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  1. Article: Primary care physician experiences with integrated pharmacogenomic testing in a community health system.

    Lemke, Amy A / Hutten Selkirk, Christina G / Glaser, Nicole S / Sereika, Annette W / Wake, Dyson T / Hulick, Peter J / Dunnenberger, Henry M

    Personalized medicine

    2017  Volume 14, Issue 5, Page(s) 389–400

    Abstract: Aim: To explore primary care physicians' views of the utility and delivery of direct access to pharmacogenomics (PGx) testing in a community health system.: Methods: This descriptive study assessed the perspectives of 15 healthcare providers ... ...

    Abstract Aim: To explore primary care physicians' views of the utility and delivery of direct access to pharmacogenomics (PGx) testing in a community health system.
    Methods: This descriptive study assessed the perspectives of 15 healthcare providers utilizing qualitative individual interviews.
    Results: Three main themes emerged: perceived value and utility of PGx testing; challenges to implementation in practice; and provider as well as patient needs.
    Conclusion: While providers in this study viewed benefits of PGx testing as avoiding side effects, titrating doses more quickly, improving shared decision-making and providing psychological reassurance, challenges will need to be addressed such as privacy concerns, cost, insurance coverage and understanding the complexity of PGx test results.
    MeSH term(s) Attitude of Health Personnel ; Community Health Planning ; Health Personnel ; Humans ; Pharmacogenetics/methods ; Pharmacogenomic Testing/trends ; Pharmacogenomic Testing/utilization ; Physicians, Primary Care ; Precision Medicine/methods ; Public Health ; Surveys and Questionnaires
    Language English
    Publishing date 2017-08-02
    Publishing country England
    Document type Journal Article ; Research Support, Non-U.S. Gov't
    ZDB-ID 2299146-3
    ISSN 1744-828X ; 1741-0541
    ISSN (online) 1744-828X
    ISSN 1741-0541
    DOI 10.2217/pme-2017-0036
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  2. Article ; Online: Prostate-specific antigen velocity in a prospective prostate cancer screening study of men with genetic predisposition.

    Mikropoulos, Christos / Hutten Selkirk, Christina G / Saya, Sibel / Bancroft, Elizabeth / Vertosick, Emily / Dadaev, Tokhir / Brendler, Charles / Page, Elizabeth / Dias, Alexander / Evans, D Gareth / Rothwell, Jeanette / Maehle, Lovise / Axcrona, Karol / Richardson, Kate / Eccles, Diana / Jensen, Thomas / Osther, Palle J / van Asperen, Christi J / Vasen, Hans /
    Kiemeney, Lambertus A / Ringelberg, Janneke / Cybulski, Cezary / Wokolorczyk, Dominika / Hart, Rachel / Glover, Wayne / Lam, Jimmy / Taylor, Louise / Salinas, Monica / Feliubadaló, Lidia / Oldenburg, Rogier / Cremers, Ruben / Verhaegh, Gerald / van Zelst-Stams, Wendy A / Oosterwijk, Jan C / Cook, Jackie / Rosario, Derek J / Buys, Saundra S / Conner, Tom / Domchek, Susan / Powers, Jacquelyn / Ausems, Margreet G E M / Teixeira, Manuel R / Maia, Sofia / Izatt, Louise / Schmutzler, Rita / Rhiem, Kerstin / Foulkes, William D / Boshari, Talia / Davidson, Rosemarie / Ruijs, Marielle / Helderman-van den Enden, Apollonia T J M / Andrews, Lesley / Walker, Lisa / Snape, Katie / Henderson, Alex / Jobson, Irene / Lindeman, Geoffrey J / Liljegren, Annelie / Harris, Marion / Adank, Muriel A / Kirk, Judy / Taylor, Amy / Susman, Rachel / Chen-Shtoyerman, Rakefet / Pachter, Nicholas / Spigelman, Allan / Side, Lucy / Zgajnar, Janez / Mora, Josefina / Brewer, Carole / Gadea, Neus / Brady, Angela F / Gallagher, David / van Os, Theo / Donaldson, Alan / Stefansdottir, Vigdis / Barwell, Julian / James, Paul A / Murphy, Declan / Friedman, Eitan / Nicolai, Nicola / Greenhalgh, Lynn / Obeid, Elias / Murthy, Vedang / Copakova, Lucia / McGrath, John / Teo, Soo-Hwang / Strom, Sara / Kast, Karin / Leongamornlert, Daniel A / Chamberlain, Anthony / Pope, Jenny / Newlin, Anna C / Aaronson, Neil / Ardern-Jones, Audrey / Bangma, Chris / Castro, Elena / Dearnaley, David / Eyfjord, Jorunn / Falconer, Alison / Foster, Christopher S / Gronberg, Henrik / Hamdy, Freddie C / Johannsson, Oskar / Khoo, Vincent / Lubinski, Jan / Grindedal, Eli Marie / McKinley, Joanne / Shackleton, Kylie / Mitra, Anita V / Moynihan, Clare / Rennert, Gad / Suri, Mohnish / Tricker, Karen / Moss, Sue / Kote-Jarai, Zsofia / Vickers, Andrew / Lilja, Hans / Helfand, Brian T / Eeles, Rosalind A

