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906 results on '"Haile, Robert W."'

1. Fine-mapping analysis including over 254,000 East Asian and European descendants identifies 136 putative colorectal cancer susceptibility genes

Author

Chen, Zhishan, Guo, Xingyi, Tao, Ran, Huyghe, Jeroen R., Law, Philip J., Fernandez-Rozadilla, Ceres, Ping, Jie, Jia, Guochong, Long, Jirong, Li, Chao, Shen, Quanhu, Xie, Yuhan, Timofeeva, Maria N., Thomas, Minta, Schmit, Stephanie L., Díez-Obrero, Virginia, Devall, Matthew, Moratalla-Navarro, Ferran, Fernandez-Tajes, Juan, Palles, Claire, Sherwood, Kitty, Briggs, Sarah E. W., Svinti, Victoria, Donnelly, Kevin, Farrington, Susan M., Blackmur, James, Vaughan-Shaw, Peter G., Shu, Xiao-Ou, Lu, Yingchang, Broderick, Peter, Studd, James, Harrison, Tabitha A., Conti, David V., Schumacher, Fredrick R., Melas, Marilena, Rennert, Gad, Obón-Santacana, Mireia, Martín-Sánchez, Vicente, Oh, Jae Hwan, Kim, Jeongseon, Jee, Sun Ha, Jung, Keum Ji, Kweon, Sun-Seog, Shin, Min-Ho, Shin, Aesun, Ahn, Yoon-Ok, Kim, Dong-Hyun, Oze, Isao, Wen, Wanqing, Matsuo, Keitaro, Matsuda, Koichi, Tanikawa, Chizu, Ren, Zefang, Gao, Yu-Tang, Jia, Wei-Hua, Hopper, John L., Jenkins, Mark A., Win, Aung Ko, Pai, Rish K., Figueiredo, Jane C., Haile, Robert W., Gallinger, Steven, Woods, Michael O., Newcomb, Polly A., Duggan, David, Cheadle, Jeremy P., Kaplan, Richard, Kerr, Rachel, Kerr, David, Kirac, Iva, Böhm, Jan, Mecklin, Jukka-Pekka, Jousilahti, Pekka, Knekt, Paul, Aaltonen, Lauri A., Rissanen, Harri, Pukkala, Eero, Eriksson, Johan G., Cajuso, Tatiana, Hänninen, Ulrika, Kondelin, Johanna, Palin, Kimmo, Tanskanen, Tomas, Renkonen-Sinisalo, Laura, Männistö, Satu, Albanes, Demetrius, Weinstein, Stephanie J., Ruiz-Narvaez, Edward, Palmer, Julie R., Buchanan, Daniel D., Platz, Elizabeth A., Visvanathan, Kala, Ulrich, Cornelia M., Siegel, Erin, Brezina, Stefanie, Gsur, Andrea, Campbell, Peter T., Chang-Claude, Jenny, Hoffmeister, Michael, Brenner, Hermann, Slattery, Martha L., Potter, John D., Tsilidis, Kostas K., Schulze, Matthias B., Gunter, Marc J., Murphy, Neil, Castells, Antoni, Castellví-Bel, Sergi, Moreira, Leticia, Arndt, Volker, Shcherbina, Anna, Bishop, D. Timothy, Giles, Graham G., Southey, Melissa C., Idos, Gregory E., McDonnell, Kevin J., Abu-Ful, Zomoroda, Greenson, Joel K., Shulman, Katerina, Lejbkowicz, Flavio, Offit, Kenneth, Su, Yu-Ru, Steinfelder, Robert, Keku, Temitope O., van Guelpen, Bethany, Hudson, Thomas J., Hampel, Heather, Pearlman, Rachel, Berndt, Sonja I., Hayes, Richard B., Martinez, Marie Elena, Thomas, Sushma S., Pharoah, Paul D. P., Larsson, Susanna C., Yen, Yun, Lenz, Heinz-Josef, White, Emily, Li, Li, Doheny, Kimberly F., Pugh, Elizabeth, Shelford, Tameka, Chan, Andrew T., Cruz-Correa, Marcia, Lindblom, Annika, Hunter, David J., Joshi, Amit D., Schafmayer, Clemens, Scacheri, Peter C., Kundaje, Anshul, Schoen, Robert E., Hampe, Jochen, Stadler, Zsofia K., Vodicka, Pavel, Vodickova, Ludmila, Vymetalkova, Veronika, Edlund, Christopher K., Gauderman, W. James, Shibata, David, Toland, Amanda, Markowitz, Sanford, Kim, Andre, Chanock, Stephen J., van Duijnhoven, Franzel, Feskens, Edith J. M., Sakoda, Lori C., Gago-Dominguez, Manuela, Wolk, Alicja, Pardini, Barbara, FitzGerald, Liesel M., Lee, Soo Chin, Ogino, Shuji, Bien, Stephanie A., Kooperberg, Charles, Li, Christopher I., Lin, Yi, Prentice, Ross, Qu, Conghui, Bézieau, Stéphane, Yamaji, Taiki, Sawada, Norie, Iwasaki, Motoki, Le Marchand, Loic, Wu, Anna H., Qu, Chenxu, McNeil, Caroline E., Coetzee, Gerhard, Hayward, Caroline, Deary, Ian J., Harris, Sarah E., Theodoratou, Evropi, Reid, Stuart, Walker, Marion, Ooi, Li Yin, Lau, Ken S., Zhao, Hongyu, Hsu, Li, Cai, Qiuyin, Dunlop, Malcolm G., Gruber, Stephen B., Houlston, Richard S., Moreno, Victor, Casey, Graham, Peters, Ulrike, Tomlinson, Ian, and Zheng, Wei

Published
2024
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2. Benefits of nature-based walking for breast cancer survivors.

Author

Shirazipour, Celina H, Raines, Carolina, Liu, Eileen, Ruggieri, Rachel M, Capaldi, Jessica M, Luna-Lupercio, Bianca, Diniz, Marcio A, Gresham, Gillian, Bhowmick, Neil, Haile, Robert W, and Asher, Arash

Subjects
Humans, Breast Neoplasms, Walking, Pilot Projects, Quality of Life, Female, Biomarkers, Cancer Survivors, Breast tumours, MENTAL HEALTH, REHABILITATION MEDICINE, SPORTS MEDICINE, Prevention, Physical Rehabilitation, Clinical Research, Breast Cancer, Rehabilitation, Patient Safety, Cancer, Clinical Trials and Supportive Activities, Clinical Sciences, Public Health and Health Services, Other Medical and Health Sciences
Abstract

IntroductionPhysical activity (PA) promotes significant physical and psychosocial benefits for breast cancer survivors. While evidence exists regarding recommendations for the frequency, duration and intensity of exercise that optimise PA benefits for cancer survivors, the role of the environment in achieving optimal outcomes has yet to be determined. This paper presents a protocol for a clinical trial to evaluate the feasibility of a 3-month nature-based walking programme for breast cancer survivors. Secondary outcomes assessed include the impact of the intervention on fitness, quality of life outcomes, and biomarkers of ageing and inflammation.Methods and analysisThe trial is a 12-week single-arm pilot study. Twenty female breast cancer survivors will engage in a supervised moderate intensity walking intervention in small groups in a nature reserve for 50 minutes three times per week. Data will be collected at baseline and end of study, and include assessment of inflammatory cytokines and anti-inflammatory myokines (TNF-α, IL-1ß, IL-6, CRP, TGF-ß, IL-10, IL-13), as well as ageing (DNA methylation, ageing genes) biomarkers; surveys (Patient-Reported Outcomes Measurement Information System-29, Functional Assessment of Cancer Therapy-General, Post-Traumatic Growth Inventory); and fitness assessments (6 min Walk Test, Grip-Strength, One Repetition-Maximum Leg Press). Participants will also complete weekly surveys assessing social support and participate in an exit interview. This is an important first step for future research on the influence of exercise environment on cancer survivor PA outcomes.Ethics and disseminationThis study was approved by the Cedars Sinai Medical Center Institutional Review Board (IIT2020-20). Findings will be disseminated through academic manuscripts, conferences, and community presentations.Trial registration numberNCT04896580.

Published
2023

3. Combining Asian and European genome-wide association studies of colorectal cancer improves risk prediction across racial and ethnic populations

Author

Thomas, Minta, Su, Yu-Ru, Rosenthal, Elisabeth A., Sakoda, Lori C., Schmit, Stephanie L., Timofeeva, Maria N., Chen, Zhishan, Fernandez-Rozadilla, Ceres, Law, Philip J., Murphy, Neil, Carreras-Torres, Robert, Diez-Obrero, Virginia, van Duijnhoven, Franzel J. B., Jiang, Shangqing, Shin, Aesun, Wolk, Alicja, Phipps, Amanda I., Burnett-Hartman, Andrea, Gsur, Andrea, Chan, Andrew T., Zauber, Ann G., Wu, Anna H., Lindblom, Annika, Um, Caroline Y., Tangen, Catherine M., Gignoux, Chris, Newton, Christina, Haiman, Christopher A., Qu, Conghui, Bishop, D. Timothy, Buchanan, Daniel D., Crosslin, David R., Conti, David V., Kim, Dong-Hyun, Hauser, Elizabeth, White, Emily, Siegel, Erin, Schumacher, Fredrick R., Rennert, Gad, Giles, Graham G., Hampel, Heather, Brenner, Hermann, Oze, Isao, Oh, Jae Hwan, Lee, Jeffrey K., Schneider, Jennifer L., Chang-Claude, Jenny, Kim, Jeongseon, Huyghe, Jeroen R., Zheng, Jiayin, Hampe, Jochen, Greenson, Joel, Hopper, John L., Palmer, Julie R., Visvanathan, Kala, Matsuo, Keitaro, Matsuda, Koichi, Jung, Keum Ji, Li, Li, Le Marchand, Loic, Vodickova, Ludmila, Bujanda, Luis, Gunter, Marc J., Matejcic, Marco, Jenkins, Mark A., Slattery, Martha L., D’Amato, Mauro, Wang, Meilin, Hoffmeister, Michael, Woods, Michael O., Kim, Michelle, Song, Mingyang, Iwasaki, Motoki, Du, Mulong, Udaltsova, Natalia, Sawada, Norie, Vodicka, Pavel, Campbell, Peter T., Newcomb, Polly A., Cai, Qiuyin, Pearlman, Rachel, Pai, Rish K., Schoen, Robert E., Steinfelder, Robert S., Haile, Robert W., Vandenputtelaar, Rosita, Prentice, Ross L., Küry, Sébastien, Castellví-Bel, Sergi, Tsugane, Shoichiro, Berndt, Sonja I., Lee, Soo Chin, Brezina, Stefanie, Weinstein, Stephanie J., Chanock, Stephen J., Jee, Sun Ha, Kweon, Sun-Seog, Vadaparampil, Susan, Harrison, Tabitha A., Yamaji, Taiki, Keku, Temitope O., Vymetalkova, Veronika, Arndt, Volker, Jia, Wei-Hua, Shu, Xiao-Ou, Lin, Yi, Ahn, Yoon-Ok, Stadler, Zsofia K., Van Guelpen, Bethany, Ulrich, Cornelia M., Platz, Elizabeth A., Potter, John D., Li, Christopher I., Meester, Reinier, Moreno, Victor, Figueiredo, Jane C., Casey, Graham, Lansdorp Vogelaar, Iris, Dunlop, Malcolm G., Gruber, Stephen B., Hayes, Richard B., Pharoah, Paul D. P., Houlston, Richard S., Jarvik, Gail P., Tomlinson, Ian P., Zheng, Wei, Corley, Douglas A., Peters, Ulrike, and Hsu, Li

Published
2023
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4. Mortality by age, gene and gender in carriers of pathogenic mismatch repair gene variants receiving surveillance for early cancer diagnosis and treatment: a report from the prospective Lynch syndrome database

Author

Dominguez-Valentin, Mev, Haupt, Saskia, Seppälä, Toni T., Sampson, Julian R., Sunde, Lone, Bernstein, Inge, Jenkins, Mark A., Engel, Christoph, Aretz, Stefan, Nielsen, Maartje, Capella, Gabriel, Balaguer, Francesc, Evans, Dafydd Gareth, Burn, John, Holinski-Feder, Elke, Bertario, Lucio, Bonanni, Bernardo, Lindblom, Annika, Levi, Zohar, Macrae, Finlay, Winship, Ingrid, Plazzer, John-Paul, Sijmons, Rolf, Laghi, Luigi, Della Valle, Adriana, Heinimann, Karl, Dębniak, Tadeusz, Fruscio, Robert, Lopez-Koestner, Francisco, Alvarez-Valenzuela, Karin, Katz, Lior H., Laish, Ido, Vainer, Elez, Vaccaro, Carlos, Carraro, Dirce Maria, Monahan, Kevin, Half, Elizabeth, Stakelum, Aine, Winter, Des, Kennelly, Rory, Gluck, Nathan, Sheth, Harsh, Abu-Freha, Naim, Greenblatt, Marc, Rossi, Benedito Mauro, Bohorquez, Mabel, Cavestro, Giulia Martina, Lino-Silva, Leonardo S., Horisberger, Karoline, Tibiletti, Maria Grazia, Nascimento, Ivana do, Thomas, Huw, Rossi, Norma Teresa, Apolinário da Silva, Leandro, Zaránd, Attila, Ruiz-Bañobre, Juan, Heuveline, Vincent, Mecklin, Jukka-Pekka, Pylvänäinen, Kirsi, Renkonen-Sinisalo, Laura, Lepistö, Anna, Peltomäki, Päivi, Therkildsen, Christina, Madsen, Mia Gebauer, Burgdorf, Stefan Kobbelgaard, Hopper, John L., Win, Aung Ko, Haile, Robert W., Lindor, Noralane, Gallinger, Steven, Le Marchand, Loïc, Newcomb, Polly A., Figueiredo, Jane, Buchanan, Daniel D., Thibodeau, Stephen N., von Knebel Doeberitz, Magnus, Loeffler, Markus, Rahner, Nils, Schröck, Evelin, Steinke-Lange, Verena, Schmiegel, Wolff, Vangala, Deepak, Perne, Claudia, Hüneburg, Robert, Redler, Silke, Büttner, Reinhard, Weitz, Jürgen, Pineda, Marta, Duenas, Nuria, Vidal, Joan Brunet, Moreira, Leticia, Sánchez, Ariadna, Hovig, Eivind, Nakken, Sigve, Green, Kate, Lalloo, Fiona, Hill, James, Crosbie, Emma, Mints, Miriam, Goldberg, Yael, Tjandra, Douglas, ten Broeke, Sanne W., Kariv, Revital, Rosner, Guy, Advani, Suresh H., Thomas, Lidiya, Shah, Pankaj, Shah, Mithun, Neffa, Florencia, Esperon, Patricia, Pavicic, Walter, Torrezan, Giovana Tardin, Bassaneze, Thiago, Martin, Claudia Alejandra, Moslein, Gabriela, and Moller, Pål

