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1. Analysis of Heritability and Shared Heritability Based on Genome-Wide Association Studies for 13 Cancer Types

Author

Sampson, Joshua N, Wheeler, William A, Yeager, Meredith, Panagiotou, Orestis, Wang, Zhaoming, Berndt, Sonja I, Lan, Qing, Abnet, Christian C, Amundadottir, Laufey T, Figueroa, Jonine D, Landi, Maria Teresa, Mirabello, Lisa, Savage, Sharon A, Taylor, Philip R, De Vivo, Immaculata, McGlynn, Katherine A, Purdue, Mark P, Rajaraman, Preetha, Adami, Hans-Olov, Ahlbom, Anders, Albanes, Demetrius, Amary, Maria Fernanda, An, She-Juan, Andersson, Ulrika, Andriole, Gerald, Andrulis, Irene L, Angelucci, Emanuele, Ansell, Stephen M, Arici, Cecilia, Armstrong, Bruce K, Arslan, Alan A, Austin, Melissa A, Baris, Dalsu, Barkauskas, Donald A, Bassig, Bryan A, Becker, Nikolaus, Benavente, Yolanda, Benhamou, Simone, Berg, Christine, Van Den Berg, David, Bernstein, Leslie, Bertrand, Kimberly A, Birmann, Brenda M, Black, Amanda, Boeing, Heiner, Boffetta, Paolo, Boutron-Ruault, Marie-Christine, Bracci, Paige M, Brinton, Louise, Brooks-Wilson, Angela R, Bueno-de-Mesquita, H Bas, Burdett, Laurie, Buring, Julie, Butler, Mary Ann, Cai, Qiuyin, Cancel-Tassin, Geraldine, Canzian, Federico, Carrato, Alfredo, Carreon, Tania, Carta, Angela, Chan, John KC, Chang, Ellen T, Chang, Gee-Chen, Chang, I-Shou, Chang, Jiang, Chang-Claude, Jenny, Chen, Chien-Jen, Chen, Chih-Yi, Chen, Chu, Chen, Chung-Hsing, Chen, Constance, Chen, Hongyan, Chen, Kexin, Chen, Kuan-Yu, Chen, Kun-Chieh, Chen, Ying, Chen, Ying-Hsiang, Chen, Yi-Song, Chen, Yuh-Min, Chien, Li-Hsin, Chirlaque, María-Dolores, Choi, Jin Eun, Choi, Yi Young, Chow, Wong-Ho, Chung, Charles C, Clavel, Jacqueline, Clavel-Chapelon, Françoise, Cocco, Pierluigi, Colt, Joanne S, Comperat, Eva, Conde, Lucia, Connors, Joseph M, Conti, David, Cortessis, Victoria K, Cotterchio, Michelle, Cozen, Wendy, Crouch, Simon, Crous-Bou, Marta, Cussenot, Olivier, and Davis, Faith G

Subjects
Tobacco, Clinical Research, Urologic Diseases, Lung, Genetics, Rare Diseases, Lung Cancer, Human Genome, Hematology, Cancer, Tobacco Smoke and Health, Prevention, Lymphoma, Adult, Aged, Asian People, Bone Neoplasms, Female, Genetic Predisposition to Disease, Genome-Wide Association Study, Humans, Kidney Neoplasms, Leukemia, Lymphocytic, Chronic, B-Cell, Lung Neoplasms, Lymphoma, Large B-Cell, Diffuse, Male, Middle Aged, Neoplasms, Osteosarcoma, Polymorphism, Single Nucleotide, Smoking, Testicular Neoplasms, Tissue Array Analysis, Urinary Bladder Neoplasms, White People, Oncology and Carcinogenesis, Oncology & Carcinogenesis
Abstract

BackgroundStudies of related individuals have consistently demonstrated notable familial aggregation of cancer. We aim to estimate the heritability and genetic correlation attributable to the additive effects of common single-nucleotide polymorphisms (SNPs) for cancer at 13 anatomical sites.MethodsBetween 2007 and 2014, the US National Cancer Institute has generated data from genome-wide association studies (GWAS) for 49 492 cancer case patients and 34 131 control patients. We apply novel mixed model methodology (GCTA) to this GWAS data to estimate the heritability of individual cancers, as well as the proportion of heritability attributable to cigarette smoking in smoking-related cancers, and the genetic correlation between pairs of cancers.ResultsGWAS heritability was statistically significant at nearly all sites, with the estimates of array-based heritability, hl (2), on the liability threshold (LT) scale ranging from 0.05 to 0.38. Estimating the combined heritability of multiple smoking characteristics, we calculate that at least 24% (95% confidence interval [CI] = 14% to 37%) and 7% (95% CI = 4% to 11%) of the heritability for lung and bladder cancer, respectively, can be attributed to genetic determinants of smoking. Most pairs of cancers studied did not show evidence of strong genetic correlation. We found only four pairs of cancers with marginally statistically significant correlations, specifically kidney and testes (ρ = 0.73, SE = 0.28), diffuse large B-cell lymphoma (DLBCL) and pediatric osteosarcoma (ρ = 0.53, SE = 0.21), DLBCL and chronic lymphocytic leukemia (CLL) (ρ = 0.51, SE =0.18), and bladder and lung (ρ = 0.35, SE = 0.14). Correlation analysis also indicates that the genetic architecture of lung cancer differs between a smoking population of European ancestry and a nonsmoking Asian population, allowing for the possibility that the genetic etiology for the same disease can vary by population and environmental exposures.ConclusionOur results provide important insights into the genetic architecture of cancers and suggest new avenues for investigation.

Published
2015

2. Analysis of Heritability and Shared Heritability Based on Genome-Wide Association Studies for Thirteen Cancer Types.

Author

Sampson, Joshua N, Wheeler, William A, Yeager, Meredith, Panagiotou, Orestis, Wang, Zhaoming, Berndt, Sonja I, Lan, Qing, Abnet, Christian C, Amundadottir, Laufey T, Figueroa, Jonine D, Landi, Maria Teresa, Mirabello, Lisa, Savage, Sharon A, Taylor, Philip R, De Vivo, Immaculata, McGlynn, Katherine A, Purdue, Mark P, Rajaraman, Preetha, Adami, Hans-Olov, Ahlbom, Anders, Albanes, Demetrius, Amary, Maria Fernanda, An, She-Juan, Andersson, Ulrika, Andriole, Gerald, Andrulis, Irene L, Angelucci, Emanuele, Ansell, Stephen M, Arici, Cecilia, Armstrong, Bruce K, Arslan, Alan A, Austin, Melissa A, Baris, Dalsu, Barkauskas, Donald A, Bassig, Bryan A, Becker, Nikolaus, Benavente, Yolanda, Benhamou, Simone, Berg, Christine, Van Den Berg, David, Bernstein, Leslie, Bertrand, Kimberly A, Birmann, Brenda M, Black, Amanda, Boeing, Heiner, Boffetta, Paolo, Boutron-Ruault, Marie-Christine, Bracci, Paige M, Brinton, Louise, Brooks-Wilson, Angela R, Bueno-de-Mesquita, H Bas, Burdett, Laurie, Buring, Julie, Butler, Mary Ann, Cai, Qiuyin, Cancel-Tassin, Geraldine, Canzian, Federico, Carrato, Alfredo, Carreon, Tania, Carta, Angela, Chan, John KC, Chang, Ellen T, Chang, Gee-Chen, Chang, I-Shou, Chang, Jiang, Chang-Claude, Jenny, Chen, Chien-Jen, Chen, Chih-Yi, Chen, Chu, Chen, Chung-Hsing, Chen, Constance, Chen, Hongyan, Chen, Kexin, Chen, Kuan-Yu, Chen, Kun-Chieh, Chen, Ying, Chen, Ying-Hsiang, Chen, Yi-Song, Chen, Yuh-Min, Chien, Li-Hsin, Chirlaque, María-Dolores, Choi, Jin Eun, Choi, Yi Young, Chow, Wong-Ho, Chung, Charles C, Clavel, Jacqueline, Clavel-Chapelon, Françoise, Cocco, Pierluigi, Colt, Joanne S, Comperat, Eva, Conde, Lucia, Connors, Joseph M, Conti, David, Cortessis, Victoria K, Cotterchio, Michelle, Cozen, Wendy, Crouch, Simon, Crous-Bou, Marta, Cussenot, Olivier, and Davis, Faith G

