuMA variants as breast cancer susceptibility alleles. © Kilpivaara et al; licensee BioMed Central Ltd. 2008
abstractGer	Background A recent genome wide case-control association study identified NuMA region on 11q13 as a candidate locus for breast cancer susceptibility. Specifically, the variant Ala794Gly was suggested to be associated with increased risk of breast cancer. Methods In order to evaluate the NuMa gene for breast cancer susceptibility, we have here screened the entire coding region and exon-intron boundaries of NuMa in 92 familial breast cancer patients and constructed haplotypes of the identified variants. Five missense variants were further screened in 341 breast cancer cases with a positive family history and 368 controls. We examined the frequency of Ala794Gly in an extensive series of familial (n = 910) and unselected (n = 884) breast cancer cases and controls (n = 906), with a high power to detect the suggested breast cancer risk. We also tested if the variant is associated with histopathologic features of breast tumors. Results Screening of NuMA resulted in identification of 11 exonic variants and 12 variants in introns or untranslated regions. Five missense variants that were further screened in breast cancer cases with a positive family history and controls, were each carried on a unique haplotype. None of the variants, or the haplotypes represented by them, was associated with breast cancer risk although due to low power in this analysis, very low risk alleles may go unrecognized. The NuMA Ala794Gly showed no difference in frequency in the unselected breast cancer case series or familial case series compared to control cases. Furthermore, Ala794Gly did not show any significant association with histopathologic characteristics of the tumors, though Ala794Gly was slightly more frequent among unselected cases with lymph node involvement. Conclusion Our results do not support the role of NuMA variants as breast cancer susceptibility alleles. © Kilpivaara et al; licensee BioMed Central Ltd. 2008
abstract_unstemmed	Background A recent genome wide case-control association study identified NuMA region on 11q13 as a candidate locus for breast cancer susceptibility. Specifically, the variant Ala794Gly was suggested to be associated with increased risk of breast cancer. Methods In order to evaluate the NuMa gene for breast cancer susceptibility, we have here screened the entire coding region and exon-intron boundaries of NuMa in 92 familial breast cancer patients and constructed haplotypes of the identified variants. Five missense variants were further screened in 341 breast cancer cases with a positive family history and 368 controls. We examined the frequency of Ala794Gly in an extensive series of familial (n = 910) and unselected (n = 884) breast cancer cases and controls (n = 906), with a high power to detect the suggested breast cancer risk. We also tested if the variant is associated with histopathologic features of breast tumors. Results Screening of NuMA resulted in identification of 11 exonic variants and 12 variants in introns or untranslated regions. Five missense variants that were further screened in breast cancer cases with a positive family history and controls, were each carried on a unique haplotype. None of the variants, or the haplotypes represented by them, was associated with breast cancer risk although due to low power in this analysis, very low risk alleles may go unrecognized. The NuMA Ala794Gly showed no difference in frequency in the unselected breast cancer case series or familial case series compared to control cases. Furthermore, Ala794Gly did not show any significant association with histopathologic characteristics of the tumors, though Ala794Gly was slightly more frequent among unselected cases with lymph node involvement. Conclusion Our results do not support the role of NuMA variants as breast cancer susceptibility alleles. © Kilpivaara et al; licensee BioMed Central Ltd. 2008
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title_short	Comprehensive analysis of NuMAvariation in breast cancer
url	https://dx.doi.org/10.1186/1471-2407-8-71
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author2	Rantanen, Matias Tamminen, Anitta Aittomäki, Kristiina Blomqvist, Carl Nevanlinna, Heli
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