Published
2023
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5. Endoscopic History and Provider Characteristics Influence Gastric Cancer Survival in Asian Americans

Author

Jeon, Christie Y, Lin, Yu-Chen, Klempner, Samuel J, Wu, Bechien U, Kim, Sungjin, Waters, Kevin M, and Haile, Robert W

Subjects
Biomedical and Clinical Sciences, Clinical Sciences, Digestive Diseases, Cancer, Prevention, Rare Diseases, Clinical Research, Health Services, Oral and gastrointestinal, Aged, Aged, 80 and over, Asian, Carcinoma, Female, Gastroscopy, Healthcare Disparities, Humans, Male, Mass Screening, Medicare, Neoplasm Staging, Physicians, Primary Care, Poverty, Referral and Consultation, SEER Program, Stomach, Stomach Neoplasms, United States, Oncology and Carcinogenesis, Oncology & Carcinogenesis, Clinical sciences, Oncology and carcinogenesis
Abstract

Gastric carcinoma (GC) disproportionately affects Asian Americans. We examined whether history of upper gastrointestinal (GI) endoscopy was associated with lower stage at GC diagnosis among Asian Americans and whether origin of providers influenced referral for endoscopy. We employed Surveillance Epidemiology and End Results-Medicare data on Asian Americans diagnosed with GC in 2004-2013 (n = 1,554). Stage distribution, GI conditions at diagnosis, and history of endoscopy were compared between Asian ethnic groups. Multivariate logistic regression adjusting for age, sex, poverty level, tumor location, and histology was used to examine the association of ethnicity and endoscopic history with stage I disease at diagnosis of GC. Koreans were more likely to be diagnosed with stage I, T1a GC and have prior history of endoscopy, compared with other Asian ethnicities (24% vs. 8% for stage I, T1a; 40% vs. 15% for endoscopy). Patients with primary care providers of concordant ethnic origin were more likely to have history of endoscopy. Asian American patients with GC with history of endoscopy were more likely to be diagnosed with GC at stage I disease (adjusted OR, 3.07; 95% confidence interval, 2.34-4.02). Compared with other Asian Americans, Koreans were diagnosed with GC at earlier stages owing to common history of endoscopy, which was more often undergone by patients with primary care providers of concordant ethnic origin. Overall, upper GI endoscopy was associated with early detection of GC in Asian Americans. Novelty and Impact. It is well-established that Asian Americans in the United States are disproportionately affected by gastric cancer. In our study we found that Asian American patients treated by physicians of similar ethnic background are more likely to undergo upper GI endoscopy in the United States, leading to early detection of gastric cancer and longer survival. Given this, targeted endoscopic screening in Asian Americans should be considered for early detection of GC.

Published
2020

6. Potential impact of family history–based screening guidelines on the detection of early‐onset colorectal cancer

Author

Gupta, Samir, Bharti, Balambal, Ahnen, Dennis J, Buchanan, Daniel D, Cheng, Iona C, Cotterchio, Michelle, Figueiredo, Jane C, Gallinger, Steven J, Haile, Robert W, Jenkins, Mark A, Lindor, Noralane M, Macrae, Finlay A, Le Marchand, Loïc, Newcomb, Polly A, Thibodeau, Stephen N, Win, Aung Ko, and Martinez, Maria Elena

Subjects
Prevention, Cancer, Health Services, Digestive Diseases, Aging, Clinical Research, Colo-Rectal Cancer, 4.2 Evaluation of markers and technologies, Detection, screening and diagnosis, 4.4 Population screening, Adult, Age Factors, Age of Onset, Case-Control Studies, Colorectal Neoplasms, Early Detection of Cancer, Family Health, Female, Humans, Male, Middle Aged, Practice Guidelines as Topic, Retrospective Studies, Sensitivity and Specificity, case-control study, family history, guidelines, sensitivity, specificity, young-onset colorectal cancer, Oncology and Carcinogenesis, Public Health and Health Services, Oncology & Carcinogenesis
Abstract

BackgroundInitiating screening at an earlier age based on cancer family history is one of the primary recommended strategies for the prevention and detection of early-onset colorectal cancer (EOCRC), but data supporting the effectiveness of this approach are limited. The authors assessed the performance of family history-based guidelines for identifying individuals with EOCRC.MethodsThe authors conducted a population-based, case-control study of individuals aged 40 to 49 years with (2473 individuals) and without (772 individuals) incident CRC in the Colon Cancer Family Registry from 1998 through 2007. They estimated the sensitivity and specificity of family history-based criteria jointly recommended by the American Cancer Society, the US Multi-Society Task Force on CRC, and the American College of Radiology in 2008 for early screening, and the age at which each participant could have been recommended screening initiation if these criteria had been applied.ResultsFamily history-based early screening criteria were met by approximately 25% of cases (614 of 2473 cases) and 10% of controls (74 of 772 controls), with a sensitivity of 25% and a specificity of 90% for identifying EOCRC cases aged 40 to 49 years. Among 614 individuals meeting early screening criteria, 98.4% could have been recommended screening initiation at an age younger than the observed age of diagnosis.ConclusionsOf CRC cases aged 40 to 49 years, 1 in 4 met family history-based early screening criteria, and nearly all cases who met these criteria could have had CRC diagnosed earlier (or possibly even prevented) if earlier screening had been implemented as per family history-based guidelines. Additional strategies are needed to improve the detection and prevention of EOCRC for individuals not meeting family history criteria for early screening.

Published
2020

7. Impaired Immune Health in Survivors of Diffuse Large B-Cell Lymphoma.

Author

Shree, Tanaya, Li, Qian, Glaser, Sally L, Brunson, Ann, Maecker, Holden T, Haile, Robert W, Levy, Ronald, and Keegan, Theresa HM

Subjects
Clinical Research, Prevention, Rare Diseases, Hematology, Cancer, Lymphoma, Good Health and Well Being, Adolescent, Adult, Cancer Survivors, Cohort Studies, Female, Humans, Lymphoma, Large B-Cell, Diffuse, Male, Middle Aged, Retrospective Studies, Young Adult, Clinical Sciences, Oncology and Carcinogenesis, Oncology & Carcinogenesis
Abstract

PurposeTherapeutic advances for diffuse large B-cell lymphoma (DLBCL) have led to an increasing number of survivors. Both DLBCL and its treatments perturb the immune system, yet little is known about immune health during extended survivorship.MethodsIn this retrospective cohort study, we compared 21,690 survivors of DLBCL from the California Cancer Registry (CCR) to survivors of breast, prostate, head and neck, and melanoma cancers. We linked their CCR records to a statewide database documenting hospital, emergency room, and ambulatory surgery visits and investigated the incidence of autoimmune conditions, immune deficiencies, and infections 1-10 years after cancer diagnosis.ResultsWe found elevated incidence rate ratios (IRRs) for many immune-related conditions in survivors of DLBCL compared with other cancer survivors, including significantly and consistently elevated IRRs for viral and fungal pneumonias (up to 10.8-fold), meningitis (up to 5.3-fold), as well as humoral deficiency (up to 17.6-fold) and autoimmune cytopenias (up to 12-fold). IRRs for most conditions remained high even in the late survivorship period (5-10 years after cancer diagnosis). The elevated risks could not be explained by exposure to chemotherapy, stem-cell transplantation, or rituximab, except for IRRs for humoral deficiency, which were consistently higher after the incorporation of rituximab into DLBCL treatments.ConclusionTo our knowledge, this is the largest cohort study with extended follow-up to demonstrate impaired immune health in survivors of DLBCL. The observed persistent, elevated risks for autoimmune diseases, immune deficiencies, and infectious conditions may reflect persistent immune dysregulation caused by lymphoma or treatment and may lead to excess morbidity and mortality during survivorship. Improved understanding of these risks could meaningfully improve long-term care of patients with DLBCL.

Published
2020

8. Methylated SEPTIN9 plasma test for colorectal cancer detection may be applicable to Lynch syndrome

Author

Hitchins, Megan P, Vogelaar, Ingrid P, Brennan, Kevin, Haraldsdottir, Sigurdis, Zhou, Nianmin, Martin, Brock, Alvarez, Rocio, Yuan, Xiaopu, Kim, Sungjin, Guindi, Maha, Hendifar, Andrew E, Kalady, Matthew F, DeVecchio, Jennifer, Church, James M, de la Chapelle, Albert, Hampel, Heather, Pearlman, Rachel, Christensen, Maria, Snyder, Carrie, Lanspa, Stephen J, Haile, Robert W, and Lynch, Henry T

Subjects
Public Health, Biomedical and Clinical Sciences, Clinical Sciences, Health Sciences, Cancer, Rare Diseases, Clinical Research, Colo-Rectal Cancer, Prevention, Digestive Diseases, Genetics, Genetic Testing, Detection, screening and diagnosis, 4.1 Discovery and preclinical testing of markers and technologies, 4.2 Evaluation of markers and technologies, SEPTIN9, circulating tumor dna, colorectal cancer, lynch syndrome, plasma, Clinical sciences, Public health
Abstract

ObjectiveThe plasma-based methylated SEPTIN9 (mSEPT9) is a colorectal cancer (CRC) screening test for adults aged 50-75 years who are at average risk for CRC and have refused colonoscopy or faecal-based screening tests. The applicability of mSEPT9 for high-risk persons with Lynch syndrome (LS), the most common hereditary CRC condition, has not been assessed. This study sought preliminary evidence for the utility of mSEPT9 for CRC detection in LS.DesignFirstly, SEPT9 methylation was measured in LS-associated CRC, advanced adenoma, and subject-matched normal colorectal mucosa tissues by pyrosequencing. Secondly, to detect mSEPT9 as circulating tumor DNA, the plasma-based mSEPT9 test was retrospectively evaluated in LS subjects using the Epi proColon 2.0 CE assay adapted for 1mL plasma using the "1/1 algorithm". LS case groups included 20 peri-surgical cases with acolonoscopy-based diagnosis of CRC (stages I-IV), 13 post-surgical metastatic CRC, and 17 pre-diagnosis cases. The control group comprised 31 cancer-free LS subjects.ResultsDifferential hypermethylation was found in 97.3% (36/37) of primary CRC and 90.0% (18/20) of advanced adenomas, showing LS-associated neoplasia frequently produce the mSEPT9 biomarker. Sensitivity of plasma mSEPT9 to detect CRC was 70.0% (95% CI, 48%-88%)in cases with a colonoscopy-based CRC diagnosis and 92.3% (95% CI, 64%-100%) inpost-surgical metastatic cases. In pre-diagnosis cases, plasma mSEPT9 was detected within two months prior to colonoscopy-based CRC diagnosis in 3/5 cases. Specificity in controls was 100% (95% CI 89%-100%).ConclusionThese preliminary findings suggest mSEPT9 may demonstrate similar diagnostic performance characteristics in LS as in the average-risk population, warranting a well-powered prospective case-control study.

Published
2019

9. Continued Increase in Melanoma Incidence across all Socioeconomic Status Groups in California, 1998–2012

Author

Clarke, Christina A, McKinley, Meg, Hurley, Susan, Haile, Robert W, Glaser, Sally L, Keegan, Theresa HM, and Swetter, Susan M

Subjects
Biomedical and Clinical Sciences, Clinical Sciences, Cancer, Behavioral and Social Science, Basic Behavioral and Social Science, Adult, Aged, Asian, California, Early Detection of Cancer, Ethnicity, Female, Health Services Accessibility, Hispanic or Latino, Humans, Incidence, Male, Melanoma, Middle Aged, Needs Assessment, Registries, Retrospective Studies, Risk Assessment, SEER Program, Skin Neoplasms, Socioeconomic Factors, White People, Oncology and Carcinogenesis, Dermatology & Venereal Diseases, Clinical sciences
Abstract

Melanoma incidence has been increasing in light-skinned populations worldwide, but the reasons for the increase have been controversial. Our prior assessment in California non-Hispanic whites showed substantial increases in invasive melanoma incidence for tumors of all thicknesses in all neighborhoods categorized by socioeconomic status (SES) between 1988-1992 and 1998-2002. To understand whether these trends continued, we updated our assessment to include the diagnosis period 2008-2012 and more accurate pathologic stage at diagnosis. We used the California Cancer Registry to calculate age-adjusted incidence rates for over 58,000 newly diagnosed melanomas. Incidence rates not only continued to rise over the 10-year period from 1998-2002 and 2008-2012 but also showed significant increases in almost all groups defined jointly by tumor thickness or stage at diagnosis and a small area (census tract) SES measure. The largest relative rate increases were seen for regional, distant, and ulcerated disease, especially among males living in the lowest SES neighborhoods. Considering tumor thickness and stage as proxies for time to screening detection and neighborhood SES as a proxy for health care access, we interpret this pattern to indicate continued, true increases in melanoma occurrence as opposed to a thin tumor phenomenon simply driven by improved access to care.

