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1. Anti-proliferative and apoptotic effect of cannabinoids on human pancreatic ductal adenocarcinoma xenograft in BALB/c nude mice model

Author

Le, Trung Quang, Meesiripan, Nuntana, Sanggrajang, Suleeporn, Suwanpidokkul, Nuntakan, Prayakprom, Piyaporn, Bodhibukkana, Chatchada, Khaowroongrueng, Vipada, Suriyachan, Kankanit, Thanasitthichai, Somchai, Srisubat, Attasit, Surawongsin, Pattamaporn, Rungsipipat, Anudep, Sakarin, Siriwan, and Rattanapinyopituk, Kasem

Published
2024
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7. Association analysis identifies 65 new breast cancer risk loci

Author

Michailidou, Kyriaki, Lindström, Sara, Dennis, Joe, Beesley, Jonathan, Hui, Shirley, Kar, Siddhartha, Lemaçon, Audrey, Soucy, Penny, Glubb, Dylan, Rostamianfar, Asha, Bolla, Manjeet K., Wang, Qin, Tyrer, Jonathan, Dicks, Ed, Lee, Andrew, Wang, Zhaoming, Allen, Jamie, Keeman, Renske, Eilber, Ursula, French, Juliet D., Qing Chen, Xiao, Fachal, Laura, McCue, Karen, McCart Reed, Amy E., Ghoussaini, Maya, Carroll, Jason S., Jiang, Xia, Finucane, Hilary, Adams, Marcia, Adank, Muriel A., Ahsan, Habibul, Aittomäki, Kristiina, Anton-Culver, Hoda, Antonenkova, Natalia N., Arndt, Volker, Aronson, Kristan J., Arun, Banu, Auer, Paul L., Bacot, François, Barrdahl, Myrto, Baynes, Caroline, Beckmann, Matthias W., Behrens, Sabine, Benitez, Javier, Bermisheva, Marina, Bernstein, Leslie, Blomqvist, Carl, Bogdanova, Natalia V., Bojesen, Stig E., Bonanni, Bernardo, Børresen-Dale, Anne-Lise, Brand, Judith S., Brauch, Hiltrud, Brennan, Paul, Brenner, Hermann, Brinton, Louise, Broberg, Per, Brock, Ian W., Broeks, Annegien, Brooks-Wilson, Angela, Brucker, Sara Y., Brüning, Thomas, Burwinkel, Barbara, Butterbach, Katja, Cai, Qiuyin, Cai, Hui, Caldés, Trinidad, Canzian, Federico, Carracedo, Angel, Carter, Brian D., Castelao, Jose E., Chan, Tsun L., David Cheng, Ting-Yuan, Seng Chia, Kee, Choi, Ji-Yeob, Christiansen, Hans, Clarke, Christine L., Collée, Margriet, Conroy, Don M., Cordina-Duverger, Emilie, Cornelissen, Sten, Cox, David G., Cox, Angela, Cross, Simon S., Cunningham, Julie M., Czene, Kamila, Daly, Mary B., Devilee, Peter, Doheny, Kimberly F., Dörk, Thilo, dos-Santos-Silva, Isabel, Dumont, Martine, Durcan, Lorraine, Dwek, Miriam, Eccles, Diana M., Ekici, Arif B., Eliassen, A. Heather, Ellberg, Carolina, Elvira, Mingajeva, Engel, Christoph, Eriksson, Mikael, Fasching, Peter A., Figueroa, Jonine, Flesch-Janys, Dieter, Fletcher, Olivia, Flyger, Henrik, Fritschi, Lin, Gaborieau, Valerie, Gabrielson, Marike, Gago-Dominguez, Manuela, Gao, Yu-Tang, Gapstur, Susan M., García-Sáenz, José A., Gaudet, Mia M., Georgoulias, Vassilios, Giles, Graham G., Glendon, Gord, Goldberg, Mark S., Goldgar, David E., González-Neira, Anna, Grenaker Alnæs, Grethe I., Grip, Mervi, Gronwald, Jacek, Grundy, Anne, Guénel, Pascal, Haeberle, Lothar, Hahnen, Eric, Haiman, Christopher A., Håkansson, Niclas, Hamann, Ute, Hamel, Nathalie, Hankinson, Susan, Harrington, Patricia, Hart, Steven N., Hartikainen, Jaana M., Hartman, Mikael, Hein, Alexander, Heyworth, Jane, Hicks, Belynda, Hillemanns, Peter, Ho, Dona N., Hollestelle, Antoinette, Hooning, Maartje J., Hoover, Robert N., Hopper, John L., Hou, Ming-Feng, Hsiung, Chia-Ni, Huang, Guanmengqian, Humphreys, Keith, Ishiguro, Junko, Ito, Hidemi, Iwasaki, Motoki, Iwata, Hiroji, Jakubowska, Anna, Janni, Wolfgang, John, Esther M., Johnson, Nichola, Jones, Kristine, Jones, Michael, Jukkola-Vuorinen, Arja, Kaaks, Rudolf, Kabisch, Maria, Kaczmarek, Katarzyna, Kang, Daehee, Kasuga, Yoshio, Kerin, Michael J., Khan, Sofia, Khusnutdinova, Elza, Kiiski, Johanna I., Kim, Sung-Won, Knight, Julia A., Kosma, Veli-Matti, Kristensen, Vessela N., Krüger, Ute, Kwong, Ava, Lambrechts, Diether, Le Marchand, Loic, Lee, Eunjung, Lee, Min Hyuk, Lee, Jong Won, Neng Lee, Chuen, Lejbkowicz, Flavio, Li, Jingmei, Lilyquist, Jenna, Lindblom, Annika, Lissowska, Jolanta, Lo, Wing-Yee, Loibl, Sibylle, Long, Jirong, Lophatananon, Artitaya, Lubinski, Jan, Luccarini, Craig, Lux, Michael P., Ma, Edmond S. K., MacInnis, Robert J., Maishman, Tom, Makalic, Enes, Malone, Kathleen E., Kostovska, Ivana Maleva, Mannermaa, Arto, Manoukian, Siranoush, Manson, JoAnn E., Margolin, Sara, Mariapun, Shivaani, Martinez, Maria Elena, Matsuo, Keitaro, Mavroudis, Dimitrios, McKay, James, McLean, Catriona, Meijers-Heijboer, Hanne, Meindl, Alfons, Menéndez, Primitiva, Menon, Usha, Meyer, Jeffery, Miao, Hui, Miller, Nicola, Taib, Nur Aishah Mohd, Muir, Kenneth, Mulligan, Anna Marie, Mulot, Claire, Neuhausen, Susan L., Nevanlinna, Heli, Neven, Patrick, Nielsen, Sune F., Noh, Dong-Young, Nordestgaard, Børge G., Norman, Aaron, Olopade, Olufunmilayo I., Olson, Janet E., Olsson, Håkan, Olswold, Curtis, Orr, Nick, Pankratz, V. Shane, Park, Sue K., Park-Simon, Tjoung-Won, Lloyd, Rachel, Perez, Jose I. A., Peterlongo, Paolo, Peto, Julian, Phillips, Kelly-Anne, Pinchev, Mila, Plaseska-Karanfilska, Dijana, Prentice, Ross, Presneau, Nadege, Prokofyeva, Darya, Pugh, Elizabeth, Pylkäs, Katri, Rack, Brigitte, Radice, Paolo, Rahman, Nazneen, Rennert, Gadi, Rennert, Hedy S., Rhenius, Valerie, Romero, Atocha, Romm, Jane, Ruddy, Kathryn J., Rüdiger, Thomas, Rudolph, Anja, Ruebner, Matthias, Rutgers, Emiel J. T., Saloustros, Emmanouil, Sandler, Dale P., Sangrajrang, Suleeporn, Sawyer, Elinor J., Schmidt, Daniel F., Schmutzler, Rita K., Schneeweiss, Andreas, Schoemaker, Minouk J., Schumacher, Fredrick, Schürmann, Peter, Scott, Rodney J., Scott, Christopher, Seal, Sheila, Seynaeve, Caroline, Shah, Mitul, Sharma, Priyanka, Shen, Chen-Yang, Sheng, Grace, Sherman, Mark E., Shrubsole, Martha J., Shu, Xiao-Ou, Smeets, Ann, Sohn, Christof, Southey, Melissa C., Spinelli, John J., Stegmaier, Christa, Stewart-Brown, Sarah, Stone, Jennifer, Stram, Daniel O., Surowy, Harald, Swerdlow, Anthony, Tamimi, Rulla, Taylor, Jack A., Tengström, Maria, Teo, Soo H., Beth Terry, Mary, Tessier, Daniel C., Thanasitthichai, Somchai, Thöne, Kathrin, Tollenaar, Rob A. E. M., Tomlinson, Ian, Tong, Ling, Torres, Diana, Truong, Thérèse, Tseng, Chiu-Chen, Tsugane, Shoichiro, Ulmer, Hans-Ulrich, Ursin, Giske, Untch, Michael, Vachon, Celine, van Asperen, Christi J., Van Den Berg, David, van den Ouweland, Ans M. W., van der Kolk, Lizet, van der Luijt, Rob B., Vincent, Daniel, Vollenweider, Jason, Waisfisz, Quinten, Wang-Gohrke, Shan, Weinberg, Clarice R., Wendt, Camilla, Whittemore, Alice S., Wildiers, Hans, Willett, Walter, Winqvist, Robert, Wolk, Alicja, Wu, Anna H., Xia, Lucy, Yamaji, Taiki, Yang, Xiaohong R., Har Yip, Cheng, Yoo, Keun-Young, Yu, Jyh-Cherng, Zheng, Wei, Zheng, Ying, Zhu, Bin, Ziogas, Argyrios, Ziv, Elad, Lakhani, Sunil R., Antoniou, Antonis C., Droit, Arnaud, Andrulis, Irene L., Amos, Christopher I., Couch, Fergus J., Pharoah, Paul D. P., Chang-Claude, Jenny, Hall, Per, Hunter, David J., Milne, Roger L., García-Closas, Montserrat, Schmidt, Marjanka K., Chanock, Stephen J., Dunning, Alison M., Edwards, Stacey L., Bader, Gary D., Chenevix-Trench, Georgia, Simard, Jacques, Kraft, Peter, and Easton, Douglas F.

