Author: "Thong, Meow-Keong" / Database: OAIster - Searchworks@Jio Institute Digital Library Search Results

Your search keyword '"Thong, Meow-Keong"' showing total 10 results

Start Over Author "Thong, Meow-Keong" Database OAIster

10 results on '"Thong, Meow-Keong"'

1. Cornelia de Lange syndrome in diverse populations.

Author: Dowsett, Leah, Dowsett, Leah, Porras, Antonio R, Kruszka, Paul, Davis, Brandon, Hu, Tommy, Honey, Engela, Badoe, Eben, Thong, Meow-Keong, Leon, Eyby, Girisha, Katta M, Shukla, Anju, Nayak, Shalini S, Shotelersuk, Vorasuk, Megarbane, Andre, Phadke, Shubha, Sirisena, Nirmala D, Dissanayake, Vajira HW, Ferreira, Carlos R, Kisling, Monisha S, Tanpaiboon, Pranoot, Uwineza, Annette, Mutesa, Leon, Tekendo-Ngongang, Cedrik, Wonkam, Ambroise, Fieggen, Karen, Batista, Leticia Cassimiro, Moretti-Ferreira, Danilo, Stevenson, Roger E, Prijoles, Eloise J, Everman, David, Clarkson, Kate, Worthington, Jessica, Kimonis, Virginia, Hisama, Fuki, Crowe, Carol, Wong, Paul, Johnson, Kisha, Clark, Robin D, Bird, Lynne, Masser-Frye, Diane, McDonald, Marie, Willems, Patrick, Roeder, Elizabeth, Saitta, Sulgana, Anyane-Yeoba, Kwame, Demmer, Laurie, Hamajima, Naoki, Stark, Zornitza, Gillies, Greta, Hudgins, Louanne, Dave, Usha, Shalev, Stavit, Siu, Victoria, Ades, Ann, Dubbs, Holly, Raible, Sarah, Kaur, Maninder, Salzano, Emanuela, Jackson, Laird, Deardorff, Matthew, Kline, Antonie, Summar, Marshall, Muenke, Maximilian, Linguraru, Marius George, Krantz, Ian D, Dowsett, Leah, Dowsett, Leah, Porras, Antonio R, Kruszka, Paul, Davis, Brandon, Hu, Tommy, Honey, Engela, Badoe, Eben, Thong, Meow-Keong, Leon, Eyby, Girisha, Katta M, Shukla, Anju, Nayak, Shalini S, Shotelersuk, Vorasuk, Megarbane, Andre, Phadke, Shubha, Sirisena, Nirmala D, Dissanayake, Vajira HW, Ferreira, Carlos R, Kisling, Monisha S, Tanpaiboon, Pranoot, Uwineza, Annette, Mutesa, Leon, Tekendo-Ngongang, Cedrik, Wonkam, Ambroise, Fieggen, Karen, Batista, Leticia Cassimiro, Moretti-Ferreira, Danilo, Stevenson, Roger E, Prijoles, Eloise J, Everman, David, Clarkson, Kate, Worthington, Jessica, Kimonis, Virginia, Hisama, Fuki, Crowe, Carol, Wong, Paul, Johnson, Kisha, Clark, Robin D, Bird, Lynne, Masser-Frye, Diane, McDonald, Marie, Willems, Patrick, Roeder, Elizabeth, Saitta, Sulgana, Anyane-Yeoba, Kwame, Demmer, Laurie, Hamajima, Naoki, Stark, Zornitza, Gillies, Greta, Hudgins, Louanne, Dave, Usha, Shalev, Stavit, Siu, Victoria, Ades, Ann, Dubbs, Holly, Raible, Sarah, Kaur, Maninder, Salzano, Emanuela, Jackson, Laird, Deardorff, Matthew, Kline, Antonie, Summar, Marshall, Muenke, Maximilian, Linguraru, Marius George, and Krantz, Ian D
Abstract: Cornelia de Lange syndrome (CdLS) is a dominant multisystemic malformation syndrome due to mutations in five genes-NIPBL, SMC1A, HDAC8, SMC3, and RAD21. The characteristic facial dysmorphisms include microcephaly, arched eyebrows, synophrys, short nose with depressed bridge and anteverted nares, long philtrum, thin lips, micrognathia, and hypertrichosis. Most affected individuals have intellectual disability, growth deficiency, and upper limb anomalies. This study looked at individuals from diverse populations with both clinical and molecularly confirmed diagnoses of CdLS by facial analysis technology. Clinical data and images from 246 individuals with CdLS were obtained from 15 countries. This cohort included 49% female patients and ages ranged from infancy to 37 years. Individuals were grouped into ancestry categories of African descent, Asian, Latin American, Middle Eastern, and Caucasian. Across these populations, 14 features showed a statistically significant difference. The most common facial features found in all ancestry groups included synophrys, short nose with anteverted nares, and a long philtrum with thin vermillion of the upper lip. Using facial analysis technology we compared 246 individuals with CdLS to 246 gender/age matched controls and found that sensitivity was equal or greater than 95% for all groups. Specificity was equal or greater than 91%. In conclusion, we present consistent clinical findings from global populations with CdLS while demonstrating how facial analysis technology can be a tool to support accurate diagnoses in the clinical setting. This work, along with prior studies in this arena, will assist in earlier detection, recognition, and treatment of CdLS worldwide.
