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2121 citation(s) found for "Ma, Julie".

P2‐276: Decreased Posterior Gray Matter Volumes in Women who Experienced Hypertensive Pregnancies and Have Late‐Life Hypertension
Raman, Mekala R., Tosakulwong, Nirubol , Preboske, Gregory M., Fields, Julie A. , Miller, Virginia M. , White, Wendy , Mielke, Michelle M. , Jack, Clifford R. , Garovic, Vesna D. , Kantarci, Kejal

Alzheimer's & Dementia | October 17, 2016 | Volume: 12 | Issue: 7S_Part_15 | Pages: No page available

10.1016/j.jalz.2016.06.1536 Get It

P2‐248: Neuropsychological and MRI Findings in MAPT Mutation Carriers in the Evolution from the Asymptomatic to Symptomatic State
Dheel, Christina, Przybelski, Scott A. , Fields, Julie A. , Rademakers, Rosa , Petersen, Ronald C. , Senjem, Matthew L. , Kantarci, Kejal , Jones, David T. , Machulda, Mary M. , Jack, Clifford R. , Knopman, David S. , Wszołek, Zbigniew K. , Boeve, Bradley F.

Alzheimer's & Dementia | October 17, 2016 | Volume: 12 | Issue: 7S_Part_14 | Pages: No page available

10.1016/j.jalz.2016.06.1416 Get It

IC‐P‐080: Decreased Posterior Gray Matter Volumes in Women Who Experienced Hypertensive Pregnancies and Have Late‐Life Hypertension
Raman, Mekala R., Tosakulwong, Nirubol , Preboske, Gregory M., Fields, Julie A. , Miller, Virginia M. , White, Wendy , Mielke, Michelle M. , Jack, Clifford R. , Garovic, Vesna D. , Kantarci, Kejal

Alzheimer's & Dementia | October 17, 2016 | Volume: 12 | Issue: 7S_Part_2 | Pages: No page available

10.1016/j.jalz.2016.06.109 Get It

Change in the Distance From the Axillary Nerve to the Glenohumeral Joint With Shoulder External Rotation or Abduction Position
Simone, Juan Pablo , Steinmann, Scott P. , Adams, Julie E. , Adams, Julie , Sanchez-Sotelo, Joaquin, Streubel, Philipp N. , Sánchez‐Sotelo, Joaquín , Adams, Julie E