Published
2017
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9. Immunogenicity of heterologous prime/booster-inactivated and adenoviral-vectored COVID-19 vaccine: real-world data

Author

Wanlapakorn, Nasamon, primary, Suntronwong, Nungruthai, additional, Phowatthanasathian, Harit, additional, Yorsang, Ritthideach, additional, Thongmee, Thanunrat, additional, Vichaiwattana, Preeyaporn, additional, Auphimai, Chompoonut, additional, Wongsrisang, Lakkhana, additional, Klinfueng, Sirapa, additional, Sudhinaraset, Natthinee, additional, Thanasitthichai, Somchai, additional, Akksilp, Somsak, additional, and Poovorawan, Yong, additional

Published
2021
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13. rs2735383, located at a microRNA binding site in the 3'UTR of NBS1, is not associated with breast cancer risk

Author

Liu, Jingjing, Lončar, Ivona, Collée, J. Margriet, Bolla, Manjeet K., Dennis, Joe, Michailidou, Kyriaki, Wang, Qin, Andrulis, Irene L., Barile, Monica, Beckmann, Matthias W., Behrens, Sabine, Benitez, Javier, Blomqvist, Carl, Boeckx, Bram, Bogdanova, Natalia V., Bojesen, Stig E., Brauch, Hiltrud, Brennan, Paul, Brenner, Hermann, Broeks, Annegien, Burwinkel, Barbara, Chang-Claude, Jenny, Chen, Shou-Tung, Chenevix-Trench, Georgia, Cheng, Ching Y., Choi, Ji-Yeob, Couch, Fergus J., Cox, Angela, Cross, Simon S., Cuk, Katarina, Czene, Kamila, Dörk, Thilo, dos-Santos-Silva, Isabel, Fasching, Peter A., Figueroa, Jonine, Flyger, Henrik, García-Closas, Montserrat, Giles, Graham G., Glendon, Gord, Goldberg, Mark S., González-Neira, Anna, Guénel, Pascal, Haiman, Christopher A., Hamann, Ute, Hart, Steven N., Hartman, Mikael, Hatse, Sigrid, Hopper, John L., Ito, Hidemi, Jakubowska, Anna, Kabisch, Maria, Kang, Daehee, Kosma, Veli-Matti, Kristensen, Vessela N., Le Marchand, Loic, Lee, Eunjung, Li, Jingmei, Lophatananon, Artitaya, Jan Lubinski, Mannermaa, Arto, Matsuo, Keitaro, Milne, Roger L., Sahlberg, Kristine K., Ottestad, Lars, Kåresen, Rolf, Langerød, Anita, Schlichting, Ellen, Holmen, Marit Muri, Sauer, Toril, Haakensen, Vilde, Engebråten, Olav, Naume, Bjørn, Kiserud, Cecile E., Reinertsen, Kristin V., Helland, åslaug, Riis, Margit, Bukholm, Ida, Lønning, Per Eystein, Børresen-Dale, Anne-Lise, Grenaker Alnæs, Grethe I., Neuhausen, Susan L., Nevanlinna, Heli, Orr, Nick, Perez, Jose I. A., Peto, Julian, Putti, Thomas C., Pylkäs, Katri, Radice, Paolo, Sangrajrang, Suleeporn, Sawyer, Elinor J., Schmidt, Marjanka K., Schneeweiss, Andreas, Shen, Chen-Yang, Shrubsole, Martha J., Shu, Xiao-Ou, Simard, Jacques, Southey, Melissa C., Swerdlow, Anthony, Teo, Soo H., Tessier, Daniel C., Thanasitthichai, Somchai, Tomlinson, Ian, Torres, Diana, Truong, Thérèse, Tseng, Chiu-Chen, Vachon, Celine, Winqvist, Robert, Wu, Anna H., Yannoukakos, Drakoulis, Zheng, Wei, Hall, Per, Dunning, Alison M., Easton, Douglas F., Hooning, Maartje J., van den Ouweland, Ans M. W., Martens, John W. M., Hollestelle, Antoinette, European Research Council, United States of Department of Health & Human Services, Post-cancer GWAS Initiative, KWF Kankerbestrijding, NIH - National Cancer Institute (NCI) (Estados Unidos), Instituto de Salud Carlos III, California Breast Cancer Research Program, California Department of Public Health, Lon V. Smith Foundation, Federal Ministry of Education & Research (Alemania), Finlands Akademi (Finlandia), Ministry of Education, Culture, Sports, Science, and Technology (Japón), Japan Agency for Medical Research and Development, United States Army Medical Research and Development Command, National Health and Medical Research Council (Australia), Deutsche Krebshilfe, Quebec Breast Cancer Foundation, Canadian Institutes of Health Research, Ministry of Higher Education (Malasia), The Research Council of Norway, Southern and Eastern Norway Regional Health Authority, Norwegian Cancer Society, Survey and Biospecimen Shared Resource, Genetic Associations and Mechanisms in Oncology (GAME-ON) Initiative, BRL (Basic Research Laboratory) program through the National Research Foundation of Korea - Ministry of Education, Science and Technology, Agency for Science, Technology and Research (Singapur), NIH - National Cancer Institute (NCI). Specialized Programs of Research Excellence (SPOREs) (Estados Unidos), Hellenic Cooperative Oncology Group, Cancer Research UK (Reino Unido), Medical Oncology, Clinical Genetics, Clinicum, Department of Oncology, and Department of Obstetrics and Gynecology

Subjects
0301 basic medicine, Oncology, Colorectal cancer, Genome-wide association study, Cell Cycle Proteins, SUSCEPTIBILITY, DOUBLE-STRAND BREAKS, Bioinformatics, FUNCTIONAL POLYMORPHISM, 3123 Gynaecology and paediatrics, Risk Factors, Genotype, Odds Ratio, Medicine, Family history, 3' Untranslated Regions, GLU185GLN POLYMORPHISM, Multidisciplinary, BRCA1 Protein, Nuclear Proteins, POPULATIONS, Female, medicine.medical_specialty, PATHWAY GENES, 3122 Cancers, Breast Neoplasms, Polymorphism, Single Nucleotide, Article, 03 medical and health sciences, LUNG-CANCER, Breast cancer, SDG 3 - Good Health and Well-being, Internal medicine, Journal Article, Humans, Genetic Predisposition to Disease, GENOME-WIDE ASSOCIATION, Lung cancer, METAANALYSIS, Alleles, REPAIR, BRCA2 Protein, Binding Sites, business.industry, Odds ratio, medicine.disease, MicroRNAs, 030104 developmental biology, business, Breast feeding
Abstract