Published: 2019

2. Psychosocial impact of undergoing prostate cancer screening for men with BRCA1 or BRCA2 mutations

Author: Bancroft, Elizabeth K., Saya, Sibel, Page, Elizabeth C., Myhill, Kathryn, Thomas, Sarah, Pope, Jennifer, Chamberlain, Anthony, Hart, Rachel, Glover, Wayne, Cook, Jackie, Rosario, Derek J., Helfand, Brian T., Selkirk, Christina Hutten, Davidson, Rosemarie, Longmuir, Mark, Eccles, Diana M., Gadea, Neus, Brewer, Carole, Barwell, Julian, Salinas, Monica, Greenhalgh, Lynn, Tischkowitz, Marc, Henderson, Alex, Evans, David Gareth, Buys, Saundra S., Eeles, Rosalind A., Aaronson, Neil K., Eeles, Rosalind, Bancroft, Elizabeth, Page, Elizabeth, Kote-Jarai, Zsofia, Ardern-Jones, Audrey, Bangma, Chris, Castro, Elena, Dearnaley, David, Falconer, Alison, Foster, Christopher, Gronberg, Henrik, Hamdy, Freddie C., Johannsson, Oskar Thor, Khoo, Vincent, Eccles, Diana, Lilja, Hans, Evans, Gareth, Eyfjord, Jorunn, Lubinski, Jan, Maehle, Lovise, Mikropoulos, Christos, Millner, Alan, Mitra, Anita, Offman, Judith, Moynihan, Clare, Rennert, Gad, Suri, Mohnish, Dias, Alex, Taylor, Natalie, D'Mello, Lucia, Pope, Jenny, James, Paul, Mitchell, Gillian, Shanley, Sue, Richardson, Kate, McKinley, Joanne, Petelin, Lara, Murphy, Morgan, Mascarenhas, Lyon, Murphy, Declan, Lam, Jimmy, Taylor, Louise, Miller, Cathy, Stapleton, Alan, Chong, Michael, Suthers, Graeme, Poplawski, Nicola, Tucker, Katherine, Andrews, Lesley, Duffy, Jessica, Millard, Richard, Ward, Robyn, Williams, Rachel, Stricker, Phillip, Kirk, Judy, Bowman, Michelle, Patel, Manish, Harris, Marion, O'Connell, Shona, Hunt, Clare, Smyth, Courtney, Frydenberg, Mark, Lindeman, Geoffrey, Shackleton, Kylie, Morton, Catherine, Susman, Rachel, McGaughran, Julie, Boon, Melanie, Pachter, Nicholas, Townshend, Sharron, Schofield, Lyn, Nicholls, Cassandra, Spigelman, Allan, Gleeson, Margaret, Amor, David, Burke, Jo, Patterson, Briony, Swindle, Peter, Scott, Rodney, Foulkes, William, Boshari, Talia, Aprikian, Armen, Jensen, Thomas, Bojeson, Anders, Osther, Palle, Skytte, Anne-Bine, Cruger, Dorthe, Tondering, Majbritt Kure, Gerdes, Anne-Marie, Schmutzler, Rita, Rhiem, Kerstin, Wihler, Petra, Kast, K., Griebsch, C., Johannsson, Oskar, Stefansdottir, Vigdis, Murthy, Vedang, Sarin, Rajiv, Awatagiri, Kasturi, Ghonge, Sujata, Kowtal, Pradnya, Mulgund, Gouri, Gallagher, David, Bambury, Richard, Farrell, Michael, Gallagher, Fergal, Kiernan, Ingrid, Friedman, Eitan, Chen-Shtoyerman, Rakefet, Basevitch, Alon, Leibovici, Dan, Melzer, Ehud, Ben-Yehoshua, Sagi Josefsberg, Nicolai, Nicola, Radice, Paolo, Valdagni, Riccardo, Magnani, Tiziana, Gay, Simona, Teo, Soo Hwang, Tan, Hui Meng, Yoon, Sook-Yee, Thong, Meow Keong, Vasen, Hans, Ringleberg, Janneke, van Asperen, Christi, Kiemeney, Bart, van Zelst-Stams, Wendy, Ausems, Margreet G. E. M., van der Luijt, Rob B., van Os, Theo, Ruijs, Marielle