    British journal of cancer

    2018  Volume 118, Issue 6, Page(s) e17

    Abstract: This corrects the article DOI: 10.1038/bjc.2017.429. ...

    Abstract This corrects the article DOI: 10.1038/bjc.2017.429.
    Language English
    Publishing date 2018-03-06
    Publishing country England
    Document type Journal Article ; Published Erratum
    ZDB-ID 80075-2
    ISSN 1532-1827 ; 0007-0920
    ISSN (online) 1532-1827
    ISSN 0007-0920
    DOI 10.1038/bjc.2018.11
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  3. Article ; Online: Height and Body Mass Index as Modifiers of Breast Cancer Risk in BRCA1/2 Mutation Carriers: A Mendelian Randomization Study.

    Qian, Frank / Wang, Shengfeng / Mitchell, Jonathan / McGuffog, Lesley / Barrowdale, Daniel / Leslie, Goska / Oosterwijk, Jan C / Chung, Wendy K / Evans, D Gareth / Engel, Christoph / Kast, Karin / Aalfs, Cora M / Adank, Muriel A / Adlard, Julian / Agnarsson, Bjarni A / Aittomäki, Kristiina / Alducci, Elisa / Andrulis, Irene L / Arun, Banu K /
    Ausems, Margreet G E M / Azzollini, Jacopo / Barouk-Simonet, Emmanuelle / Barwell, Julian / Belotti, Muriel / Benitez, Javier / Berger, Andreas / Borg, Ake / Bradbury, Angela R / Brunet, Joan / Buys, Saundra S / Caldes, Trinidad / Caligo, Maria A / Campbell, Ian / Caputo, Sandrine M / Chiquette, Jocelyne / Claes, Kathleen B M / Margriet Collée, J / Couch, Fergus J / Coupier, Isabelle / Daly, Mary B / Davidson, Rosemarie / Diez, Orland / Domchek, Susan M / Donaldson, Alan / Dorfling, Cecilia M / Eeles, Ros / Feliubadaló, Lidia / Foretova, Lenka / Fowler, Jeffrey / Friedman, Eitan / Frost, Debra / Ganz, Patricia A / Garber, Judy / Garcia-Barberan, Vanesa / Glendon, Gord / Godwin, Andrew K / Gómez Garcia, Encarna B / Gronwald, Jacek / Hahnen, Eric / Hamann, Ute / Henderson, Alex / Hendricks, Carolyn B / Hopper, John L / Hulick, Peter J / Imyanitov, Evgeny N / Isaacs, Claudine / Izatt, Louise / Izquierdo, Ángel / Jakubowska, Anna / Kaczmarek, Katarzyna / Kang, Eunyoung / Karlan, Beth Y / Kets, Carolien M / Kim, Sung-Won / Kim, Zisun / Kwong, Ava / Laitman, Yael / Lasset, Christine / Hyuk Lee, Min / Won Lee, Jong / Lee, Jihyoun / Lester, Jenny / Lesueur, Fabienne / Loud, Jennifer T / Lubinski, Jan / Mebirouk, Noura / Meijers-Heijboer, Hanne E J / Meindl, Alfons / Miller, Austin / Montagna, Marco / Mooij, Thea M / Morrison, Patrick J / Mouret-Fourme, Emmanuelle / Nathanson, Katherine L / Neuhausen, Susan L / Nevanlinna, Heli / Niederacher, Dieter / Nielsen, Finn C / Nussbaum, Robert L / Offit, Kenneth / Olah, Edith / Ong, Kai-Ren / Ottini, Laura / Park, Sue K / Peterlongo, Paolo / Pfeiler, Georg / Phelan, Catherine M / Poppe, Bruce / Pradhan, Nisha / Radice, Paolo / Ramus, Susan J / Rantala, Johanna / Robson, Mark / Rodriguez, Gustavo C / Schmutzler, Rita K / Hutten Selkirk, Christina G / Shah, Payal D / Simard, Jacques / Singer, Christian F / Sokolowska, Johanna / Stoppa-Lyonnet, Dominique / Sutter, Christian / Yen Tan, Yen / Teixeira, R Manuel / Teo, Soo H / Terry, Mary Beth / Thomassen, Mads / Tischkowitz, Marc / Toland, Amanda E / Tucker, Katherine M / Tung, Nadine / van Asperen, Christi J / van Engelen, Klaartje / van Rensburg, Elizabeth J / Wang-Gohrke, Shan / Wappenschmidt, Barbara / Weitzel, Jeffrey N / Yannoukakos, Drakoulis / Greene, Mark H / Rookus, Matti A / Easton, Douglas F / Chenevix-Trench, Georgia / Antoniou, Antonis C / Goldgar, David E / Olopade, Olufunmilayo I / Rebbeck, Timothy R / Huo, Dezheng