NBS1, also known as NBN, plays an important role in maintaining genomic stability. Interestingly, rs2735383 G > C, located in a microRNA binding site in the 3'-untranslated region (UTR) of NBS1, was shown to be associated with increased susceptibility to lung and colorectal cancer. However, the relation between rs2735383 and susceptibility to breast cancer is not yet clear. Therefore, we genotyped rs2735383 in 1,170 familial non-BRCA1/2 breast cancer cases and 1,077 controls using PCR-based restriction fragment length polymorphism (RFLP-PCR) analysis, but found no association between rs2735383CC and breast cancer risk (OR = 1.214, 95% CI = 0.936-1.574, P = 0.144). Because we could not exclude a small effect size due to a limited sample size, we further analyzed imputed rs2735383 genotypes (r2 > 0.999) of 47,640 breast cancer cases and 46,656 controls from the Breast Cancer Association Consortium (BCAC). However, rs2735383CC was not associated with overall breast cancer risk in European (OR = 1.014, 95% CI = 0.969-1.060, P = 0.556) nor in Asian women (OR = 0.998, 95% CI = 0.905-1.100, P = 0.961). Subgroup analyses by age, age at menarche, age at menopause, menopausal status, number of pregnancies, breast feeding, family history and receptor status also did not reveal a significant association. This study therefore does not support the involvement of the genotype at NBS1 rs2735383 in breast cancer susceptibility. We thank all the individuals who took part in these studies and all the researchers, clinicians, technicians and administrative staff who have enabled this work to be carried out. This study would not have been possible without the contributions of the following: Paul Pharoah (BCAC), Andrew Berchuck (OCAC), Rosalind A. Eeles, Ali Amin Al Olama, Zsofia Kote-Jarai and Sara Benlloch (PRACTICAL), Antonis Antoniou, Lesley McGuffog and Ken Offit (CIMBA), Andrew Lee, Ed Dicks, Craig Luccarini and the staff of the Centre for Genetic Epidemiology Laboratory, the staff of the CNIO genotyping unit, Francois Bacot, Daniel Vincent, Sylvie La Boissiere and Frederic Robidoux and the staff of the McGill University and Genome Quebec Innovation Centre, Sune F. Nielsen, Borge G. Nordestgaard, and the staff of the Copenhagen DNA laboratory, and Julie M. Cunningham, Sharon A. Windebank, Christopher A. Hilker, Jeffrey Meyer and the staff of Mayo Clinic Genotyping Core Facility; ABCFS: Maggie Angelakos, Judi Maskiell, Gillian Dite; ABCS: Blood bank Sanquin (The Netherlands); ACP: The ACP study wishes to thank the participants in the Thai Breast Cancer study. Special Thanks also go to the Thai Ministry of Public Health (MOPH), doctors and nurses who helped with the data collection process. Finally, the study would like to thank Dr Prat Boonyawongviroj, the former Permanent Secretary of MOPH and Dr Pornthep Siriwanarungsan, the Department Director-General of Disease Control who have supported the study throughout; BBCS: Eileen Williams, Elaine Ryder-Mills, Kara Sargus; BIGGS: Niall McInerney, Gabrielle Colleran, Andrew Rowan, Angela Jones; BSUCH: Peter Bugert, Medical Faculty Mannheim; CGPS: Staff and participants of the Copenhagen General Population Study. For the excellent technical assistance: Dorthe Uldall Andersen, Maria Birna Arnadottir, Anne Bank, Dorthe Kjeldgard Hansen. The Danish Cancer Biobank is acknowledged for providing infrastructure for the collection of blood samples for the cases; CNIO-BCS: Guillermo Pita, Charo Alonso, Nuria Alvarez, Pilar Zamora, Primitiva Menendez, the Human Genotyping-CEGEN Unit (CNIO); CTS: The CTS Steering Committee includes Leslie Bernstein, Susan Neuhausen, James Lacey, Sophia Wang, Huiyan Ma, and Jessica Clague DeHart at the Beckman Research Institute of City of Hope, Dennis Deapen, Rich Pinder, and Eunjung Lee at the University of Southern California, Pam Horn-Ross, Peggy Reynolds, Christina Clarke Dur and David Nelson at the Cancer Prevention Institute of California, Hoda Anton-Culver, Argyrios Ziogas, and Hannah Park at the University of California Irvine, and Fred Schumacher at Case Western University. Hartwig Ziegler, Sonja Wolf, Volker Hermann, Christa Stegmaier, Katja Butterbach; GENICA: The GENICA Network: Dr. Margarete Fischer-Bosch-Institute of Clinical Pharmacology, Stuttgart, and University of Tubingen, Germany [Hiltrud Brauch, Wing-Yee Lo, Christina Justenhoven], German Cancer Consortium (DKTK) and German Cancer Research Center (DKFZ) [Hiltrud Brauch], Department of Internal Medicine, Evangelische Kliniken Bonn gGmbH, Johanniter Krankenhaus, Bonn, Germany [Yon-Dschun Ko, Christian Baisch], Institute of Pathology, University of Bonn, Germany [HansPeter Fischer], Molecular Genetics of Breast Cancer, Deutsches Krebsforschungszentrum (DKFZ), Heidelberg, Germany [Ute Hamann], Institute for Prevention and Occupational Medicine of the German Social Accident Insurance, Institute of the Ruhr University Bochum (IPA), Bochum, Germany [Thomas Bruning, Beate Pesch, Sylvia Rabstein, Anne Lotz]; and Institute of Occupational Medicine and Maritime Medicine, University Medical Center Hamburg-Eppendorf, Germany [Volker Harth]; HEBCS: Kristiina Aittomaki, Sofia Khan, Taru A. Muranen, Kirsimari Aaltonen, Karl von Smitten, Irja Erkkila; HMBCS: Peter Hillemanns, Hans Christiansen and Johann H. Karstens; pKARMA: The Swedish Medical Research Counsel; KBCP: Eija Myohanen, Helena Kemilainen; kConFab/AOCS: We wish to thank Heather Thorne, Eveline Niedermayr, all the kConFab research nurses and staff, the heads and staff of the Family Cancer Clinics, and the Clinical Follow Up Study (which has received funding from the NHMRC, the National Breast Cancer Foundation, Cancer Australia, and the National Institute of Health (USA)) for their contributions to this resource, and the many families who contribute to kConFab; LAABC: We thank all the study participants and the entire data collection team, especially Annie Fung and June Yashiki; LMBC: Gilian Peuteman, Thomas Van Brussel, EvyVanderheyden and Kathleen Corthouts; MARIE: Anja Rudolph, Petra Seibold, Dieter Flesch-Janys, Judith Heinz, Nadia Obi, Ursula Eilber, Muhabbet Celik; MBCSG: Paolo Peterlongo of IFOM, the FIRC Institute of Molecular Oncology; Siranoush Manoukian, Bernard Peissel, Jacopo Azzollini, Daniela Zaffaroni and Lidia Pezzani of the Fondazione IRCCS Istituto Nazionale dei Tumori (INT); Bernardo Bonanni, and Irene Feroce of the Istituto Europeo di Oncologia (IEO) and the personnel of the Cogentech Cancer Genetic Test Laboratory; MTLGEBCS: We would like to thank Martine Tranchant (CHU de Quebec Research Center), Marie-France Valois, Annie Turgeon and Lea Heguy (McGill University Health Center, Royal Victoria Hospital; McGill University) for DNA extraction, sample management and skillful technical assistance. J.S. is Chairholder of the Canada Research Chair in Oncogenetics. We thank study partcipants and research staff (particularly Patsy Ng, Nurhidayu Hassan, Yoon Sook-Yee, Daphne Lee, Lee Sheau Yee, Phuah Sze Yee and Norhashimah Hassan) for their contributions and commitment to this study; NBCS: OSBREAC Investigators: Prof. Solveig Hofvind, PhD (Cancer Registry of Norway, Oslo, Norway, Oslo and Akershus University College of Applied Sciences, Faculty of Health Science, Oslo, Norway), Prof. Tone F. Bathen, PhD (Department of Circulation and Medical Imaging, Norwegian University of Science and Technology NTNU), Trondheim, Norway), Dr. Elin Borgen, MD (Department of Pathology, Division of Diagnostics and Intervention, Oslo University Hospital, Oslo, Norway), Prof. Em. Oystein Fodstad, MD (Department of Tumor Biology, Institute for Cancer Research, Oslo University Hospital, Oslo, Norway and Institute for Clinical Medicine, Faculty of Medicine, University of Oslo, Oslo, Norway), Dr. Oystein Garred, MD (Department of Pathology, Oslo University Hospital, Oslo, Norway), Gry Aarum Geitvik, Unit leader (Department of Cancer Genetics, Institute for Cancer Research, Oslo University Hospital-Radiumhospitalet, Oslo, Norway), Prof. Gunhild Mari Maelandsmo, PhD (Department of Tumor Biology, Institute for Cancer Research, Oslo University Hospital, Oslo, Norway, Department of Pharmacy, Faculty of Health Sciences, University of Tromso, Tromso, Norway), Dr. Hege G Russnes, MD (Department of Cancer Genetics, Institute for Cancer Research, Oslo University Hospital-Radiumhospitalet, Oslo, Norway and Department of Pathology, Oslo University Hospital, Oslo, Norway), Dr. Therese Sorlie, PhD (Department of Cancer Genetics, Institute for Cancer Research, Oslo University Hospital-Radiumhospitalet, Oslo, Norway), Prof. Ole Christian Lingjorde, PhD (Centre for Cancer Biomedicine, University of Oslo, Oslo, Norway and Department of Computer Science, University of Oslo, Oslo, Norway), Dr. Helle Kristine Skjerven, MD (Breast and Endocrine Surgery, Department of Breast and Endocrine Surgery, Vestre Viken Hospital, Drammen, Norway), Dr. Britt Fritzman, MD (Ostfold Hospital, Ostfold, Norway); NBHS: We thank study participants and research staff for their contributions and commitment to this study; OBCS: We thank Arja Jukkola-Vuorinen, Mervi Grip, Saila Kauppila, Meeri Otsukka, Leena Keskitalo and Kari Mononen for their contributions to this study; OFBCR: Teresa Selander, Nayana Weerasooriya; PBCS: Louise Brinton, Mark Sherman, Neonila Szeszenia-Dabrowska, Beata Peplonska, Witold Zatonski, Pei Chao, Michael Stagner; RBCS: Petra Bos, Jannet Blom, Ellen Crepin, Elisabeth Huijskens, Anja Kromwijk-Nieuwlaat, Annette Heemskerk, the Erasmus MC Family Cancer Clinic; SASBAC: The Swedish Medical Research Counsel; SBCGS: We thank study partcipants and research staff for their contributions and commitment to this study; SBCS: Sue Higham, Helen Cramp, Dan Connley, Ian Brock, Sabapathy Balasubramanian and Malcolm W.R. Reed; SEARCH: The SEARCH and EPIC teams; SGBCC: We thank the participants and research coordinator Ms Tan Siew Li; SKKDKFZS: We thank all study participants, clinicians, family doctors, researchers and technicians for their contributions and commitment to this study; SZBCS: Ewa Putresza; UKBGS: We thank Breast Cancer Now and the Institute of Cancer Research for support and funding of the Breakthrough Generations Study, and the study participants, study staff, and the doctors, nurses and other health care providers and health information sources who have contributed to the study. We acknowledge NHS funding to the Royal Marsden/ICR NIHR Biomedical Research Centre. This study was funded by the Cancer Genomics Netherlands (CGC.nl) and a grant for the Netherlands Organization of Scientific Research (NWO). J Liu received a scholarship from the China Scholarship Council (Beijing, China). BCAC is funded by Cancer Research UK [C1287/A10118, C1287/A12014] and by the European Community's Seventh Framework Programme under grant agreement number 223175 (grant number HEALTH-F2-2009-223175) (COGS). Funding for the iCOGS infrastructure came from: the European Community's Seventh Framework Programme under grant agreement no 223175 (HEALTH-F2-2009-223175) (COGS), Cancer Research UK (C1287/A10118, C1287/A 10710, C12292/A11174, C1281/A12014, C5047/A8384, C5047/A15007, C5047/A10692, C8197/A16565), the National Institutes of Health (CA128978) and Post-Cancer GWAS initiative (1U19 CA148537, 1U19 CA148065 and 1U19 CA148112 - the GAME-ON initiative), the Department of Defence (W81XWH-10-1-0341), the Canadian Institutes of Health Research (CIHR) for the CIHR Team in Familial Risks of Breast Cancer, Komen Foundation for the Cure, the Breast Cancer Research Foundation, and the Ovarian Cancer Research Fund. The Australian Breast Cancer Family Study (ABCFS) was supported by grant UM1 CA164920 from the National Cancer Institute (USA). The content of this manuscript does not necessarily reflect the views or policies of the National Cancer Institute or any of the collaborating centers in the Breast Cancer Family Registry (BCFR), nor does mention of trade names, commercial products, or organizations imply endorsement by the USA Government or the BCFR. The ABCFS was also supported by the National Health and Medical Research Council of Australia, the New South Wales Cancer Council, the Victorian Health Promotion Foundation (Australia) and the Victorian Breast Cancer Research Consortium. J.L.H. is a National Health and Medical Research Council (NHMRC) Senior Principal Research Fellow. M.C.S. is a NHMRC Senior Research Fellow. The ABCS study was supported by the Dutch Cancer Society [grants NKI 2007-3839; 2009 4363]. The ACP study is funded by the Breast Cancer Research Trust, UK. The work of the BBCC was partly funded by ELAN-Fond of the University Hospital of Erlangen. The BBCS is funded by Cancer Research UK and Breast Cancer Now and acknowledges NHS funding to the NIHR Biomedical Research Centre, and the National Cancer Research Network (NCRN). ES is supported by NIHR Comprehensive Biomedical Research Centre, Guy's & St. Thomas' NHS Foundation Trust in partnership with King's College London, United Kingdom. IT is supported by the Oxford Biomedical Research Centre. The BSUCH study was supported by the Dietmar-Hopp Foundation, the Helmholtz Society and the German Cancer Research Center (DKFZ). The CECILE study was supported by Fondation de France, Institut National du Cancer (INCa), Ligue Nationale contre le Cancer, Agence Nationale de Securite Sanitaire, de l'Alimentation, de l'Environnement et du Travail (ANSES), Agence Nationale de la Recherche (ANR). The CGPS was supported by the Chief Physician Johan Boserup and Lise Boserup Fund, the Danish Medical Research Council, and Herlev and Gentofte Hospital. The CNIO-BCS was supported by the Instituto de Salud Carlos III (CEGEN) and grants from the Fondo de Investigacion Sanitario (PI11/00923 and PI12/00070) with FEDER funds and H2020 (BRIDGES project). The CTS was initially supported by the California Breast Cancer Act of 1993 and the California Breast Cancer Research Fund (contract 97-10500) and is currently funded through the National Institutes of Health (R01 CA77398, UM1 CA164917, and U01 CA199277). Collection of cancer incidence data was supported by the California Department of Public Health as part of the statewide cancer reporting program mandated by California Health and Safety Code Section 103885. HAC receives support from the Lon V Smith Foundation (LVS39420). The ESTHER study was supported by a grant from the Baden Wurttemberg Ministry of Science, Research and Arts. Additional cases were recruited in the context of the VERDI study, which was supported by a grant from the German Cancer Aid (Deutsche Krebshilfe). The GENICA was funded by the Federal Ministry of Education and Research (BMBF) Germany grants 01KW9975/5, 01KW9976/8, 01KW9977/0 and 01KW0114, the Robert Bosch Foundation, Stuttgart, Deutsches Krebsforschungszentrum (DKFZ), Heidelberg, the Institute for Prevention and Occupational Medicine of the German Social Accident Insurance, Institute of the Ruhr University Bochum (IPA), Bochum, as well as the Department of Internal Medicine, Evangelische Kliniken Bonn gGmbH, Johanniter Krankenhaus, Bonn, Germany. The HEBCS was financilly supported by the Helsinki University Central Hospital Research Fund, Academy of Finland (266528), the Finnish Cancer Society, The Nordic Cancer Union and the Sigrid Juselius Foundation. The HERPACC was supported by MEXT Kakenhi (No. 170150181 and 26253041) from the Ministry of Education, Science, Sports, Culture and Technology of Japan, by a Grant-in-Aid for the Third Term Comprehensive 10-Year Strategy for Cancer Control from Ministry Health, Labour and Welfare of Japan, by Health and Labour Sciences Research Grants for Research on Applying Health Technology from Ministry Health, Labour and Welfare of Japan, by National Cancer Center Research and Development Fund, and "Practical Research for Innovative Cancer Control (15ck0106177h0001)" from Japan Agency for Medical Research and development, AMED, and Cancer Bio Bank Aichi. The HMBCS was supported by a grant from the Friends of Hannover Medical School and by the Rudolf Bartling Foundation. The pKARMA study was supported by Merit and Hans Rausings Initiative Against Breast Cancer. The KBCP was financially supported by the special Government Funding (EVO) of Kuopio University Hospital grants, Cancer Fund of North Savo, the Finnish Cancer Organizations, and by the strategic funding of the University of Eastern Finland. kConFab is supported by a grant from the National Breast Cancer Foundation, and previously by the National Health and Medical Research Council (NHMRC), the Queensland Cancer Fund, the Cancer Councils of New South Wales, Victoria, Tasmania and South Australia, and the Cancer Foundation of Western Australia. Financial support for the AOCS was provided by the United States Army Medical Research and Materiel Command [DAMD17-01-1-0729], Cancer Council Victoria, Queensland Cancer Fund, Cancer Council New South Wales, Cancer Council South Australia, The Cancer Foundation of Western Australia, Cancer Council Tasmania and the National Health and Medical Research Council of Australia (NHMRC; 400413, 400281, 199600). G.C.T. and P.W. are supported by the NHMRC. RB was a Cancer Institute NSW Clinical Research Fellow. LAABC is supported by grants (1RB-0287, 3PB-0102, 5PB-0018, 10PB-0098) from the California Breast Cancer Research Program. Incident breast cancer cases were collected by the USC Cancer Surveillance Program (CSP) which is supported under subcontract by the California Department of Health. The CSP is also part of the National Cancer Institute's Division of Cancer Prevention and Control Surveillance, Epidemiology, and End Results Program, under contract number N01CN25403. LMBC is supported by the 'Stichting tegen Kanker'. Diether Lambrechts is supported by the FWO. The MARIE study was supported by the Deutsche Krebshilfe e.V. [70-2892-BR I, 106332, 108253, 108419, 110826, 110828], the Hamburg Cancer Society, the German Cancer Research Center (DKFZ) and the Federal Ministry of Education and Research (BMBF) Germany [01KH0402]. MBCSG is supported by grants from the Italian Association for Cancer Research (AIRC) and by funds from the Italian citizens who allocated the 5/1000 share of their tax payment in support of the Fondazione IRCCS Istituto Nazionale Tumori, according to Italian laws (INT-Institutional strategic projects "5 x 1000"). The MCBCS was supported by the NIH grants CA192393, CA116167, CA176785 an NIH Specialized Program of Research Excellence (SPORE) in Breast Cancer [CA116201], and the Breast Cancer Research Foundation and a generous gift from the David F. and Margaret T. Grohne Family Foundation. MCCS cohort recruitment was funded by VicHealth and Cancer Council Victoria. The MCCS was further supported by Australian NHMRC grants 209057, 251553 and 504711 and by infrastructure provided by Cancer Council Victoria. Cases and their vital status were ascertained through the Victorian Cancer Registry (VCR) and the Australian Institute of Health and Welfare (AIHW), including the National Death Index and the Australian Cancer Database. The MEC was support by NIH grants CA63464, CA54281, CA098758, CA132839 and CA164973. The work of MTLGEBCS was supported by the Quebec Breast Cancer Foundation, the Canadian Institutes of Health Research for the " CIHR Team in Familial Risks of Breast Cancer" program grant #CRN-87521 and the Ministry of Economic Development, Innovation and Export Trade - grant # PSR-SIIRI-701. MYBRCA is funded by research grants from the Malaysian Ministry of Higher Education (UM.C/HlR/MOHE/06) and Cancer Research Malaysia. MYMAMMO is supported by research grants from Yayasan Sime Darby LPGA Tournament and Malaysian Ministry of Higher Education (RP046B-15HTM). The NBCS has been supported by the Research Council of Norway grant 193387/V50 (to A-L Borresen-Dale and V.N. Kristensen) and grant 193387/H10 (to A-L Borresen-Dale and V.N. Kristensen), South Eastern Norway Health Authority (grant 39346 to A-L Borresen-Dale and 27208 to V. N. Kristensen) and the Norwegian Cancer Society (to A-L Borresen-Dale and 419616-71248 -PR-2006-0282 to V. N. Kristensen). It has received funding from the K. G. Jebsen Centre for Breast Cancer Research (2012-2015). The NBHS was supported by NIH grant R01CA100374. Biological sample preparation was conducted the Survey and Biospecimen Shared Resource, which is supported by P30 CA68485. The OBCS was supported by research grants from the Finnish Cancer Foundation, the Academy of Finland (grant number 250083, 122715 and Center of Excellence grant number 251314), the Finnish Cancer Foundation, the Sigrid Juselius Foundation, the University of Oulu, the University of Oulu Support Foundation and the special Governmental EVO funds for Oulu University Hospital-based research activities. The Ontario Familial Breast Cancer Registry (OFBCR) was supported by grant UM1 CA164920 from the National Cancer Institute (USA). The content of this manuscript does not necessarily reflect the views or policies of the National Cancer Institute or any of the collaborating centers in the Breast Cancer Family Registry (BCFR), nor does mention of trade names, commercial products, or organizations imply endorsement by the USA Government or the BCFR. The PBCS was funded by Intramural Research Funds of the National Cancer Institute, Department of Health and Human Services, USA. The RBCS was funded by the Dutch Cancer Society (DDHK 2004-3124, DDHK 2009-4318). The SASBAC study was supported by funding from the Agency for Science, Technology and Research of Singapore (A*STAR), the US National Institute of Health (NIH) and the Susan G. Komen Breast Cancer Foundation. The SBCGS was supported primarily by NIH grants R01CA64277, R01CA148667, UMCA182910, and R37CA70867. Biological sample preparation was conducted the Survey and Biospecimen Shared Resource, which is supported by P30 CA68485. The scientific development and funding of this project were, in part, supported by the Genetic Associations and Mechanisms in Oncology (GAME-ON) Network U19 CA148065. The SBCS was supported by Sheffield Experimental Cancer Medicine Centre and Breast Cancer Now. SEARCH is funded by a programme grant from Cancer Research UK [C490/A10124] and supported by the UK National Institute for Health Research Biomedical Research Centre at the University of Cambridge. SEBCS was supported by the BRL (Basic Research Laboratory) program through the National Research Foundation of Korea funded by the Ministry of Education, Science and Technology (2012-0000347). SGBCC is funded by the NUS start-up Grant, National University Cancer Institute Singapore (NCIS) Centre Grant and the NMRC Clinician Scientist Award. Additional controls were recruited by the Singapore Consortium of Cohort Studies- Multi-ethnic cohort (SCCS-MEC), which was funded by the Biomedical Research Council, grant number: 05/1/21/19/425. SKKDKFZS is supported by the DKFZ. The SZBCS was supported by Grant PBZ_KBN_122/P05/2004. The TBCS was funded by The National Cancer Institute Thailand. The TNBCC was supported by: a Specialized Program of Research Excellence (SPORE) in Breast Cancer (CA116201), a grant from the Breast Cancer Research Foundation, a generous gift from the David F. and Margaret T. Grohne Family Foundation; the Hellenic Cooperative Oncology Group research grant (HR R_BG/04) and the Greek General Secretary for Research and Technology (GSRT) Program, Research Excellence II, the European Union (European Social Fund - ESF), and Greek national funds through the Operational Program "Education and Lifelong Learning" of the National Strategic Reference Framework (NSRF) - ARISTEIA. The TWBCS is supported by the Taiwan Biobank project of the Institute of Biomedical Sciences, Academia Sinica, Taiwan. The UKBGS is funded by Breast Cancer Now and the Institute of Cancer Research (ICR), London. ICR acknowledges NHS funding to the NIHR Biomedical Research Centre. Sí