W. G., Adank, Muriel A., Oldenburg, Rogier A., Helderman-van den Enden, A. Paula T. J. M., Caanen, B. A. H., Oosterwijk, Jan C., Moller, Pal, Brennhovd, Bjorn, Medvik, Heidi, Hanslien, Eldbjorg, Grindedal, Eli Marie, Cybulski, Cezary, Wokolorczyk, Dominika, Teixeira, Manuel, Maia, Sofia, Peixoto, Ana, Henrique, Rui, Oliveira, Jorge, Goncalves, Nuno, Araujo, Luis, Seixas, Manuela, Souto, Joao Paulo, Nogueira, Pedro, Copakova, Lucia, Zgajnar, Janez, Krajc, Mateja, Vrecar, Alenka, Capella, Gabriel, Ramon y Cajal, Teresa, Fisas, David, Mora, Josefina, Esquena, Salvador, Balmana, Judith, Morote, Juan, Liljegren, Annelie, Hjalm-Eriksson, Marie, Ekdahl, Karl-Johan, Carlsson, Stefan, George, Angela, Kemp, Zoe, Wiggins, Jennifer, Moss, Cathryn, Van As, Nicholas, Thompson, Alan, Ogden, Chris, Woodhouse, Christopher, Kumar, Pardeep, Evans, D. Gareth, Bulman, Barbara, Rothwell, Jeanette, Tricker, Karen, Wise, Gillian, Mercer, Catherine, McBride, Donna, Costello, Philandra, Pearce, Allison, Torokwa, Audrey, Paterson, Joan, Clowes, Virginia, Taylor, Amy, Newcombe, Barbara, Walker, Lisa, Halliday, Dorothy, Stayner, Barbara, Fleming-Brown, D., Snape, Katie, Hanson, Helen, Hodgson, Shirley, Brice, Glen, Homfray, Tessa, Hammond, Carrie, Kohut, Kelly, Anjum, Uruj, Dearing, Audrey, Mencias, Mark, Potter, Alison, Renton, Caroline, Searle, Anne, Hill, Kathryn, Goodman, Selina, Garcia, Lynda, Devlin, Gemma, Everest, Sarah, Nadolski, Maria, Douglas, Fiona, Jobson, Irene, Paez, Edgar, Donaldson, Alan, Tomkins, Sue, Langman, Caroline, Jacobs, Chris, Pichert, Gabriella, Shaw, Adam, Kulkarni, Anju, Tripathi, Vishakha, Rose, Sarah, Compton, Cecilia, Watson, Michelle, Reinholtz, Cherylin, Brady, Angela, Dorkins, Huw, Melville, Athalie, Kosicka-Slawinska, Monika, Cummings, Carole, Kiesel, Vicki, Bartlett, Marion, Randhawa, Kashmir, Ellery, Natalie, Side, Lucy, Male, Alison, Simon, Kate, Rees, Katie, Tidey, Lizzie, Gurasashvili, Jana, Nevitt, Louise, Ingram, Stuart, Howell, Alice, Rosario, Derek, Catto, James, Howson, Joanne, Ong, Kai-Ren, Chapman, Cyril, Cole, Trevor, Heaton, Tricia, Hoffman, Jonathan, Burgess, Lucy, Huber, Camilla, Islam, Farah, Watt, Cathy, Duncan, Alexis, Kockelbergh, Roger, Mzazi, Shumikazi, Dineen, Amy, Sattar, Ayisha, Kaemba, Beckie, Sidat, Zahirah, Patel, Nafisa, Siguake, Kas, Birt, Angela, Poultney, Una, Umez-Eronini, Nkem, Mom, Jaswant, Sutton, Vivienne, Cornford, Philip, Bermingham, Nicola, Yesildag, Pembe, Treherne, Katy, Griffiths, Julie, Cogley, Lyn, Gott, Hannah, Rubinstein, Wendy S., Hulick, Peter, McGuire, Michael, Shevrin, Daniel, Kaul, Karen, Weissman, Scott, Newlin, Anna, Vogel, Kristen, Weiss, Shelly, Hook, Nicole, Buys, Saundra, Goldgar, David, Conner, Tom, Venne, Vickie, Stephenson, Robert, Dechet, Christopher, Domchek, Susan, Powers, Jacquelyn, Rustgi, Neil, Strom, Sara, Arun, Banu, Davis, John