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3. The ATM missense mutation Ser49Cys and risk of breast cancer

Author

Stredrick, Denise L., Garcia-Closas, Montserrat, Pineda, Marbin A., Bhatti, Parveen, Alexander, Bruce H., Doody, Michele M., Lissowska, Jolanta, Peplonska, Beata, Brinton, Louise A., Chanock, Stephen J., Struewing, Jeffery P., and Sigurdson, Alice J.

Subjects
Adult, Tumor Suppressor Proteins, Mutation, Missense, Breast Neoplasms, Cell Cycle Proteins, Ataxia Telangiectasia Mutated Proteins, Middle Aged, Protein Serine-Threonine Kinases, Article, United States, DNA-Binding Proteins, Risk Factors, Case-Control Studies, Humans, Female, Genetic Predisposition to Disease, Poland, Alleles, Aged
Abstract

Homozygous mutation in the ATM gene causes ataxia telangiectasia and heterozygous mutation carriers may be at increased risk of breast cancer. We studied a total of 22 ATM variants; 18 variants were analyzed in one of two large population-based studies from the U.S. and Poland, and four variants were analyzed in all 2,856 breast cancer cases and 3,344 controls from the two studies. The missense mutation Ser49Cys (c.146CG, p.S49C), carried by approximately 2% of subjects, was more common in cases than controls in both study populations, combined odds ratio (OR) 1.69 (95% CI, 1.19-2.40; P=0.004). Another missense mutation at approximately 2% frequency, Phe858Leu (c.2572TC, p.F858L), was associated with a significant increased risk in the U.S. study but not in Poland, and had a combined OR of 1.44 (95% CI, 0.98-2.11; P=0.06). These analyses provide the most convincing evidence thus far that missense mutations in ATM, particularly p.S49C, may be breast cancer susceptibility alleles. Because of their low frequency, even larger sample sizes are required to more firmly establish these associations.