Published
2016

16. An Impact of Helicobacter pylori Eradication after Simple Closure of Perforated Peptic Ulcer: A Prospective Randomized Trial.

Author

Kasetsuwan, Petch, Thanasitthichai, Somchai, and Krailadsiri, Wanchai

Subjects
*HELICOBACTER pylori, *HELICOBACTER, *ULCERS, *SURGERY, *MEDICINE
Abstract

Background: This study was carried out to evaluate the relationship of Helicobacter pylori (H. pylori) infection in perforated peptic ulcer patients and the benefit of H. pylori eradication on ulcer healing and ulcer recurrence after simple closure of perforated ulcer. Materials and Methods: Sixty-six patients with perforated peptic ulcer were treated by simple closure with omental patch and intraoperative esophagogastroduodenoscopy (EGD) to assess H. pylori infection status. Patients were randomized into two groups; control group (group 1) received Omeprazole regardless of H. pylori status whereas the study group (group 2) H. pylori positive patients received a course of anti-H. pylori therapy. Follow-up EGD was performed at 2 months, and at 1 year after hospital discharge to evaluate ulcer healing and ulcer recurrence respectively. Results: H. pylori infection rate was 86.3%, 50% and 92.8% in overall perforated ulcer, perforated gastric ulcer and perforated duodenal ulcer respectively. Ten patients did not return at 2 months for endoscopic follow-up. Of fifty-six patients, twenty-nine in group 1 and twenty-seven in group 2 underwent EGD at 2 months follow-up and revealed initial ulcer healing rate of 65.5% and 88.8% respectively (P = 0.038) . At 1 year follow- up, ulcer recurrence rate of patients in group I was significantly higher than patients in group 2 (36.8% and 5%, P = 0.02). Conclusion: This study confirms a close relationship between H. pylori infection and perforated peptic ulcer. H. pylori eradication after simple closure and omental patch can promote initial ulcer healing and prevent ulcer recurrence as well. Immediate acid reduction surgery should be reserved only for patients who have obvious risk of gastric outlet obstruction. [ABSTRACT FROM AUTHOR]