W., Yamamura, Yuko, Obeid, Elias, Giri, Veda, Gross, Laura, Bealin, Lisa, Cooney, Kathy, Stoffel, Elena, Okoth, Linda, Bancroft, Elizabeth K., Saya, Sibel, Page, Elizabeth C., Myhill, Kathryn, Thomas, Sarah, Pope, Jennifer, Chamberlain, Anthony, Hart, Rachel, Glover, Wayne, Cook, Jackie, Rosario, Derek J., Helfand, Brian T., Selkirk, Christina Hutten, Davidson, Rosemarie, Longmuir, Mark, Eccles, Diana M., Gadea, Neus, Brewer, Carole, Barwell, Julian, Salinas, Monica, Greenhalgh, Lynn, Tischkowitz, Marc, Henderson, Alex, Evans, David Gareth, Buys, Saundra S., Eeles, Rosalind A., Aaronson, Neil K., Eeles, Rosalind, Bancroft, Elizabeth, Page, Elizabeth, Kote-Jarai, Zsofia, Ardern-Jones, Audrey, Bangma, Chris, Castro, Elena, Dearnaley, David, Falconer, Alison, Foster, Christopher, Gronberg, Henrik, Hamdy, Freddie C., Johannsson, Oskar Thor, Khoo, Vincent, Eccles, Diana, Lilja, Hans, Evans, Gareth, Eyfjord, Jorunn, Lubinski, Jan, Maehle, Lovise, Mikropoulos, Christos, Millner, Alan, Mitra, Anita, Offman, Judith, Moynihan, Clare, Rennert, Gad, Suri, Mohnish, Dias, Alex, Taylor, Natalie, D'Mello, Lucia, Pope, Jenny, James, Paul, Mitchell, Gillian, Shanley, Sue, Richardson, Kate, McKinley, Joanne, Petelin, Lara, Murphy, Morgan, Mascarenhas, Lyon, Murphy, Declan, Lam, Jimmy, Taylor, Louise, Miller, Cathy, Stapleton, Alan, Chong, Michael, Suthers, Graeme, Poplawski, Nicola, Tucker, Katherine, Andrews, Lesley, Duffy, Jessica, Millard, Richard, Ward, Robyn, Williams, Rachel, Stricker, Phillip, Kirk, Judy, Bowman, Michelle, Patel, Manish, Harris, Marion, O'Connell, Shona, Hunt, Clare, Smyth, Courtney, Frydenberg, Mark, Lindeman, Geoffrey, Shackleton, Kylie, Morton, Catherine, Susman, Rachel, McGaughran, Julie, Boon, Melanie, Pachter, Nicholas, Townshend, Sharron, Schofield, Lyn, Nicholls, Cassandra, Spigelman, Allan, Gleeson, Margaret, Amor, David, Burke, Jo, Patterson, Briony, Swindle, Peter, Scott, Rodney, Foulkes, William, Boshari, Talia, Aprikian, Armen, Jensen, Thomas, Bojeson, Anders, Osther, Palle, Skytte, Anne-Bine, Cruger, Dorthe, Tondering, Majbritt Kure, Gerdes, Anne-Marie, Schmutzler, Rita, Rhiem, Kerstin, Wihler, Petra, Kast, K., Griebsch, C., Johannsson, Oskar, Stefansdottir, Vigdis, Murthy, Vedang, Sarin, Rajiv, Awatagiri, Kasturi, Ghonge, Sujata, Kowtal, Pradnya, Mulgund, Gouri, Gallagher, David, Bambury, Richard, Farrell, Michael, Gallagher, Fergal, Kiernan, Ingrid, Friedman, Eitan, Chen-Shtoyerman, Rakefet, Basevitch, Alon, Leibovici, Dan, Melzer, Ehud, Ben-Yehoshua, Sagi Josefsberg, Nicolai, Nicola, Radice, Paolo, Valdagni, Riccardo, Magnani, Tiziana, Gay, Simona, Teo, Soo Hwang, Tan, Hui Meng, Yoon, Sook-Yee, Thong, Meow Keong, Vasen, Hans, Ringleberg, Janneke, van Asperen, Christi, Kiemeney, Bart, van Zelst-Stams, Wendy, Ausems, Margreet G. E. M., van der Luijt, Rob B., van Os, Theo, Ruijs, Marielle W. G., Adank, Muriel