    Journal of the National Cancer Institute

    2018  Volume 111, Issue 4, Page(s) 350–364

    Abstract: Background: BRCA1/2 mutations confer high lifetime risk of breast cancer, although other factors may modify this risk. Whether height or body mass index (BMI) modifies breast cancer risk in BRCA1/2 mutation carriers remains unclear.: Methods: We used ...

    Abstract Background: BRCA1/2 mutations confer high lifetime risk of breast cancer, although other factors may modify this risk. Whether height or body mass index (BMI) modifies breast cancer risk in BRCA1/2 mutation carriers remains unclear.
    Methods: We used Mendelian randomization approaches to evaluate the association of height and BMI on breast cancer risk, using data from the Consortium of Investigators of Modifiers of BRCA1/2 with 14 676 BRCA1 and 7912 BRCA2 mutation carriers, including 11 451 cases of breast cancer. We created a height genetic score using 586 height-associated variants and a BMI genetic score using 93 BMI-associated variants. We examined both observed and genetically determined height and BMI with breast cancer risk using weighted Cox models. All statistical tests were two-sided.
    Results: Observed height was positively associated with breast cancer risk (HR = 1.09 per 10 cm increase, 95% confidence interval [CI] = 1.0 to 1.17; P = 1.17). Height genetic score was positively associated with breast cancer, although this was not statistically significant (per 10 cm increase in genetically predicted height, HR = 1.04, 95% CI = 0.93 to 1.17; P = .47). Observed BMI was inversely associated with breast cancer risk (per 5 kg/m2 increase, HR = 0.94, 95% CI = 0.90 to 0.98; P = .007). BMI genetic score was also inversely associated with breast cancer risk (per 5 kg/m2 increase in genetically predicted BMI, HR = 0.87, 95% CI = 0.76 to 0.98; P = .02). BMI was primarily associated with premenopausal breast cancer.
    Conclusion: Height is associated with overall breast cancer and BMI is associated with premenopausal breast cancer in BRCA1/2 mutation carriers. Incorporating height and BMI, particularly genetic score, into risk assessment may improve cancer management.
    MeSH term(s) Adult ; BRCA1 Protein/genetics ; BRCA2 Protein/genetics ; Body Height ; Body Mass Index ; Breast Neoplasms/etiology ; Breast Neoplasms/pathology ; Female ; Genetic Predisposition to Disease ; Humans ; Mendelian Randomization Analysis ; Mutation ; Polymorphism, Single Nucleotide ; Prognosis ; Risk Factors
    Chemical Substances BRCA1 Protein ; BRCA1 protein, human ; BRCA2 Protein ; BRCA2 protein, human
    Language English
    Publishing date 2018-10-25
    Publishing country United States
    Document type Journal Article ; Research Support, Non-U.S. Gov't
    ZDB-ID 2992-0
    ISSN 1460-2105 ; 0027-8874 ; 0198-0157
    ISSN (online) 1460-2105
    ISSN 0027-8874 ; 0198-0157
    DOI 10.1093/jnci/djy132
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  4. Article ; Online: Mutational spectrum in a worldwide study of 29,700 families with BRCA1 or BRCA2 mutations.