HAND | October 13, 2016 | Volume: 12 | Issue: 4 | Pages: 395-400

10.1177/1558944716668849 | PMID 28644944 Get It

Background: This study investigated whether axillary nerve (AN) distance to the inferior border of the humeral head and inferior glenoid would change while placing the glenohumeral joint in different degrees of external rotation and abduction. Methods: A standard deltopectoral approach was performed on 10 fresh-frozen cadaveric specimens. The distance between AN and the inferior border of the humeral head and inferior glenoid while placing the shoulder in 0°, 45°, and 90° of external rotation or abduction was measured. Continuous variables for changes in AN position were compared with paired 2-tailed Student t test. Results: The mean distance between the AN and the humeral head with the shoulder in 0°, 45°, and 90° of external rotation and 0° of abduction was 13.77 mm (SD 4.31), 13.99 mm (SD 4.12), and 16.28 mm (SD 5.40), respectively. The mean distance between the AN and glenoid with the shoulder in 0°, 45°, and 90° of external rotation was 16.33 mm (SD 3.60), 15.60 mm (SD 4.19), and 16.43 (SD 5.35), respectively. The mean distance between the AN and the humeral head with the shoulder in 0°, 45°, and 90° of abduction and 0° of external rotation was 13.76 mm (SD 4.31), 10.68 mm (SD 4.19), and 3.81 mm (SD 3.08), respectively. The mean distance between the AN and glenoid with the shoulder in 0°, 45°, and 90° of abduction was 16.33 mm (SD 3.60), 17.66 mm (SD 5.80), and 12.44 mm (SD 5.57), respectively. Conclusions: The AN position relative to the inferior aspect of the glenohumeral joint does not significantly change despite position of external rotation. Increasing shoulder abduction over 45° decreases the distance from the glenohumeral joint to the AN and should be avoided.
The OncoArray Consortium: A Network for Understanding the Genetic Architecture of Common Cancers
Wang, Zhaoming , Schumacher, Fredrick R. , Gayther, Simon A. , Casey, Graham , Sellers, Thomas A. , Gruber, Stephen B., Dunning, Alison M. , Michailidou, Kyriaki , Fachal, Laura , Doheny, Kimberly F. , Li, Yafang , Xiao, Xiangjun , Romm, Jane, Pugh, Elizabeth, Coetzee, Gerhard A. , Hazelett, Dennis J. , Bojesen, Stig E. , Caga-Anan, Charlisse , Haiman, Christopher A. , Kamal, Ahsan , Luccarini, Craig , Tessier, Daniel C., Vincent, Daniel , Bacot, François, Berg, David Van Den , Nelson, Stefanie A. , Demetriades, Stephen, Goldgar, David E., Forman, Judith L., Conti, David V. , Bickeböller, Heike , Risch, Angela , Waldenberger, Mélanie , Brüske‐Hohlfeld, Irene, Hicks, Belynda , McGuffog, Lesley, Kuchenbaecker, Karoline , Soucy, Penny, Manz, Judith, Cunningham, Julie M. , Butterbach, Katja, Kote‐Jarai, Zsofia , Kraft, Peter , Lindström, Sara , Adams, Marcia, McKay, James , Phelan, Catherine M., Benlloch, Sara, Kelemen, Linda E., Brennan, Paul , Riggan, Marjorie J. , O’Mara, Tracy A. , Shen, Hongbing , Shi, Yongyong , Thompson, Deborah J. , Goodman, Marc T. , Nielsen, Sune F. , LaBoissière, Sylvie, Schmit, Stephanie L. , Shelford, Tameka, Edlund, Christopher K., Taylor, Jack A. , Field, John K. , Park, Sue K. , Offit, Kenneth , Thomassen, Mads , Schmutzler, Rita K., Ottini, Laura , Hung, Rayjean J., Olama, Ali Amin Al , Peters, Ulrike , Eeles, Rosalind A. , Seldin, Michael F., Gillanders, Elizabeth M. , Seminara, Daniela, Antoniou, Antonis C. , Chenevix‐Trench, Georgia , Simard, Jacques , Easton, Douglas F. , Durocher, Francine , Hung, Rayjean J. , Amos, Christopher I. , Dennis, Joe , Byun, Jinyoung , Hunter, David J. , Spurdle, Amanda B. , Couch, Fergus J. , Giles, Graham G. , Ling, Hua , Lee, Andrew , FitzGerald, Liesel M. , Berchuck, Andrew , Marchini, Jonathan , Pharoah, Paul D.P. , Chanock, Stephen Jacob , Hazelett, Dennis J , Eeles, Rosalind A , Van Den Berg, David J , Hung, Rayjean J , Wang, Zhaoming , O'Mara, Tracy A , Field, John K , Dunning, Alison M , Michailidou, Kyriaki , Taylor, Jack A , Kraft, Peter , Simard, Jacques , Chenevix-Trench, Georgia , Ottini, Laura , Conti, David V , Bojesen, Stig E , Risch, Angela , Bickeböller, Heike , Shen, Hongbing , Goodman, Marc T , Fachal, Laura

Cancer Epidemiology, Biomarkers & Prevention | October 3, 2016 | Volume: 26 | Issue: 1 | Pages: 126-135