A., Oldenburg, Rogier A., Helderman-van den Enden, A. Paula T. J. M., Caanen, B. A. H., Oosterwijk, Jan C., Moller, Pal, Brennhovd, Bjorn, Medvik, Heidi, Hanslien, Eldbjorg, Grindedal, Eli Marie, Cybulski, Cezary, Wokolorczyk, Dominika, Teixeira, Manuel, Maia, Sofia, Peixoto, Ana, Henrique, Rui, Oliveira, Jorge, Goncalves, Nuno, Araujo, Luis, Seixas, Manuela, Souto, Joao Paulo, Nogueira, Pedro, Copakova, Lucia, Zgajnar, Janez, Krajc, Mateja, Vrecar, Alenka, Capella, Gabriel, Ramon y Cajal, Teresa, Fisas, David, Mora, Josefina, Esquena, Salvador, Balmana, Judith, Morote, Juan, Liljegren, Annelie, Hjalm-Eriksson, Marie, Ekdahl, Karl-Johan, Carlsson, Stefan, George, Angela, Kemp, Zoe, Wiggins, Jennifer, Moss, Cathryn, Van As, Nicholas, Thompson, Alan, Ogden, Chris, Woodhouse, Christopher, Kumar, Pardeep, Evans, D. Gareth, Bulman, Barbara, Rothwell, Jeanette, Tricker, Karen, Wise, Gillian, Mercer, Catherine, McBride, Donna, Costello, Philandra, Pearce, Allison, Torokwa, Audrey, Paterson, Joan, Clowes, Virginia, Taylor, Amy, Newcombe, Barbara, Walker, Lisa, Halliday, Dorothy, Stayner, Barbara, Fleming-Brown, D., Snape, Katie, Hanson, Helen, Hodgson, Shirley, Brice, Glen, Homfray, Tessa, Hammond, Carrie, Kohut, Kelly, Anjum, Uruj, Dearing, Audrey, Mencias, Mark, Potter, Alison, Renton, Caroline, Searle, Anne, Hill, Kathryn, Goodman, Selina, Garcia, Lynda, Devlin, Gemma, Everest, Sarah, Nadolski, Maria, Douglas, Fiona, Jobson, Irene, Paez, Edgar, Donaldson, Alan, Tomkins, Sue, Langman, Caroline, Jacobs, Chris, Pichert, Gabriella, Shaw, Adam, Kulkarni, Anju, Tripathi, Vishakha, Rose, Sarah, Compton, Cecilia, Watson, Michelle, Reinholtz, Cherylin, Brady, Angela, Dorkins, Huw, Melville, Athalie, Kosicka-Slawinska, Monika, Cummings, Carole, Kiesel, Vicki, Bartlett, Marion, Randhawa, Kashmir, Ellery, Natalie, Side, Lucy, Male, Alison, Simon, Kate, Rees, Katie, Tidey, Lizzie, Gurasashvili, Jana, Nevitt, Louise, Ingram, Stuart, Howell, Alice, Rosario, Derek, Catto, James, Howson, Joanne, Ong, Kai-Ren, Chapman, Cyril, Cole, Trevor, Heaton, Tricia, Hoffman, Jonathan, Burgess, Lucy, Huber, Camilla, Islam, Farah, Watt, Cathy, Duncan, Alexis, Kockelbergh, Roger, Mzazi, Shumikazi, Dineen, Amy, Sattar, Ayisha, Kaemba, Beckie, Sidat, Zahirah, Patel, Nafisa, Siguake, Kas, Birt, Angela, Poultney, Una, Umez-Eronini, Nkem, Mom, Jaswant, Sutton, Vivienne, Cornford, Philip, Bermingham, Nicola, Yesildag, Pembe, Treherne, Katy, Griffiths, Julie, Cogley, Lyn, Gott, Hannah, Rubinstein, Wendy S., Hulick, Peter, McGuire, Michael, Shevrin, Daniel, Kaul, Karen, Weissman, Scott, Newlin, Anna, Vogel, Kristen, Weiss, Shelly, Hook, Nicole, Buys, Saundra, Goldgar, David, Conner, Tom, Venne, Vickie, Stephenson, Robert, Dechet, Christopher, Domchek, Susan, Powers, Jacquelyn, Rustgi, Neil, Strom, Sara, Arun, Banu, Davis, John W., Yamamura, Yuko, Obeid, Elias, Giri, Veda, Gross, Laura, Bealin, Lisa, Cooney, Kathy, Stoffel, Elena, and Okoth, Linda