Published
2004

17. Breast Cancer Risk Genes - Association Analysis in More than 113,000 Women

Author

Breast Cancer Association Consortium, Dorling, Leila, Carvalho, Sara, Allen, Jamie, González-Neira, Anna, Luccarini, Craig, Wahlström, Cecilia, Pooley, Karen A, Parsons, Michael T, Fortuno, Cristina, Wang, Qin, Bolla, Manjeet K, Dennis, Joe, Keeman, Renske, Alonso, M Rosario, Álvarez, Nuria, Herraez, Belen, Fernandez, Victoria, Núñez-Torres, Rocio, Osorio, Ana, Valcich, Jeanette, Li, Minerva, Törngren, Therese, Harrington, Patricia A, Baynes, Caroline, Conroy, Don M, Decker, Brennan, Fachal, Laura, Mavaddat, Nasim, Ahearn, Thomas, Aittomäki, Kristiina, Antonenkova, Natalia N, Arnold, Norbert, Arveux, Patrick, Ausems, Margreet GEM, Auvinen, Päivi, Becher, Heiko, Beckmann, Matthias W, Behrens, Sabine, Bermisheva, Marina, Białkowska, Katarzyna, Blomqvist, Carl, Bogdanova, Natalia V, Bogdanova-Markov, Nadja, Bojesen, Stig E, Bonanni, Bernardo, Børresen-Dale, Anne-Lise, Brauch, Hiltrud, Bremer, Michael, Briceno, Ignacio, Brüning, Thomas, Burwinkel, Barbara, Cameron, David A, Camp, Nicola J, Campbell, Archie, Carracedo, Angel, Castelao, Jose E, Cessna, Melissa H, Chanock, Stephen J, Christiansen, Hans, Collée, J Margriet, Cordina-Duverger, Emilie, Cornelissen, Sten, Czene, Kamila, Dörk, Thilo, Ekici, Arif B, Engel, Christoph, Eriksson, Mikael, Fasching, Peter A, Figueroa, Jonine, Flyger, Henrik, Försti, Asta, Gabrielson, Marike, Gago-Dominguez, Manuela, Georgoulias, Vassilios, Gil, Fabian, Giles, Graham G, Glendon, Gord, Garcia, Encarna B Gómez, Alnæs, Grethe I Grenaker, Guénel, Pascal, Hadjisavvas, Andreas, Haeberle, Lothar, Hahnen, Eric, Hall, Per, Hamann, Ute, Harkness, Elaine F, Hartikainen, Jaana M, Hartman, Mikael, He, Wei, Heemskerk-Gerritsen, Bernadette AM, Hillemanns, Peter, Hogervorst, Frans BL, Hollestelle, Antoinette, Ho, Weang Kee, Hooning, Maartje J, Howell, Anthony, Humphreys, Keith, Idris, Faiza, Jakubowska, Anna, Jung, Audrey, Kapoor, Pooja Middha, Kerin, Michael J, Khusnutdinova, Elza, Kim, Sung-Won, Ko, Yon-Dschun, Kosma, Veli-Matti, Kristensen, Vessela N, Kyriacou, Kyriacos, Lakeman, Inge MM, Lee, Jong Won, Lee, Min Hyuk, Li, Jingmei, Lindblom, Annika, Lo, Wing-Yee, Loizidou, Maria A, Lophatananon, Artitaya, Lubiński, Jan, MacInnis, Robert J, Madsen, Michael J, Mannermaa, Arto, Manoochehri, Mehdi, Manoukian, Siranoush, Margolin, Sara, Martinez, Maria Elena, Maurer, Tabea, Mavroudis, Dimitrios, McLean, Catriona, Meindl, Alfons, Mensenkamp, Arjen R, Michailidou, Kyriaki, Miller, Nicola, Mohd Taib, Nur Aishah, Muir, Kenneth, Mulligan, Anna Marie, Nevanlinna, Heli, Newman, William G, Nordestgaard, Børge G, Ng, Pei-Sze, Oosterwijk, Jan C, Park, Sue K, Park-Simon, Tjoung-Won, Perez, Jose IA, Peterlongo, Paolo, Porteous, David J, Prajzendanc, Karolina, Prokofyeva, Darya, Radice, Paolo, Rashid, Muhammad U, Rhenius, Valerie, Rookus, Matti A, Rüdiger, Thomas, Saloustros, Emmanouil, Sawyer, Elinor J, Schmutzler, Rita K, Schneeweiss, Andreas, Schürmann, Peter, Shah, Mitul, Sohn, Christof, Southey, Melissa C, Surowy, Harald, Suvanto, Maija, Thanasitthichai, Somchai, Tomlinson, Ian, Torres, Diana, Truong, Thérèse, Tzardi, Maria, Valova, Yana, Van Asperen, Christi J, Van Dam, Rob M, Van Den Ouweland, Ans MW, Van Der Kolk, Lizet E, Van Veen, Elke M, Wendt, Camilla, Williams, Justin A, Yang, Xiaohong R, Yoon, Sook-Yee, Zamora, M Pilar, Evans, D Gareth, De La Hoya, Miguel, Simard, Jacques, Antoniou, Antonis C, Borg, Åke, Andrulis, Irene L, Chang-Claude, Jenny, García-Closas, Montserrat, Chenevix-Trench, Georgia, Milne, Roger L, Pharoah, Paul DP, Schmidt, Marjanka K, Spurdle, Amanda B, Vreeswijk, Maaike PG, Benitez, Javier, Dunning, Alison M, Kvist, Anders, Teo, Soo H, Devilee, Peter, and Easton, Douglas F

Subjects
Adult, Aged, 80 and over, Risk, Adolescent, Age Factors, Mutation, Missense, Genetic Variation, Breast Neoplasms, Sequence Analysis, DNA, Middle Aged, 3. Good health, Young Adult, Logistic Models, Odds Ratio, Humans, Female, Genetic Predisposition to Disease, skin and connective tissue diseases, Aged
Abstract

BACKGROUND: Genetic testing for breast cancer susceptibility is widely used, but for many genes, evidence of an association with breast cancer is weak, underlying risk estimates are imprecise, and reliable subtype-specific risk estimates are lacking. METHODS: We used a panel of 34 putative susceptibility genes to perform sequencing on samples from 60,466 women with breast cancer and 53,461 controls. In separate analyses for protein-truncating variants and rare missense variants in these genes, we estimated odds ratios for breast cancer overall and tumor subtypes. We evaluated missense-variant associations according to domain and classification of pathogenicity. RESULTS: Protein-truncating variants in 5 genes (ATM, BRCA1, BRCA2, CHEK2, and PALB2) were associated with a risk of breast cancer overall with a P value of less than 0.0001. Protein-truncating variants in 4 other genes (BARD1, RAD51C, RAD51D, and TP53) were associated with a risk of breast cancer overall with a P value of less than 0.05 and a Bayesian false-discovery probability of less than 0.05. For protein-truncating variants in 19 of the remaining 25 genes, the upper limit of the 95% confidence interval of the odds ratio for breast cancer overall was less than 2.0. For protein-truncating variants in ATM and CHEK2, odds ratios were higher for estrogen receptor (ER)-positive disease than for ER-negative disease; for protein-truncating variants in BARD1, BRCA1, BRCA2, PALB2, RAD51C, and RAD51D, odds ratios were higher for ER-negative disease than for ER-positive disease. Rare missense variants (in aggregate) in ATM, CHEK2, and TP53 were associated with a risk of breast cancer overall with a P value of less than 0.001. For BRCA1, BRCA2, and TP53, missense variants (in aggregate) that would be classified as pathogenic according to standard criteria were associated with a risk of breast cancer overall, with the risk being similar to that of protein-truncating variants. CONCLUSIONS: The results of this study define the genes that are most clinically useful for inclusion on panels for the prediction of breast cancer risk, as well as provide estimates of the risks associated with protein-truncating variants, to guide genetic counseling. (Funded by European Union Horizon 2020 programs and others.).