10.1158/1055-9965.epi-16-0106 | PMID 27697780 Get It

Abstract Background: Common cancers develop through a multistep process often including inherited susceptibility. Collaboration among multiple institutions, and funding from multiple sources, has allowed the development of an inexpensive genotyping microarray, the OncoArray. The array includes a genome-wide backbone, comprising 230,000 SNPs tagging most common genetic variants, together with dense mapping of known susceptibility regions, rare variants from sequencing experiments, pharmacogenetic markers, and cancer-related traits. Methods: The OncoArray can be genotyped using a novel technology developed by Illumina to facilitate efficient genotyping. The consortium developed standard approaches for selecting SNPs for study, for quality control of markers, and for ancestry analysis. The array was genotyped at selected sites and with prespecified replicate samples to permit evaluation of genotyping accuracy among centers and by ethnic background. Results: The OncoArray consortium genotyped 447,705 samples. A total of 494,763 SNPs passed quality control steps with a sample success rate of 97% of the samples. Participating sites performed ancestry analysis using a common set of markers and a scoring algorithm based on principal components analysis. Conclusions: Results from these analyses will enable researchers to identify new susceptibility loci, perform fine-mapping of new or known loci associated with either single or multiple cancers, assess the degree of overlap in cancer causation and pleiotropic effects of loci that have been identified for disease-specific risk, and jointly model genetic, environmental, and lifestyle-related exposures. Impact: Ongoing analyses will shed light on etiology and risk assessment for many types of cancer. Cancer Epidemiol Biomarkers Prev; 26(1); 126–35. ©2016 AACR.
Effects of Selective Activation of the First Dorsal Interosseous and Opponens Pollicis on Thumb CMC Kinematics
Rosenstein, Benjamin E., Magnusson, Erik A. , Nuckley, David J., Adams, Julie E. , O’Brien, Virginia H.

HAND | September 26, 2016 | Volume: 11 | Issue: 1_suppl | Pages: 143S-143S

10.1177/1558944716660555jz Get It

Objective: Symptomatic thumb carpometacarpal (CMC) joint osteoarthritis is common. Early data support selective strengthening of the first dorsal interosseous (FDI) and opponens pollicis (OP) muscles for conservative management with improvement in pain and functional outcomes scores. There are limited biomechanical studies to support such strengthening programs. The purpose of these studies was to quantify the kinematics and joint kinetics at the thumb CMC joint during simulated pinch with selective activation of the FDI and OP muscles. The first study was completed with all ligamentous attachments of the CMC joint intact. The second study was completed with all CMC ligaments released. Hypothesis: Our hypothesis was that increased loads in the FDI and OP result in effects to the joint kinematics and reduce subluxation. Results: Our results from both studies show the OP and FDI act synergistically to center the first metacarpal on the trapezium and reduce subluxation during simulated pinch. The OP is the predominant corrective force but tends to overcorrect if unopposed. The FDI tempers the action of OP and contributes to improved CMC congruency. Conclusion: Our conclusion is these biomechanical data support selective thenar muscle re-education and strengthening programs for conservative management of thumb CMC joint osteoarthritis and pain.
Liver transplantation after share 35: Impact on pretransplant and posttransplant costs and mortality
Nicolas, Clara T., Nyberg, Scott L. , Watt, Kymberly D. , Chen, Harvey S., Hathcock, Matthew , Kremers, Walter K. , Watt, Kymberly, Hathcock, Matthew A, Heimbach, Julie K. , Kremers, Walter K

Liver Transplantation | September 22, 2016 | Volume: 23 | Issue: 1 | Pages: 11-18