Published
2017

10. Variation in the risk of colorectal cancer in families with Lynch syndrome: a retrospective cohort study

Author

Win, Aung Ko, Dowty, James G., Reece, Jeanette C., Lee, Grant, Templeton, Allyson S., Plazzer, John-Paul, Buchanan, Daniel D., Akagi, Kiwamu, Aksoy, Seçil, Alonso, Angel, Alvarez, Karin, Amor, David J., Ankathil, Ravindran, Aretz, Stefan, Arnold, Julie L., Aronson, Melyssa, Austin, Rachel, Backman, Ann-Sofie, Bajwa-ten Broeke, Sanne W., Barca-Tierno, Verónica, Barwell, Julian, Bernstein, Inge, Berthet, Pascaline, Betz, Beate, Bignon, Yves-Jean, Boisjoli, Talya, Bonadona, Valérie, Briollais, Laurent, Brunet, Joan, Bucksch, Karolin, Buecher, Bruno, Buettner, Reinhard, Burn, John, Caldés, Trinidad, Capella, Gabriel, Caron, Olivier, Casey, Graham, Chew, Min H., Choi, Yun-hee, Church, James, Clendenning, Mark, Colas, Chrystelle, Cops, Elisa J., Coupier, Isabelle, Cruz-Correa, Marcia, de la Chapelle, Albert, de Wind, Niels, Dębniak, Tadeusz, Della Valle, Adriana, Delnatte, Capuccine, Dhooge, Marion, Dominguez-Valentin, Mev, Drouet, Youenn, Duijkers, Floor A., Engel, Christoph, Esperon, Patricia, Evans, D. Gareth, Falcón de Vargas, Aída, Figueiredo, Jane C, Foulkes, William, Fourme, Emmanuelle, Frebourg, Thierry, Gallinger, Steven, Garre, Pilar, Genuardi, Maurizio, Gerdes, Anne-Marie, Gima, Lauren M., Giraud, Sophie, Goodwin, Annabel, Görgens, Heike, Green, Kate, Guillem, Jose, Guillén-Ponce, Carmen, Guimbaud, Roselyne, Guindalini, Rodrigo S.C., Half, Elizabeth E., Hall, Michael J, Hampel, Heather, Hansen, Thomas V.O., Heinimann, Karl, Hes, Frederik J., Hill, James, Ho, Judy W.C., Holinski-Feder, Elke, Hoogerbrugge, Nicoline, Hüneburg, Robert, Huntley, Vanessa, James, Paul A., Jensen, Uffe B, John, Thomas, Juhari, Wan K.W., Kalady, Matthew, Kastrinos, Fay, Kloor, Matthias, Kohonen-Corish, Maija RJ, Krogh, Lotte N., Kupfer, Sonia S., Ladabaum, Uri, Lagerstedt-Robinson, Kristina, Lalloo, Fiona, Lasset, Christine, Latchford, Andrew, Laurent-Puig, Pierre, Lautrup, Charlotte K., Leggett, Barbara A., Lejeune, Sophie, LeMarchand, Loic, Ligtenberg, Marjolijn, Lindor, Noralane, Loeffler, Markus, Longy, Michel, Lopez, Francisco, Lowery, Jan, Lubiński, Jan, Lucassen, Anneke M, Lynch, Patrick M., Malińska, Karolina, Matsubara, Nagahide, Mecklin, Jukka-Pekka, Møller, Pål, Monahan, Kevin, Morrison, Patrick J., Nattermann, Jacob, Navarro, Matilde, Neffa, Florencia, Neklason, Deborah, Newcomb, Polly A., Ngeow, Joanne, Nichols, Cassandra, Nielsen, Maartje, Nixon, Dawn M., Nogues, Catherine, Okkels, Henrik, Olschwang, Sylviane, Pachter, Nicholas, Pai, Rish K., Palmero, Edenir I., Pande, Mala, Parry, Susan, Patel, Swati G., Pearlman, Rachel, Perne, Claudia, Pineda, Marta, Poplawski, Nicola K, Pylvänäinen, Kirsi, Qiu, Jay, Rahner, Nils, Ramesar, Raj, Rasmussen, Lene J., Redler, Silke, Reis, Rui M., Ricciardiello, Luigi, Rogoża-Janiszewska, Emilia, Rosty, Christophe, Samadder, N. Jewel, Sampson, Julian R., Schackert, Hans K., Schmiegel, Wolff, Schulmann, Karsten, Schuster, Helène, Scott, Rodney, Senter, Leigha, Seppälä, Toni T, Shtoyerman, Rakefet, Sijmons, Rolf H., Snyder, Carrie, Solomon, Ilana B., Soto, Jose Luis, Southey, Melissa C., Spigelman, Allan, Spirandelli, Florencia, Spurdle, Amanda B., Steinke-Lange, Verena, Stoffel, Elena M., Strassburg, Christian P., Sunde, Lone, Susman, Rachel, Syngal, Sapna, Tanakaya, Kohji, Tezcan, Gülçin, Therkildsen, Christina, Thibodeau, Steve, Tomita, Naohiro, Tucker, Katherine M., Tunca, Berrin, Turchetti, Daniela, Uhrhammer, Nancy, Utsunomiya, Joji, Vaccaro, Carlos, van Duijnhoven, Fränzel J.B., van Wanzeele, Meghan J., Vangala, Deepak B., Vasen, Hans F.A., von Knebel Doeberitz, Magnus, von Salomé, Jenny, Wadt, Karin A.W., Ward, Robyn L., Weitz, Jürgen, Weitzel, Jeffrey N., Williams, Heinric, Winship, Ingrid, Wise, Paul E., Wods, Julie, Woods, Michael O., Yamaguchi, Tatsuro, Zachariae, Silke, Zahary, Mohd N., Hopper, John L., Haile, Robert W., Macrae, Finlay A., Möslein, Gabriela, and Jenkins, Mark A.

Published
2021
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11. Risk-reducing hysterectomy and bilateral salpingo-oophorectomy in female heterozygotes of pathogenic mismatch repair variants: a Prospective Lynch Syndrome Database report

Author

Dominguez-Valentin, Mev, Crosbie, Emma J., Engel, Christoph, Aretz, Stefan, Macrae, Finlay, Winship, Ingrid, Capella, Gabriel, Thomas, Huw, Nakken, Sigve, Hovig, Eivind, Nielsen, Maartje, Sijmons, Rolf H., Bertario, Lucio, Bonanni, Bernardo, Tibiletti, Maria Grazia, Cavestro, Giulia Martina, Mints, Miriam, Gluck, Nathan, Katz, Lior, Heinimann, Karl, Vaccaro, Carlos A., Green, Kate, Lalloo, Fiona, Hill, James, Schmiegel, Wolff, Vangala, Deepak, Perne, Claudia, Strauß, Hans-Georg, Tecklenburg, Johanna, Holinski-Feder, Elke, Steinke-Lange, Verena, Mecklin, Jukka-Pekka, Plazzer, John-Paul, Pineda, Marta, Navarro, Matilde, Vidal, Joan Brunet, Kariv, Revital, Rosner, Guy, Piñero, Tamara Alejandra, Gonzalez, María Laura, Kalfayan, Pablo, Ryan, Neil, ten Broeke, Sanne W., Jenkins, Mark A., Sunde, Lone, Bernstein, Inge, Burn, John, Greenblatt, Marc, de Vos tot Nederveen Cappel, Wouter H., Della Valle, Adriana, Lopez-Koestner, Francisco, Alvarez, Karin, Büttner, Reinhard, Görgens, Heike, Morak, Monika, Holzapfel, Stefanie, Hüneburg, Robert, von Knebel Doeberitz, Magnus, Loeffler, Markus, Rahner, Nils, Weitz, Jürgen, Pylvänäinen, Kirsi, Renkonen-Sinisalo, Laura, Lepistö, Anna, Auranen, Annika, Hopper, John L., Win, Aung Ko, Haile, Robert W., Lindor, Noralane M., Gallinger, Steven, Le Marchand, Loïc, Newcomb, Polly A., Figueiredo, Jane C., Thibodeau, Stephen N., Therkildsen, Christina, Okkels, Henrik, Ketabi, Zohreh, Denton, Oliver G., Rødland, Einar Andreas, Vasen, Hans, Neffa, Florencia, Esperon, Patricia, Tjandra, Douglas, Möslein, Gabriela, Sampson, Julian R., Evans, D. Gareth, Seppälä, Toni T., and Møller, Pål

Published
2021
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12. Meta-analysis of genome-wide association studies identifies common susceptibility polymorphisms for colorectal and endometrial cancer near SH2B3 and TSHZ1.

Author

Cheng, Timothy HT, Thompson, Deborah, Painter, Jodie, O'Mara, Tracy, Gorman, Maggie, Martin, Lynn, Palles, Claire, Jones, Angela, Buchanan, Daniel D, Win, Aung Ko, Hopper, John, Jenkins, Mark, Lindor, Noralane M, Newcomb, Polly A, Gallinger, Steve, Conti, David, Schumacher, Fred, Casey, Graham, Giles, Graham G, Pharoah, Paul, Peto, Julian, Cox, Angela, Swerdlow, Anthony, Couch, Fergus, Cunningham, Julie M, Goode, Ellen L, Winham, Stacey J, Lambrechts, Diether, Fasching, Peter, Burwinkel, Barbara, Brenner, Hermann, Brauch, Hiltrud, Chang-Claude, Jenny, Salvesen, Helga B, Kristensen, Vessela, Darabi, Hatef, Li, Jingmei, Liu, Tao, Lindblom, Annika, Hall, Per, de Polanco, Magdalena Echeverry, Sans, Monica, Carracedo, Angel, Castellvi-Bel, Sergi, Rojas-Martinez, Augusto, Aguiar Jnr, Samuel, Teixeira, Manuel R, Dunning, Alison M, Dennis, Joe, Otton, Geoffrey, Proietto, Tony, Holliday, Elizabeth, Attia, John, Ashton, Katie, Scott, Rodney J, McEvoy, Mark, Dowdy, Sean C, Fridley, Brooke L, Werner, Henrica MJ, Trovik, Jone, Njolstad, Tormund S, Tham, Emma, Mints, Miriam, Runnebaum, Ingo, Hillemanns, Peter, Dörk, Thilo, Amant, Frederic, Schrauwen, Stefanie, Hein, Alexander, Beckmann, Matthias W, Ekici, Arif, Czene, Kamila, Meindl, Alfons, Bolla, Manjeet K, Michailidou, Kyriaki, Tyrer, Jonathan P, Wang, Qin, Ahmed, Shahana, Healey, Catherine S, Shah, Mitul, Annibali, Daniela, Depreeuw, Jeroen, Al-Tassan, Nada A, Harris, Rebecca, Meyer, Brian F, Whiffin, Nicola, Hosking, Fay J, Kinnersley, Ben, Farrington, Susan M, Timofeeva, Maria, Tenesa, Albert, Campbell, Harry, Haile, Robert W, Hodgson, Shirley, Carvajal-Carmona, Luis, Cheadle, Jeremy P, Easton, Douglas, Dunlop, Malcolm, Houlston, Richard, and Spurdle, Amanda

Subjects
Humans, Colorectal Neoplasms, Endometrial Neoplasms, Genetic Predisposition to Disease, Intracellular Signaling Peptides and Proteins, Proteins, Homeodomain Proteins, Neoplasm Proteins, Polymorphism, Genetic, Alleles, Female, Male, Genome-Wide Association Study, Polymorphism, Genetic
Abstract

High-risk mutations in several genes predispose to both colorectal cancer (CRC) and endometrial cancer (EC). We therefore hypothesised that some lower-risk genetic variants might also predispose to both CRC and EC. Using CRC and EC genome-wide association series, totalling 13,265 cancer cases and 40,245 controls, we found that the protective allele [G] at one previously-identified CRC polymorphism, rs2736100 near TERT, was associated with EC risk (odds ratio (OR) = 1.08, P = 0.000167); this polymorphism influences the risk of several other cancers. A further CRC polymorphism near TERC also showed evidence of association with EC (OR = 0.92; P = 0.03). Overall, however, there was no good evidence that the set of CRC polymorphisms was associated with EC risk, and neither of two previously-reported EC polymorphisms was associated with CRC risk. A combined analysis revealed one genome-wide significant polymorphism, rs3184504, on chromosome 12q24 (OR = 1.10, P = 7.23 × 10(-9)) with shared effects on CRC and EC risk. This polymorphism, a missense variant in the gene SH2B3, is also associated with haematological and autoimmune disorders, suggesting that it influences cancer risk through the immune response. Another polymorphism, rs12970291 near gene TSHZ1, was associated with both CRC and EC (OR = 1.26, P = 4.82 × 10(-8)), with the alleles showing opposite effects on the risks of the two cancers.