Published
2006

4. A common coding variant in CASP8 is associated with breast cancer risk

Author

Cox, Angela, Dunning, Alison M., Garcia-Closas, Montserrat, Balasubramanian, Sabapathy, Reed, Malcolm W. R., Pooley, Karen A., Scollen, Serena, Baynes, Caroline, Ponder, Bruce A. J., Chanock, Stephen, Lissowska, Jolanta, Brinton, Louise, Peplonska, Beata, Southey, Melissa C., Hopper, John L., McCredie, Margaret R. E., Giles, Graham G., Fletcher, Olivia, Johnson, Nichola, dos Santos Silva, Isabel, Gibson, Lorna, Bojesen, Stig E., Nordestgaard, Børge G., Axelsson, Christen K., Torres, Diana, Hamann, Ute, Justenhoven, Christina, Brauch, Hiltrud, Chang-Claude, Jenny, Kropp, Silke, Risch, Angela, Wang-Gohrke, Shan, Schürmann, Peter, Bogdanova, Natalia, Dörk, Thilo, Fagerholm, Rainer, Aaltonen, Kirsimari, Blomqvist, Carl, Nevanlinna, Heli, Seal, Sheila, Renwick, Anthony, Stratton, Michael R., Rahman, Nazneen, Sangrajrang, Suleeporn, Hughes, David, Odefrey, Fabrice, Brennan, Paul, Spurdle, Amanda B., Chenevix-Trench, Georgia, Beesley, Jonathan, Mannermaa, Arto, Hartikainen, Jaana, Kataja, Vesa, Kosma, Veli-Matti, Couch, Fergus J., Olson, Janet E., Goode, Ellen L., Broeks, Annegien, Schmidt, Marjanka K., Hogervorst, Frans B. L., Van't Veer, Laura J., Kang, Daehee, Yoo, Keun-Young, Noh, Dong-Young, Ahn, Sei-Hyun, Wedrén, Sara, Hall, Per, Low, Yen-Ling, Liu, Jianjun, Milne, Roger L, Ribas, Gloria, Gonzalez-Neira, Anna, Benitez, Javier, Sigurdson, Alice J., Stredrick, Denise L., Alexander, Bruce H., Struewing, Jeffery P., Pharoah, Paul D. P., Easton, Douglas F., Cox, Angela, Dunning, Alison M., Garcia-Closas, Montserrat, Balasubramanian, Sabapathy, Reed, Malcolm W. R., Pooley, Karen A., Scollen, Serena, Baynes, Caroline, Ponder, Bruce A. J., Chanock, Stephen, Lissowska, Jolanta, Brinton, Louise, Peplonska, Beata, Southey, Melissa C., Hopper, John L., McCredie, Margaret R. E., Giles, Graham G., Fletcher, Olivia, Johnson, Nichola, dos Santos Silva, Isabel, Gibson, Lorna, Bojesen, Stig E., Nordestgaard, Børge G., Axelsson, Christen K., Torres, Diana, Hamann, Ute, Justenhoven, Christina, Brauch, Hiltrud, Chang-Claude, Jenny, Kropp, Silke, Risch, Angela, Wang-Gohrke, Shan, Schürmann, Peter, Bogdanova, Natalia, Dörk, Thilo, Fagerholm, Rainer, Aaltonen, Kirsimari, Blomqvist, Carl, Nevanlinna, Heli, Seal, Sheila, Renwick, Anthony, Stratton, Michael R., Rahman, Nazneen, Sangrajrang, Suleeporn, Hughes, David, Odefrey, Fabrice, Brennan, Paul, Spurdle, Amanda B., Chenevix-Trench, Georgia, Beesley, Jonathan, Mannermaa, Arto, Hartikainen, Jaana, Kataja, Vesa, Kosma, Veli-Matti, Couch, Fergus J., Olson, Janet E., Goode, Ellen L., Broeks, Annegien, Schmidt, Marjanka K., Hogervorst, Frans B. L., Van't Veer, Laura J., Kang, Daehee, Yoo, Keun-Young, Noh, Dong-Young, Ahn, Sei-Hyun, Wedrén, Sara, Hall, Per, Low, Yen-Ling, Liu, Jianjun, Milne, Roger L, Ribas, Gloria, Gonzalez-Neira, Anna, Benitez, Javier, Sigurdson, Alice J., Stredrick, Denise L., Alexander, Bruce H., Struewing, Jeffery P., Pharoah, Paul D. P., and Easton, Douglas F.

Abstract

The Breast Cancer Association Consortium (BCAC) has been established to conduct combined case-control analyses with augmented statistical power to try to confirm putative genetic associations with breast cancer. We genotyped nine SNPs for which there was some prior evidence of an association with breast cancer: CASP8 D302H (rs1045485), IGFBP3 -202 C --> A (rs2854744), SOD2 V16A (rs1799725), TGFB1 L10P (rs1982073), ATM S49C (rs1800054), ADH1B 3' UTR A --> G (rs1042026), CDKN1A S31R (rs1801270), ICAM5 V301I (rs1056538) and NUMA1 A794G (rs3750913). We included data from 9-15 studies, comprising 11,391-18,290 cases and 14,753-22,670 controls. We found evidence of an association with breast cancer for CASP8 D302H (with odds ratios (OR) of 0.89 (95% confidence interval (c.i.): 0.85-0.94) and 0.74 (95% c.i.: 0.62-0.87) for heterozygotes and rare homozygotes, respectively, compared with common homozygotes; P(trend) = 1.1 x 10(-7)) and weaker evidence for TGFB1 L10P (OR = 1.07 (95% c.i.: 1.02-1.13) and 1.16 (95% c.i.: 1.08-1.25), respectively; P(trend) = 2.8 x 10(-5)). These results demonstrate that common breast cancer susceptibility alleles with small effects on risk can be identified, given sufficiently powerful studies.

