The clinical utility and costs of whole-genome sequencing to detect cancer susceptibility variants—a multi-site prospective cohort study

Autor: Aimee L. Davidson, Uwe Dressel, Sarah Norris, Daffodil M. Canson, Dylan M. Glubb, Cristina Fortuno, Georgina E. Hollway, Michael T. Parsons, Miranda E. Vidgen, Oliver Holmes, Lambros T. Koufariotis, Vanessa Lakis, Conrad Leonard, Scott Wood, Qinying Xu, Amy E. McCart Reed, Hilda A. Pickett, Mohammad K. Al-Shinnag, Rachel L. Austin, Jo Burke, Elisa J. Cops, Cassandra B. Nichols, Annabel Goodwin, Marion T. Harris, Megan J. Higgins, Emilia L. Ip, Catherine Kiraly-Borri, Chiyan Lau, Julia L. Mansour, Michael W. Millward, Melissa J. Monnik, Nicholas S. Pachter, Abiramy Ragunathan, Rachel D. Susman, Sharron L. Townshend, Alison H. Trainer, Simon L. Troth, Katherine M. Tucker, Mathew J. Wallis, Maie Walsh, Rachel A. Williams, Ingrid M. Winship, Felicity Newell, Emma Tudini, John V. Pearson, Nicola K. Poplawski, Helen G. Mar Fan, Paul A. James, Amanda B. Spurdle, Nicola Waddell, Robyn L. Ward

Publikováno v: Genome Medicine, Vol 15, Iss 1, Pp 1-16 (2023)

Abstract Background Many families and individuals do not meet criteria for a known hereditary cancer syndrome but display unusual clusters of cancers. These families may carry pathogenic variants in cancer predisposition genes and be at higher risk f

Externí odkaz: https://doaj.org/article/e7517b7792c7450392b54b67bde9ca87

SERPINE1: Role in Cholangiocarcinoma Progression and a Therapeutic Target in the Desmoplastic Microenvironment

Autor: Ralf-Peter Czekay, Craig E. Higgins, Hasan Basri Aydin, Rohan Samarakoon, Nusret Bekir Subasi, Stephen P. Higgins, Hwajeong Lee, Paul J. Higgins

Publikováno v: Cells, Vol 13, Iss 10, p 796 (2024)

A heterogenous population of inflammatory elements, other immune and nonimmune cells and cancer-associated fibroblasts (CAFs) are evident in solid malignancies where they coexist with the growing tumor mass. In highly desmoplastic malignancies, CAFs

Externí odkaz: https://doaj.org/article/3364fa0309614b398c5065f0a181f295

Results and lessons from dual extraction of DNA and RNA from formalin-fixed paraffin-embedded breast tumor tissues for a large Cancer epidemiologic study

Autor: Rochelle Payne Ondracek, Jianhong Chen, Beth Marosy, Sirinapa Szewczyk, Leonard Medico, Amrutha Sherly Mohan, Priya Nair, Rachel Pratt, Janise M. Roh, Thaer Khoury, John Carpten, Lawrence H. Kushi, Julie R. Palmer, Kim Doheny, Warren Davis, Michael J. Higgins, Song Yao, Christine B. Ambrosone

Publikováno v: BMC Genomics, Vol 23, Iss 1, Pp 1-10 (2022)

Abstract Background The use of archived formalin-fixed paraffin-embedded (FFPE) tumor tissues has become a common practice in clinical and epidemiologic genetic research. Simultaneous extraction of DNA and RNA from FFPE tissues is appealing but can b

Externí odkaz: https://doaj.org/article/897299b8de694412bd623262562fbce6

DNA methylation differences in noncoding regions in ER negative breast tumors between Black and White women

Autor: Jianhong Chen, Michael J. Higgins, Qiang Hu, Thaer Khoury, Song Liu, Christine B. Ambrosone, Zhihong Gong

Publikováno v: Frontiers in Oncology, Vol 13 (2023)

IntroductionIncidence of estrogen receptor (ER)-negative breast cancer, an aggressive tumor subtype associated with worse prognosis, is higher among African American/Black women than other US racial and ethnic groups. The reasons for this disparity r

Externí odkaz: https://doaj.org/article/1ee7428404bd4b3ca385a79c10e729c8

Higher burden of cardiometabolic and socioeconomic risk factors in women with type 2 diabetes: an analysis of the Glycemic Reduction Approaches in Diabetes (GRADE) baseline cohort