Published
2015

13. Mutation Spectrum and Risk of Colorectal Cancer in African American Families with Lynch Syndrome

Author

Santa Cruz Guindalini, Rodrigo, Win, Aung Ko, Gulden, Cassandra, Lindor, Noralane M, Newcomb, Polly A, Haile, Robert W, Raymond, Victoria, Stoffel, Elena, Hall, Michael, Llor, Xavier, Ukaegbu, Chinedu I, Solomon, Ilana, Weitzel, Jeffrey, Kalady, Matthew, Blanco, Amie, Terdiman, Jonathan, Shuttlesworth, Gladis A, Lynch, Patrick M, Hampel, Heather, Lynch, Henry T, Jenkins, Mark A, Olopade, Olufunmilayo I, and Kupfer, Sonia S

Subjects
Biomedical and Clinical Sciences, Clinical Sciences, Nutrition and Dietetics, Digestive Diseases, Rare Diseases, Colo-Rectal Cancer, Cancer, Prevention, Clinical Research, Genetics, Genetic Testing, Aetiology, 2.1 Biological and endogenous factors, Adaptor Proteins, Signal Transducing, Adenosine Triphosphatases, Adult, Black or African American, Age Factors, Aged, Aged, 80 and over, Colorectal Neoplasms, Colorectal Neoplasms, Hereditary Nonpolyposis, DNA Mismatch Repair, DNA Repair Enzymes, DNA-Binding Proteins, Family, Female, Humans, Incidence, Male, Middle Aged, Mismatch Repair Endonuclease PMS2, MutL Protein Homolog 1, MutS Homolog 2 Protein, Mutation, Nuclear Proteins, Retrospective Studies, Risk Factors, Sex Factors, African Descent, Colon Cancer, DNA Repair, Hereditary Non-Polyposis Colorectal Cancer, Neurosciences, Paediatrics and Reproductive Medicine, Gastroenterology & Hepatology, Clinical sciences, Nutrition and dietetics
Abstract

Background & aimsAfrican Americans (AAs) have the highest incidence of and mortality resulting from colorectal cancer (CRC) in the United States. Few data are available on genetic and nongenetic risk factors for CRC among AAs. Little is known about cancer risks and mutations in mismatch repair (MMR) genes in AAs with the most common inherited CRC condition, Lynch syndrome. We aimed to characterize phenotype, mutation spectrum, and risk of CRC in AAs with Lynch syndrome.MethodsWe performed a retrospective study of AAs with mutations in MMR genes (MLH1, MSH2, MSH6, and PMS2) using databases from 13 US referral centers. We analyzed data on personal and family histories of cancer. Modified segregation analysis conditioned on ascertainment criteria was used to estimate age- and sex-specific CRC cumulative risk, studying members of the mutation-carrying families.ResultsWe identified 51 AA families with deleterious mutations that disrupt function of the MMR gene product: 31 in MLH1 (61%), 11 in MSH2 (21%), 3 in MSH6 (6%), and 6 in PMS2 (12%); 8 mutations were detected in more than 1 individual, and 11 have not been previously reported. In the 920 members of the 51 families with deleterious mutations, the cumulative risks of CRC at 80 years of age were estimated to be 36.2% (95% confidence interval [CI], 10.5%-83.9%) for men and 29.7% (95% CI, 8.31%-76.1%) for women. CRC risk was significantly higher among individuals with mutations in MLH1 or MSH2 (hazard ratio, 13.9; 95% CI, 3.44-56.5).ConclusionsWe estimate the cumulative risk for CRC in AAs with MMR gene mutations to be similar to that of individuals of European descent with Lynch syndrome. Two-thirds of mutations were found in MLH1, some of which were found in multiple individuals and some that have not been previously reported. Differences in mutation spectrum are likely to reflect the genetic diversity of this population.

Published
2015

14. Cancer risks by gene, age, and gender in 6350 carriers of pathogenic mismatch repair variants: findings from the Prospective Lynch Syndrome Database

Author

Dominguez-Valentin, Mev, Sampson, Julian R., Seppälä, Toni T., ten Broeke, Sanne W., Plazzer, John-Paul, Nakken, Sigve, Engel, Christoph, Aretz, Stefan, Jenkins, Mark A., Sunde, Lone, Bernstein, Inge, Capella, Gabriel, Balaguer, Francesc, Thomas, Huw, Evans, D. Gareth, Burn, John, Greenblatt, Marc, Hovig, Eivind, de Vos tot Nederveen Cappel, Wouter H., Sijmons, Rolf H., Bertario, Lucio, Tibiletti, Maria Grazia, Cavestro, Giulia Martina, Lindblom, Annika, Della Valle, Adriana, Lopez-Köstner, Francisco, Gluck, Nathan, Katz, Lior H., Heinimann, Karl, Vaccaro, Carlos A., Büttner, Reinhard, Görgens, Heike, Holinski-Feder, Elke, Morak, Monika, Holzapfel, Stefanie, Hüneburg, Robert, Knebel Doeberitz, Magnus von, Loeffler, Markus, Rahner, Nils, Schackert, Hans K., Steinke-Lange, Verena, Schmiegel, Wolff, Vangala, Deepak, Pylvänäinen, Kirsi, Renkonen-Sinisalo, Laura, Hopper, John L., Win, Aung Ko, Haile, Robert W., Lindor, Noralane M., Gallinger, Steven, Le Marchand, Loïc, Newcomb, Polly A., Figueiredo, Jane C., Thibodeau, Stephen N., Wadt, Karin, Therkildsen, Christina, Okkels, Henrik, Ketabi, Zohreh, Moreira, Leticia, Sánchez, Ariadna, Serra-Burriel, Miquel, Pineda, Marta, Navarro, Matilde, Blanco, Ignacio, Green, Kate, Lalloo, Fiona, Crosbie, Emma J., Hill, James, Denton, Oliver G., Frayling, Ian M., Rødland, Einar Andreas, Vasen, Hans, Mints, Miriam, Neffa, Florencia, Esperon, Patricia, Alvarez, Karin, Kariv, Revital, Rosner, Guy, Pinero, Tamara Alejandra, Gonzalez, María Laura, Kalfayan, Pablo, Tjandra, Douglas, Winship, Ingrid M., Macrae, Finlay, Möslein, Gabriela, Mecklin, Jukka-Pekka, Nielsen, Maartje, and Møller, Pål

Published
2020
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15. Identification of a common variant with potential pleiotropic effect on risk of inflammatory bowel disease and colorectal cancer

Author

Khalili, Hamed, Gong, Jian, Brenner, Hermann, Austin, Thomas R, Hutter, Carolyn M, Baba, Yoshifumi, Baron, John A, Berndt, Sonja I, Bézieau, Stéphane, Caan, Bette, Campbell, Peter T, Chang-Claude, Jenny, Chanock, Stephen J, Chen, Constance, Hsu, Li, Jiao, Shuo, Conti, David V, Duggan, David, Fuchs, Charles S, Gala, Manish, Gallinger, Steven, Haile, Robert W, Harrison, Tabitha A, Hayes, Richard, Hazra, Aditi, Henderson, Brian, Haiman, Chris, Hoffmeister, Michael, Hopper, John L, Jenkins, Mark A, Kolonel, Laurence N, Küry, Sébastien, LaCroix, Andrea, Le Marchand, Loic, Lemire, Mathieu, Lindor, Noralane M, Ma, Jing, Manson, JoAnn E, Morikawa, Teppei, Nan, Hongmei, Ng, Kimmie, Newcomb, Polly A, Nishihara, Reiko, Potter, John D, Qu, Conghui, Schoen, Robert E, Schumacher, Fredrick R, Seminara, Daniela, Taverna, Darin, Thibodeau, Stephen, Wactawski-Wende, Jean, White, Emily, Wu, Kana, Zanke, Brent W, Casey, Graham, Hudson, Thomas J, Kraft, Peter, Peters, Ulrike, Slattery, Martha L, Ogino, Shuji, and Chan, Andrew T

Subjects
Biomedical and Clinical Sciences, Oncology and Carcinogenesis, Inflammatory Bowel Disease, Digestive Diseases, Clinical Research, Cancer, Genetics, Human Genome, Prevention, Colo-Rectal Cancer, Autoimmune Disease, Crohn's Disease, Aetiology, 2.1 Biological and endogenous factors, Colitis, Ulcerative, Colorectal Neoplasms, Crohn Disease, Gene Frequency, Genetic Predisposition to Disease, Genome-Wide Association Study, Humans, Microsatellite Instability, Microsatellite Repeats, Polymorphism, Single Nucleotide, Risk, White People, GECCO and CCFR, Oncology & Carcinogenesis, Oncology and carcinogenesis
Abstract

Although genome-wide association studies (GWAS) have separately identified many genetic susceptibility loci for ulcerative colitis (UC), Crohn's disease (CD) and colorectal cancer (CRC), there has been no large-scale examination for pleiotropy, or shared genetic susceptibility, for these conditions. We used logistic regression modeling to examine the associations of 181 UC and CD susceptibility variants previously identified by GWAS with risk of CRC using data from the Genetics and Epidemiology of Colorectal Cancer Consortium and the Colon Cancer Family Registry. We also examined associations of significant variants with clinical and molecular characteristics in a subset of the studies. Among 11794 CRC cases and 14190 controls, rs11676348, the susceptibility single nucleotide polymorphism (SNP) for UC, was significantly associated with reduced risk of CRC (P = 7E-05). The multivariate-adjusted odds ratio of CRC with each copy of the T allele was 0.93 (95% CI 0.89-0.96). The association of the SNP with risk of CRC differed according to mucinous histological features (P heterogeneity = 0.008). In addition, the (T) allele was associated with lower risk of tumors with Crohn's-like reaction but not tumors without such immune infiltrate (P heterogeneity = 0.02) and microsatellite instability-high (MSI-high) but not microsatellite stable or MSI-low tumors (P heterogeneity = 0.03). The minor allele (T) in SNP rs11676348, located downstream from CXCR2 that has been implicated in CRC progression, is associated with a lower risk of CRC, particularly tumors with a mucinous component, Crohn's-like reaction and MSI-high. Our findings offer the promise of risk stratification of inflammatory bowel disease patients for complications such as CRC.

Published
2015

16. Type 2 diabetes mellitus, blood cholesterol, triglyceride and colorectal cancer risk in Lynch syndrome

Author

Dashti, S. Ghazaleh, Li, Wing Yan, Buchanan, Daniel D., Clendenning, Mark, Rosty, Christophe, Winship, Ingrid M., Macrae, Finlay A., Giles, Graham G., Hardikar, Sheetal, Hua, Xinwei, Thibodeau, Stephen N., Figueiredo, Jane C., Casey, Graham, Haile, Robert W., Gallinger, Steven, Le Marchand, Loïc, Newcomb, Polly A., Potter, John D., Lindor, Noralane M., Hopper, John L., Jenkins, Mark A., and Win, Aung Ko

Published
2019
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17. Ability of known susceptibility SNPs to predict colorectal cancer risk for persons with and without a family history

Author

Jenkins, Mark A., Win, Aung K., Dowty, James G., MacInnis, Robert J., Makalic, Enes, Schmidt, Daniel F., Dite, Gillian S., Kapuscinski, Mirosl, Clendenning, Mark, Rosty, Christophe, Winship, Ingrid M., Emery, Jon D., Saya, Sibel, Macrae, Finlay A., Ahnen, Dennis J., Duggan, David, Figueiredo, Jane C., Lindor, Noralane M., Haile, Robert W., Potter, John D., Cotterchio, Michelle, Gallinger, Steven, Newcomb, Polly A., Buchanan, Daniel D., Casey, Graham, and Hopper, John L.

Published
2019
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18. Methodological Issues in Multistage Genome-Wide Association Studies

Author

Thomas, Duncan C., Casey, Graham, Conti, David V., Haile, Robert W., Lewinger, Juan Pablo, and Stram, Daniel O.

Subjects
Statistics - Methodology, Quantitative Biology - Genomics
Abstract

Because of the high cost of commercial genotyping chip technologies, many investigations have used a two-stage design for genome-wide association studies, using part of the sample for an initial discovery of ``promising'' SNPs at a less stringent significance level and the remainder in a joint analysis of just these SNPs using custom genotyping. Typical cost savings of about 50% are possible with this design to obtain comparable levels of overall type I error and power by using about half the sample for stage I and carrying about 0.1% of SNPs forward to the second stage, the optimal design depending primarily upon the ratio of costs per genotype for stages I and II. However, with the rapidly declining costs of the commercial panels, the generally low observed ORs of current studies, and many studies aiming to test multiple hypotheses and multiple endpoints, many investigators are abandoning the two-stage design in favor of simply genotyping all available subjects using a standard high-density panel. Concern is sometimes raised about the absence of a ``replication'' panel in this approach, as required by some high-profile journals, but it must be appreciated that the two-stage design is not a discovery/replication design but simply a more efficient design for discovery using a joint analysis of the data from both stages. Once a subset of highly-significant associations has been discovered, a truly independent ``exact replication'' study is needed in a similar population of the same promising SNPs using similar methods., Comment: Published in at http://dx.doi.org/10.1214/09-STS288 the Statistical Science (http://www.imstat.org/sts/) by the Institute of Mathematical Statistics (http://www.imstat.org)

Published
2010
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20. Identification of Genetic Susceptibility Loci for Colorectal Tumors in a Genome-Wide Meta-analysis

Author

Peters, Ulrike, Jiao, Shuo, Schumacher, Fredrick R, Hutter, Carolyn M, Aragaki, Aaron K, Baron, John A, Berndt, Sonja I, Bézieau, Stéphane, Brenner, Hermann, Butterbach, Katja, Caan, Bette J, Campbell, Peter T, Carlson, Christopher S, Casey, Graham, Chan, Andrew T, Chang–Claude, Jenny, Chanock, Stephen J, Chen, Lin S, Coetzee, Gerhard A, Coetzee, Simon G, Conti, David V, Curtis, Keith R, Duggan, David, Edwards, Todd, Fuchs, Charles S, Gallinger, Steven, Giovannucci, Edward L, Gogarten, Stephanie M, Gruber, Stephen B, Haile, Robert W, Harrison, Tabitha A, Hayes, Richard B, Henderson, Brian E, Hoffmeister, Michael, Hopper, John L, Hudson, Thomas J, Hunter, David J, Jackson, Rebecca D, Jee, Sun Ha, Jenkins, Mark A, Jia, Wei–Hua, Kolonel, Laurence N, Kooperberg, Charles, Küry, Sébastien, LaCroix, Andrea Z, Laurie, Cathy C, Laurie, Cecelia A, Le Marchand, Loic, Lemire, Mathieu, Levine, David, Lindor, Noralane M, Liu, Yan, Ma, Jing, Makar, Karen W, Matsuo, Keitaro, Newcomb, Polly A, Potter, John D, Prentice, Ross L, Qu, Conghui, Rohan, Thomas, Rosse, Stephanie A, Schoen, Robert E, Seminara, Daniela, Shrubsole, Martha, Shu, Xiao–Ou, Slattery, Martha L, Taverna, Darin, Thibodeau, Stephen N, Ulrich, Cornelia M, White, Emily, Xiang, Yongbing, Zanke, Brent W, Zeng, Yi–Xin, Zhang, Ben, Zheng, Wei, Hsu, Li, and Registry, Genetics and Epidemiology of Colorectal Cancer Consortium Colon Cancer Family