10.1002/lt.24641 | PMID 27658200 Get It

Share 35 was implemented in 2013 to direct livers to the most urgent candidates by prioritizing Model for End‐Stage Liver Disease (MELD) ≥ 35 patients. We aim to evaluate this policy's impact on costs and mortality. Our study includes 834 wait‐listed patients and 338 patients who received deceased donor, solitary liver transplants at Mayo Clinic between January 2010 and December 2014. Of these patients, 101 (30%) underwent transplantation after Share 35. After Share 35, 29 (28.7%) MELD ≥ 35 patients received transplants, as opposed to 46 (19.4%) in the pre–Share 35 era (P = 0.06). No significant difference in 90‐day wait‐list mortality (P = 0.29) nor 365‐day posttransplant mortality (P = 0.68) was found between patients transplanted before or after Share 35. Mean costs were $3,049 (P = 0.30), $5226 (P = 0.18), and $10,826 (P = 0.03) lower post‐Share 35 for the 30‐, 90‐, and 365‐day pretransplant periods, and mean costs were $5010 (P = 0.41) and $5859 (P = 0.57) higher, and $9145 (P = 0.54) lower post‐Share 35 for the 30‐, 90‐, and 365‐day posttransplant periods. In conclusion, the added cost of transplanting more MELD ≥ 35 patients may be offset by pretransplant care cost reduction. Despite shifting organs to critically ill patients, Share 35 has not impacted mortality significantly. Liver Transplantation 23:11–18 2017 AASLD.
Three new pancreatic cancer susceptibility signals identified on chromosomes 1q32.1, 5p15.33 and 8q24.21
Wang, Zhaoming , Obazee, Ofure , Jia, Jinping , Childs, Erica J., Hoskins, Jason W. , Figlioli, Gisella , Collins, Irene , Chung, Charles C., Hautman, Christopher, Arslan, Alan A. , Bracci, Paige M. , Buring, Julie E. , Gallinger, Steven , Goodman, Gary E. , Goodman, Phyllis J. , Kamineni, Aruna , Kolonel, Laurence N. , Kulke, Matthew H. , Malats, Núria , Olson, Sara H. , Sesso, Howard D. , Visvanathan, Kala , Zheng, Wei , Abnet, Christian C. , Andreotti, Gabriella , Bueno-de-Mesquita, H. Bas, Basso, Daniela , Berndt, Sonja I. , Brenner, Hermann , Burdette, Laurie , Campa, Daniele , Caporaso, Neil E. , Capurso, Gabriele , Cavestro, Giulia Martina , Costello, Eithne , Elena, Joanne W. , Boggi, Ugo , Gaziano, J. Michael , Giovannucci, Edward L. , Gross, Myron D., Haiman, Christopher A. , Hassan, Manal M. , Helzlsouer, Kathy J., Hu, Nan , Hunter, David J., Iskierka‐Jazdzewska, Elżbieta , Jenab, Mazda , Klein, Eric A. , Krogh, Vittorio , Kupčinskas, Juozas , Kurtz, Robert C. , Landi, Maria Teresa , Mambrini, Andrea , Neale, Rachel Ε. , Oberg, Ann L. , Patel, Alpa V. , Peeters, Petra H., Peters, Ulrike , Pezzilli, Raffaele , Porta, Miquel , Purdue, Mark P. , Quirós, J. Ramón , Ríboli, Elio , Rothman, Nathaniel , Scarpa, Aldo , Scélo, Ghislaine , Strobel, Oliver , Małecka‐Panas, Ewa , Tavano, Francesca , Travis, Ruth C. , Thornquist, Mark, Tjønneland, Anne , Trichopoulos, Dimitrios, Vashist, Yogesh K. , Vodička, Pavel , Wactawski‐Wende, Jean , Wentzensen, Nicolas , Yu, Kai , Zeleniuch‐Jacquotte, Anne , Jacobs, Eric J. , Li, Donghui , Fuchs, Charles S. , Hoover, Robert N. , Hartge, Patricia, Petersen, Gloria M. , Stolzenberg-Solomon, Rachael S., Wolpin, Brian M. , Kraft, Peter , Canzian, Federico , Ámundadóttir, Laufey T. , Zhang, Mingfeng , Mocci, Evelina , Freeman, Laura E. Beane , Duell, Eric J. , Giles, Graham G. , White, Emily , Albanes, Demetrius , Brais, Lauren K , Boutron‐Ruault, Marie‐Christine , Bijlsma, Maarten F. , Cotterchio, Michelle , Gazouli, Maria , Goggins, Michael , Kaaks, Rudolf , Key, Tim , Khaw, Kay‐Tee , Kogevinas, Manolis , Kupcinskas, Juozas , Landi, Stefano , Marchand, Loı̈c Le , Männistö, Satu , Milne, Roger L. , Panico, Salvatore , Shu, Xiao‐Ou , Silverman, Debra T. , Souček, Pavel , Sund, Malin , Taylor, Philip R. , Tobias, Geoffrey S. , Yu, Kai , Kooperberg, Charles , Risch, Harvey A. , Chanock, Stephen Jacob , Klein, Alison P. , Amundadottir, Laufey , Malats, Nuria , Arslan, Alan A , Canzian, Federico , Tjønneland, Anne , Wactawski-Wende, Jean , Travis, Ruth C , Wang, Zhaoming , Abnet, Christian C , Visvanathan, Kala , Klein, Eric A , Brenner, Hermann , Strobel, Oliver , Jenab, Mazda , Kraft, Peter , Zheng, Wei , Iskierka-Jazdzewska, Elżbieta , Riboli, Elio , Vodicka, Pavel , Neale, Rachel E , Porta, Miquel , Zeleniuch-Jacquotte, Anne , Hoskins, Jason W , Tavano, Francesca