Subjects
Humans, Neoplasms, Osteosarcoma, Bone Neoplasms, Testicular Neoplasms, Lung Neoplasms, Kidney Neoplasms, Genetic Predisposition to Disease, Tissue Array Analysis, Smoking, Polymorphism, Single Nucleotide, Adult, Aged, Middle Aged, Asian Continental Ancestry Group, European Continental Ancestry Group, Female, Male, Urinary Bladder Neoplasms, Leukemia, Lymphocytic, Chronic, B-Cell, Lymphoma, Large B-Cell, Diffuse, Genome-Wide Association Study, Polymorphism, Single Nucleotide, Leukemia, Lymphocytic, Chronic, B-Cell, Lymphoma, Large B-Cell, Diffuse, Oncology And Carcinogenesis, Oncology & Carcinogenesis, Oncology and Carcinogenesis
Abstract

BackgroundStudies of related individuals have consistently demonstrated notable familial aggregation of cancer. We aim to estimate the heritability and genetic correlation attributable to the additive effects of common single-nucleotide polymorphisms (SNPs) for cancer at 13 anatomical sites.MethodsBetween 2007 and 2014, the US National Cancer Institute has generated data from genome-wide association studies (GWAS) for 49 492 cancer case patients and 34 131 control patients. We apply novel mixed model methodology (GCTA) to this GWAS data to estimate the heritability of individual cancers, as well as the proportion of heritability attributable to cigarette smoking in smoking-related cancers, and the genetic correlation between pairs of cancers.ResultsGWAS heritability was statistically significant at nearly all sites, with the estimates of array-based heritability, hl (2), on the liability threshold (LT) scale ranging from 0.05 to 0.38. Estimating the combined heritability of multiple smoking characteristics, we calculate that at least 24% (95% confidence interval [CI] = 14% to 37%) and 7% (95% CI = 4% to 11%) of the heritability for lung and bladder cancer, respectively, can be attributed to genetic determinants of smoking. Most pairs of cancers studied did not show evidence of strong genetic correlation. We found only four pairs of cancers with marginally statistically significant correlations, specifically kidney and testes (ρ = 0.73, SE = 0.28), diffuse large B-cell lymphoma (DLBCL) and pediatric osteosarcoma (ρ = 0.53, SE = 0.21), DLBCL and chronic lymphocytic leukemia (CLL) (ρ = 0.51, SE =0.18), and bladder and lung (ρ = 0.35, SE = 0.14). Correlation analysis also indicates that the genetic architecture of lung cancer differs between a smoking population of European ancestry and a nonsmoking Asian population, allowing for the possibility that the genetic etiology for the same disease can vary by population and environmental exposures.ConclusionOur results provide important insights into the genetic architecture of cancers and suggest new avenues for investigation.

Published
2015

3. Data from A Genome-Wide Scan Identifies Variants in NFIB Associated with Metastasis in Patients with Osteosarcoma

Author

Mirabello, Lisa, primary, Koster, Roelof, primary, Moriarity, Branden S., primary, Spector, Logan G., primary, Meltzer, Paul S., primary, Gary, Joy, primary, Machiela, Mitchell J., primary, Pankratz, Nathan, primary, Panagiotou, Orestis A., primary, Largaespada, David, primary, Wang, Zhaoming, primary, Gastier-Foster, Julie M., primary, Gorlick, Richard, primary, Khanna, Chand, primary, de Toledo, Silvia Regina Caminada, primary, Petrilli, Antonio S., primary, Patiño-Garcia, Ana, primary, Sierrasesúmaga, Luis, primary, Lecanda, Fernando, primary, Andrulis, Irene L., primary, Wunder, Jay S., primary, Gokgoz, Nalan, primary, Serra, Massimo, primary, Hattinger, Claudia, primary, Picci, Piero, primary, Scotlandi, Katia, primary, Flanagan, Adrienne M., primary, Tirabosco, Roberto, primary, Amary, Maria Fernanda, primary, Halai, Dina, primary, Ballinger, Mandy L., primary, Thomas, David M., primary, Davis, Sean, primary, Barkauskas, Donald A., primary, Marina, Neyssa, primary, Helman, Lee, primary, Otto, George M., primary, Becklin, Kelsie L., primary, Wolf, Natalie K., primary, Weg, Madison T., primary, Tucker, Margaret, primary, Wacholder, Sholom, primary, Fraumeni, Joseph F., primary, Caporaso, Neil E., primary, Boland, Joseph F., primary, Hicks, Belynda D., primary, Vogt, Aurelie, primary, Burdett, Laurie, primary, Yeager, Meredith, primary, Hoover, Robert N., primary, Chanock, Stephen J., primary, and Savage, Sharon A., primary

Published
2023
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4. Supplementary Table 3 from A Genome-Wide Scan Identifies Variants in NFIB Associated with Metastasis in Patients with Osteosarcoma

Author

Mirabello, Lisa, primary, Koster, Roelof, primary, Moriarity, Branden S., primary, Spector, Logan G., primary, Meltzer, Paul S., primary, Gary, Joy, primary, Machiela, Mitchell J., primary, Pankratz, Nathan, primary, Panagiotou, Orestis A., primary, Largaespada, David, primary, Wang, Zhaoming, primary, Gastier-Foster, Julie M., primary, Gorlick, Richard, primary, Khanna, Chand, primary, de Toledo, Silvia Regina Caminada, primary, Petrilli, Antonio S., primary, Patiño-Garcia, Ana, primary, Sierrasesúmaga, Luis, primary, Lecanda, Fernando, primary, Andrulis, Irene L., primary, Wunder, Jay S., primary, Gokgoz, Nalan, primary, Serra, Massimo, primary, Hattinger, Claudia, primary, Picci, Piero, primary, Scotlandi, Katia, primary, Flanagan, Adrienne M., primary, Tirabosco, Roberto, primary, Amary, Maria Fernanda, primary, Halai, Dina, primary, Ballinger, Mandy L., primary, Thomas, David M., primary, Davis, Sean, primary, Barkauskas, Donald A., primary, Marina, Neyssa, primary, Helman, Lee, primary, Otto, George M., primary, Becklin, Kelsie L., primary, Wolf, Natalie K., primary, Weg, Madison T., primary, Tucker, Margaret, primary, Wacholder, Sholom, primary, Fraumeni, Joseph F., primary, Caporaso, Neil E., primary, Boland, Joseph F., primary, Hicks, Belynda D., primary, Vogt, Aurelie, primary, Burdett, Laurie, primary, Yeager, Meredith, primary, Hoover, Robert N., primary, Chanock, Stephen J., primary, and Savage, Sharon A., primary

Published
2023
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5. Supplementary Table 1 from A Genome-Wide Scan Identifies Variants in NFIB Associated with Metastasis in Patients with Osteosarcoma

Author

Mirabello, Lisa, primary, Koster, Roelof, primary, Moriarity, Branden S., primary, Spector, Logan G., primary, Meltzer, Paul S., primary, Gary, Joy, primary, Machiela, Mitchell J., primary, Pankratz, Nathan, primary, Panagiotou, Orestis A., primary, Largaespada, David, primary, Wang, Zhaoming, primary, Gastier-Foster, Julie M., primary, Gorlick, Richard, primary, Khanna, Chand, primary, de Toledo, Silvia Regina Caminada, primary, Petrilli, Antonio S., primary, Patiño-Garcia, Ana, primary, Sierrasesúmaga, Luis, primary, Lecanda, Fernando, primary, Andrulis, Irene L., primary, Wunder, Jay S., primary, Gokgoz, Nalan, primary, Serra, Massimo, primary, Hattinger, Claudia, primary, Picci, Piero, primary, Scotlandi, Katia, primary, Flanagan, Adrienne M., primary, Tirabosco, Roberto, primary, Amary, Maria Fernanda, primary, Halai, Dina, primary, Ballinger, Mandy L., primary, Thomas, David M., primary, Davis, Sean, primary, Barkauskas, Donald A., primary, Marina, Neyssa, primary, Helman, Lee, primary, Otto, George M., primary, Becklin, Kelsie L., primary, Wolf, Natalie K., primary, Weg, Madison T., primary, Tucker, Margaret, primary, Wacholder, Sholom, primary, Fraumeni, Joseph F., primary, Caporaso, Neil E., primary, Boland, Joseph F., primary, Hicks, Belynda D., primary, Vogt, Aurelie, primary, Burdett, Laurie, primary, Yeager, Meredith, primary, Hoover, Robert N., primary, Chanock, Stephen J., primary, and Savage, Sharon A., primary

Published
2023
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6. Supplementary Table 6 from A Genome-Wide Scan Identifies Variants in NFIB Associated with Metastasis in Patients with Osteosarcoma