Subjects
Biomedical and Clinical Sciences, Clinical Sciences, Nutrition and Dietetics, Digestive Diseases, Prevention, Genetics, Cancer, Colo-Rectal Cancer, Human Genome, Aetiology, 2.1 Biological and endogenous factors, Age Distribution, Aged, Aged, 80 and over, Colorectal Neoplasms, Cyclin D2, DNA-Binding Proteins, Female, Genetic Loci, Genetic Predisposition to Disease, Genome-Wide Association Study, Humans, Incidence, Laminin, Male, Middle Aged, Polymorphism, Single Nucleotide, Prognosis, Risk Assessment, Sex Distribution, T-Box Domain Proteins, Colon Cancer Family Registry and the Genetics and Epidemiology of Colorectal Cancer Consortium, Neurosciences, Paediatrics and Reproductive Medicine, Gastroenterology & Hepatology, Clinical sciences, Nutrition and dietetics
Abstract

Background & aimsHeritable factors contribute to the development of colorectal cancer. Identifying the genetic loci associated with colorectal tumor formation could elucidate the mechanisms of pathogenesis.MethodsWe conducted a genome-wide association study that included 14 studies, 12,696 cases of colorectal tumors (11,870 cancer, 826 adenoma), and 15,113 controls of European descent. The 10 most statistically significant, previously unreported findings were followed up in 6 studies; these included 3056 colorectal tumor cases (2098 cancer, 958 adenoma) and 6658 controls of European and Asian descent.ResultsBased on the combined analysis, we identified a locus that reached the conventional genome-wide significance level at less than 5.0 × 10(-8): an intergenic region on chromosome 2q32.3, close to nucleic acid binding protein 1 (most significant single nucleotide polymorphism: rs11903757; odds ratio [OR], 1.15 per risk allele; P = 3.7 × 10(-8)). We also found evidence for 3 additional loci with P values less than 5.0 × 10(-7): a locus within the laminin gamma 1 gene on chromosome 1q25.3 (rs10911251; OR, 1.10 per risk allele; P = 9.5 × 10(-8)), a locus within the cyclin D2 gene on chromosome 12p13.32 (rs3217810 per risk allele; OR, 0.84; P = 5.9 × 10(-8)), and a locus in the T-box 3 gene on chromosome 12q24.21 (rs59336; OR, 0.91 per risk allele; P = 3.7 × 10(-7)).ConclusionsIn a large genome-wide association study, we associated polymorphisms close to nucleic acid binding protein 1 (which encodes a DNA-binding protein involved in DNA repair) with colorectal tumor risk. We also provided evidence for an association between colorectal tumor risk and polymorphisms in laminin gamma 1 (this is the second gene in the laminin family to be associated with colorectal cancers), cyclin D2 (which encodes for cyclin D2), and T-box 3 (which encodes a T-box transcription factor and is a target of Wnt signaling to β-catenin). The roles of these genes and their products in cancer pathogenesis warrant further investigation.

Published
2013

21. Discovery of common and rare genetic risk variants for colorectal cancer

Author

Huyghe, Jeroen R., Bien, Stephanie A., Harrison, Tabitha A., Kang, Hyun Min, Chen, Sai, Schmit, Stephanie L., Conti, David V., Qu, Conghui, Jeon, Jihyoun, Edlund, Christopher K., Greenside, Peyton, Wainberg, Michael, Schumacher, Fredrick R., Smith, Joshua D., Levine, David M., Nelson, Sarah C., Sinnott-Armstrong, Nasa A., Albanes, Demetrius, Alonso, M. Henar, Anderson, Kristin, Arnau-Collell, Coral, Arndt, Volker, Bamia, Christina, Banbury, Barbara L., Baron, John A., Berndt, Sonja I., Bézieau, Stéphane, Bishop, D. Timothy, Boehm, Juergen, Boeing, Heiner, Brenner, Hermann, Brezina, Stefanie, Buch, Stephan, Buchanan, Daniel D., Burnett-Hartman, Andrea, Butterbach, Katja, Caan, Bette J., Campbell, Peter T., Carlson, Christopher S., Castellví-Bel, Sergi, Chan, Andrew T., Chang-Claude, Jenny, Chanock, Stephen J., Chirlaque, Maria-Dolores, Cho, Sang Hee, Connolly, Charles M., Cross, Amanda J., Cuk, Katarina, Curtis, Keith R., de la Chapelle, Albert, Doheny, Kimberly F., Duggan, David, Easton, Douglas F., Elias, Sjoerd G., Elliott, Faye, English, Dallas R., Feskens, Edith J. M., Figueiredo, Jane C., Fischer, Rocky, FitzGerald, Liesel M., Forman, David, Gala, Manish, Gallinger, Steven, Gauderman, W. James, Giles, Graham G., Gillanders, Elizabeth, Gong, Jian, Goodman, Phyllis J., Grady, William M., Grove, John S., Gsur, Andrea, Gunter, Marc J., Haile, Robert W., Hampe, Jochen, Hampel, Heather, Harlid, Sophia, Hayes, Richard B., Hofer, Philipp, Hoffmeister, Michael, Hopper, John L., Hsu, Wan-Ling, Huang, Wen-Yi, Hudson, Thomas J., Hunter, David J., Ibañez-Sanz, Gemma, Idos, Gregory E., Ingersoll, Roxann, Jackson, Rebecca D., Jacobs, Eric J., Jenkins, Mark A., Joshi, Amit D., Joshu, Corinne E., Keku, Temitope O., Key, Timothy J., Kim, Hyeong Rok, Kobayashi, Emiko, Kolonel, Laurence N., Kooperberg, Charles, Kühn, Tilman, Küry, Sébastien, Kweon, Sun-Seog, Larsson, Susanna C., Laurie, Cecelia A., Le Marchand, Loic, Leal, Suzanne M., Lee, Soo Chin, Lejbkowicz, Flavio, Lemire, Mathieu, Li, Christopher I., Li, Li, Lieb, Wolfgang, Lin, Yi, Lindblom, Annika, Lindor, Noralane M., Ling, Hua, Louie, Tin L., Männistö, Satu, Markowitz, Sanford D., Martín, Vicente, Masala, Giovanna, McNeil, Caroline E., Melas, Marilena, Milne, Roger L., Moreno, Lorena, Murphy, Neil, Myte, Robin, Naccarati, Alessio, Newcomb, Polly A., Offit, Kenneth, Ogino, Shuji, Onland-Moret, N. Charlotte, Pardini, Barbara, Parfrey, Patrick S., Pearlman, Rachel, Perduca, Vittorio, Pharoah, Paul D. P., Pinchev, Mila, Platz, Elizabeth A., Prentice, Ross L., Pugh, Elizabeth, Raskin, Leon, Rennert, Gad, Rennert, Hedy S., Riboli, Elio, Rodríguez-Barranco, Miguel, Romm, Jane, Sakoda, Lori C., Schafmayer, Clemens, Schoen, Robert E., Seminara, Daniela, Shah, Mitul, Shelford, Tameka, Shin, Min-Ho, Shulman, Katerina, Sieri, Sabina, Slattery, Martha L., Southey, Melissa C., Stadler, Zsofia K., Stegmaier, Christa, Su, Yu-Ru, Tangen, Catherine M., Thibodeau, Stephen N., Thomas, Duncan C., Thomas, Sushma S., Toland, Amanda E., Trichopoulou, Antonia, Ulrich, Cornelia M., Van Den Berg, David J., van Duijnhoven, Franzel J. B., Van Guelpen, Bethany, van Kranen, Henk, Vijai, Joseph, Visvanathan, Kala, Vodicka, Pavel, Vodickova, Ludmila, Vymetalkova, Veronika, Weigl, Korbinian, Weinstein, Stephanie J., White, Emily, Win, Aung Ko, Wolf, C. Roland, Wolk, Alicja, Woods, Michael O., Wu, Anna H., Zaidi, Syed H., Zanke, Brent W., Zhang, Qing, Zheng, Wei, Scacheri, Peter C., Potter, John D., Bassik, Michael C., Kundaje, Anshul, Casey, Graham, Moreno, Victor, Abecasis, Goncalo R., Nickerson, Deborah A., Gruber, Stephen B., Hsu, Li, and Peters, Ulrike

Published
2019
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22. Meta-analysis of new genome-wide association studies of colorectal cancer risk

Author

Peters, Ulrike, Hutter, Carolyn M, Hsu, Li, Schumacher, Fredrick R, Conti, David V, Carlson, Christopher S, Edlund, Christopher K, Haile, Robert W, Gallinger, Steven, Zanke, Brent W, Lemire, Mathieu, Rangrej, Jagadish, Vijayaraghavan, Raakhee, Chan, Andrew T, Hazra, Aditi, Hunter, David J, Ma, Jing, Fuchs, Charles S, Giovannucci, Edward L, Kraft, Peter, Liu, Yan, Chen, Lin, Jiao, Shuo, Makar, Karen W, Taverna, Darin, Gruber, Stephen B, Rennert, Gad, Moreno, Victor, Ulrich, Cornelia M, Woods, Michael O, Green, Roger C, Parfrey, Patrick S, Prentice, Ross L, Kooperberg, Charles, Jackson, Rebecca D, LaCroix, Andrea Z, Caan, Bette J, Hayes, Richard B, Berndt, Sonja I, Chanock, Stephen J, Schoen, Robert E, Chang-Claude, Jenny, Hoffmeister, Michael, Brenner, Hermann, Frank, Bernd, Bézieau, Stéphane, Küry, Sébastien, Slattery, Martha L, Hopper, John L, Jenkins, Mark A, Le Marchand, Loic, Lindor, Noralane M, Newcomb, Polly A, Seminara, Daniela, Hudson, Thomas J, Duggan, David J, Potter, John D, and Casey, Graham

Subjects
Biological Sciences, Biomedical and Clinical Sciences, Oncology and Carcinogenesis, Genetics, Colo-Rectal Cancer, Aging, Human Genome, Cancer, Prevention, Digestive Diseases, 2.1 Biological and endogenous factors, Aetiology, Colorectal Neoplasms, Female, Genetic Predisposition to Disease, Genome-Wide Association Study, Humans, Male, Odds Ratio, Polymorphism, Single Nucleotide, Risk Factors, Complementary and Alternative Medicine, Paediatrics and Reproductive Medicine, Genetics & Heredity, Reproductive medicine
Abstract

Colorectal cancer is the second leading cause of cancer death in developed countries. Genome-wide association studies (GWAS) have successfully identified novel susceptibility loci for colorectal cancer. To follow up on these findings, and try to identify novel colorectal cancer susceptibility loci, we present results for GWAS of colorectal cancer (2,906 cases, 3,416 controls) that have not previously published main associations. Specifically, we calculated odds ratios and 95% confidence intervals using log-additive models for each study. In order to improve our power to detect novel colorectal cancer susceptibility loci, we performed a meta-analysis combining the results across studies. We selected the most statistically significant single nucleotide polymorphisms (SNPs) for replication using ten independent studies (8,161 cases and 9,101 controls). We again used a meta-analysis to summarize results for the replication studies alone, and for a combined analysis of GWAS and replication studies. We measured ten SNPs previously identified in colorectal cancer susceptibility loci and found eight to be associated with colorectal cancer (p value range 0.02 to 1.8 × 10(-8)). When we excluded studies that have previously published on these SNPs, five SNPs remained significant at p

Published
2012

23. Adjuvant systemic therapy for breast cancer in BRCA1/BRCA2 mutation carriers in a population-based study of risk of contralateral breast cancer

Author

Reding, Kerryn W, Bernstein, Jonine L, Langholz, Bryan M, Bernstein, Leslie, Haile, Robert W, Begg, Colin B, Lynch, Charles F, Concannon, Patrick, Borg, Ake, Teraoka, Sharon N, Törngren, Therese, Diep, Anh, Xue, Shanyan, Bertelsen, Lisbeth, Liang, Xiaolin, Reiner, Anne S, Capanu, Marinela, Malone, Kathleen E, and The WECARE Collaborative Study Group

Subjects
Biomedical and Clinical Sciences, Oncology and Carcinogenesis, Genetic Testing, Breast Cancer, Prevention, Cancer, Clinical Research, Genetics, Evaluation of treatments and therapeutic interventions, 6.1 Pharmaceuticals, Adult, Antineoplastic Combined Chemotherapy Protocols, BRCA1 Protein, BRCA2 Protein, Breast Neoplasms, Case-Control Studies, Chemotherapy, Adjuvant, DNA Mutational Analysis, Denmark, Female, Humans, Likelihood Functions, Logistic Models, Middle Aged, Mutation, Neoplasm Recurrence, Local, Registries, Risk Assessment, Risk Factors, SEER Program, Tamoxifen, Treatment Outcome, United States, Young Adult, WECARE Collaborative Study Group, Clinical Sciences, Oncology & Carcinogenesis, Clinical sciences, Oncology and carcinogenesis
Abstract

Given the greatly elevated risks of contralateral breast cancer (CBC) observed in breast cancer patients who carry mutations in BRCA1 and BRCA2, it is critical to determine the effectiveness of standard adjuvant therapies in preventing CBC in mutation carriers. The WECARE study is a matched, case-control study of 708 women with CBC as cases and 1,399 women with unilateral breast cancer (UBC) as controls, including 181 BRCA1/BRCA2 mutation carriers. Interviews and medical record reviews provided detailed information on risk factors and breast cancer therapy. All study participants were screened for BRCA1 and BRCA2 mutations using denaturing high-performance liquid chromatography (DHPLC) to detect genetic variants in the coding and flanking regions of the genes. Conditional logistic regression was used to compare the risk of CBC associated with chemotherapy and tamoxifen in BRCA1/BRCA2 mutation carriers and non-carriers. Chemotherapy was associated with lower CBC risk both in non-carriers (RR = 0.6 [95% CI: 0.5-0.7]) and carriers (RR = 0.5 [95% CI: 0.2-1.0]; P value = 0.04). Tamoxifen was associated with a reduced CBC risk in non-carriers (RR = 0.7 [95% CI: 0.6-1.0]; P value = 0.03). We observed a similar but non-significant reduction associated with tamoxifen in mutation carriers (RR = 0.7 [95% CI: 0.3-1.8]). The tests of heterogeneity comparing carriers to non-carriers did not provide evidence for a difference in the associations with chemotherapy (P value = 0.51) nor with tamoxifen (P value = 0.15). Overall, we did not observe a difference in the relative risk reduction associated with adjuvant treatment between BRCA1/BRCA2 mutation carriers and non-carriers. However, given the higher absolute CBC risk in mutation carriers, the potentially greater impact of adjuvant therapy in reducing CBC risk among mutation carriers should be considered when developing treatment plans for these patients.