Oncotarget | September 16, 2016 | Volume: 7 | Issue: 41 | Pages: 66328-66343

10.18632/oncotarget.11041 | PMID 27579533 Get It

PALB2, CHEK2 and ATM rare variants and cancer risk: data from COGS
Southey, Melissa C. , Goldgar, David E, Winqvist, Robert , Pylkäs, Katri , Michailidou, Kyriaki , Rensburg, Elizabeth J. van , Heikkinen, Tuomas , Hopper, John L. , Dörk, Thilo , Claes, Kathleen , Teo, Zhi L. , Radice, Paolo , Catucci, Irene, Peterlongo, Paolo , Odefrey, Fabrice, Dowty, James G., Schmidt, Marjanka K. , Hogervorst, Frans B.L., Verhoef, Senno, Carpenter, Jane, Clarke, Christine L. , Scott, Rodney J. , Fasching, Peter A. , Haeberle, Lothar, Ekici, Arif B. , Beckmann, Matthias W. , Peto, Julian , Fletcher, Olivia , Johnson, Nichola , Bolla, Manjeet K. , Sawyer, Elinor J. , Tomlinson, Ian , Kerin, Michael J. , Miller, Nicola, Marmé, F., Burwinkel, Barbara , Guénel, Pascal , Truong, Thérèse , Sanchez, Marie, Bojesen, Stig E. , Nielsen, Sune F. , Flyger, Henrik, Benı́tez, Javier , Zamora, M. Pilar , Menéndez, Primitiva, Brenner, Hermann , Stegmaier, Christa, Brauch, Hiltrud , Brüning, Thomas , Ko, Yon‐Dschun, Muranen, Taru , Aittomäki, Kristiina, Blomqvist, Carl , Bogdanova, Natalia , Antonenkova, Natalia, Lindblom, Annika , Margolin, Sara , Mannermaa, Arto, Kataja, Vesa , Kosma, Veli‐Matti , Hartikainen, Jaana M. , Investigators, kConFab, Group, Australian Ovarian Cancer Study, Wauters, Els , Smeets, Dominiek, Beuselinck, Benoit , Floris, Giuseppe , Chang‐Claude, Jenny , Flesch‐Janys, Dieter, Vachon, Celine M. , McLean, Catriona , Haiman, Christopher A., Henderson, Brian E., Schumacher, Fredrick R. , Kristensen, Vessela, Alnæs, Grethe Grenaker, Zheng, Wei , Hunter, David J. , Lindström, Sara, Hankinson, Susan E. , Kraft, Peter , Andrulis, Irene L. , Knight, Julia A. , Glendon, Gord, Mulligan, Anna Marie , Jukkola‐Vuorinen, Arja , Grip, Mervi, Kauppila, Saila , Devilee, Peter , Tollenaar, Robert A.E.M., Seynaeve, Caroline, García‐Closas, Montserrat , Figueroa, Jonine D. , Lissowska, Jolanta , Darabi, Hatef, Eriksson, Mikael , Eccles, Diana M, Tapper, William , Gerty, Sue, Hooning, Maartje J. , Collée, J. Margriet, Tilanus‐Linthorst, Madeleine M.A., Li, Jingmei , Brand, Judith S. , Humphreys, Keith , Reed, Malcolm , Luccarini, Craig , Baynes, Caroline, Dunning, Alison M. , Hamann, Ute, Torres, Diana , Ulmer, Hans Ulrich, Rüdiger, Thomas , Jakubowska, Anna , Lubiński, Jan , Jaworska, Katarzyna, Durda, Katarzyna, Slager, Susan, Yannoukakos, Drakoulis , Swerdlow, Anthony J. , Ashworth, Alan , Orr, Nick , Jones, Michael E. , González‐Neira, Anna , Pita, Guillermo , Alonso, M. Rosario, Álvarez, Núria, Herrero, Daniel, Tessier, Daniel C., Vincent, Daniel , Bacot, François, Simard, Jacques , Dumont, Martine , Soucy, Penny, Eeles, Rosalind