Author

Mirabello, Lisa, primary, Koster, Roelof, primary, Moriarity, Branden S., primary, Spector, Logan G., primary, Meltzer, Paul S., primary, Gary, Joy, primary, Machiela, Mitchell J., primary, Pankratz, Nathan, primary, Panagiotou, Orestis A., primary, Largaespada, David, primary, Wang, Zhaoming, primary, Gastier-Foster, Julie M., primary, Gorlick, Richard, primary, Khanna, Chand, primary, de Toledo, Silvia Regina Caminada, primary, Petrilli, Antonio S., primary, Patiño-Garcia, Ana, primary, Sierrasesúmaga, Luis, primary, Lecanda, Fernando, primary, Andrulis, Irene L., primary, Wunder, Jay S., primary, Gokgoz, Nalan, primary, Serra, Massimo, primary, Hattinger, Claudia, primary, Picci, Piero, primary, Scotlandi, Katia, primary, Flanagan, Adrienne M., primary, Tirabosco, Roberto, primary, Amary, Maria Fernanda, primary, Halai, Dina, primary, Ballinger, Mandy L., primary, Thomas, David M., primary, Davis, Sean, primary, Barkauskas, Donald A., primary, Marina, Neyssa, primary, Helman, Lee, primary, Otto, George M., primary, Becklin, Kelsie L., primary, Wolf, Natalie K., primary, Weg, Madison T., primary, Tucker, Margaret, primary, Wacholder, Sholom, primary, Fraumeni, Joseph F., primary, Caporaso, Neil E., primary, Boland, Joseph F., primary, Hicks, Belynda D., primary, Vogt, Aurelie, primary, Burdett, Laurie, primary, Yeager, Meredith, primary, Hoover, Robert N., primary, Chanock, Stephen J., primary, and Savage, Sharon A., primary

Published
2023
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7. Supplementary Table 5 from A Genome-Wide Scan Identifies Variants in NFIB Associated with Metastasis in Patients with Osteosarcoma

Author

Mirabello, Lisa, primary, Koster, Roelof, primary, Moriarity, Branden S., primary, Spector, Logan G., primary, Meltzer, Paul S., primary, Gary, Joy, primary, Machiela, Mitchell J., primary, Pankratz, Nathan, primary, Panagiotou, Orestis A., primary, Largaespada, David, primary, Wang, Zhaoming, primary, Gastier-Foster, Julie M., primary, Gorlick, Richard, primary, Khanna, Chand, primary, de Toledo, Silvia Regina Caminada, primary, Petrilli, Antonio S., primary, Patiño-Garcia, Ana, primary, Sierrasesúmaga, Luis, primary, Lecanda, Fernando, primary, Andrulis, Irene L., primary, Wunder, Jay S., primary, Gokgoz, Nalan, primary, Serra, Massimo, primary, Hattinger, Claudia, primary, Picci, Piero, primary, Scotlandi, Katia, primary, Flanagan, Adrienne M., primary, Tirabosco, Roberto, primary, Amary, Maria Fernanda, primary, Halai, Dina, primary, Ballinger, Mandy L., primary, Thomas, David M., primary, Davis, Sean, primary, Barkauskas, Donald A., primary, Marina, Neyssa, primary, Helman, Lee, primary, Otto, George M., primary, Becklin, Kelsie L., primary, Wolf, Natalie K., primary, Weg, Madison T., primary, Tucker, Margaret, primary, Wacholder, Sholom, primary, Fraumeni, Joseph F., primary, Caporaso, Neil E., primary, Boland, Joseph F., primary, Hicks, Belynda D., primary, Vogt, Aurelie, primary, Burdett, Laurie, primary, Yeager, Meredith, primary, Hoover, Robert N., primary, Chanock, Stephen J., primary, and Savage, Sharon A., primary

Published
2023
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8. Supplementary Figures 1 - 11 from A Genome-Wide Scan Identifies Variants in NFIB Associated with Metastasis in Patients with Osteosarcoma

Author

Mirabello, Lisa, primary, Koster, Roelof, primary, Moriarity, Branden S., primary, Spector, Logan G., primary, Meltzer, Paul S., primary, Gary, Joy, primary, Machiela, Mitchell J., primary, Pankratz, Nathan, primary, Panagiotou, Orestis A., primary, Largaespada, David, primary, Wang, Zhaoming, primary, Gastier-Foster, Julie M., primary, Gorlick, Richard, primary, Khanna, Chand, primary, de Toledo, Silvia Regina Caminada, primary, Petrilli, Antonio S., primary, Patiño-Garcia, Ana, primary, Sierrasesúmaga, Luis, primary, Lecanda, Fernando, primary, Andrulis, Irene L., primary, Wunder, Jay S., primary, Gokgoz, Nalan, primary, Serra, Massimo, primary, Hattinger, Claudia, primary, Picci, Piero, primary, Scotlandi, Katia, primary, Flanagan, Adrienne M., primary, Tirabosco, Roberto, primary, Amary, Maria Fernanda, primary, Halai, Dina, primary, Ballinger, Mandy L., primary, Thomas, David M., primary, Davis, Sean, primary, Barkauskas, Donald A., primary, Marina, Neyssa, primary, Helman, Lee, primary, Otto, George M., primary, Becklin, Kelsie L., primary, Wolf, Natalie K., primary, Weg, Madison T., primary, Tucker, Margaret, primary, Wacholder, Sholom, primary, Fraumeni, Joseph F., primary, Caporaso, Neil E., primary, Boland, Joseph F., primary, Hicks, Belynda D., primary, Vogt, Aurelie, primary, Burdett, Laurie, primary, Yeager, Meredith, primary, Hoover, Robert N., primary, Chanock, Stephen J., primary, and Savage, Sharon A., primary

Published
2023
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9. Supplementary Table 2 from A Genome-Wide Scan Identifies Variants in NFIB Associated with Metastasis in Patients with Osteosarcoma

Author

Mirabello, Lisa, primary, Koster, Roelof, primary, Moriarity, Branden S., primary, Spector, Logan G., primary, Meltzer, Paul S., primary, Gary, Joy, primary, Machiela, Mitchell J., primary, Pankratz, Nathan, primary, Panagiotou, Orestis A., primary, Largaespada, David, primary, Wang, Zhaoming, primary, Gastier-Foster, Julie M., primary, Gorlick, Richard, primary, Khanna, Chand, primary, de Toledo, Silvia Regina Caminada, primary, Petrilli, Antonio S., primary, Patiño-Garcia, Ana, primary, Sierrasesúmaga, Luis, primary, Lecanda, Fernando, primary, Andrulis, Irene L., primary, Wunder, Jay S., primary, Gokgoz, Nalan, primary, Serra, Massimo, primary, Hattinger, Claudia, primary, Picci, Piero, primary, Scotlandi, Katia, primary, Flanagan, Adrienne M., primary, Tirabosco, Roberto, primary, Amary, Maria Fernanda, primary, Halai, Dina, primary, Ballinger, Mandy L., primary, Thomas, David M., primary, Davis, Sean, primary, Barkauskas, Donald A., primary, Marina, Neyssa, primary, Helman, Lee, primary, Otto, George M., primary, Becklin, Kelsie L., primary, Wolf, Natalie K., primary, Weg, Madison T., primary, Tucker, Margaret, primary, Wacholder, Sholom, primary, Fraumeni, Joseph F., primary, Caporaso, Neil E., primary, Boland, Joseph F., primary, Hicks, Belynda D., primary, Vogt, Aurelie, primary, Burdett, Laurie, primary, Yeager, Meredith, primary, Hoover, Robert N., primary, Chanock, Stephen J., primary, and Savage, Sharon A., primary

Published
2023
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10. Supplementary Table 4 from A Genome-Wide Scan Identifies Variants in NFIB Associated with Metastasis in Patients with Osteosarcoma