Published
2010

24. Reproductive factors and risk of contralateral breast cancer by BRCA1 and BRCA2 mutation status: results from the WECARE study

Author

Poynter, Jenny N, Langholz, Bryan, Largent, Joan, Mellemkjær, Lene, Bernstein, Leslie, Malone, Kathleen E, Lynch, Charles F, Borg, Åke, Concannon, Patrick, Teraoka, Sharon N, Xue, Shanyan, Diep, Anh T, Törngren, Therese, Begg, Colin B, Capanu, Marinela, Haile, Robert W, The WECARE Study Collaborative Group, and Bernstein, Jonine L

Subjects
Health Services and Systems, Biomedical and Clinical Sciences, Health Sciences, Oncology and Carcinogenesis, Contraception/Reproduction, Clinical Research, Genetics, Breast Cancer, Aging, Prevention, Cancer, Aetiology, 2.1 Biological and endogenous factors, Reproductive health and childbirth, Good Health and Well Being, BRCA2 Protein, Breast Neoplasms, Case-Control Studies, Female, Genes, BRCA2, Humans, Logistic Models, Menarche, Menopause, Mutation, Neoplasms, Parity, Pregnancy, Reproductive History, Risk, Risk Factors, Contralateral breast cancer, BRCA1, BRCA2, Reproductive factors, WECARE Study Collaborative Group, Public Health and Health Services, Epidemiology, Oncology and carcinogenesis
Abstract

ObjectiveReproductive factors, such as early age at menarche, late age at menopause, and nulliparity are known risk factors for breast cancer. Previously, we reported these factors to be associated with risk of developing contralateral breast cancer (CBC). In this study, we evaluated the association between these factors and CBC risk among BRCA1 and BRCA2 (BRCA1/2) mutation carriers and non-carriers.MethodsThe WECARE Study is a population-based multi-center case-control study of 705 women with CBC (cases) and 1,397 women with unilateral breast cancer (controls). All participants were screened for BRCA1/2 mutations and 181 carriers were identified. Conditional logistic regression models were used to evaluate associations between reproductive factors and CBC for mutation carriers and non-carriers.ResultsNone of the associations between reproductive factors and CBC risk differed between mutation carriers and non-carriers. The increase in risk with younger age at menarche and decrease in risk in women with more than two full-term pregnancies seen in non-carriers were not significantly different in carriers (adjusted RRs = 1.31, 95% CI 0.65-2.65 and 0.53, 95% CI 0.19-1.51, respectively). No significant associations between the other reproductive factors and CBC risk were observed in mutation carriers or non-carriers.ConclusionFor two reproductive factors previously shown to be associated with CBC risk, we observed similar associations for BRCA1/2 carriers. This suggests that reproductive variables that affect CBC risk may have similar effects in mutation carriers and non-carriers.

Published
2010

25. Radiation exposure, the ATM Gene, and contralateral breast cancer in the women's environmental cancer and radiation epidemiology study.

Author

Bernstein, Jonine L, Haile, Robert W, Stovall, Marilyn, Boice, John D, Shore, Roy E, Langholz, Bryan, Thomas, Duncan C, Bernstein, Leslie, Lynch, Charles F, Olsen, Jorgen H, Malone, Kathleen E, Mellemkjaer, Lene, Borresen-Dale, Anne-Lise, Rosenstein, Barry S, Teraoka, Sharon N, Diep, Anh T, Smith, Susan A, Capanu, Marinela, Reiner, Anne S, Liang, Xiaolin, Gatti, Richard A, Concannon, Patrick, and WECARE Study Collaborative Group

Subjects
WECARE Study Collaborative Group, Humans, Breast Neoplasms, Neoplasms, Radiation-Induced, Neoplasms, Second Primary, DNA Damage, Radiation Injuries, Genetic Predisposition to Disease, Protein-Serine-Threonine Kinases, Cell Cycle Proteins, DNA-Binding Proteins, Tumor Suppressor Proteins, Odds Ratio, Risk Assessment, Risk Factors, Case-Control Studies, Environmental Exposure, Age Factors, Mutation, Missense, Time Factors, International Cooperation, Adult, Aged, Middle Aged, Female, Ataxia Telangiectasia Mutated Proteins, Neoplasms, Radiation-Induced, Second Primary, Mutation, Missense, Oncology and Carcinogenesis, Oncology & Carcinogenesis
Abstract

BackgroundIonizing radiation is a known mutagen and an established breast carcinogen. The ATM gene is a key regulator of cellular responses to the DNA damage induced by ionizing radiation. We investigated whether genetic variants in ATM play a clinically significant role in radiation-induced contralateral breast cancer in women.MethodsThe Women's Environmental, Cancer, and Radiation Epidemiology Study is an international population-based case-control study nested within a cohort of 52,536 survivors of unilateral breast cancer diagnosed between 1985 and 2000. The 708 case subjects were women with contralateral breast cancer, and the 1397 control subjects were women with unilateral breast cancer matched to the case subjects on age, follow-up time, registry reporting region, and race and/or ethnicity. All women were interviewed and underwent full mutation screening of the entire ATM gene. Complete medical treatment history information was collected, and for all women who received radiotherapy, the radiation dose to the contralateral breast was reconstructed using radiotherapy records and radiation measurements. Rate ratios (RRs) and corresponding 95% confidence intervals (CIs) were estimated by using multivariable conditional logistic regression. All P values are two-sided.ResultsAmong women who carried a rare ATM missense variant (ie, one carried by or =1.0 Gy: RR = 3.3, 95% CI = 1.4 to 8.0) or compared with unexposed women who carried the same predicted deleterious missense variant (0.01-0.99 Gy: RR = 5.3, 95% CI = 1.6 to 17.3; > or =1.0 Gy: RR = 5.8, 95% CI = 1.8 to 19.0; P(trend) = .044).ConclusionsWomen who carry rare deleterious ATM missense variants and who are treated with radiation may have an elevated risk of developing contralateral breast cancer. However, the rarity of these deleterious missense variants in human populations implies that ATM mutations could account for only a small portion of second primary breast cancers.

Published
2010

26. Breast Cancer Risks for BRCA1/2 Carriers

Author

Easton, Douglas F., Hopper, John L., Thomas, Duncan C., Antoniou, Antonis, Whittemore, Alice S., Haile, Robert W., Wacholder, Sholom, Struewing, Jeffery P., Hartge, Patricia, Greene, Mark H., Tucker, Margaret A., and King, Mary-Claire

Published
2004

31. Perspectives on This Article from Association between Folate Levels and CpG Island Hypermethylation in Normal Colorectal Mucosa

Author

Wallace, Kristin, primary, Grau, Maria V., primary, Levine, A. Joan, primary, Shen, Lanlan, primary, Hamdan, Randala, primary, Chen, Xinli, primary, Gui, Jiang, primary, Haile, Robert W., primary, Barry, Elizabeth L., primary, Ahnen, Dennis, primary, McKeown-Eyssen, Gail, primary, Baron, John A., primary, and Issa, Jean Pierre J., primary

Published
2023
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32. Dose to the Contralateral Breast From Radiotherapy and Risk of Second Primary Breast Cancer in the WECARE Study

Author

Stovall, Marilyn, Smith, Susan A, Langholz, Bryan M, Boice, John D, Shore, Roy E, Andersson, Michael, Buchholz, Thomas A, Capanu, Marinela, Bernstein, Leslie, Lynch, Charles F, Malone, Kathleen E, Anton-Culver, Hoda, Haile, Robert W, Rosenstein, Barry S, Reiner, Anne S, Thomas, Duncan C, Bernstein, Jonine L, and Group, WECARE Study Collaborative

Subjects
Clinical Research, Breast Cancer, Cancer, 7.3 Management and decision making, Management of diseases and conditions, Adult, Body Burden, Breast Neoplasms, Denmark, Female, Humans, Incidence, Middle Aged, Neoplasms, Radiation-Induced, Neoplasms, Second Primary, Radiotherapy, Radiotherapy Dosage, Relative Biological Effectiveness, Risk Assessment, Risk Factors, Treatment Outcome, United States, Women's Health, Contralateral breast, Radiation risk, Secondary breast cancer, Women's Environmental, Cancer, and Radiation Epidemiology Study Collaborative Group, Other Physical Sciences, Clinical Sciences, Oncology and Carcinogenesis, Oncology & Carcinogenesis
Abstract

PurposeTo quantify the risk of second primary breast cancer in the contralateral breast (CB) after radiotherapy (RT) for first breast cancer.Methods and materialsThe study population included participants in the Women's Environmental, Cancer, and Radiation Epidemiology study: 708 cases (women with asynchronous bilateral breast cancer) and 1399 controls (women with unilateral breast cancer) counter-matched on radiation treatment. Participants were 1.0 Gy of absorbed dose to the specific quadrant of the CB had a 2.5-fold greater risk for CB cancer than unexposed women (RR = 2.5, 95% CI 1.4-4.5). No excess risk was observed in women >40 years of age. Women 5 years had a RR of 3.0 (95% CI 1.1-8.1), and the dose response was significant (excess RR per Gy of 1.0, 95% CI 0.1-3.0).ConclusionsWomen 1.0 Gy to the CB had an elevated, long-term risk of developing a second primary CB cancer. The risk is inversely related to age at exposure and is dose dependent.

Published
2008

33. Effect of Systemic Adjuvant Treatment on Risk for Contralateral Breast Cancer in the Women's Environment, Cancer and Radiation Epidemiology Study

Author

Bertelsen, Lisbeth, Bernstein, Leslie, Olsen, Jørgen H, Mellemkjær, Lene, Haile, Robert W, Lynch, Charles F, Malone, Kathleen E, Anton-Culver, Hoda, Christensen, Jane, Langholz, Bryan, Thomas, Duncan C, Begg, Colin B, Capanu, Marinela, Ejlertsen, Bent, Stovall, Marilyn, Boice, John D, Shore, Roy E, and Bernstein, Jonine L

Subjects
Prevention, Clinical Research, Aging, Breast Cancer, Cancer, Evaluation of treatments and therapeutic interventions, 6.1 Pharmaceuticals, Adult, Antineoplastic Agents, Hormonal, Antineoplastic Combined Chemotherapy Protocols, Breast Neoplasms, Case-Control Studies, Chemotherapy, Adjuvant, Confounding Factors, Epidemiologic, Cyclophosphamide, Doxorubicin, Estrogen Receptor Modulators, Female, Fluorouracil, Humans, Menopause, Methotrexate, Middle Aged, Multivariate Analysis, Neoplasms, Second Primary, Ovary, Radiotherapy, Adjuvant, Research Design, Risk Assessment, Tamoxifen, Treatment Outcome, Women's Environment, Cancer and Radiation Epidemiology Study Collaborative Group, Oncology and Carcinogenesis, Oncology & Carcinogenesis
Abstract

BackgroundResults from randomized trials indicate that treatment with tamoxifen or chemotherapy for primary breast cancer reduces the risk for contralateral breast cancer. However, less is known about how long the risk is reduced and the impact of factors such as age and menopausal status.MethodsThe study included 634 women with contralateral breast cancer (case patients) and 1158 women with unilateral breast cancer (control subjects) from the Women's Environment, Cancer and Radiation Epidemiology Study. The women were younger than age 55 when they were first diagnosed with breast cancer during 1985-1999. Rate ratios (RRs) and 95% confidence intervals (CIs) for contralateral breast cancer after treatment with chemotherapy or tamoxifen were assessed by multivariable adjusted conditional logistic regression analyses.ResultsChemotherapy was associated with a lower risk for contralateral breast cancer (RR = 0.57, 95% CI = 0.42 to 0.75) than no chemotherapy. A statistically significant association between chemotherapy and reduced risk for contralateral breast cancer persisted up to 10 years after the first breast cancer diagnosis and was stronger among women who became postmenopausal within 1 year of the first breast cancer diagnosis (RR = 0.28, 95% CI = 0.11 to 0.76). Tamoxifen use was also associated with reduced risk for contralateral breast cancer (RR = 0.66, 95% CI = 0.50 to 0.88) compared with no use, and the association was statistically significant for 5 years after the first diagnosis.ConclusionThe associations between chemotherapy and tamoxifen treatment and reduced risk for contralateral breast cancer appear to continue for 10 and 5 years, respectively, after the initial breast cancer is diagnosed. Ovarian suppression may have a role in the association between chemotherapy and reduced risk for contralateral breast cancer.