Published
2007
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5. TheATMmissense mutation p.Ser49Cys (c.146C>G) and the risk of breast cancer

Author

Stredrick, Denise L., primary, Garcia-Closas, Montserrat, additional, Pineda, Marbin A., additional, Bhatti, Parveen, additional, Alexander, Bruce H., additional, Doody, Michele M., additional, Lissowska, Jolanta, additional, Peplonska, Beata, additional, Brinton, Louise A., additional, Chanock, Stephen J., additional, Struewing, Jeffery P., additional, and Sigurdson, Alice J., additional

Published
2006
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6. A common coding variant in CASP8 is associated with breast cancer risk

Author

Pontificia Universidad Javeriana. Facultad de Medicina. Instituto de Genética Humana, Cox, Angela, Dunning, Alison M., Garcia-Closas, Montserrat, Balasubramanian, Sabapathy, Reed, Malcolm W. R., Pooley, Karen A., Scollen, Serena, Baynes, Caroline, Ponder, Bruce A. J., Chanock, Stephen, Lissowska, Jolanta, Brinton, Louise, Peplonska, Beata, Southey, Melissa C., Hopper, John L., McCredie, Margaret R. E., Giles, Graham G., Fletcher, Olivia, Johnson, Nichola, dos Santos Silva, Isabel, Gibson, Lorna, Bojesen, Stig E., Nordestgaard, Børge G., Axelsson, Christen K., Torres, Diana, Hamann, Ute, Justenhoven, Christina, Brauch, Hiltrud, Chang-Claude, Jenny, Kropp, Silke, Risch, Angela, Wang-Gohrke, Shan, Schürmann, Peter, Bogdanova, Natalia, Dörk, Thilo, Fagerholm, Rainer, Aaltonen, Kirsimari, Blomqvist, Carl, Nevanlinna, Heli, Seal, Sheila, Renwick, Anthony, Stratton, Michael R., Rahman, Nazneen, Sangrajrang, Suleeporn, Hughes, David, Odefrey, Fabrice, Brennan, Paul, Spurdle, Amanda B., Chenevix-Trench, Georgia, The Kathleen Cunningham Foundation Consortium for Research into Familial Breast Cancer, Beesley, Jonathan, Mannermaa, Arto, Hartikainen, Jaana, Kataja, Vesa, Kosma, Veli-Matti, Couch, Fergus J., Olson, Janet E., Goode, Ellen L., Broeks, Annegien, Schmidt, Marjanka K., Hogervorst, Frans B. L., Veer, Laura J. Van't, Kang, Daehee, Yoo, Keun-Young, Noh, Dong-Young, Ahn, Sei-Hyun, Wedrén, Sara, Hall, Per, Low, Yen-Ling, Liu, Jianjun, Milne, Roger L., Ribas, Gloria, Gonzalez-Neira, Anna, Benitez, Javier, Sigurdson, Alice J., Stredrick, Denise L., Alexander, Bruce H., Struewing, Jeffery P., Pharoah, Paul D. P., Easton, Douglas F., Breast Cancer Association Consortium, Pontificia Universidad Javeriana. Facultad de Medicina. Instituto de Genética Humana, Cox, Angela, Dunning, Alison M., Garcia-Closas, Montserrat, Balasubramanian, Sabapathy, Reed, Malcolm W. R., Pooley, Karen A., Scollen, Serena, Baynes, Caroline, Ponder, Bruce A. J., Chanock, Stephen, Lissowska, Jolanta, Brinton, Louise, Peplonska, Beata, Southey, Melissa C., Hopper, John L., McCredie, Margaret R. E., Giles, Graham G., Fletcher, Olivia, Johnson, Nichola, dos Santos Silva, Isabel, Gibson, Lorna, Bojesen, Stig E., Nordestgaard, Børge G., Axelsson, Christen K., Torres, Diana, Hamann, Ute, Justenhoven, Christina, Brauch, Hiltrud, Chang-Claude, Jenny, Kropp, Silke, Risch, Angela, Wang-Gohrke, Shan, Schürmann, Peter, Bogdanova, Natalia, Dörk, Thilo, Fagerholm, Rainer, Aaltonen, Kirsimari, Blomqvist, Carl, Nevanlinna, Heli, Seal, Sheila, Renwick, Anthony, Stratton, Michael R., Rahman, Nazneen, Sangrajrang, Suleeporn, Hughes, David, Odefrey, Fabrice, Brennan, Paul, Spurdle, Amanda B., Chenevix-Trench, Georgia, The Kathleen Cunningham Foundation Consortium for Research into Familial Breast Cancer, Beesley, Jonathan, Mannermaa, Arto, Hartikainen, Jaana, Kataja, Vesa, Kosma, Veli-Matti, Couch, Fergus J., Olson, Janet E., Goode, Ellen L., Broeks, Annegien, Schmidt, Marjanka K., Hogervorst, Frans B. L., Veer, Laura J. Van't, Kang, Daehee, Yoo, Keun-Young, Noh, Dong-Young, Ahn, Sei-Hyun, Wedrén, Sara, Hall, Per, Low, Yen-Ling, Liu, Jianjun, Milne, Roger L., Ribas, Gloria, Gonzalez-Neira, Anna, Benitez, Javier, Sigurdson, Alice J., Stredrick, Denise L., Alexander, Bruce H., Struewing, Jeffery P., Pharoah, Paul D. P., Easton, Douglas F., and Breast Cancer Association Consortium