18. Breast Cancer Risk Genes — Association Analysis in More than 113,000 Women

Author

Pontificia Universidad Javeriana. Facultad de Medicina. Instituto de Genética Humana. Grupo de investigación Instituto de Genética Humana, Briceño Balcázar, Ignacio, Gil, Fabian, Torres-López, Diana María, Dorling, Leila, Carvalho, Sara, Allen, Jamie, González-Neira, Anna, Luccarini, Craig, Wahlström, Cecilia, Pooley, Karen A., Parsons, Michael T., Fortuno, Cristina, Wang, Qin, Bolla, Manjeet K., Dennis, Joe, Keeman, Renske, Alonso, M. Rosario, Álvarez, Nuria, Herraez, Belen, Fernandez, Victoria, Núñez-Torres, Rocio, Osorio, Ana, Valcich, Jeanette, Li, Minerva, Törngren, Therese, Harrington, Patricia A., Baynes, Caroline, Conroy, Don M., Decker, Brennan, Fachal, Laura, Mavaddat, Nasim, Ahearn, Thomas, Aittomäki, Kristiina, Antonenkova, Natalia N., Arnold, Norbert, Arveux, Patrick, Ausems, Margreet G.E.M., Auvinen, Päivi, Becher, Heiko, Beckmann, Matthias W., Behrens, Sabine, Bermisheva, Marina, Białkowska, Katarzyna, Blomqvist, Carl, Bogdanova, Natalia V., Bogdanova-Markov, Nadja, Bojesen, Stig E., Bonanni, Bernardo, Børresen-Dale, Anne-Lise, Brauch, Hiltrud, Bremer, Michael, Brüning, Thomas, Burwinkel, Barbara, Cameron, David A., Camp, Nicola J., Campbell, Archie, Carracedo, Angel, Castelao, Jose E., Cessna, Melissa H., Chanock, Stephen J., Christiansen, Hans, Collée, J. Margriet, Cordina-Duverger, Emilie, Cornelissen, Sten, Czene, Kamila, Dörk, Thilo, Ekici, Arif B., Engel, Christoph, Eriksson, Mikael, Fasching, Peter A., Figueroa, Jonine, Flyger, Henrik, Försti, Asta, Gabrielson, Marike, Gago-Dominguez, Manuela, Georgoulias, Vassilios, Giles, Graham G., Glendon, Gord, Gómez Garcia, Encarna B., Grenaker Alnæs, Grethe I., Guénel, Pascal, Hadjisavvas, Andreas, Haeberle, Lothar, Hahnen, Eric, Hall, Per, Hamann, Ute, Harkness, Elaine F., Hartikainen, Jaana M., Hartman, Mikael, He, Wei, Heemskerk-Gerritsen, Bernadette A. M., Hillemanns, Peter, Hogervorst, Frans B. L., Hollestelle, Antoinette, Kee Ho, Weang, Hooning, Maartje J., Howell, Anthony, Humphreys, Keith, Idris, Faiza, Jakubowska, Anna, Jung, Audrey, Middha Kapoor, Pooja, Kerin, Michael J., Khusnutdinova, Elza, Kim, Sung-Won, Ko, Yon-Dschun, Kosma, Veli-Matti, Kristensen, Vessela N., Kyriacou, Kyriacos, Lakeman, Inge M. M., Won Lee, Jong, Hyuk Lee, Min, Li, Jingmei, Lindblom, Annika, Lo, Wing-Yee, Loizidou, Maria A., Lophatananon, Artitaya, Lubiński, Jan, MacInnis, Robert J., Madsen, Michael J., Mannermaa, Arto, Manoochehri, Mehdi, Manoukian, Siranoush, Margolin, Sara, Martinez, Maria Elena, Maurer, Tabea, Mavroudis, Dimitrios, McLean, Catriona, Meindl, Alfons, Mensenkamp, Arjen R., Michailidou, Kyriaki, Miller, Nicola, Mohd Taib, Nur Aishah, Muir, Kenneth, Mulligan, Anna Marie, Nevanlinna, Heli, Newman, William G., Nordestgaard, Børge G., Ng, Pei-Sze, Oosterwijk, Jan C., Park, Sue K., Park-Simon, Tjoung-Won, Perez, Jose I.A., Peterlongo, Paolo, Porteous, David J., Prajzendanc, Karolina, Prokofyeva, Darya, Radice, Paolo, Rashid, Muhammad U., Rhenius, Valerie, Rookus, Matti A., Rüdiger, Thomas, Saloustros, Emmanouil, Sawyer, Elinor J., Schmutzler, Rita K., Schneeweiss, Andreas, Schürmann, Peter, Shah, Mitul, Sohn, Christof, Southey, Melissa C., Surowy, Harald, Suvanto, Maija, Thanasitthichai, Somchai, Tomlinson, Ian, Truong, Thérèse, Tzardi, Maria, Valova, Yana, van Asperen, Christi J., Van Dam, Rob M., van den Ouweland, Ans M.W., van der Kolk, Lizet E., van Veen, Elke M., Wendt, Camilla, Williams, Justin A., Yang, Xiaohong R., Yoon, Sook-Yee, Zamora, M. Pilar, Evans, Gareth D., de la Hoya, Miguel, Simard, Jacques, Antoniou, Antonis C., Borg, Åke, Andrulis, Irene L., Chang-Claude, Jenny, García-Closas, Montserrat, Chenevix-Trench, Georgia, Milne, Roger L., Pharoah, Paul D. P., Schmidt, Marjanka K., Spurdle, Amanda B., Vreeswijk, Maaike P.G., Benitez, Javier, Dunning, Alison M., Kvist, Anders, Teo, Soo H., Devilee, Peter, Easton, Douglas F., Pontificia Universidad Javeriana. Facultad de Medicina. Instituto de Genética Humana. Grupo de investigación Instituto de Genética Humana, Briceño Balcázar, Ignacio, Gil, Fabian, Torres-López, Diana María, Dorling, Leila, Carvalho, Sara, Allen, Jamie, González-Neira, Anna, Luccarini, Craig, Wahlström, Cecilia, Pooley, Karen A., Parsons, Michael T., Fortuno, Cristina, Wang, Qin, Bolla, Manjeet K., Dennis, Joe, Keeman, Renske, Alonso, M. Rosario, Álvarez, Nuria, Herraez, Belen, Fernandez, Victoria, Núñez-Torres, Rocio, Osorio, Ana, Valcich, Jeanette, Li, Minerva, Törngren, Therese, Harrington, Patricia A., Baynes, Caroline, Conroy, Don M., Decker, Brennan, Fachal, Laura, Mavaddat, Nasim, Ahearn, Thomas, Aittomäki, Kristiina, Antonenkova, Natalia N., Arnold, Norbert, Arveux, Patrick, Ausems, Margreet G.E.M., Auvinen, Päivi, Becher, Heiko, Beckmann, Matthias W., Behrens, Sabine, Bermisheva, Marina, Białkowska, Katarzyna, Blomqvist, Carl, Bogdanova, Natalia V., Bogdanova-Markov, Nadja, Bojesen, Stig E., Bonanni, Bernardo, Børresen-Dale, Anne-Lise, Brauch, Hiltrud, Bremer, Michael, Brüning, Thomas, Burwinkel, Barbara, Cameron, David A., Camp, Nicola J., Campbell, Archie, Carracedo, Angel, Castelao, Jose E., Cessna, Melissa H., Chanock, Stephen J., Christiansen, Hans, Collée, J. Margriet, Cordina-Duverger, Emilie, Cornelissen, Sten, Czene, Kamila, Dörk, Thilo, Ekici, Arif B., Engel, Christoph, Eriksson, Mikael, Fasching, Peter A., Figueroa, Jonine, Flyger, Henrik, Försti, Asta, Gabrielson, Marike, Gago-Dominguez, Manuela, Georgoulias, Vassilios, Giles, Graham G., Glendon, Gord, Gómez Garcia, Encarna B., Grenaker Alnæs, Grethe I., Guénel, Pascal, Hadjisavvas, Andreas, Haeberle, Lothar, Hahnen, Eric, Hall, Per, Hamann, Ute, Harkness, Elaine F., Hartikainen, Jaana M., Hartman, Mikael, He, Wei, Heemskerk-Gerritsen, Bernadette A. M., Hillemanns, Peter, Hogervorst, Frans B. L., Hollestelle, Antoinette, Kee Ho, Weang, Hooning, Maartje J., Howell, Anthony, Humphreys, Keith, Idris, Faiza, Jakubowska, Anna, Jung, Audrey, Middha Kapoor, Pooja, Kerin, Michael J., Khusnutdinova, Elza, Kim, Sung-Won, Ko, Yon-Dschun, Kosma, Veli-Matti, Kristensen, Vessela N., Kyriacou, Kyriacos, Lakeman, Inge M. M., Won Lee, Jong, Hyuk Lee, Min, Li, Jingmei, Lindblom, Annika, Lo, Wing-Yee, Loizidou, Maria A., Lophatananon, Artitaya, Lubiński, Jan, MacInnis, Robert J., Madsen, Michael J., Mannermaa, Arto, Manoochehri, Mehdi, Manoukian, Siranoush, Margolin, Sara, Martinez, Maria Elena, Maurer, Tabea, Mavroudis, Dimitrios, McLean, Catriona, Meindl, Alfons, Mensenkamp, Arjen R., Michailidou, Kyriaki, Miller, Nicola, Mohd Taib, Nur Aishah, Muir, Kenneth, Mulligan, Anna Marie, Nevanlinna, Heli, Newman, William G., Nordestgaard, Børge G., Ng, Pei-Sze, Oosterwijk, Jan C., Park, Sue K., Park-Simon, Tjoung-Won, Perez, Jose I.A., Peterlongo, Paolo, Porteous, David J., Prajzendanc, Karolina, Prokofyeva, Darya, Radice, Paolo, Rashid, Muhammad U., Rhenius, Valerie, Rookus, Matti A., Rüdiger, Thomas, Saloustros, Emmanouil, Sawyer, Elinor J., Schmutzler, Rita K., Schneeweiss, Andreas, Schürmann, Peter, Shah, Mitul, Sohn, Christof, Southey, Melissa C., Surowy, Harald, Suvanto, Maija, Thanasitthichai, Somchai, Tomlinson, Ian, Truong, Thérèse, Tzardi, Maria, Valova, Yana, van Asperen, Christi J., Van Dam, Rob M., van den Ouweland, Ans M.W., van der Kolk, Lizet E., van Veen, Elke M., Wendt, Camilla, Williams, Justin A., Yang, Xiaohong R., Yoon, Sook-Yee, Zamora, M. Pilar, Evans, Gareth D., de la Hoya, Miguel, Simard, Jacques, Antoniou, Antonis C., Borg, Åke, Andrulis, Irene L., Chang-Claude, Jenny, García-Closas, Montserrat, Chenevix-Trench, Georgia, Milne, Roger L., Pharoah, Paul D. P., Schmidt, Marjanka K., Spurdle, Amanda B., Vreeswijk, Maaike P.G., Benitez, Javier, Dunning, Alison M., Kvist, Anders, Teo, Soo H., Devilee, Peter, and Easton, Douglas F.

19. rs2735383, located at a microRNA binding site in the 3’UTR of NBS1, is not associated with breast cancer risk

Author

Pontificia Universidad Javeriana. Facultad de Medicina. Instituto de Genética Humana, Liu, Jingjing, Lončar, Ivona, Bolla, Manjeet K., Dennis, Joe, Michailidou, Kyriaki, Wang, Qin, Andrulis, Irene L., Barile, Monica, Beckmann, Matthias W., Behrens, Sabine, Benitez, Javier, Blomqvist, Carl, Boeckx, Bram, Bogdanova, Natalia V., Bojesen, Stig E., Brauch, Hiltrud, Brennan, Paul, Brenner, Hermann, Broeks, Annegien, Burwinkel, Barbara, Chang Claude, Jenny, Chen, Shou Tung, Chenevix Trench, Georgia, Cheng, Ching Y., Choi, Ji-Yeob, Couch, Fergus J., Cox, Angela, Cross, Simon S., Cuk, Katarina, Czene, Kamila, Dörk, Thilo, dos Santos Silva, Isabel, Fasching, Peter A., Figueroa, Jonine, Flyger, Henrik, García Closas, Montserrat, Giles, Graham G., Glendon, Gord, Goldberg, Mark S., González Neira, Anna, Guénel, Pascal, Haiman, Christopher A., Hamann, Ute, Hart, Steven N., Hartman, Mikael, Hatse, Sigrid, Hopper, John L., Ito, Hidemi, Jakubowska, Anna, Kabisch, Maria, Kang, Daehee, Kosma, Veli Matti, Kristensen, Vessela N., Marchand, Loic Le, Lee, Eunjung, Li, Jingmei, Lophatananon, Artitaya, Lubinsk, Jan, Mannermaa, Arto, Matsuo, Keitaro, Milne, Roger L., NBCS Collaborators, Neuhausen, Susan L., Nevanlinna, Heli, Orr, Nick, Perez, Jose I. A., Peto, Julian, Putti, Thomas C., Pylkäs, Katri, Radice, Paolo, Sangrajrang, Suleeporn, Sawyer, Elinor J., Schmidt, Marjanka K., Schneeweiss, Andreas, Shen, Chen Yang, Shrubsole, Martha J., Shu, Xiao Ou, Simard, Jacques, Southey, Melissa C., Swerdlow, Anthony, Teo, Soo H., Tessier, Daniel C., Thanasitthichai, Somchai, Tomlinson, Ian, Torres López, Diana María, Truong, Thérèse, Tseng, Chiu Chen, Vachon, Celine, Winqvist, Robert, Wu, Anna H., Yannoukakos, Drakoulis, Zheng, Wei, Hall, Per, Dunning, Alison M., Easton, Douglas F., Hooning, Maartje J., van den Ouweland, Ans M. W., Martens, John W. M., Hollestelle, Antoinette, Collée, JM., Pontificia Universidad Javeriana. Facultad de Medicina. Instituto de Genética Humana, Liu, Jingjing, Lončar, Ivona, Bolla, Manjeet K., Dennis, Joe, Michailidou, Kyriaki, Wang, Qin, Andrulis, Irene L., Barile, Monica, Beckmann, Matthias W., Behrens, Sabine, Benitez, Javier, Blomqvist, Carl, Boeckx, Bram, Bogdanova, Natalia V., Bojesen, Stig E., Brauch, Hiltrud, Brennan, Paul, Brenner, Hermann, Broeks, Annegien, Burwinkel, Barbara, Chang Claude, Jenny, Chen, Shou Tung, Chenevix Trench, Georgia, Cheng, Ching Y., Choi, Ji-Yeob, Couch, Fergus J., Cox, Angela, Cross, Simon S., Cuk, Katarina, Czene, Kamila, Dörk, Thilo, dos Santos Silva, Isabel, Fasching, Peter A., Figueroa, Jonine, Flyger, Henrik, García Closas, Montserrat, Giles, Graham G., Glendon, Gord, Goldberg, Mark S., González Neira, Anna, Guénel, Pascal, Haiman, Christopher A., Hamann, Ute, Hart, Steven N., Hartman, Mikael, Hatse, Sigrid, Hopper, John L., Ito, Hidemi, Jakubowska, Anna, Kabisch, Maria, Kang, Daehee, Kosma, Veli Matti, Kristensen, Vessela N., Marchand, Loic Le, Lee, Eunjung, Li, Jingmei, Lophatananon, Artitaya, Lubinsk, Jan, Mannermaa, Arto, Matsuo, Keitaro, Milne, Roger L., NBCS Collaborators, Neuhausen, Susan L., Nevanlinna, Heli, Orr, Nick, Perez, Jose I. A., Peto, Julian, Putti, Thomas C., Pylkäs, Katri, Radice, Paolo, Sangrajrang, Suleeporn, Sawyer, Elinor J., Schmidt, Marjanka K., Schneeweiss, Andreas, Shen, Chen Yang, Shrubsole, Martha J., Shu, Xiao Ou, Simard, Jacques, Southey, Melissa C., Swerdlow, Anthony, Teo, Soo H., Tessier, Daniel C., Thanasitthichai, Somchai, Tomlinson, Ian, Torres López, Diana María, Truong, Thérèse, Tseng, Chiu Chen, Vachon, Celine, Winqvist, Robert, Wu, Anna H., Yannoukakos, Drakoulis, Zheng, Wei, Hall, Per, Dunning, Alison M., Easton, Douglas F., Hooning, Maartje J., van den Ouweland, Ans M. W., Martens, John W. M., Hollestelle, Antoinette, and Collée, JM.