    Rebbeck, Timothy R / Friebel, Tara M / Friedman, Eitan / Hamann, Ute / Huo, Dezheng / Kwong, Ava / Olah, Edith / Olopade, Olufunmilayo I / Solano, Angela R / Teo, Soo-Hwang / Thomassen, Mads / Weitzel, Jeffrey N / Chan, T L / Couch, Fergus J / Goldgar, David E / Kruse, Torben A / Palmero, Edenir Inêz / Park, Sue Kyung / Torres, Diana /
    van Rensburg, Elizabeth J / McGuffog, Lesley / Parsons, Michael T / Leslie, Goska / Aalfs, Cora M / Abugattas, Julio / Adlard, Julian / Agata, Simona / Aittomäki, Kristiina / Andrews, Lesley / Andrulis, Irene L / Arason, Adalgeir / Arnold, Norbert / Arun, Banu K / Asseryanis, Ella / Auerbach, Leo / Azzollini, Jacopo / Balmaña, Judith / Barile, Monica / Barkardottir, Rosa B / Barrowdale, Daniel / Benitez, Javier / Berger, Andreas / Berger, Raanan / Blanco, Amie M / Blazer, Kathleen R / Blok, Marinus J / Bonadona, Valérie / Bonanni, Bernardo / Bradbury, Angela R / Brewer, Carole / Buecher, Bruno / Buys, Saundra S / Caldes, Trinidad / Caliebe, Almuth / Caligo, Maria A / Campbell, Ian / Caputo, Sandrine M / Chiquette, Jocelyne / Chung, Wendy K / Claes, Kathleen B M / Collée, J Margriet / Cook, Jackie / Davidson, Rosemarie / de la Hoya, Miguel / De Leeneer, Kim / de Pauw, Antoine / Delnatte, Capucine / Diez, Orland / Ding, Yuan Chun / Ditsch, Nina / Domchek, Susan M / Dorfling, Cecilia M / Velazquez, Carolina / Dworniczak, Bernd / Eason, Jacqueline / Easton, Douglas F / Eeles, Ros / Ehrencrona, Hans / Ejlertsen, Bent / Engel, Christoph / Engert, Stefanie / Evans, D Gareth / Faivre, Laurence / Feliubadaló, Lidia / Ferrer, Sandra Fert / Foretova, Lenka / Fowler, Jeffrey / Frost, Debra / Galvão, Henrique C R / Ganz, Patricia A / Garber, Judy / Gauthier-Villars, Marion / Gehrig, Andrea / Gerdes, Anne-Marie / Gesta, Paul / Giannini, Giuseppe / Giraud, Sophie / Glendon, Gord / Godwin, Andrew K / Greene, Mark H / Gronwald, Jacek / Gutierrez-Barrera, Angelica / Hahnen, Eric / Hauke, Jan / Henderson, Alex / Hentschel, Julia / Hogervorst, Frans B L / Honisch, Ellen / Imyanitov, Evgeny N / Isaacs, Claudine / Izatt, Louise / Izquierdo, Angel / Jakubowska, Anna / James, Paul / Janavicius, Ramunas / Jensen, Uffe Birk / John, Esther M / Vijai, Joseph / Kaczmarek, Katarzyna / Karlan, Beth Y / Kast, Karin / Investigators, KConFab / Kim, Sung-Won / Konstantopoulou, Irene / Korach, Jacob / Laitman, Yael / Lasa, Adriana / Lasset, Christine / Lázaro, Conxi / Lee, Annette / Lee, Min Hyuk / Lester, Jenny / Lesueur, Fabienne / Liljegren, Annelie / Lindor, Noralane M / Longy, Michel / Loud, Jennifer T / Lu, Karen H / Lubinski, Jan / Machackova, Eva / Manoukian, Siranoush / Mari, Véronique / Martínez-Bouzas, Cristina / Matrai, Zoltan / Mebirouk, Noura / Meijers-Heijboer, Hanne E J / Meindl, Alfons / Mensenkamp, Arjen R / Mickys, Ugnius / Miller, Austin / Montagna, Marco / Moysich, Kirsten B / Mulligan, Anna Marie / Musinsky, Jacob / Neuhausen, Susan L / Nevanlinna, Heli / Ngeow, Joanne / Nguyen, Huu Phuc / Niederacher, Dieter / Nielsen, Henriette Roed / Nielsen, Finn Cilius / Nussbaum, Robert L / Offit, Kenneth / Öfverholm, Anna / Ong, Kai-Ren / Osorio, Ana / Papi, Laura / Papp, Janos / Pasini, Barbara / Pedersen, Inge Sokilde / Peixoto, Ana / Peruga, Nina / Peterlongo, Paolo / Pohl, Esther / Pradhan, Nisha / Prajzendanc, Karolina / Prieur, Fabienne / Pujol, Pascal / Radice, Paolo / Ramus, Susan J / Rantala, Johanna / Rashid, Muhammad Usman / Rhiem, Kerstin / Robson, Mark / Rodriguez, Gustavo C / Rogers, Mark T / Rudaitis, Vilius / Schmidt, Ane Y / Schmutzler, Rita Katharina / Senter, Leigha / Shah, Payal D / Sharma, Priyanka / Side, Lucy E / Simard, Jacques / Singer, Christian F / Skytte, Anne-Bine / Slavin, Thomas P / Snape, Katie / Sobol, Hagay / Southey, Melissa / Steele, Linda / Steinemann, Doris / Sukiennicki, Grzegorz / Sutter, Christian / Szabo, Csilla I / Tan, Yen Y / Teixeira, Manuel R / Terry, Mary Beth / Teulé, Alex / Thomas, Abigail / Thull, Darcy L / Tischkowitz, Marc / Tognazzo, Silvia / Toland, Amanda Ewart / Topka, Sabine / Trainer, Alison H / Tung, Nadine / van Asperen, Christi J / van der Hout, Annemieke H / van der Kolk, Lizet E / van der Luijt, Rob B / Van Heetvelde, Mattias / Varesco, Liliana / Varon-Mateeva, Raymonda / Vega, Ana / Villarreal-Garza, Cynthia / von Wachenfeldt, Anna / Walker, Lisa / Wang-Gohrke, Shan / Wappenschmidt, Barbara / Weber, Bernhard H F / Yannoukakos, Drakoulis / Yoon, Sook-Yee / Zanzottera, Cristina / Zidan, Jamal / Zorn, Kristin K / Hutten Selkirk, Christina G / Hulick, Peter J / Chenevix-Trench, Georgia / Spurdle, Amanda B / Antoniou, Antonis C / Nathanson, Katherine L