Published
2008

34. Circulating bilirubin levels and risk of colorectal cancer: serological and Mendelian randomization analyses

Author

Seyed Khoei, Nazlisadat, Jenab, Mazda, Murphy, Neil, Banbury, Barbara L., Carreras-Torres, Robert, Viallon, Vivian, Kühn, Tilman, Bueno-de-Mesquita, Bas, Aleksandrova, Krasimira, Cross, Amanda J., Weiderpass, Elisabete, Stepien, Magdalena, Bulmer, Andrew, Tjønneland, Anne, Boutron-Ruault, Marie-Christine, Severi, Gianluca, Carbonnel, Franck, Katzke, Verena, Boeing, Heiner, Bergmann, Manuela M., Trichopoulou, Antonia, Karakatsani, Anna, Martimianaki, Georgia, Palli, Domenico, Tagliabue, Giovanna, Panico, Salvatore, Tumino, Rosario, Sacerdote, Carlotta, Skeie, Guri, Merino, Susana, Bonet, Catalina, Rodríguez-Barranco, Miguel, Gil, Leire, Chirlaque, Maria-Dolores, Ardanaz, Eva, Myte, Robin, Hultdin, Johan, Perez-Cornago, Aurora, Aune, Dagfinn, Tsilidis, Konstantinos K., Albanes, Demetrius, Baron, John A., Berndt, Sonja I., Bézieau, Stéphane, Brenner, Hermann, Campbell, Peter T., Casey, Graham, Chan, Andrew T., Chang-Claude, Jenny, Chanock, Stephen J., Cotterchio, Michelle, Gallinger, Steven, Gruber, Stephen B., Haile, Robert W., Hampe, Jochen, Hoffmeister, Michael, Hopper, John L., Hsu, Li, Huyghe, Jeroen R., Jenkins, Mark A., Joshi, Amit D., Kampman, Ellen, Larsson, Susanna C., Le Marchand, Loic, Li, Christopher I., Li, Li, Lindblom, Annika, Lindor, Noralane M., Martín, Vicente, Moreno, Victor, Newcomb, Polly A., Offit, Kenneth, Ogino, Shuji, Parfrey, Patrick S., Pharoah, Paul D. P., Rennert, Gad, Sakoda, Lori C., Schafmayer, Clemens, Schmit, Stephanie L., Schoen, Robert E., Slattery, Martha L., Thibodeau, Stephen N., Ulrich, Cornelia M., van Duijnhoven, Franzel J. B., Weigl, Korbinian, Weinstein, Stephanie J., White, Emily, Wolk, Alicja, Woods, Michael O., Wu, Anna H., Zhang, Xuehong, Ferrari, Pietro, Anton, Gabriele, Peters, Annette, Peters, Ulrike, Gunter, Marc J., Wagner, Karl-Heinz, and Freisling, Heinz

Published
2020
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38. Study design: Evaluating gene–environment interactions in the etiology of breast cancer – the WECARE study

Author

Bernstein, Jonine L, Langholz, Bryan, Haile, Robert W, Bernstein, Leslie, Thomas, Duncan C, Stovall, Marilyn, Malone, Kathleen E, Lynch, Charles F, Olsen, Jørgen H, Anton-Culver, Hoda, Shore, Roy E, Boice, John D, Berkowitz, Gertrud S, Gatti, Richard A, Teitelbaum, Susan L, Smith, Susan A, Rosenstein, Barry S, Børresen-Dale, Anne-Lise, Concannon, Patrick, and Thompson, W Douglas

Subjects
Clinical Research, Breast Cancer, Cancer, Prevention, Genetics, Genetic Testing, 2.1 Biological and endogenous factors, Aetiology, 2.2 Factors relating to the physical environment, Adult, Alleles, Ataxia Telangiectasia Mutated Proteins, Breast Neoplasms, Case-Control Studies, Cell Cycle Proteins, Cocarcinogenesis, DNA-Binding Proteins, Female, Genes, BRCA1, Genes, BRCA2, Genes, Tumor Suppressor, Genetic Predisposition to Disease, Genotype, Humans, Likelihood Functions, Middle Aged, Neoplasms, Radiation-Induced, Neoplasms, Second Primary, Phantoms, Imaging, Protein Serine-Threonine Kinases, Radiotherapy, Radiotherapy Dosage, Registries, Research Design, Single-Blind Method, Tumor Suppressor Proteins, bilateral breast cancer, breast cancer susceptibility genes, counter-matching, gene-environment interactions, radiation dosimetry, study design, WECARE study, Oncology and Carcinogenesis, Oncology & Carcinogenesis
Abstract

IntroductionDeficiencies in cellular responses to DNA damage can predispose to cancer. Ionizing radiation can cause cluster damage and double-strand breaks (DSBs) that pose problems for cellular repair processes. Three genes (ATM, BRCA1, and BRCA2) encode products that are essential for the normal cellular response to DSBs, but predispose to breast cancer when mutated.DesignTo examine the joint roles of radiation exposure and genetic susceptibility in the etiology of breast cancer, we designed a case-control study nested within five population-based cancer registries. We hypothesized that a woman carrying a mutant allele in one of these genes is more susceptible to radiation-induced breast cancer than is a non-carrier. In our study, 700 women with asynchronous bilateral breast cancer were individually matched to 1400 controls with unilateral breast cancer on date and age at diagnosis of the first breast cancer, race, and registry region, and counter-matched on radiation therapy. Each triplet comprised two women who received radiation therapy and one woman who did not. Radiation absorbed dose to the contralateral breast after initial treatment was estimated with a comprehensive dose reconstruction approach that included experimental measurements in anthropomorphic and water phantoms applying patient treatment parameters. Blood samples were collected from all participants for genetic analyses.ConclusionsOur study design improves the potential for detecting gene-environment interactions for diseases when both gene mutations and the environmental exposures of interest are rare in the general population. This is particularly applicable to the study of bilateral breast cancer because both radiation dose and genetic susceptibility have important etiologic roles, possibly by interactive mechanisms. By using counter-matching, we optimized the informativeness of the collected dosimetry data by increasing the variability of radiation dose within the case-control sets and enhanced our ability to detect radiation-genotype interactions.

Published
2004

39. Supplementary Table 1 from Cross-Cancer Genome-Wide Analysis of Lung, Ovary, Breast, Prostate, and Colorectal Cancer Reveals Novel Pleiotropic Associations

Author

Fehringer, Gordon, primary, Kraft, Peter, primary, Pharoah, Paul D., primary, Eeles, Rosalind A., primary, Chatterjee, Nilanjan, primary, Schumacher, Fredrick R., primary, Schildkraut, Joellen M., primary, Lindström, Sara, primary, Brennan, Paul, primary, Bickeböller, Heike, primary, Houlston, Richard S., primary, Landi, Maria Teresa, primary, Caporaso, Neil, primary, Risch, Angela, primary, Amin Al Olama, Ali, primary, Berndt, Sonja I., primary, Giovannucci, Edward L., primary, Grönberg, Henrik, primary, Kote-Jarai, Zsofia, primary, Ma, Jing, primary, Muir, Kenneth, primary, Stampfer, Meir J., primary, Stevens, Victoria L., primary, Wiklund, Fredrik, primary, Willett, Walter C., primary, Goode, Ellen L., primary, Permuth, Jennifer B., primary, Risch, Harvey A., primary, Reid, Brett M., primary, Bezieau, Stephane, primary, Brenner, Hermann, primary, Chan, Andrew T., primary, Chang-Claude, Jenny, primary, Hudson, Thomas J., primary, Kocarnik, Jonathan K., primary, Newcomb, Polly A., primary, Schoen, Robert E., primary, Slattery, Martha L., primary, White, Emily, primary, Adank, Muriel A., primary, Ahsan, Habibul, primary, Aittomäki, Kristiina, primary, Baglietto, Laura, primary, Blomquist, Carl, primary, Canzian, Federico, primary, Czene, Kamila, primary, dos-Santos-Silva, Isabel, primary, Eliassen, A. Heather, primary, Figueroa, Jonine D., primary, Flesch-Janys, Dieter, primary, Fletcher, Olivia, primary, Garcia-Closas, Montserrat, primary, Gaudet, Mia M., primary, Johnson, Nichola, primary, Hall, Per, primary, Hazra, Aditi, primary, Hein, Rebecca, primary, Hofman, Albert, primary, Hopper, John L., primary, Irwanto, Astrid, primary, Johansson, Mattias, primary, Kaaks, Rudolf, primary, Kibriya, Muhammad G., primary, Lichtner, Peter, primary, Liu, Jianjun, primary, Lund, Eiliv, primary, Makalic, Enes, primary, Meindl, Alfons, primary, Müller-Myhsok, Bertram, primary, Muranen, Taru A., primary, Nevanlinna, Heli, primary, Peeters, Petra H., primary, Peto, Julian, primary, Prentice, Ross L., primary, Rahman, Nazneen, primary, Sanchez, Maria Jose, primary, Schmidt, Daniel F., primary, Schmutzler, Rita K., primary, Southey, Melissa C., primary, Tamimi, Rulla, primary, Travis, Ruth C., primary, Turnbull, Clare, primary, Uitterlinden, Andre G., primary, Wang, Zhaoming, primary, Whittemore, Alice S., primary, Yang, Xiaohong R., primary, Zheng, Wei, primary, Buchanan, Daniel D., primary, Casey, Graham, primary, Conti, David V., primary, Edlund, Christopher K., primary, Gallinger, Steven, primary, Haile, Robert W., primary, Jenkins, Mark, primary, Le Marchand, Loïc, primary, Li, Li, primary, Lindor, Noralene M., primary, Schmit, Stephanie L., primary, Thibodeau, Stephen N., primary, Woods, Michael O., primary, Rafnar, Thorunn, primary, Gudmundsson, Julius, primary, Stacey, Simon N., primary, Stefansson, Kari, primary, Sulem, Patrick, primary, Chen, Y. Ann, primary, Tyrer, Jonathan P., primary, Christiani, David C., primary, Wei, Yongyue, primary, Shen, Hongbing, primary, Hu, Zhibin, primary, Shu, Xiao-Ou, primary, Shiraishi, Kouya, primary, Takahashi, Atsushi, primary, Bossé, Yohan, primary, Obeidat, Ma'en, primary, Nickle, David, primary, Timens, Wim, primary, Freedman, Matthew L., primary, Li, Qiyuan, primary, Seminara, Daniela, primary, Chanock, Stephen J., primary, Gong, Jian, primary, Peters, Ulrike, primary, Gruber, Stephen B., primary, Amos, Christopher I., primary, Sellers, Thomas A., primary, Easton, Douglas F., primary, Hunter, David J., primary, Haiman, Christopher A., primary, Henderson, Brian E., primary, and Hung, Rayjean J., primary

Published
2023
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40. Data from Cross-Cancer Genome-Wide Analysis of Lung, Ovary, Breast, Prostate, and Colorectal Cancer Reveals Novel Pleiotropic Associations

Author

Fehringer, Gordon, primary, Kraft, Peter, primary, Pharoah, Paul D., primary, Eeles, Rosalind A., primary, Chatterjee, Nilanjan, primary, Schumacher, Fredrick R., primary, Schildkraut, Joellen M., primary, Lindström, Sara, primary, Brennan, Paul, primary, Bickeböller, Heike, primary, Houlston, Richard S., primary, Landi, Maria Teresa, primary, Caporaso, Neil, primary, Risch, Angela, primary, Amin Al Olama, Ali, primary, Berndt, Sonja I., primary, Giovannucci, Edward L., primary, Grönberg, Henrik, primary, Kote-Jarai, Zsofia, primary, Ma, Jing, primary, Muir, Kenneth, primary, Stampfer, Meir J., primary, Stevens, Victoria L., primary, Wiklund, Fredrik, primary, Willett, Walter C., primary, Goode, Ellen L., primary, Permuth, Jennifer B., primary, Risch, Harvey A., primary, Reid, Brett M., primary, Bezieau, Stephane, primary, Brenner, Hermann, primary, Chan, Andrew T., primary, Chang-Claude, Jenny, primary, Hudson, Thomas J., primary, Kocarnik, Jonathan K., primary, Newcomb, Polly A., primary, Schoen, Robert E., primary, Slattery, Martha L., primary, White, Emily, primary, Adank, Muriel A., primary, Ahsan, Habibul, primary, Aittomäki, Kristiina, primary, Baglietto, Laura, primary, Blomquist, Carl, primary, Canzian, Federico, primary, Czene, Kamila, primary, dos-Santos-Silva, Isabel, primary, Eliassen, A. Heather, primary, Figueroa, Jonine D., primary, Flesch-Janys, Dieter, primary, Fletcher, Olivia, primary, Garcia-Closas, Montserrat, primary, Gaudet, Mia M., primary, Johnson, Nichola, primary, Hall, Per, primary, Hazra, Aditi, primary, Hein, Rebecca, primary, Hofman, Albert, primary, Hopper, John L., primary, Irwanto, Astrid, primary, Johansson, Mattias, primary, Kaaks, Rudolf, primary, Kibriya, Muhammad G., primary, Lichtner, Peter, primary, Liu, Jianjun, primary, Lund, Eiliv, primary, Makalic, Enes, primary, Meindl, Alfons, primary, Müller-Myhsok, Bertram, primary, Muranen, Taru A., primary, Nevanlinna, Heli, primary, Peeters, Petra H., primary, Peto, Julian, primary, Prentice, Ross L., primary, Rahman, Nazneen, primary, Sanchez, Maria Jose, primary, Schmidt, Daniel F., primary, Schmutzler, Rita K., primary, Southey, Melissa C., primary, Tamimi, Rulla, primary, Travis, Ruth C., primary, Turnbull, Clare, primary, Uitterlinden, Andre G., primary, Wang, Zhaoming, primary, Whittemore, Alice S., primary, Yang, Xiaohong R., primary, Zheng, Wei, primary, Buchanan, Daniel D., primary, Casey, Graham, primary, Conti, David V., primary, Edlund, Christopher K., primary, Gallinger, Steven, primary, Haile, Robert W., primary, Jenkins, Mark, primary, Le Marchand, Loïc, primary, Li, Li, primary, Lindor, Noralene M., primary, Schmit, Stephanie L., primary, Thibodeau, Stephen N., primary, Woods, Michael O., primary, Rafnar, Thorunn, primary, Gudmundsson, Julius, primary, Stacey, Simon N., primary, Stefansson, Kari, primary, Sulem, Patrick, primary, Chen, Y. Ann, primary, Tyrer, Jonathan P., primary, Christiani, David C., primary, Wei, Yongyue, primary, Shen, Hongbing, primary, Hu, Zhibin, primary, Shu, Xiao-Ou, primary, Shiraishi, Kouya, primary, Takahashi, Atsushi, primary, Bossé, Yohan, primary, Obeidat, Ma'en, primary, Nickle, David, primary, Timens, Wim, primary, Freedman, Matthew L., primary, Li, Qiyuan, primary, Seminara, Daniela, primary, Chanock, Stephen J., primary, Gong, Jian, primary, Peters, Ulrike, primary, Gruber, Stephen B., primary, Amos, Christopher I., primary, Sellers, Thomas A., primary, Easton, Douglas F., primary, Hunter, David J., primary, Haiman, Christopher A., primary, Henderson, Brian E., primary, and Hung, Rayjean J., primary