Author

Mirabello, Lisa, primary, Koster, Roelof, primary, Moriarity, Branden S., primary, Spector, Logan G., primary, Meltzer, Paul S., primary, Gary, Joy, primary, Machiela, Mitchell J., primary, Pankratz, Nathan, primary, Panagiotou, Orestis A., primary, Largaespada, David, primary, Wang, Zhaoming, primary, Gastier-Foster, Julie M., primary, Gorlick, Richard, primary, Khanna, Chand, primary, de Toledo, Silvia Regina Caminada, primary, Petrilli, Antonio S., primary, Patiño-Garcia, Ana, primary, Sierrasesúmaga, Luis, primary, Lecanda, Fernando, primary, Andrulis, Irene L., primary, Wunder, Jay S., primary, Gokgoz, Nalan, primary, Serra, Massimo, primary, Hattinger, Claudia, primary, Picci, Piero, primary, Scotlandi, Katia, primary, Flanagan, Adrienne M., primary, Tirabosco, Roberto, primary, Amary, Maria Fernanda, primary, Halai, Dina, primary, Ballinger, Mandy L., primary, Thomas, David M., primary, Davis, Sean, primary, Barkauskas, Donald A., primary, Marina, Neyssa, primary, Helman, Lee, primary, Otto, George M., primary, Becklin, Kelsie L., primary, Wolf, Natalie K., primary, Weg, Madison T., primary, Tucker, Margaret, primary, Wacholder, Sholom, primary, Fraumeni, Joseph F., primary, Caporaso, Neil E., primary, Boland, Joseph F., primary, Hicks, Belynda D., primary, Vogt, Aurelie, primary, Burdett, Laurie, primary, Yeager, Meredith, primary, Hoover, Robert N., primary, Chanock, Stephen J., primary, and Savage, Sharon A., primary

Published
2023
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16. Frequency of Pathogenic Germline Variants in Cancer-Susceptibility Genes in Patients With Osteosarcoma

Author

Mirabello, Lisa, primary, Zhu, Bin, additional, Koster, Roelof, additional, Karlins, Eric, additional, Dean, Michael, additional, Yeager, Meredith, additional, Gianferante, Matthew, additional, Spector, Logan G., additional, Morton, Lindsay M., additional, Karyadi, Danielle, additional, Robison, Leslie L., additional, Armstrong, Gregory T., additional, Bhatia, Smita, additional, Song, Lei, additional, Pankratz, Nathan, additional, Pinheiro, Maisa, additional, Gastier-Foster, Julie M., additional, Gorlick, Richard, additional, de Toledo, Silvia Regina Caminada, additional, Petrilli, Antonio S., additional, Patino-Garcia, Ana, additional, Lecanda, Fernando, additional, Gutierrez-Jimeno, Miriam, additional, Serra, Massimo, additional, Hattinger, Claudia, additional, Picci, Piero, additional, Scotlandi, Katia, additional, Flanagan, Adrienne M., additional, Tirabosco, Roberto, additional, Amary, Maria Fernanda, additional, Kurucu, Nilgün, additional, Ilhan, Inci Ergurhan, additional, Ballinger, Mandy L., additional, Thomas, David M., additional, Barkauskas, Donald A., additional, Mejia-Baltodano, Gerardo, additional, Valverde, Patricia, additional, Hicks, Belynda D., additional, Wang, Mingyi, additional, Hutchinson, Amy A., additional, Tucker, Margaret, additional, Sampson, Joshua, additional, Landi, Maria T., additional, Freedman, Neal D., additional, Gapstur, Susan, additional, Carter, Brian, additional, Hoover, Robert N., additional, Chanock, Stephen J., additional, and Savage, Sharon A., additional

Published
2020
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17. Analysis of heritability and shared heritability based on Genome-Wide Association Studies for 13 Cancer Types