Autor: C Wright, C Sanders, C Wilson, L Tucker, S Jones, S Douglass, C Patel, A Kumar, S Smith, A Ghosh, C Adams, R Hill, D Martin, J Hu, M Lee, N Patel, O Smith, J Cook, J Day, M Jackson, G Riera, P McGee, J Park, J Jiménez, S Yang, A Carlson, C Martin, H Liu, Y Li, A Krol, K Wright, S Golden, A Sood, J Martinez, D Sanchez, K Burton, Y Gao, S Martin, O Sanchez, C DeSouza, M Johnson, L Estrada, A Jackson, J Higgins, K Martin, J Craig, A Kuhn, L Ngo, Deborah J Wexler, R Chatterjee, E Walker, J Kerr, W Taylor, J Lim, M Perez, R Henry, Vanita R Aroda, R Fraser, Cyrus Desouza, E King, C Campbell, J González, E Diaz, P Zhang, J Marks, S Abraham, A Ross, M Khalid, T Young, J Myers, J Barzilay, B Chambers, G Montes, C Jensen, J McConnell, R Nelson, L Prosser, S Morton, M Curtis, P Wilson, L Young, M Fürst, S Warren, C Newman, S Kuo, N Rasouli, A Werner, L Morton, A Ghazi, M Salam, F Ismail-Beigi, P Kringas, C Baker, E Ellis, A Cherian, L Holloway, M Madden, B Hollis, G Fuller, B Steiner, K Stokes, R Ayala, T Lowe, K Chu, S Durán, D Dyer, A Alfred, J Leger, Nicole M Butera, T Hamilton, J Costello, E Burgess, R Garg, A Maxwell, C Stevens, W Ye, T Tran, L Fischer, M Hurtado, H Schneier, C Lund, R Lorch, M Mullen, J Bantle, K Arnold, D Wexler, A TURCHIN, MS Lee, D Howard, J Tejada, S Hernandez, Tasma Harindhanavudhi, E Schroeder, K Pham, S Kunkel, A Fagan, G Lord, H CHONG, A Smiley, E Debnam, H Petrovitch, M Bäckman, B Kauffman, V Jenkins, B Cramer, JP Crandall, MD McKee, S Behringer-Massera, J Brown-Friday, E Xhori, K Ballentine-Cargill, H Estrella, S Gonzalez de la torre, J Lukin, LS Phillips, D Olson, M Rhee, TS Raines, J Boers, C Gullett, M Maher-Albertelli, R Mungara, L Savoye, CA White, F Morehead, S Person, M Sibymon, S Tanukonda, A Balasubramanyam, R Gaba, P Hollander, E Roe, P Burt, K Chionh, C Falck-Ytter, L Sayyed Kassem, M Tiktin, T Kulow, KA Stancil, J Iacoboni, MV Kononets, L Colosimo, R Goland, J Pring, L Alfano, C Hausheer, K Gumpel, A Kirpitch, JB Green, H AbouAssi, MN Feinglos, J English Jones, RP Zimmer, BM Satterwhite, K Evans Kreider, CR Thacker, CN Mariash, KJ Mather, A Lteif, V Pirics, D Aguillar, S Hurt, R Bergenstal, T Martens, J Hyatt, H Willis, W Konerza, K Kleeberger, R Passi, S Fortmann, M Herson, K Mularski, H Glauber, J Prihoda, B Ash, C Carlson, PA Ramey, E Schield, B Torgrimson-Ojerio, E Panos, S Sahnow, K Bays, K Berame, D Ghioni, J Gluth, K Schell, J Criscola, C Friason, S Nazarov, N Rassouli, R Puttnam, B Ojoawo, C Sanders-Jones, Z El-Haqq, A Kolli, J Meigs, A Dushkin, G Rocchio, M Yepes, H Dulin, M Cayford, A DeManbey, M Hillard, N Thangthaeng, L Gurry, R Kochis, E Raymond, V Ripley, V Aroda, A Loveland, M Hamm, HJ Florez, WM Valencia, S Casula, L Oropesa-Gonzalez, L Hue, AK Riccio Veliz, R Nieto-Martinez, M Gutt, A Ahmann, D Aby-Daniel, F Joarder, V Morimoto, C Sprague, D Yamashita, N Cady, N Rivera-Eschright, P Kirchhoff, B Morales Gomez, J Adducci, A Goncharova, SH Hox, M Matwichyna, NO Bermudez, L Broadwater, RR Ishii, DS Hsia, WT Cefalu, FL Greenway, C Waguespack, N Haynes, A Thomassie, B Bourgeois, C Hazlett, S Mudaliar, S Boeder, J Pettus, D Garcia-Acosta, S Maggs, C DeLue, E Castro, J Krakoff, JM Curtis, T Killean, E Joshevama, K Tsingine, T