Published
2023
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41. Supplemental Table 1 from Association of the Colorectal CpG Island Methylator Phenotype with Molecular Features, Risk Factors, and Family History

Author

Weisenberger, Daniel J., primary, Levine, A. Joan, primary, Long, Tiffany I., primary, Buchanan, Daniel D., primary, Walters, Rhiannon, primary, Clendenning, Mark, primary, Rosty, Christophe, primary, Joshi, Amit D., primary, Stern, Mariana C., primary, Le Marchand, Loic, primary, Lindor, Noralane M., primary, Daftary, Darshana, primary, Gallinger, Steven, primary, Selander, Teresa, primary, Bapat, Bharati, primary, Newcomb, Polly A., primary, Campbell, Peter T., primary, Casey, Graham, primary, Ahnen, Dennis J., primary, Baron, John A., primary, Haile, Robert W., primary, Hopper, John L., primary, Young, Joanne P., primary, Laird, Peter W., primary, and Siegmund, Kimberly D., primary

Published
2023
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43. Supplementary Tables S1-3 from Mendelian Randomization Study of Body Mass Index and Colorectal Cancer Risk

Author

Thrift, Aaron P., primary, Gong, Jian, primary, Peters, Ulrike, primary, Chang-Claude, Jenny, primary, Rudolph, Anja, primary, Slattery, Martha L., primary, Chan, Andrew T., primary, Locke, Adam E., primary, Kahali, Bratati, primary, Justice, Anne E., primary, Pers, Tune H., primary, Gallinger, Steven, primary, Hayes, Richard B., primary, Baron, John A., primary, Caan, Bette J., primary, Ogino, Shuji, primary, Berndt, Sonja I., primary, Chanock, Stephen J., primary, Casey, Graham, primary, Haile, Robert W., primary, Du, Mengmeng, primary, Harrison, Tabitha A., primary, Thornquist, Mark, primary, Duggan, David J., primary, Le Marchand, Loïc, primary, Lindor, Noralane M., primary, Seminara, Daniela, primary, Song, Mingyang, primary, Wu, Kana, primary, Thibodeau, Stephen N., primary, Cotterchio, Michelle, primary, Win, Aung Ko, primary, Jenkins, Mark A., primary, Hopper, John L., primary, Ulrich, Cornelia M., primary, Potter, John D., primary, Newcomb, Polly A., primary, Hoffmeister, Michael, primary, Brenner, Hermann, primary, White, Emily, primary, Hsu, Li, primary, and Campbell, Peter T., primary

Published
2023
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44. Supplementary Table 2 and Supplemental Figures from Cross-Cancer Genome-Wide Analysis of Lung, Ovary, Breast, Prostate, and Colorectal Cancer Reveals Novel Pleiotropic Associations

Author

Fehringer, Gordon, primary, Kraft, Peter, primary, Pharoah, Paul D., primary, Eeles, Rosalind A., primary, Chatterjee, Nilanjan, primary, Schumacher, Fredrick R., primary, Schildkraut, Joellen M., primary, Lindström, Sara, primary, Brennan, Paul, primary, Bickeböller, Heike, primary, Houlston, Richard S., primary, Landi, Maria Teresa, primary, Caporaso, Neil, primary, Risch, Angela, primary, Amin Al Olama, Ali, primary, Berndt, Sonja I., primary, Giovannucci, Edward L., primary, Grönberg, Henrik, primary, Kote-Jarai, Zsofia, primary, Ma, Jing, primary, Muir, Kenneth, primary, Stampfer, Meir J., primary, Stevens, Victoria L., primary, Wiklund, Fredrik, primary, Willett, Walter C., primary, Goode, Ellen L., primary, Permuth, Jennifer B., primary, Risch, Harvey A., primary, Reid, Brett M., primary, Bezieau, Stephane, primary, Brenner, Hermann, primary, Chan, Andrew T., primary, Chang-Claude, Jenny, primary, Hudson, Thomas J., primary, Kocarnik, Jonathan K., primary, Newcomb, Polly A., primary, Schoen, Robert E., primary, Slattery, Martha L., primary, White, Emily, primary, Adank, Muriel A., primary, Ahsan, Habibul, primary, Aittomäki, Kristiina, primary, Baglietto, Laura, primary, Blomquist, Carl, primary, Canzian, Federico, primary, Czene, Kamila, primary, dos-Santos-Silva, Isabel, primary, Eliassen, A. Heather, primary, Figueroa, Jonine D., primary, Flesch-Janys, Dieter, primary, Fletcher, Olivia, primary, Garcia-Closas, Montserrat, primary, Gaudet, Mia M., primary, Johnson, Nichola, primary, Hall, Per, primary, Hazra, Aditi, primary, Hein, Rebecca, primary, Hofman, Albert, primary, Hopper, John L., primary, Irwanto, Astrid, primary, Johansson, Mattias, primary, Kaaks, Rudolf, primary, Kibriya, Muhammad G., primary, Lichtner, Peter, primary, Liu, Jianjun, primary, Lund, Eiliv, primary, Makalic, Enes, primary, Meindl, Alfons, primary, Müller-Myhsok, Bertram, primary, Muranen, Taru A., primary, Nevanlinna, Heli, primary, Peeters, Petra H., primary, Peto, Julian, primary, Prentice, Ross L., primary, Rahman, Nazneen, primary, Sanchez, Maria Jose, primary, Schmidt, Daniel F., primary, Schmutzler, Rita K., primary, Southey, Melissa C., primary, Tamimi, Rulla, primary, Travis, Ruth C., primary, Turnbull, Clare, primary, Uitterlinden, Andre G., primary, Wang, Zhaoming, primary, Whittemore, Alice S., primary, Yang, Xiaohong R., primary, Zheng, Wei, primary, Buchanan, Daniel D., primary, Casey, Graham, primary, Conti, David V., primary, Edlund, Christopher K., primary, Gallinger, Steven, primary, Haile, Robert W., primary, Jenkins, Mark, primary, Le Marchand, Loïc, primary, Li, Li, primary, Lindor, Noralene M., primary, Schmit, Stephanie L., primary, Thibodeau, Stephen N., primary, Woods, Michael O., primary, Rafnar, Thorunn, primary, Gudmundsson, Julius, primary, Stacey, Simon N., primary, Stefansson, Kari, primary, Sulem, Patrick, primary, Chen, Y. Ann, primary, Tyrer, Jonathan P., primary, Christiani, David C., primary, Wei, Yongyue, primary, Shen, Hongbing, primary, Hu, Zhibin, primary, Shu, Xiao-Ou, primary, Shiraishi, Kouya, primary, Takahashi, Atsushi, primary, Bossé, Yohan, primary, Obeidat, Ma'en, primary, Nickle, David, primary, Timens, Wim, primary, Freedman, Matthew L., primary, Li, Qiyuan, primary, Seminara, Daniela, primary, Chanock, Stephen J., primary, Gong, Jian, primary, Peters, Ulrike, primary, Gruber, Stephen B., primary, Amos, Christopher I., primary, Sellers, Thomas A., primary, Easton, Douglas F., primary, Hunter, David J., primary, Haiman, Christopher A., primary, Henderson, Brian E., primary, and Hung, Rayjean J., primary

Published
2023
Full Text
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46. Data from Mendelian Randomization Study of Body Mass Index and Colorectal Cancer Risk

Author

Thrift, Aaron P., primary, Gong, Jian, primary, Peters, Ulrike, primary, Chang-Claude, Jenny, primary, Rudolph, Anja, primary, Slattery, Martha L., primary, Chan, Andrew T., primary, Locke, Adam E., primary, Kahali, Bratati, primary, Justice, Anne E., primary, Pers, Tune H., primary, Gallinger, Steven, primary, Hayes, Richard B., primary, Baron, John A., primary, Caan, Bette J., primary, Ogino, Shuji, primary, Berndt, Sonja I., primary, Chanock, Stephen J., primary, Casey, Graham, primary, Haile, Robert W., primary, Du, Mengmeng, primary, Harrison, Tabitha A., primary, Thornquist, Mark, primary, Duggan, David J., primary, Le Marchand, Loïc, primary, Lindor, Noralane M., primary, Seminara, Daniela, primary, Song, Mingyang, primary, Wu, Kana, primary, Thibodeau, Stephen N., primary, Cotterchio, Michelle, primary, Win, Aung Ko, primary, Jenkins, Mark A., primary, Hopper, John L., primary, Ulrich, Cornelia M., primary, Potter, John D., primary, Newcomb, Polly A., primary, Hoffmeister, Michael, primary, Brenner, Hermann, primary, White, Emily, primary, Hsu, Li, primary, and Campbell, Peter T., primary

Published
2023
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47. Data from A Randomized Trial to Increase Colonoscopy Screening in Members of High-Risk Families in the Colorectal Cancer Family Registry and Cancer Genetics Network

Author

Lowery, Jan T., primary, Horick, Nora, primary, Kinney, Anita Y., primary, Finkelstein, Dianne M., primary, Garrett, Kathleen, primary, Haile, Robert W., primary, Lindor, Noralane M., primary, Newcomb, Polly A., primary, Sandler, Robert S., primary, Burke, Carol, primary, Hill, Deirdre A., primary, and Ahnen, Dennis J., primary

Published
2023
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48. Supplementary Data from Lynch Syndrome–Associated Breast Cancers: Clinicopathologic Characteristics of a Case Series from the Colon Cancer Family Registry

Author

Walsh, Michael D., primary, Buchanan, Daniel D., primary, Cummings, Margaret C., primary, Pearson, Sally-Ann, primary, Arnold, Sven T., primary, Clendenning, Mark, primary, Walters, Rhiannon, primary, McKeone, Diane M., primary, Spurdle, Amanda B., primary, Hopper, John L., primary, Jenkins, Mark A., primary, Phillips, Kerry D., primary, Suthers, Graeme K., primary, George, Jill, primary, Goldblatt, Jack, primary, Muir, Amanda, primary, Tucker, Kathy, primary, Pelzer, Elise, primary, Gattas, Michael R., primary, Woodall, Sonja, primary, Parry, Susan, primary, Macrae, Finlay A., primary, Haile, Robert W., primary, Baron, John A., primary, Potter, John D., primary, Le Marchand, Loic, primary, Bapat, Bharati, primary, Thibodeau, Stephen N., primary, Lindor, Noralane M., primary, McGuckin, Michael A., primary, and Young, Joanne P., primary

Published
2023
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49. Data from Prevalence and Penetrance of Major Genes and Polygenes for Colorectal Cancer

Author

Win, Aung Ko, primary, Jenkins, Mark A., primary, Dowty, James G., primary, Antoniou, Antonis C., primary, Lee, Andrew, primary, Giles, Graham G., primary, Buchanan, Daniel D., primary, Clendenning, Mark, primary, Rosty, Christophe, primary, Ahnen, Dennis J., primary, Thibodeau, Stephen N., primary, Casey, Graham, primary, Gallinger, Steven, primary, Le Marchand, Loïc, primary, Haile, Robert W., primary, Potter, John D., primary, Zheng, Yingye, primary, Lindor, Noralane M., primary, Newcomb, Polly A., primary, Hopper, John L., primary, and MacInnis, Robert J., primary

Published
2023
Full Text
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50. Data from Lynch Syndrome–Associated Breast Cancers: Clinicopathologic Characteristics of a Case Series from the Colon Cancer Family Registry

Author

Walsh, Michael D., primary, Buchanan, Daniel D., primary, Cummings, Margaret C., primary, Pearson, Sally-Ann, primary, Arnold, Sven T., primary, Clendenning, Mark, primary, Walters, Rhiannon, primary, McKeone, Diane M., primary, Spurdle, Amanda B., primary, Hopper, John L., primary, Jenkins, Mark A., primary, Phillips, Kerry D., primary, Suthers, Graeme K., primary, George, Jill, primary, Goldblatt, Jack, primary, Muir, Amanda, primary, Tucker, Kathy, primary, Pelzer, Elise, primary, Gattas, Michael R., primary, Woodall, Sonja, primary, Parry, Susan, primary, Macrae, Finlay A., primary, Haile, Robert W., primary, Baron, John A., primary, Potter, John D., primary, Le Marchand, Loic, primary, Bapat, Bharati, primary, Thibodeau, Stephen N., primary, Lindor, Noralane M., primary, McGuckin, Michael A., primary, and Young, Joanne P., primary

Published
2023
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