Author

Sampson, Joshua N., Wheeler, William A., Yeager, Meredith, Panagiotou, Orestis, Wang, Zhaoming, Berndt, Sonja I., Lan, Qing, Abnet, Christian C., Amundadottir, Laufey T., Figueroa, Jonine D., Landi, Maria Teresa, Mirabello, Lisa, Savage, Sharon A., Taylor, Philip R., Vivo, Immaculata De, McGlynn, Katherine A., Purdue, Mark P., Rajaraman, Preetha, Adami, Hans-Olov, Ahlbom, Anders, Albanes, Demetrius, Amary, Maria Fernanda, An, She-Juan, Andersson, Ulrika, Andriole, Gerald, Andrulis, Irene L., Angelucci, Emanuele, Ansell, Stephen M., Arici, Cecilia, Armstrong, Bruce K., Arslan, Alan A., Austin, Melissa A., Baris, Dalsu, Barkauskas, Donald A., Bassig, Bryan A., Becker, Nikolaus, Benavente, Yolanda, Benhamou, Simone, Berg, Christine, Van Den Berg, David, Bernstein, Leslie, Bertrand, Kimberly A., Birmann, Brenda M., Black, Amanda, Boeing, Heiner, Boffetta, Paolo, Boutron-Ruault, Marie-Christine, Bracci, Paige M., Brinton, Louise, Brooks-Wilson, Angela R., Bueno-de-Mesquita, H. Bas, Burdett, Laurie, Buring, Julie, Butler, Mary Ann, Cai, Qiuyin, Cancel-Tassin, Geraldine, Canzian, Federico, Carrato, Alfredo, Carreon, Tania, Carta, Angela, Chan, John K. C., Chang, Ellen T., Chang, Gee-Chen, Chang, I-Shou, Chang, Jiang, Chang-Claude, Jenny, Chen, Chien-Jen, Chen, Chih-Yi, Chen, Chu, Chen, Chung-Hsing, Chen, Constance, Chen, Hongyan, Chen, Kexin, Chen, Kuan-Yu, Chen, Kun-Chieh, Chen, Ying, Chen, Ying-Hsiang, Chen, Yi-Song, Chen, Yuh-Min, Chien, Li-Hsin, Chirlaque, María-Dolores, Choi, Jin Eun, Choi, Yi Young, Chow, Wong-Ho, Chung, Charles C., Clavel, Jacqueline, Clavel-Chapelon, Françoise, Cocco, Pierluigi, Colt, Joanne S., Comperat, Eva, Conde, Lucia, Connors, Joseph M., Conti, David, Cortessis, Victoria K., Cotterchio, Michelle, Cozen, Wendy, Crouch, Simon, Crous-Bou, Marta, Cussenot, Olivier, Davis, Faith G., Ding, Ti, Diver, W. Ryan, Dorronsoro, Miren, Dossus, Laure, Duell, Eric J., Ennas, Maria Grazia, Erickson, Ralph L., Feychting, Maria, Flanagan, Adrienne M., Foretova, Lenka, Fraumeni, Joseph F., Freedman, Neal D., Beane Freeman, Laura E., Fuchs, Charles, Gago-Dominguez, Manuela, Gallinger, Steven, Gao, Yu-Tang, Gapstur, Susan M., Garcia-Closas, Montserrat, García-Closas, Reina, Gascoyne, Randy D., Gastier-Foster, Julie, Gaudet, Mia M., Gaziano, J. Michael, Giffen, Carol, Giles, Graham G., Giovannucci, Edward, Glimelius, Bengt, Goggins, Michael, Gokgoz, Nalan, Goldstein, Alisa M., Gorlick, Richard, Gross, Myron, Grubb, Robert, Gu, Jian, Guan, Peng, Gunter, Marc, Guo, Huan, Habermann, Thomas M., Haiman, Christopher A., Halai, Dina, Hallmans, Goran, Hassan, Manal, Hattinger, Claudia, He, Qincheng, He, Xingzhou, Helzlsouer, Kathy, Henderson, Brian, Henriksson, Roger, Hjalgrim, Henrik, Hoffman-Bolton, Judith, Hohensee, Chancellor, Holford, Theodore R., Holly, Elizabeth A., Hong, Yun-Chul, Hoover, Robert N., Horn-Ross, Pamela L., Hosain, G. M. Monawar, Hosgood, H. Dean, Hsiao, Chin-Fu, Hu, Nan, Hu, Wei, Hu, Zhibin, Huang, Ming-Shyan, Huerta, Jose-Maria, Hung, Jen-Yu, Hutchinson, Amy, Inskip, Peter D., Jackson, Rebecca D., Jacobs, Eric J., Jenab, Mazda, Jeon, Hyo-Sung, Ji, Bu-Tian, Jin, Guangfu, Jin, Li, Johansen, Christoffer, Johnson, Alison, Jung, Yoo Jin, Kaaks, Rudolph, Kamineni, Aruna, Kane, Eleanor, Kang, Chang Hyun, Karagas, Margaret R., Kelly, Rachel S., Khaw, Kay-Tee, Kim, Christopher, Kim, Hee Nam, Kim, Jin Hee, Kim, Jun Suk, Kim, Yeul Hong, Kim, Young Tae, Kim, Young-Chul, Kitahara, Cari M., Klein, Alison P., Klein, Robert J., Kogevinas, Manolis, Kohno, Takashi, Kolonel, Laurence N., Kooperberg, Charles, Kricker, Anne, Krogh, Vittorio, Kunitoh, Hideo, Kurtz, Robert C., Kweon, Sun-Seog, LaCroix, Andrea, Lawrence, Charles, Lecanda, Fernando, Lee, Victor Ho Fun, Li, Donghui, Li, Haixin, Li, Jihua, Li, Yao-Jen, Li, Yuqing, Liao, Linda M., Liebow, Mark, Lightfoot, Tracy, Lim, Wei-Yen, Lin, Chien-Chung, Lin, Dongxin, Lindstrom, Sara, Linet, Martha S., Link, Brian K., Liu, Chenwei, Liu, Jianjun, Liu, Li, Ljungberg, Börje, Lloreta, Josep, Lollo, Simonetta Di, Lu, Daru, Lund, Eiluv, Malats, Nuria, Mannisto, Satu, Marchand, Loic Le, Marina, Neyssa, Masala, Giovanna, Mastrangelo, Giuseppe, Matsuo, Keitaro, Maynadie, Marc, McKay, James, McKean-Cowdin, Roberta, Melbye, Mads, Melin, Beatrice S., Michaud, Dominique S., Mitsudomi, Tetsuya, Monnereau, Alain, Montalvan, Rebecca, Moore, Lee E., Mortensen, Lotte Maxild, Nieters, Alexandra, North, Kari E., Novak, Anne J., Oberg, Ann L., Offit, Kenneth, Oh, In-Jae, Olson, Sara H., Palli, Domenico, Pao, William, Park, In Kyu, Park, Jae Yong, Park, Kyong Hwa, Patiño-Garcia, Ana, Pavanello, Sofia, Peeters, Petra H. M., Perng, Reury-Perng, Peters, Ulrike, Petersen, Gloria M., Picci, Piero, Pike, Malcolm C., Porru, Stefano, Prescott, Jennifer, Prokunina-Olsson, Ludmila, Qian, Biyun, Qiao, You-Lin, Rais, Marco, Riboli, Elio, Riby, Jacques, Risch, Harvey A., Rizzato, Cosmeri, Rodabough, Rebecca, Roman, Eve, Roupret, Morgan, Ruder, Avima M., de Sanjose, Silvia, Scelo, Ghislaine, Schned, Alan, Schumacher, Fredrick, Schwartz, Kendra, Schwenn, Molly, Scotlandi, Katia, Seow, Adeline, Serra, Consol, Serra, Massimo, Sesso, Howard D., Setiawan, Veronica Wendy, Severi, Gianluca, Severson, Richard K., Shanafelt, Tait D., Shen, Hongbing, Shen, Wei, Shin, Min-Ho, Shiraishi, Kouya, Shu, Xiao-Ou, Siddiq, Afshan, Sierrasesúmaga, Luis, Sihoe, Alan Dart Loon, Skibola, Christine F., Smith, Alex, Smith, Martyn T., Southey, Melissa C., Spinelli, John J., Staines, Anthony, Stampfer, Meir, Stern, Marianna C., Stevens, Victoria L., Stolzenberg-Solomon, Rachael S., Su, Jian, Su, Wu-Chou, Sund, Malin, Sung, Jae Sook, Sung, Sook Whan, Tan, Wen, Tang, Wei, Tardón, Adonina, Thomas, David, Thompson, Carrie A., Tinker, Lesley F., Tirabosco, Roberto, Tjønneland, Anne, Travis, Ruth C., Trichopoulos, Dimitrios, Tsai, Fang-Yu, Tsai, Ying-Huang, Tucker, Margaret, Turner, Jenny, Vajdic, Claire M., Vermeulen, Roel C. H., Villano, Danylo J., Vineis, Paolo, Virtamo, Jarmo, Visvanathan, Kala, Wactawski-Wende, Jean, Wang, Chaoyu, Wang, Chih-Liang, Wang, Jiu-Cun, Wang, Junwen, Wei, Fusheng, Weiderpass, Elisabete, Weiner, George J., Weinstein, Stephanie, Wentzensen, Nicolas, White, Emily, Witzig, Thomas E., Wolpin, Brian M., Wong, Maria Pik, Wu, Chen, Wu, Guoping, Wu, Junjie, Wu, Tangchun, Wu, Wei, Wu, Xifeng, Wu, Yi-Long, Wunder, Jay S., Xiang, Yong-Bing, Xu, Jun, Xu, Ping, Yang, Pan-Chyr, Yang, Tsung-Ying, Ye, Yuanqing, Yin, Zhihua, Yokota, Jun, Yoon, Ho-Il, Yu, Chong-Jen, Yu, Herbert, Yu, Kai, Yuan, Jian-Min, Zelenetz, Andrew, Zeleniuch-Jacquotte, Anne, Zhang, Xu-Chao, Zhang, Yawei, Zhao, Xueying, Zhao, Zhenhong, Zheng, Hong, Zheng, Tongzhang, Zheng, Wei, Zhou, Baosen, Zhu, Meng, Zucca, Mariagrazia, Boca, Simina M., Cerhan, James R., Ferri, Giovanni M., Hartge, Patricia, Hsiung, Chao Agnes, Magnani, Corrado, Miligi, Lucia, Morton, Lindsay M., Smedby, Karin E., Teras, Lauren R., Vijai, Joseph, Wang, Sophia S., Brennan, Paul, Caporaso, Neil E., Hunter, David J., Kraft, Peter, Rothman, Nathaniel, Silverman, Debra T., Slager, Susan L., Chanock, Stephen J., and Chatterjee, Nilanjan

Subjects
Adult, Asian Continental Ancestry Group, Male, Lung Neoplasms, DATABASE, European Continental Ancestry Group, RELATIVES, Bone Neoplasms, Polymorphism, Single Nucleotide, Article, LUNG-CANCER, Testicular Neoplasms, Neoplasms, SWEDEN, LYMPHOMA, Humans, Genetic Predisposition to Disease, FAMILIAL RISK, Oncology & Carcinogenesis, Aged, Osteosarcoma, Science & Technology, MUTATIONS, Smoking, Middle Aged, Leukemia, Lymphocytic, Chronic, B-Cell, PANCREATIC-CANCER, Kidney Neoplasms, MULTIPLE SUSCEPTIBILITY LOCI, INDIVIDUALS, Oncology, Urinary Bladder Neoplasms, Tissue Array Analysis, Female, Lymphoma, Large B-Cell, Diffuse, Life Sciences & Biomedicine, 1112 Oncology And Carcinogenesis, Genome-Wide Association Study
Abstract

Background: Studies of related individuals have consistently demonstrated notable familial aggregation of cancer. We aim to estimate the heritability and genetic correlation attributable to the additive effects of common SNPs for cancer at 13 anatomical sites. Methods: Between 2007 and 2014, the US National Cancer Institute has generated data from genome-wide association studies (GWAS) for 49,492 cancer cases and 34,131 controls. We apply novel mixed model methodology (GCTA) to this GWAS data to estimate the heritability of individual cancers, as well as the proportion of heritability attributable to cigarette smoking in smoking-related cancers, and the genetic correlation between pairs of cancers. Results: GWAS heritability was statistically significant at nearly all sites, with the estimates of array-based heritability, hl2, on the liability threshold (LT) scale ranging from 0.05 to 0.38. Estimating the combined heritability of multiple smoking characteristics, we calculate that at least 24% (95% CI = 14% - 37%) and 7% (4% - 11%) of the heritability for lung and bladder cancer, respectively, can be attributed to genetic determinants of smoking. Most pairs of cancers studied did not show evidence of strong genetic correlation. We found only four pairs of cancers with marginally statistically significant correlations, specifically kidney and testes (ρ=0.73, SE=0.28), Diffuse Large B-Cell Lymphoma (DLBCL) and pediatric osteosarcoma (ρ=0.53, SE=0.21), DLBCL and Chronic Lymphocytic Leukemia (CLL) (ρ=0.51, SE=0.18), and bladder and lung (ρ=0.35, SE=0.14). Correlation analysis also indicates that the genetic architecture of lung cancer differs between a smoking population of European ancestry and a non-smoking Asian population, allowing for the possibility that the genetic etiology for the same disease can vary by population and environmental exposures. Conclusion: Our results provide important insights into the genetic architecture of cancers and suggest new avenues for investigation.