A. , Muir, Kenneth , Grönberg, Henrik , Schleutker, Johanna , Nordestgaard, Børge G. , Weischer, Maren , Travis, Ruth C. , Neal, David E. , Donovan, Jenny , Hamdy, Freddie C. , Stanford, Janet L. , Blot, William J. , Thibodeau, Stephen N. , Schaid, Daniel J. , Kelley, Joseph L., Maier, Christiane, Kibel, Adam S. , Butterbach, Katja, Kaneva, Radka , Batra, Jyotsna , Teixeira, Manuel R. , Olama, Ali Amin Al , Benlloch, Sara, Hartmann, Arndt , Hein, Alexander , Ruebner, Matthias , Lambrechts, Diether , Nieuwenhuysen, Els Van , Vergote, Ignace , Lambretchs, Sandrina, Rossing, Mary Anne, Nickels, Stefan , Eilber, Ursula, Wang‐Gohrke, Shan , Odunsi, Kunle , Sucheston‐Campbell, Lara, Friel, Grace , Lurie, Galina, Killeen, Jeffrey , Goodman, Marc T. , Runnebaum, Ingo B., Hillemanns, Peter , Pelttari, Liisa M. , Edwards, Robert P., Ness, Roberta B., Moysich, Kirsten B., Heitz, Florian , Harter, Philipp , Kommoss, Stefan , Walsh, Christine , Lester, Jenny, Jensen, Allan , Høgdall, Estrid , Peissel, Bernard , Bernard, Loris, Goode, Ellen L. , Vierkant, Robert A. , Cunningham, Julie M. , Fogarty, Zachary C. , Kalli, Kimberly R., Liang, Dong , Lu, Karen H., Hildebrandt, Michelle A.T., Wu, Xifeng , Levine, Douglas A. , Bisogna, Maria, Iversen, Edwin S., Marks, Jeffrey R. , Akushevich, Lucy , Schildkraut, Joellen M. , Terry, Kathryn L. , Stampfer, Meir J. , Tworoger, Shelley S. , Olson, Sara H. , Salvesen, Helga B., Altena, Anne M. van , Aben, Katja K.H. , Kiemeney, Lambertus A. , Massuger, Leon F.A.G. , Bean, Yukie T., Kelemen, Linda E., Le, Nhu D. , Górski, Bohdan , Menkiszak, Janusz , Høgdall, Claus , Lundvall, Lene, Nedergaard, Lotte , Engelholm, Svend Aage, Dicks, Ed , Campbell, Ian , McNeish, Iain A. , Whittemore, Alice S. , Rothstein, Joseph H. , McGuire, Valerie, Sieh, Weiva , Cai, Hui , Teten, Rachel Threet, Sutphen, Rebecca , McLaughlin, John R, Narod, Steven A., Phelan, Catherine M., Monteiro, Álvaro N.A. , Fenstermacher, David, Lin, Hui‐Yi , Sellers, Thomas A. , Chen, Y. Ann , Chen, Zhihua , Gayther, Simon A. , Ramus, Susan J. , Menon, Usha , Wu, Anna H. , Pearce, Celeste Leigh, Pike, Malcolm C., Dansonka‐Mieszkowska, Agnieszka , Plisiecka-Hałasa, Joanna, Moes-Sosnowska, Joanna , Kupryjańczyk, Jolanta , Song, Honglin , Winship, Ingrid , Chenevix‐Trench, Georgia , Tavtigian, Sean V. , Easton, Doug , Lu, Karen H. , Durocher, Francine , Eccles, Diana , Lambrechts, Diether , Vachon, Celine, Pankratz, Vernon S, Thibodeau, Stephen, Goldgar, David E, Couch, Fergus J. , Tischkowitz, Marc D. , Foulkes, William D. , Dennis, Joe , Nevanlinna, Heli , Reis‐Filho, Jorge S. , Tsimiklis, Helen , Broeks, Annegien , dos‐Santos‐Silva, Isabel , Yang, Rongxi , Ménégaux, F. , Sanchez, Marie, Pérez, José Ignacio Arias , Anton‐Culver, Hoda , Neuhausen, Susan L. , Ziogas, Argyrios , Clarke, Christina A. , Arndt, Volker , Mannermaa, Arto, Spurdle, Amanda B. , Group, Australian Ovarian Cancer Study, Rudolph, Anja , Seibold, Petra , Olson, Janet E. , Vachon, Celine M. , Pankratz, V. Shane , Marchand, Loı̈c Le , Kristensen, Vessela N. , Hankinson, Susan E. , Hollestelle, Antoinette , Chanock, Stephen Jacob , Czene, Kamila , Eriksson, Mikael , Eccles, Diana M, Rafiq, Sajjad , Hooning, Maartje J. , Martens, John W.M. , Hall, Per N , Cox, Angela , Toland, Amanda Ewart , Ambrosone, Christine B. , Wiklund, Fredrik E. , Khaw, Kay‐Tee , Cybulski, Cezary , Cannon‐Albright, Lisa , Park, Jong, Kote‐Jarai, Zsofia , Renner, Stefan P. , Doherty, Jennifer A. , Wilkens, Lynne R. , Bützow, Ralf C. , Modugno, Francesmary , Moysich, Kirsten B., Bois, Andreas du , Karlan, Beth Y. , Kjær, Susanne K. , Bonanni, Bernardo , Fridley, Brooke L. , Larson, Melissa C. , Hildebrandt, Michelle A.T. , Dao, Fanny , Berchuck, Andrew , Cramer, Daniel W. , Poole, Elizabeth M. , Bandera, Elisa V. , Orlow, Irene , Bjørge, Line , Pejovic, Tanja B. , Brooks‐Wilson, Angela , Cook, Linda S. , Gronwald, Jacek , Tyrer, Jonathan P. , Paul, James , Siddiqui, Nadeem , Glasspool, Rosalind , Shu, Xiao‐Ou , McLaughlin, John R, Permuth, Jennifer B. , Gentry‐Maharaj, Aleksandra , Berg, David Van Den , Pharoah, Paul D.P. , Giles, Graham G. , Milne, Roger L. , Pelttari, L M , Dörk, Thilo , Lambrechts, Diether , Kiemeney, Lambertus A , McNeish, Iain A , Peterlongo, Paolo , Ramus, Susan J , Teixeira, Manuel R , Tworoger, Shelley S , van Rensburg, Elizabeth J , Hein, Alexander , Hillemanns, Peter , Jensen, Allan , Vierkant, Robert A , Eccles, Diana , Menon, Usha , Monteiro, Alvaro N , Swerdlow, Anthony J , Moysich, Kirsten , Radice, Paolo , Lissowska, Jolanta , Claes, Kathleen B M , Campbell, Ian G , Eeles, Rosalind A , Southey, Melissa C , Menkiszak, Janusz , Donovan, Jenny L , Muir, Kenneth , Schleutker, Johanna , Travis, Ruth C , Lin, Hui-Yi , Fogarty, Zachary C , Dunning, Alison M , Heitz, Florian , Jakubowska, Anna , Jones, Michael E , Kupryjanczyk, Jolanta , Lambrechts, Diether , Sieh, Weiva , Brenner, Hermann , Guénel, Pascal , Li, Jingmei , Muranen, Taru A , Torres, Diana , García-Closas, Montserrat , Schmidt, Marjanka K , Winship, Ingrid M , Ekici, Arif B , Michailidou, Kyriaki , Hartikainen, Jaana M , Bogdanova, Natalia V , Kraft, Peter , Benitez, Javier , Simard, Jacques , Chenevix-Trench, Georgia , Zheng, Wei , Figueroa, Jonine D , Høgdall, Estrid , Høgdall, Claus K , Batra, Jyotsna , Pylkäs, Katri , Yannoukakos, Drakoulis , Devilee, Peter , Lubinski, Jan , Fletcher, Olivia , Bojesen, Stig E , Goodman, Marc T , Truong, Therese , Mclean, Catriona , Brauch, Hiltrud , Lindblom, Annika , Sawyer, Elinor J , Orr, Nick