    Human mutation

    2018  Volume 39, Issue 5, Page(s) 593–620

    Abstract: The prevalence and spectrum of germline mutations in BRCA1 and BRCA2 have been reported in single populations, with the majority of reports focused on White in Europe and North America. The Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA) has ... ...

    Abstract The prevalence and spectrum of germline mutations in BRCA1 and BRCA2 have been reported in single populations, with the majority of reports focused on White in Europe and North America. The Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA) has assembled data on 18,435 families with BRCA1 mutations and 11,351 families with BRCA2 mutations ascertained from 69 centers in 49 countries on six continents. This study comprehensively describes the characteristics of the 1,650 unique BRCA1 and 1,731 unique BRCA2 deleterious (disease-associated) mutations identified in the CIMBA database. We observed substantial variation in mutation type and frequency by geographical region and race/ethnicity. In addition to known founder mutations, mutations of relatively high frequency were identified in specific racial/ethnic or geographic groups that may reflect founder mutations and which could be used in targeted (panel) first pass genotyping for specific populations. Knowledge of the population-specific mutational spectrum in BRCA1 and BRCA2 could inform efficient strategies for genetic testing and may justify a more broad-based oncogenetic testing in some populations.
    MeSH term(s) BRCA1 Protein/genetics ; BRCA2 Protein/genetics ; Databases, Genetic ; Family ; Geography ; Humans ; Internationality ; Mutation/genetics
    Chemical Substances BRCA1 Protein ; BRCA1 protein, human ; BRCA2 Protein ; BRCA2 protein, human
    Language English
    Publishing date 2018-03-12
    Publishing country United States
    Document type Journal Article ; Research Support, N.I.H., Extramural ; Research Support, Non-U.S. Gov't ; Research Support, U.S. Gov't, Non-P.H.S.
    ZDB-ID 1126646-6
    ISSN 1098-1004 ; 1059-7794
    ISSN (online) 1098-1004
    ISSN 1059-7794
    DOI 10.1002/humu.23406
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