Published
2015

18. Analysis of Heritability and Shared Heritability Based on Genome-Wide Association Studies for Thirteen Cancer Types

Author

Rajaraman, Preetha, Angelucci, Emanuele, Lan, Qing, Mirabello, Lisa, Austin, Melissa A., McGlynn, Katherine A., Amundadottir, Laufey T., Vivo, Immaculata De, Purdue, Mark P., Arici, Cecilia, Ansell, Stephen M., Taylor, Philip R., Landi, Maria Teresa, Andersson, Ulrika, Albanes, Demetrius, Yeager, Meredith, Adami, Hans-Olov, Abnet, Christian C., Wang, Zhaoming, Savage, Sharon A., Wheeler, William A., Andrulis, Irene L., Amary, Maria Fernanda, Panagiotou, Orestis, Sampson, Joshua N., An, She-Juan, Figueroa, Jonine D., Berndt, Sonja I., Armstrong, Bruce K., Arslan, Alan A., Ahlbom, Anders, and Andriole, Gerald

Abstract

Studies of related individuals have consistently demonstrated notable familial aggregation of cancer. We aim to estimate the heritability and genetic correlation attributable to the additive effects of common single-nucleotide polymorphisms (SNPs) for cancer at 13 anatomical sites.

Published
2015
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19. Analysis of Heritability and Shared Heritability Based on Genome-Wide Association Studies for 13 Cancer Types

Author

Sampson, Joshua N. Wheeler, William A. Yeager, Meredith and Panagiotou, Orestis Wang, Zhaoming Berndt, Sonja I. Lan, Qing Abnet, Christian C. Amundadottir, Laufey T. Figueroa, Jonine D. Landi, Maria Teresa Mirabello, Lisa Savage, Sharon A. Taylor, Philip R. De Vivo, Immaculata McGlynn, Katherine A. Purdue, Mark P. Rajaraman, Preetha Adami, Hans-Olov and Ahlbom, Anders Albanes, Demetrius Amary, Maria Fernanda An, She-Juan Andersson, Ulrika Andriole, Jr., Gerald Andrulis, Irene L. Angelucci, Emanuele Ansell, Stephen M. Arici, Cecilia Armstrong, Bruce K. Arslan, Alan A. Austin, Melissa A. Baris, Dalsu Barkauskas, Donald A. Bassig, Bryan A. and Becker, Nikolaus Benavente, Yolanda Benhamou, Simone Berg, Christine Van Den Berg, David Bernstein, Leslie Bertrand, Kimberly A. Birmann, Brenda M. Black, Amanda Boeing, Heiner and Boffetta, Paolo Boutron-Ruault, Marie-Christine Bracci, Paige M. Brinton, Louise Brooks-Wilson, Angela R. and Bueno-de-Mesquita, H. Bas Burdett, Laurie Buring, Julie and Butler, Mary Ann Cai, Qiuyin Cancel-Tassin, Geraldine and Canzian, Federico Carrato, Alfredo Carreon, Tania Carta, Angela Chan, John K. C. Chang, Ellen T. Chang, Gee-Chen and Chang, I-Shou Chang, Jiang Chang-Claude, Jenny Chen, Chien-Jen Chen, Chih-Yi Chen, Chu Chen, Chung-Hsing and Chen, Constance Chen, Hongyan Chen, Kexin Chen, Kuan-Yu and Chen, Kun-Chieh Chen, Ying Chen, Ying-Hsiang Chen, Yi-Song and Chen, Yuh-Min Chien, Li-Hsin Chirlaque, Maria-Dolores and Choi, Jin Eun Choi, Yi Young Chow, Wong-Ho Chung, Charles C. and Clavel, Jacqueline Clavel-Chapelon, Franoise Cocco, Pierluigi Colt, Joanne S. Comperat, Eva Conde, Lucia and Connors, Joseph M. Conti, David Cortessis, Victoria K. and Cotterchio, Michelle Cozen, Wendy Crouch, Simon Crous-Bou, Marta Cussenot, Olivier Davis, Faith G. Ding, Ti Diver, W. Ryan Dorronsoro, Miren Dossus, Laure Duell, Eric J. and Ennas, Maria Grazia Erickson, Ralph L. Feychting, Maria and Flanagan, Adrienne M. Foretova, Lenka Fraumeni, Jr., Joseph F. and Freedman, Neal D. Freeman, Laura E. Beane Fuchs, Charles and Gago-Dominguez, Manuela Gallinger, Steven Gao, Yu-Tang and Gapstur, Susan M. Garcia-Closas, Montserrat Garcia-Closas, Reina and Gascoyne, Randy D. Gastier-Foster, Julie Gaudet, Mia M. and Gaziano, J. Michael Giffen, Carol Giles, Graham G. and Giovannucci, Edward Glimelius, Bengt Goggins, Michael and Gokgoz, Nalan Goldstein, Alisa M. Gorlick, Richard Gross, Myron Grubb, III, Robert Gu, Jian Guan, Peng Gunter, Marc Guo, Huan Habermann, Thomas M. Haiman, Christopher A. and Halai, Dina Hallmans, Goran Hassan, Manal Hattinger, Claudia He, Qincheng He, Xingzhou Helzlsouer, Kathy and Henderson, Brian Henriksson, Roger Hjalgrim, Henrik and Hoffman-Bolton, Judith Hohensee, Chancellor Holford, Theodore R. and Holly, Elizabeth A. Hong, Yun-Chul Hoover, Robert N. and Horn-Ross, Pamela L. Hosain, G. M. Monawar Hosgood, III, H. Dean and Hsiao, Chin-Fu Hu, Nan Hu, Wei Hu, Zhibin Huang, Ming-Shyan Huerta, Jose-Maria Hung, Jen-Yu Hutchinson, Amy and Inskip, Peter D. Jackson, Rebecca D. Jacobs, Eric J. and Jenab, Mazda Jeon, Hyo-Sung Ji, Bu-Tian Jin, Guangfu and Jin, Li Johansen, Christoffer Johnson, Alison Jung, Yoo Jin and Kaaks, Rudolph Kamineni, Aruna Kane, Eleanor Kang, Chang Hyun Karagas, Margaret R. Kelly, Rachel S. Khaw, Kay-Tee and Kim, Christopher Kim, Hee Nam Kim, Jin Hee Kim, Jun Suk and Kim, Yeul Hong Kim, Young Tae Kim, Young-Chul Kitahara, Cari M. Klein, Alison P. Klein, Robert J. Kogevinas, Manolis and Kohno, Takashi Kolonel, Laurence N. Kooperberg, Charles and Kricker, Anne Krogh, Vittorio Kunitoh, Hideo Kurtz, Robert C. Kweon, Sun-Seog LaCroix, Andrea Lawrence, Charles and Lecanda, Fernando Lee, Victor Ho Fun Li, Donghui Li, Haixin and Li, Jihua Li, Yao-Jen Li, Yuqing Liao, Linda M. and Liebow, Mark Lightfoot, Tracy Lim, Wei-Yen Lin, Chien-Chung and Lin, Dongxin Lindstrom, Sara Linet, Martha S. Link, Brian K. Liu, Chenwei Liu, Jianjun Liu, Li Ljungberg, Boerje Lloreta, Josep Di Lollo, Simonetta Lu, Daru Lund, Eiluv Malats, Nuria Mannisto, Satu Le Marchand, Loic and Marina, Neyssa Masala, Giovanna Mastrangelo, Giuseppe and Matsuo, Keitaro Maynadie, Marc Mckay, James McKean-Cowdin, Roberta Melbye, Mads Melin, Beatrice S. Michaud, Dominique S. Mitsudomi, Tetsuya Monnereau, Alain Montalvan, Rebecca and Moore, Lee E. Mortensen, Lotte Maxild Nieters, Alexandra and North, Kari E. Novak, Anne J. Oberg, Ann L. Offit, Kenneth and Oh, In-Jae Olson, Sara H. Palli, Domenico Pao, William and Park, In Kyu Park, Jae Yong Park, Kyong Hwa and Patino-Garcia, Ana Pavanello, Sofia Peeters, Petra H. M. and Perng, Reury-Perng Peters, Ulrike Petersen, Gloria M. Picci, Piero Pike, Malcolm C. Porru, Stefano Prescott, Jennifer and Prokunina-Olsson, Ludmila Qian, Biyun Qiao, You-Lin Rais, Marco Riboli, Elio Riby, Jacques Risch, Harvey A. and Rizzato, Cosmeri Rodabough, Rebecca Roman, Eve Roupret, Morgan Ruder, Avima M. de Sanjose, Silvia Scelo, Ghislaine and Schned, Alan Schumacher, Fredrick Schwartz, Kendra and Schwenn, Molly Scotlandi, Katia Seow, Adeline Serra, Consol and Serra, Massimo Sesso, Howard D. Setiawan, Veronica Wendy and Severi, Gianluca Severson, Richard K. Shanafelt, Tait D. and Shen, Hongbing Shen, Wei Shin, Min-Ho Shiraishi, Kouya and Shu, Xiao-Ou Siddiq, Afshan Sierrasesumaga, Luis Sihoe, Alan Dart Loon Skibola, Christine F. Smith, Alex Smith, Martyn T. and Southey, Melissa C. Spinelli, John J. Staines, Anthony and Stampfer, Meir Stern, Marianna C. Stevens, Victoria L. and Stolzenberg-Solomon, Rachael S. Su, Jian Su, Wu-Chou Sund, Malin Sung, Jae Sook Sung, Sook Whan Tan, Wen Tang, Wei and Tardon, Adonina Thomas, David Thompson, Carrie A. and Tinker, Lesley F. Tirabosco, Roberto Tjonneland, Anne and Travis, Ruth C. Trichopoulos, Dimitrios Tsai, Fang-Yu Tsai, Ying-Huang Tucker, Margaret Turner, Jenny Vajdic, Claire M. and Vermeulen, Roel C. H. Villano, Danylo J. Vineis, Paolo and Virtamo, Jarmo Visvanathan, Kala Wactawski-Wende, Jean Wang, Chaoyu Wang, Chih-Liang Wang, Jiu-Cun Wang, Junwen Wei, Fusheng Weiderpass, Elisabete Weiner, George J. Weinstein, Stephanie Wentzensen, Nicolas White, Emily Witzig, Thomas E. and Wolpin, Brian M. Wong, Maria Pik Wu, Chen Wu, Guoping and Wu, Junjie Wu, Tangchun Wu, Wei Wu, Xifeng Wu, Yi-Long Wunder, Jay S. Xiang, Yong-Bing Xu, Jun Xu, Ping and Yang, Pan-Chyr Yang, Tsung-Ying Ye, Yuanqing Yin, Zhihua and Yokota, Jun Yoon, Ho-Il Yu, Chong-Jen Yu, Herbert and Yu, Kai Yuan, Jian-Min Zelenetz, Andrew Zeleniuch-Jacquotte, Anne Zhang, Xu-Chao Zhang, Yawei Zhao, Xueying Zhao, Zhenhong Zheng, Hong Zheng, Tongzhang Zheng, Wei Zhou, Baosen Zhu, Meng Zucca, Mariagrazia Boca, Simina M. and Cerhan, James R. Ferri, Giovanni M. Hartge, Patricia Hsiung, Chao Agnes Magnani, Corrado Miligi, Lucia Morton, Lindsay M. and Smedby, Karin E. Teras, Lauren R. Vijai, Joseph Wang, Sophia S. Brennan, Paul Caporaso, Neil E. Hunter, David J. and Kraft, Peter Rothman, Nathaniel Silverman, Debra T. and Slager, Susan L. Chanock, Stephen J. Chatterjee, Nilanjan