Karshner, J Albu, FX Pi-Sunyer, S Frances, C Maggio, J Bastawrose, X Gong, MA Banerji, D Lorber, NM Brown, DH Josephson, LL Thomas, M Tsovian, MH Jacobson, MM Mishko, MS Kirkman, JB Buse, J Dostou, K Bergamo, A Goley, JF Largay, S Guarda, J Cuffee, D Culmer, H Almeida, S Coffer, L Kiker, K Josey, WT Garvey, A Agne, S McCullars, RM Cohen, MC Rogge, K Kersey, S Lipp, MB Vonder Meulen, C Underkofler, S Steiner, E Cline, WH Herman, R Pop-Busui, MH Tan, A Waltje, A Katona, L Goodhall, R Eggleston, K Whitley, S Bule, N Kessler, E LaSalle, ER Seaquist, A Bantle, T Harindhanavudhi, B Redmon, M Coe, M Mech, A Taddese, L Lesne, L Kuechenmeister, V Shivaswamy, AL Morales, K Seipel, J Eggert, R Tillson, DS Schade, A Adolphe, M Burge, E Duran-Valdez, P August, MG Rodriguez, O Griffith, A Naik, Barbara I Gulanski, Heidi Krause-Steinrauf, Judith H Lichtman, Jennifer B Green, Colleen E Suratt, Hiba AbouAssi, Andrew J Ahmann, E Gonzalez Hattery, A Ideozu, G McPhee, SA Khan, JB Kimpel, HM Ismail, ME Larkin, M Magee, A Ressing, L Manandhar, F Mwicigi, V Lagari-Libhaber, A Cuadot, YJ Kendal, B Veciana, G Fry, A Dragg, B Gildersleeve, J Arceneaux, M Pavlionis, A Stallings, S Machineni, AL Cherrington, MCR Lawson, C Adkins, T Onadeko, M Razzaghi, C Lyon, R Penaloza, WI Sivitz, LK Knosp, S Bojescu, S Burbach, A Bancroft, FA Jamaleddin Ahmad, D Hernandez McGinnis, B Pucchetti, E Scripsick, A Zamorano, RA DeFronzo, E Cersosimo, M Abdul-Ghani, C Triplitt, D Juarez, RI Garza, H Verastiqui, C Puckett, P Raskin, C Rhee, LF Jordan, S Sao, L Osornio Walker, L Schnurr-Breen, RB Kreymer, D Sturgess, KM Utzschneider, SE Kahn, L Alarcon-Casas Wright, EJ Boyko, EC Tsai, DL Trence, S Trikudanathan, BN Fattaleh, BK Montgomery, KM Atkinson, A Kozedub, T Concepcion, C Moak, N Prikhodko, S Rhothisen, TA Elasy, L Shackelford, R Goidel, N Hinkle, C Lovell, J Lipps Hogan, JB McGill, T Schweiger, S Kissel, C Recklein, MJ Clifton, W Tamborlane, A Camp, B Gulanski, SE Inzucchi, M Alguard, P Gatcomb, K Lessard, L Iannone, A Montosa, E Magenheimer, J Fradkin, HB Burch, AA Bremer, DM Nathan, JM Lachin, H Krause-Steinrauf, N Younes, I Bebu, N Butera, CJ Buys, MR Gramzinski, SD Hall, E Kazemi, E Legowski, C Suratt, M Tripputi, A Arey, J Bethepu, P Mangat Dhaliwal, E Mesimer, M Steffes, J Seegmiller, A Saenger, V Arends, D Gabrielson, T Conner, J Huminik, A Scrymgeour, EZ Soliman, Y Pokharel, ZM Zhang, L Keasler, S Hensley, R Mihalcea, DJ Min, V Perez-Rosas, K Resnicow, H Shao, J Luchsinger, S Assuras, E Groessl, F Sakha, N Hillery, BM Everett, I Abdouch, G Bahtiyar, P Brantley, FE Broyles, G Canaris, P Copeland, JJ Craine, WL Fein, A Gliwa, L Hope, R Meiners, V Meiners, H O’Neal, JE Park, A Sacerdote, E Sledge, L Soni, J Steppel-Reznik, B Brooks-Worrell, CS Hampe, JP Palmer, A Shojaie, L Doner Lotenberg, JM Gallivan, DM Tuncer

Publikováno v: BMJ Open Diabetes Research & Care, Vol 11, Iss 2 (2023)

Introduction Type 2 diabetes mellitus (T2DM) is a powerful risk factor for cardiovascular disease (CVD), conferring a greater relative risk in women than men. We sought to examine sex differences in cardiometabolic risk factors and management in the

Externí odkaz: https://doaj.org/article/c3d468413b944f31987d101f23f3970f