7. A common coding variant in CASP8 is associated with breast cancer risk.

Author

Cox A, Dunning AM, Garcia-Closas M, Balasubramanian S, Reed MW, Pooley KA, Scollen S, Baynes C, Ponder BA, Chanock S, Lissowska J, Brinton L, Peplonska B, Southey MC, Hopper JL, McCredie MR, Giles GG, Fletcher O, Johnson N, dos Santos Silva I, Gibson L, Bojesen SE, Nordestgaard BG, Axelsson CK, Torres D, Hamann U, Justenhoven C, Brauch H, Chang-Claude J, Kropp S, Risch A, Wang-Gohrke S, Schürmann P, Bogdanova N, Dörk T, Fagerholm R, Aaltonen K, Blomqvist C, Nevanlinna H, Seal S, Renwick A, Stratton MR, Rahman N, Sangrajrang S, Hughes D, Odefrey F, Brennan P, Spurdle AB, Chenevix-Trench G, Beesley J, Mannermaa A, Hartikainen J, Kataja V, Kosma VM, Couch FJ, Olson JE, Goode EL, Broeks A, Schmidt MK, Hogervorst FB, Van't Veer LJ, Kang D, Yoo KY, Noh DY, Ahn SH, Wedrén S, Hall P, Low YL, Liu J, Milne RL, Ribas G, Gonzalez-Neira A, Benitez J, Sigurdson AJ, Stredrick DL, Alexander BH, Struewing JP, Pharoah PD, and Easton DF

Subjects
Adult, Aged, Case-Control Studies, Cohort Studies, Female, Genetic Variation, Genotype, Humans, Middle Aged, Polymorphism, Single Nucleotide, Risk Factors, Breast Neoplasms genetics, Caspase 8 genetics, Genetic Predisposition to Disease
Abstract

The Breast Cancer Association Consortium (BCAC) has been established to conduct combined case-control analyses with augmented statistical power to try to confirm putative genetic associations with breast cancer. We genotyped nine SNPs for which there was some prior evidence of an association with breast cancer: CASP8 D302H (rs1045485), IGFBP3 -202 C --> A (rs2854744), SOD2 V16A (rs1799725), TGFB1 L10P (rs1982073), ATM S49C (rs1800054), ADH1B 3' UTR A --> G (rs1042026), CDKN1A S31R (rs1801270), ICAM5 V301I (rs1056538) and NUMA1 A794G (rs3750913). We included data from 9-15 studies, comprising 11,391-18,290 cases and 14,753-22,670 controls. We found evidence of an association with breast cancer for CASP8 D302H (with odds ratios (OR) of 0.89 (95% confidence interval (c.i.): 0.85-0.94) and 0.74 (95% c.i.: 0.62-0.87) for heterozygotes and rare homozygotes, respectively, compared with common homozygotes; P(trend) = 1.1 x 10(-7)) and weaker evidence for TGFB1 L10P (OR = 1.07 (95% c.i.: 1.02-1.13) and 1.16 (95% c.i.: 1.08-1.25), respectively; P(trend) = 2.8 x 10(-5)). These results demonstrate that common breast cancer susceptibility alleles with small effects on risk can be identified, given sufficiently powerful studies.

Published
2007
Full Text
View/download PDF

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