Abstract

Background: Studies of related individuals have consistently demonstrated notable familial aggregation of cancer. We aim to estimate the heritability and genetic correlation attributable to the additive effects of common single-nucleotide polymorphisms (SNPs) for cancer at 13 anatomical sites. Methods: Between 2007 and 2014, the US National Cancer Institute has generated data from genome-wide association studies (GWAS) for 49 492 cancer case patients and 34 131 control patients. We apply novel mixed model methodology (GCTA) to this GWAS data to estimate the heritability of individual cancers, as well as the proportion of heritability attributable to cigarette smoking in smoking-related cancers, and the genetic correlation between pairs of cancers. Results: GWAS heritability was statistically significant at nearly all sites, with the estimates of array-based heritability, h(l)(2), on the liability threshold (LT) scale ranging from 0.05 to 0.38. Estimating the combined heritability of multiple smoking characteristics, we calculate that at least 24% (95% confidence interval [CI] = 14% to 37%) and 7% (95% CI = 4% to 11%) of the heritability for lung and bladder cancer, respectively, can be attributed to genetic determinants of smoking. Most pairs of cancers studied did not show evidence of strong genetic correlation. We found only four pairs of cancers with marginally statistically significant correlations, specifically kidney and testes (rho = 0.73, SE = 0.28), diffuse large B-cell lymphoma (DLBCL) and pediatric osteosarcoma (rho = 0.53, SE = 0.21), DLBCL and chronic lymphocytic leukemia (CLL) (rho = 0.51, SE = 0.18), and bladder and lung (rho = 0.35, SE = 0.14). Correlation analysis also indicates that the genetic architecture of lung cancer differs between a smoking population of European ancestry and a nonsmoking Asian population, allowing for the possibility that the genetic etiology for the same disease can vary by population and environmental exposures. Conclusion: Our results provide important insights into the genetic architecture of cancers and suggest new avenues for investigation.

Published
2015

20. Genome-wide association study identifies two susceptibility loci for osteosarcoma

Author

Savage, Sharon A. Mirabello, Lisa Wang, Zhaoming and Gastier-Foster, Julie M. Gorlick, Richard Khanna, Chand and Flanagan, Adrienne M. Tirabosco, Roberto Andrulis, Irene L. and Wunder, Jay S. Gokgoz, Nalan Patino-Garcia, Ana and Sierrasesumaga, Luis Lecanda, Fernando Kurucu, Nilgun Ilhan, Inci Ergurhan Sari, Neriman Serra, Massimo Hattinger, Claudia Picci, Piero Spector, Logan G. Barkauskas, Donald A. and Marina, Neyssa Caminada de Toledo, Silvia Regina Petrilli, Antonio S. Amary, Maria Fernanda Halai, Dina Thomas, David M. Douglass, Chester Meltzer, Paul S. Jacobs, Kevin and Chung, Charles C. Berndt, Sonja I. Purdue, Mark P. Caporaso, Neil E. Tucker, Margaret Rothman, Nathaniel Landi, Maria Teresa Silverman, Debra T. Kraft, Peter Hunter, David J. and Malats, Nuria Kogevinas, Manolis Wacholder, Sholom Troisi, Rebecca Helman, Lee Fraumeni, Jr., Joseph F. Yeager, Meredith Hoover, Robert N. Chanock, Stephen J.

Abstract

Osteosarcoma is the most common primary bone malignancy of adolescents and young adults. To better understand the genetic etiology of osteosarcoma, we performed a multistage genome-wide association study consisting of 941 individuals with osteosarcoma (cases) and 3,291 cancer-free adult controls of European ancestry. Two loci achieved genome-wide significance: a locus in the GRM4 gene at 6p21.3 (encoding glutamate receptor metabotropic 4; rs1906953; P = 8.1 x 10(-9)) and a locus in the gene desert at 2p25.2 (rs7591996 and rs10208273; P = 1.0 x 10(-8) and 2.9 x 10(-7), respectively). These two loci warrant further exploration to uncover the biological mechanisms underlying susceptibility to osteosarcoma.

Published
2013

21. A Genome-Wide Scan Identifies Variants in NFIB Associated with Metastasis in Patients with Osteosarcoma

Author

Mirabello, Lisa, primary, Koster, Roelof, additional, Moriarity, Branden S., additional, Spector, Logan G., additional, Meltzer, Paul S., additional, Gary, Joy, additional, Machiela, Mitchell J., additional, Pankratz, Nathan, additional, Panagiotou, Orestis A., additional, Largaespada, David, additional, Wang, Zhaoming, additional, Gastier-Foster, Julie M., additional, Gorlick, Richard, additional, Khanna, Chand, additional, de Toledo, Silvia Regina Caminada, additional, Petrilli, Antonio S., additional, Patiño-Garcia, Ana, additional, Sierrasesúmaga, Luis, additional, Lecanda, Fernando, additional, Andrulis, Irene L., additional, Wunder, Jay S., additional, Gokgoz, Nalan, additional, Serra, Massimo, additional, Hattinger, Claudia, additional, Picci, Piero, additional, Scotlandi, Katia, additional, Flanagan, Adrienne M., additional, Tirabosco, Roberto, additional, Amary, Maria Fernanda, additional, Halai, Dina, additional, Ballinger, Mandy L., additional, Thomas, David M., additional, Davis, Sean, additional, Barkauskas, Donald A., additional, Marina, Neyssa, additional, Helman, Lee, additional, Otto, George M., additional, Becklin, Kelsie L., additional, Wolf, Natalie K., additional, Weg, Madison T., additional, Tucker, Margaret, additional, Wacholder, Sholom, additional, Fraumeni, Joseph F., additional, Caporaso, Neil E., additional, Boland, Joseph F., additional, Hicks, Belynda D., additional, Vogt, Aurelie, additional, Burdett, Laurie, additional, Yeager, Meredith, additional, Hoover, Robert N., additional, Chanock, Stephen J., additional, and Savage, Sharon A., additional