20. Association analysis identifies 65 new breast cancer risk loci

Author

Pontificia Universidad Javeriana. Facultad de Medicina. Instituto de Genética Humana, Michailidou, Kyriaki, Lindström, Sara, Dennis, Joe, Beesley, Jonathan, Hui, Shirley, Kar, Siddhartha, Lemaçon, Audrey, Soucy, Penny, Glubb, Dylan, Rostamianfar, Asha, Bolla, Manjeet K., Wang, Qin, Tyrer, Jonathan, Dicks, Ed, Lee, Andrew, Wang, Zhaoming, Allen, Jamie, Keeman, Renske, Eilber, Ursula, French, Juliet D., Qing Chen, Xiao, Fachal, Laura, McCue, Karen, McCart Reed, Amy E., Ghoussaini, Maya, Carroll, Jason S., Jiang, Xia, Finucane, Hilary, Adams, Marcia, Adank, Muriel A., Ahsan, Habibul, Aittomäki, Kristiina, Anton-Culver, Hoda, Antonenkova, Natalia N., Arndt, Volker, Aronson, Kristan J., Arun, Banu, Auer, Paul L., Bacot, F, Barrdahl, Myrto, Baynes, Caroline, Beckmann, Matthias W., Behrens, Sabine, Benitez, Javier, Bermisheva, Marina, Bernstein, Leslie, Blomqvist, Carl, Bogdanova, Natalia V., Bojesen, Stig E., Bonanni, Bernardo, Børresen-Dale, Anne-Lise, Brand, Judith S., Brauch, Hiltrud, Brennan, Paul, Brenner, Hermann, Brinton, Louise, Broberg, Per, Brock, Ian W., Broeks, Annegien, Brooks-Wilson, Angela, Brucker, Sara Y., Brüning, Thomas, Burwinkel, Barbara, Butterbach, Katja, Cai, Qiuyin, Cai, Hui, Caldés, Trinidad, Canzian, Federico, Carracedo, Angel, Carter, Brian D., Castelao, Jose E., Chan, Tsun L., David Cheng, Ting-Yuan, Seng Chia, Kee, Choi, Ji-Yeob, Christiansen, Hans, Clarke, Christine L., NBCS Collaborators, Collée, Margriet, Conroy, Don M., Cordina-Duverger, Emilie, Cornelissen, Sten, Cox, David G., Cox, Angela, Cross, Simon S., Cunningham, Julie M., Czene, Kamila, Daly, Mary B., Devilee, Peter, Doheny, Kimberly F., Dörk, Thilo, dos-Santos-Silva, Isabel, Dumont, Martine, Durcan, Lorraine, Dwek, Miriam, Eccles, Diana M., Ekici, Arif B., Eliassen, A. Heather, Ellberg, Carolina, Elvira, Mingajeva, Engel, Christoph, Eriksson, Mikael, Fasching, Peter A., Figueroa, Jonine, Flesch-Janys, Dieter, Fletcher, Olivia, Flyger, Henrik, Fritschi, Lin, Gaborieau, Valerie, Gabrielson, Marike, Gago-Dominguez, Manuela, Gao, Yu-Tang, Gapstur, Susan M., García-Sáenz, José Angel, Gaudet, Mia M., Georgoulias, Vassilios, Giles, Graham G., Glendon, Gord, Goldberg, Mark S., Goldgar, David E., González-Neira, Anna, Grenaker Alnæs, Grethe I., Grip, Mervi, Gronwald, Jacek, Grundy, Anne, Guénel, Pascal, Haeberle, Lothar, Hahnen, Eric, Haiman, Christopher A., Håkansson, Niclas, Hamann, Ute, Hamel, Nathalie, Hankinson, Susan, Harrington, Patricia, Hart, Steven N., Hartikainen, Jaana M., Hartman, Mikael, Hein, Alexander, Heyworth, Jane, Hicks, Belynda, Hillemanns, Peter, Ho, Dona N., Hollestelle, Antoinette, Hooning, Maartje J., Hoover, Robert N., Hopper, John L., Hou, Ming-Feng, Hsiung, Chia-Ni, Huang, Guanmengqian, Humphreys, Keith, Ishiguro, Junko, Ito, Hidemi, Iwasaki, Motoki, Iwata, Hiroji, Jakubowska, Anna, Janni, Wolfgang, John, Esther M., Johnson, Nichola, Jones, Kristine, Jones, Michael, Jukkola-Vuorinen, Arja, Kaaks, Rudolf, Kabisch, Maria, Kaczmarek, Katarzyna, Kang, Daehee, Kasuga, Yoshio, Kerin, Michael J., Khan, Sofia, Khusnutdinova, Elza, Kiiski, Johanna I., Kim, Sung-Won, Knight, Julia A., Kosma, Veli-Matti, Kristensen, Vessela N., Krüger, Ute, Kwong, Ava, Lambrechts, Diether, Marchand, Loic Le, Lee, Eunjung, Lee, Min Hyuk, Lee, Jong Won, Lee, Chuen Neng, Lejbkowicz, Flavio, Li, Jingmei, Lilyquist, Jenna, Lindblom, Annika, Lissowska, Jolanta, Lo, Wing-Yee, Loibl, Sibylle, Long, Jirong, Lophatananon, Artitaya, Lubinski, Jan, Luccarini, Craig, Lux, Michael P., K. Ma, Edmond S., MacInnis, Robert J., Maishman, Tom, Makalic, Enes, Malone, Kathleen E., Kostovska, Ivana Maleva, Mannermaa, Arto, Manoukian, Siranoush, Manson, JoAnn E., Margolin, Sara, Mariapun, Shivaani, Martinez, Maria Elena, Matsuo, Keitaro, Mavroudis, Dimitrios, McKay, James, McLean, Catriona, Meijers-Heijboer, Hanne, Meindl, Alfons, Menéndez, Primitiva, Menon, Usha, Meyer, Jeffery, Miao, Hui, Miller, Nicola, Mohd Taib, Nur Aishah, Muir, Kenneth, Mulligan, Anna Marie, Mulot, Claire, Neuhausen, Susan L., Nevanlinna, Heli, Neven, Patrick, Nielsen, Sune F., Noh, Dong-Young, Nordestgaard, Børge G., Norman, Aaron, Olopade, Olufunmilayo I., Olson, Janet E., Olsson, Håkan, Olswold, Curtis, Orr, Nick, Pankratz, V. Shane, Park, Sue K., Park-Simon, Tjoung-Won, Lloyd, Rachel, A. Perez, Jose I., Peterlongo, Paolo, Peto, Julian, Phillips, Kelly-Anne, Pinchev, Mila, Plaseska-Karanfilska, Dijana, Prentice, Ross, Presneau, Nadege, Prokofyeva, Darya, Pugh, Elizabeth, Pylkäs, Katri, Rack, Brigitte, Radice, Paolo, Rahman, Nazneen, Rennert, Gadi, Rennert, Hedy S., Rhenius, Valerie, Romero, Atocha, Romm, Jane, Ruddy, Kathryn J., Rüdiger, Thomas, Rudolph, Anja, Ruebner, Matthias, T. Rutgers, Emiel J., Saloustros, Emmanouil, Sandler, Dale P., Sangrajrang, Suleeporn, Sawyer, Elinor J., Schmidt, Daniel F., Schmutzler, Rita K., Schneeweiss, Andreas, Schoemaker, Minouk J., Schumacher, Fredrick, Schürmann, Peter, Scott, Rodney J., Scott, Christopher, Seal, Sheila, Seynaeve, Caroline, Shah, Mitul, Sharma, Priyanka, Shen, Chen-Yang, Sheng, Grace, Sherman, Mark E., Shrubsole, Martha J., Shu, Xiao-Ou, Smeets, Ann, Sohn, Christof, Southey, Melissa C., Spinelli, John J., Stegmaier, Christa, Stewart-Brown, Sarah, Stone, Jennifer, Stram, Daniel O., Surowy, Harald, Swerdlow, Anthony, Tamimi, Rulla, Taylor, Jack A., Tengström, Maria, Teo, Soo H., Beth Terry, Mary, Tessier, Daniel C., Thanasitthichai, Somchai, Thöne, Kathrin, M. Tollenaar, Rob A. E., Tomlinson, Ian, Tong, Ling, Torres, Diana, Truong, Thérèse, Tseng, Chiu-Chen, Tsugane, Shoichiro, Ulmer, Hans-Ulrich, Ursin, Giske, Untch, Michael, Vachon, Celine, van Asperen, Christi J., Van Den Berg, David, van den Ouweland, Ans M. W., van der Kolk, Lizet, van der Luijt, Rob B., Vincent, Daniel, Vollenweider, Jason, Waisfisz, Quinten, Wang-Gohrke, Shan, Weinberg, Clarice R., Wendt, Camilla, Whittemore, Alice S., Wildiers, Hans, Willett, Walter, Winqvist, Robert, Wolk, Alicja, Wu, Anna H., Xia, Lucy, Yamaji, Taiki, Yang, Xiaohong R., Har Yip, Cheng, Yoo, Keun-Young, Yu, Jyh-Cherng, Zheng, Wei, Zheng, Ying, Zhu, Bin, Ziogas, Argyrios, Ziv, Elad, ABCTB Investigators, ConFab/AOCS Investigators, Lakhani, Sunil R., Antoniou, Antonis C., Droit, Arnaud, Andrulis, Irene L., Amos, Christopher I., Couch, Fergus J., P. Pharoah, Paul D., Chang-Claude, Jenny, Hall, Per, Hunter, David J., Milne, Roger L., García-Closas, Montserrat, Schmidt, Marjanka K., Chanock, Stephen J., Dunning, Alison M., Edwards, Stacey L., Bader, Gary D., Chenevix-Trench, Georgia, Simard, Jacques, Kraft, Peter, Easton, Douglas F., Pontificia Universidad Javeriana. Facultad de Medicina. Instituto de Genética Humana, Michailidou, Kyriaki, Lindström, Sara, Dennis, Joe, Beesley, Jonathan, Hui, Shirley, Kar, Siddhartha, Lemaçon, Audrey, Soucy, Penny, Glubb, Dylan, Rostamianfar, Asha, Bolla, Manjeet K., Wang, Qin, Tyrer, Jonathan, Dicks, Ed, Lee, Andrew, Wang, Zhaoming, Allen, Jamie, Keeman, Renske, Eilber, Ursula, French, Juliet D., Qing Chen, Xiao, Fachal, Laura, McCue, Karen, McCart Reed, Amy E., Ghoussaini, Maya, Carroll, Jason S., Jiang, Xia, Finucane, Hilary, Adams, Marcia, Adank, Muriel A., Ahsan, Habibul, Aittomäki, Kristiina, Anton-Culver, Hoda, Antonenkova, Natalia N., Arndt, Volker, Aronson, Kristan J., Arun, Banu, Auer, Paul L., Bacot, F, Barrdahl, Myrto, Baynes, Caroline, Beckmann, Matthias W., Behrens, Sabine, Benitez, Javier, Bermisheva, Marina, Bernstein, Leslie, Blomqvist, Carl, Bogdanova, Natalia V., Bojesen, Stig E., Bonanni, Bernardo, Børresen-Dale, Anne-Lise, Brand, Judith S., Brauch, Hiltrud, Brennan, Paul, Brenner, Hermann, Brinton, Louise, Broberg, Per, Brock, Ian W., Broeks, Annegien, Brooks-Wilson, Angela, Brucker, Sara Y., Brüning, Thomas, Burwinkel, Barbara, Butterbach, Katja, Cai, Qiuyin, Cai, Hui, Caldés, Trinidad, Canzian, Federico, Carracedo, Angel, Carter, Brian D., Castelao, Jose E., Chan, Tsun L., David Cheng, Ting-Yuan, Seng Chia, Kee, Choi, Ji-Yeob, Christiansen, Hans, Clarke, Christine L., NBCS Collaborators, Collée, Margriet, Conroy, Don M., Cordina-Duverger, Emilie, Cornelissen, Sten, Cox, David G., Cox, Angela, Cross, Simon S., Cunningham, Julie M., Czene, Kamila, Daly, Mary B., Devilee, Peter, Doheny, Kimberly F., Dörk, Thilo, dos-Santos-Silva, Isabel, Dumont, Martine, Durcan, Lorraine, Dwek, Miriam, Eccles, Diana M., Ekici, Arif B., Eliassen, A. Heather, Ellberg, Carolina, Elvira, Mingajeva, Engel, Christoph, Eriksson, Mikael, Fasching, Peter A., Figueroa, Jonine, Flesch-Janys, Dieter, Fletcher, Olivia, Flyger, Henrik, Fritschi, Lin, Gaborieau, Valerie, Gabrielson, Marike, Gago-Dominguez, Manuela, Gao, Yu-Tang, Gapstur, Susan M., García-Sáenz, José Angel, Gaudet, Mia M., Georgoulias, Vassilios, Giles, Graham G., Glendon, Gord, Goldberg, Mark S., Goldgar, David E., González-Neira, Anna, Grenaker Alnæs, Grethe I., Grip, Mervi, Gronwald, Jacek, Grundy, Anne, Guénel, Pascal, Haeberle, Lothar, Hahnen, Eric, Haiman, Christopher A., Håkansson, Niclas, Hamann, Ute, Hamel, Nathalie, Hankinson, Susan, Harrington, Patricia, Hart, Steven N., Hartikainen, Jaana M., Hartman, Mikael, Hein, Alexander, Heyworth, Jane, Hicks, Belynda, Hillemanns, Peter, Ho, Dona N., Hollestelle, Antoinette, Hooning, Maartje J., Hoover, Robert N., Hopper, John L., Hou, Ming-Feng, Hsiung, Chia-Ni, Huang, Guanmengqian, Humphreys, Keith, Ishiguro, Junko, Ito, Hidemi, Iwasaki, Motoki, Iwata, Hiroji, Jakubowska, Anna, Janni, Wolfgang, John, Esther M., Johnson, Nichola, Jones, Kristine, Jones, Michael, Jukkola-Vuorinen, Arja, Kaaks, Rudolf, Kabisch, Maria, Kaczmarek, Katarzyna, Kang, Daehee, Kasuga, Yoshio, Kerin, Michael J., Khan, Sofia, Khusnutdinova, Elza, Kiiski, Johanna I., Kim, Sung-Won, Knight, Julia A., Kosma, Veli-Matti, Kristensen, Vessela N., Krüger, Ute, Kwong, Ava, Lambrechts, Diether, Marchand, Loic Le, Lee, Eunjung, Lee, Min Hyuk, Lee, Jong Won, Lee, Chuen Neng, Lejbkowicz, Flavio, Li, Jingmei, Lilyquist, Jenna, Lindblom, Annika, Lissowska, Jolanta, Lo, Wing-Yee, Loibl, Sibylle, Long, Jirong, Lophatananon, Artitaya, Lubinski, Jan, Luccarini, Craig, Lux, Michael P., K. Ma, Edmond S., MacInnis, Robert J., Maishman, Tom, Makalic, Enes, Malone, Kathleen E., Kostovska, Ivana Maleva, Mannermaa, Arto, Manoukian, Siranoush, Manson, JoAnn E., Margolin, Sara, Mariapun, Shivaani, Martinez, Maria Elena, Matsuo, Keitaro, Mavroudis, Dimitrios, McKay, James, McLean, Catriona, Meijers-Heijboer, Hanne, Meindl, Alfons, Menéndez, Primitiva, Menon, Usha, Meyer, Jeffery, Miao, Hui, Miller, Nicola, Mohd Taib, Nur Aishah, Muir, Kenneth, Mulligan, Anna Marie, Mulot, Claire, Neuhausen, Susan L., Nevanlinna, Heli, Neven, Patrick, Nielsen, Sune F., Noh, Dong-Young, Nordestgaard, Børge G., Norman, Aaron, Olopade, Olufunmilayo I., Olson, Janet E., Olsson, Håkan, Olswold, Curtis, Orr, Nick, Pankratz, V. Shane, Park, Sue K., Park-Simon, Tjoung-Won, Lloyd, Rachel, A. Perez, Jose I., Peterlongo, Paolo, Peto, Julian, Phillips, Kelly-Anne, Pinchev, Mila, Plaseska-Karanfilska, Dijana, Prentice, Ross, Presneau, Nadege, Prokofyeva, Darya, Pugh, Elizabeth, Pylkäs, Katri, Rack, Brigitte, Radice, Paolo, Rahman, Nazneen, Rennert, Gadi, Rennert, Hedy S., Rhenius, Valerie, Romero, Atocha, Romm, Jane, Ruddy, Kathryn J., Rüdiger, Thomas, Rudolph, Anja, Ruebner, Matthias, T. Rutgers, Emiel J., Saloustros, Emmanouil, Sandler, Dale P., Sangrajrang, Suleeporn, Sawyer, Elinor J., Schmidt, Daniel F., Schmutzler, Rita K., Schneeweiss, Andreas, Schoemaker, Minouk J., Schumacher, Fredrick, Schürmann, Peter, Scott, Rodney J., Scott, Christopher, Seal, Sheila, Seynaeve, Caroline, Shah, Mitul, Sharma, Priyanka, Shen, Chen-Yang, Sheng, Grace, Sherman, Mark E., Shrubsole, Martha J., Shu, Xiao-Ou, Smeets, Ann, Sohn, Christof, Southey, Melissa C., Spinelli, John J., Stegmaier, Christa, Stewart-Brown, Sarah, Stone, Jennifer, Stram, Daniel O., Surowy, Harald, Swerdlow, Anthony, Tamimi, Rulla, Taylor, Jack A., Tengström, Maria, Teo, Soo H., Beth Terry, Mary, Tessier, Daniel C., Thanasitthichai, Somchai, Thöne, Kathrin, M. Tollenaar, Rob A. E., Tomlinson, Ian, Tong, Ling, Torres, Diana, Truong, Thérèse, Tseng, Chiu-Chen, Tsugane, Shoichiro, Ulmer, Hans-Ulrich, Ursin, Giske, Untch, Michael, Vachon, Celine, van Asperen, Christi J., Van Den Berg, David, van den Ouweland, Ans M. W., van der Kolk, Lizet, van der Luijt, Rob B., Vincent, Daniel, Vollenweider, Jason, Waisfisz, Quinten, Wang-Gohrke, Shan, Weinberg, Clarice R., Wendt, Camilla, Whittemore, Alice S., Wildiers, Hans, Willett, Walter, Winqvist, Robert, Wolk, Alicja, Wu, Anna H., Xia, Lucy, Yamaji, Taiki, Yang, Xiaohong R., Har Yip, Cheng, Yoo, Keun-Young, Yu, Jyh-Cherng, Zheng, Wei, Zheng, Ying, Zhu, Bin, Ziogas, Argyrios, Ziv, Elad, ABCTB Investigators, ConFab/AOCS Investigators, Lakhani, Sunil R., Antoniou, Antonis C., Droit, Arnaud, Andrulis, Irene L., Amos, Christopher I., Couch, Fergus J., P. Pharoah, Paul D., Chang-Claude, Jenny, Hall, Per, Hunter, David J., Milne, Roger L., García-Closas, Montserrat, Schmidt, Marjanka K., Chanock, Stephen J., Dunning, Alison M., Edwards, Stacey L., Bader, Gary D., Chenevix-Trench, Georgia, Simard, Jacques, Kraft, Peter, and Easton, Douglas F.