Journal of Medical Genetics | September 5, 2016 | Volume: 53 | Issue: 12 | Pages: 800-811

10.1136/jmedgenet-2016-103839 | PMID 27595995 Get It

Background The rarity of mutations in PALB2, CHEK2 and ATM make it difficult to estimate precisely associated cancer risks. Population-based family studies have provided evidence that at least some of these mutations are associated with breast cancer risk as high as those associated with rare BRCA2 mutations. We aimed to estimate the relative risks associated with specific rare variants in PALB2, CHEK2 and ATM via a multicentre case-control study. Methods We genotyped 10 rare mutations using the custom iCOGS array: PALB2 c.1592delT, c.2816T>G and c.3113G>A, CHEK2 c.349A>G, c.538C>T, c.715G>A, c.1036C>T, c.1312G>T, and c.1343T>G and ATM c.7271T>G. We assessed associations with breast cancer risk (42 671 cases and 42 164 controls), as well as prostate (22 301 cases and 22 320 controls) and ovarian (14 542 cases and 23 491 controls) cancer risk, for each variant. Results For European women, strong evidence of association with breast cancer risk was observed for PALB2 c.1592delT OR 3.44 (95% CI 1.39 to 8.52, p=7.1×10−5), PALB2 c.3113G>A OR 4.21 (95% CI 1.84 to 9.60, p=6.9×10−8) and ATM c.7271T>G OR 11.0 (95% CI 1.42 to 85.7, p=0.0012). We also found evidence of association with breast cancer risk for three variants in CHEK2, c.349A>G OR 2.26 (95% CI 1.29 to 3.95), c.1036C>T OR 5.06 (95% CI 1.09 to 23.5) and c.538C>T OR 1.33 (95% CI 1.05 to 1.67) (p≤0.017). Evidence for prostate cancer risk was observed for CHEK2 c.1343T>G OR 3.03 (95% CI 1.53 to 6.03, p=0.0006) for African men and CHEK2 c.1312G>T OR 2.21 (95% CI 1.06 to 4.63, p=0.030) for European men. No evidence of association with ovarian cancer was found for any of these variants. Conclusions This report adds to accumulating evidence that at least some variants in these genes are associated with an increased risk of breast cancer that is clinically important.