Published
2015
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24. Genome-wide association study identifies two susceptibility loci for osteosarcoma

Author

Savage, Sharon A, primary, Mirabello, Lisa, additional, Wang, Zhaoming, additional, Gastier-Foster, Julie M, additional, Gorlick, Richard, additional, Khanna, Chand, additional, Flanagan, Adrienne M, additional, Tirabosco, Roberto, additional, Andrulis, Irene L, additional, Wunder, Jay S, additional, Gokgoz, Nalan, additional, Patiño-Garcia, Ana, additional, Sierrasesúmaga, Luis, additional, Lecanda, Fernando, additional, Kurucu, Nilgün, additional, Ilhan, Inci Ergurhan, additional, Sari, Neriman, additional, Serra, Massimo, additional, Hattinger, Claudia, additional, Picci, Piero, additional, Spector, Logan G, additional, Barkauskas, Donald A, additional, Marina, Neyssa, additional, de Toledo, Silvia Regina Caminada, additional, Petrilli, Antonio S, additional, Amary, Maria Fernanda, additional, Halai, Dina, additional, Thomas, David M, additional, Douglass, Chester, additional, Meltzer, Paul S, additional, Jacobs, Kevin, additional, Chung, Charles C, additional, Berndt, Sonja I, additional, Purdue, Mark P, additional, Caporaso, Neil E, additional, Tucker, Margaret, additional, Rothman, Nathaniel, additional, Landi, Maria Teresa, additional, Silverman, Debra T, additional, Kraft, Peter, additional, Hunter, David J, additional, Malats, Nuria, additional, Kogevinas, Manolis, additional, Wacholder, Sholom, additional, Troisi, Rebecca, additional, Helman, Lee, additional, Fraumeni, Joseph F, additional, Yeager, Meredith, additional, Hoover, Robert N, additional, and Chanock, Stephen J, additional

Published
2013
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25. Abstract 4593: Genome-wide association study identifies novel loci associated with osteosarcoma.

Author

Savage, Sharon A., primary, Mirabello, Lisa, additional, Wang, Zhaoming, additional, Gastier-Foster, Julie, additional, Gorlick, Richard, additional, Khanna, Chand, additional, Flanagan, Adrienne M., additional, Tirabosco, Roberto, additional, Andrulis, Irene L., additional, Wunder, Jay, additional, Gokgoz, Nalan, additional, Patino-Garcia, Ana, additional, Sierrasesumaga, Luis, additional, Lecanda, Fernando, additional, Kurucu, Nilgun, additional, Ilhan, Inci Ergurhan, additional, Sari, Neriman, additional, Serra, Massimo, additional, Hattinger, Claudia, additional, Picci, Piero, additional, Spector, Logan, additional, Barkauskas, Donald A., additional, Marina, Neyssa, additional, Caminada de Toledo, Siliva, additional, Petrilli, Sergio, additional, Amary, Maria Fernanda, additional, Halai, Dina, additional, Thomas, David, additional, Douglass, Chester, additional, Meltzer, Paul, additional, Jacobs, Kevin, additional, Chung, Charles C., additional, Berndt, Sonja I., additional, Purdue, Mark P., additional, Caporaso, Neil E., additional, Tucker, Margaret, additional, Rothman, Nathaniel, additional, Landi, Maria Teresa, additional, Silverman, Debra T., additional, Kraft, Peter, additional, Hunter, David J., additional, Malats, Nuria, additional, Kogevinas, Manolis, additional, Wacholder, Sholom, additional, Troisi, Rebecca, additional, Helman, Lee, additional, Fraumeni, Joseph F., additional, Yeager, Meredith, additional, Hoover, Robert, additional, and Chanock, Stephen J., additional

Published
2013
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26. The role of epidermal growth factor receptor in chordoma pathogenesis: a potential therapeutic target

Author

Shalaby, Asem, primary, Presneau, Nadège, additional, Ye, Hongtao, additional, Halai, Dina, additional, Berisha, Fitim, additional, Idowu, Bernadine, additional, Leithner, Andreas, additional, Liegl, Bernadette, additional, Briggs, Timothy RW, additional, Bacsi, Krisztian, additional, Kindblom, Lars‐Gunnar, additional, Athanasou, Nicholas, additional, Amary, Maria Fernanda, additional, Hogendoorn, Pancras CW, additional, Tirabosco, Roberto, additional, and Flanagan, Adrienne M, additional

Published
2010
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29. Adamantinoma de ossos longos

Author

Próspero, José Donato de, primary, Baptista, Pedro Péricles Ribeiro, additional, Consentino, Elio, additional, Hasegawa, Cláudia de Cássia Tanoue, additional, Amary, Maria Fernanda Carriel, additional, and Yonamine, Eduardo Sadao, additional

Published
2008
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30. Detection of β-Catenin Mutations in Paraffin-embedded Sporadic Desmoid-type Fibromatosis by Mutation-specific Restriction Enzyme Digestion (MSRED): an Ancillary Diagnostic Tool

Author

Amary, Maria Fernanda C., primary, Pauwels, Patrick, additional, Meulemans, Els, additional, Roemen, Guido M., additional, Islam, Lily, additional, Idowu, Bernadine, additional, Bousdras, Konstantinos, additional, Diss, Timothy C., additional, O'Donnell, Paul, additional, and Flanagan, Adrienne M., additional

Published
2007
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32. Detection of beta-catenin mutations in paraffin-embedded sporadic desmoid-type fibromatosis by mutation-specific restriction enzyme digestion (MSRED): an ancillary diagnostic tool.

Author

Amary MF, Pauwels P, Meulemans E, Roemen GM, Islam L, Idowu B, Bousdras K, Diss TC, O'Donnell P, and Flanagan AM

Subjects
Adolescent, Adult, Aged, Base Sequence, Cell Nucleus chemistry, Child, Codon, Diagnosis, Differential, Female, Fibromatosis, Aggressive genetics, Fibromatosis, Aggressive metabolism, Fibromatosis, Aggressive pathology, Humans, Immunohistochemistry methods, Magnetic Resonance Imaging, Male, Middle Aged, Molecular Sequence Data, Paraffin Embedding, Predictive Value of Tests, Sensitivity and Specificity, Tissue Array Analysis, beta Catenin analysis, DNA Mutational Analysis methods, Fibromatosis, Aggressive diagnosis, Gene Expression Regulation, Neoplastic, Mutation, Restriction Mapping, beta Catenin genetics
Abstract

Desmoid-type fibromatosis is a locally aggressive deep soft tissue tumor. Some cases are associated with adenosis polyposis coli germline mutations whereas others harbor somatic beta-catenin point mutations mainly in exon 3, codons 41 and 45. These mutations result in stabilization of beta-catenin, and activation of the Wnt signaling pathway. The aim of this study was to determine the specificity and sensitivity of these 3 most common beta-catenin mutations in the diagnosis of desmoid-type fibromatosis using paraffin-embedded material. The results were compared with nuclear expression of beta-catenin. Mutation-specific restriction enzyme digestion methodology was employed to detect the 3 mutations. One hundred and thirty-three cases were analyzed, including 76 desmoid-type, and 18 superficial fibromatosis, in addition to a further 39 fibromatosis mimics. A restriction site was present for analysis of the codon 41 mutation. Mismatch primers were designed for the codon 45 mutations. Mutations were detected in 66 cases (87%) of 76 desmoid-type fibromatosis (71 extra-abdominal). Of these, 34 (45%) were in codon 45 (TCT>TTT), 27 (35%) in codon 41 (ACC>GCC), and 5 (7%) in codon 45 (TCT>CCT). No mutations were detected in the other lesions studied. All desmoid-type fibromatosis cases and 72% of the mimics tested showed nuclear positivity for beta-catenin indicating immunohistochemistry is a sensitive but not a specific test for desmoid-type fibromatosis. In contrast, to date, beta-catenin mutations have not been detected in any lesions which mimic desmoid-type fibromatosis. Mutation-specific restriction enzyme digestion, a simple and efficient means of detecting the common beta-catenin mutations in desmoid-type fibromatosis, complements light microscopy in reaching a diagnosis.

Published
2007
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