21. Impact of Using Intra-Operative Ultrasound Guided Breast- Conserving Surgery on Positive Margin and Re-Excision Rates in Breast Cancer Cases with Current SSO/ASTRO Guidelines.

Author

Thanasitthichai S, Chaiwerawattana A, and Phadhana-Anake O

Subjects
Adult, Aged, Carcinoma, Ductal, Breast pathology, Carcinoma, Ductal, Breast surgery, Carcinoma, Intraductal, Noninfiltrating pathology, Carcinoma, Intraductal, Noninfiltrating surgery, Carcinoma, Lobular pathology, Carcinoma, Lobular surgery, Female, Frozen Sections methods, Humans, Mastectomy, Segmental methods, Middle Aged, Reoperation methods, Retrospective Studies, Thailand, Ultrasonography methods, Breast Neoplasms pathology, Breast Neoplasms surgery
Abstract

Purpose: To review the impact of using intra-operative ultrasound guided breast conserving surgery with frozen sections on nal pathological margin outcome with the current guidelines set forth by the Society of Surgical Oncology (SSO) and the American Society of Surgical Oncology (ASTRO)., Materials and Methods: A retrospective review including all cases of intra-operative ultrasound guided breast conserving surgery was performed at the National Cancer Institute Thailand between 2013 and 2016. Patient demographics, tumor variables, intraoperative frozen section and nal pathological margin outcomes were collected. Factors for positive or close margins were analyzed., Results: A total of 86 patients aged between 27 and 75 years with intra- operative ultrasound guided breast conserving surgery were included. Three cases (3.5%) of positive margin were detected by intra-operative frozen section and 4 cases (4.7%) by final pathology reports. There were 18 cases (20.9%) with a close margin (<1 mm). Factors affecting this result comprised multi-foci, presence of invasive ductal carcinoma (IDC) combined with ductal carcinoma in situ (DCIS) and invasive lobular carcinoma (ILC)., Conclusions: With the current SSO/ASTRO for adequate margin guidelines, using intra-operative ultrasound to locate the boundary for resection with breast conserving surgery provided a high success rate in obtaining final pathology free margin outcomes and minimizing re-operation risks especially when combined with intra-operative frozen section assessment. The chance of finding positive or close margins appears higher in cases of IDC combined with DCIS, ILC and with multi-foci cancers.

Published
2016

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