Abstract: Objectives To report the baseline results of a longitudinal psychosocial study that forms part of the IMPACT study, a multi-national investigation of targeted prostate cancer (PCa) screening among men with a known pathogenic germline mutation in the BRCA1 or BRCA2 genes. Particpants and Methods Men enrolled in the IMPACT study were invited to complete a questionnaire at collaborating sites prior to each annual screening visit. The questionnaire included sociodemographic characteristics and the following measures: the Hospital Anxiety and Depression Scale (HADS), Impact of Event Scale (IES), 36-item short-form health survey (SF-36), Memorial Anxiety Scale for Prostate Cancer, Cancer Worry Scale-Revised, risk perception and knowledge. The results of the baseline questionnaire are presented. Results A total of 432 men completed questionnaires: 98 and 160 had mutations in BRCA1 and BRCA2 genes, respectively, and 174 were controls (familial mutation negative). Participants' perception of PCa risk was influenced by genetic status. Knowledge levels were high and unrelated to genetic status. Mean scores for the HADS and SF-36 were within reported general population norms and mean IES scores were within normal range. IES mean intrusion and avoidance scores were significantly higher in BRCA1/BRCA2 carriers than in controls and were higher in men with increased PCa risk perception. At the multivariate level, risk perception contributed more significantly to variance in IES scores than genetic status. Conclusion This is the first study to report the psychosocial profile of men with BRCA1/BRCA2 mutations undergoing PCa screening. No clinically concerning levels of general or cancer-specific distress or poor quality of life were detected in the cohort as a whole. A small subset of participants reported higher levels of distress, suggesting the need for healthcare professionals offering PCa screening to identify these risk factors and offer additional information and support to me
Published: 2019

3. Cornelia de Lange syndrome in diverse populations.

Author: Dowsett, Leah, Dowsett, Leah, Porras, Antonio R, Kruszka, Paul, Davis, Brandon, Hu, Tommy, Honey, Engela, Badoe, Eben, Thong, Meow-Keong, Leon, Eyby, Girisha, Katta M, Shukla, Anju, Nayak, Shalini S, Shotelersuk, Vorasuk, Megarbane, Andre, Phadke, Shubha, Sirisena, Nirmala D, Dissanayake, Vajira HW, Ferreira, Carlos R, Kisling, Monisha S, Tanpaiboon, Pranoot, Uwineza, Annette, Mutesa, Leon, Tekendo-Ngongang, Cedrik, Wonkam, Ambroise, Fieggen, Karen, Batista, Leticia Cassimiro, Moretti-Ferreira, Danilo, Stevenson, Roger E, Prijoles, Eloise J, Everman, David, Clarkson, Kate, Worthington, Jessica, Kimonis, Virginia, Hisama, Fuki, Crowe, Carol, Wong, Paul, Johnson, Kisha, Clark, Robin D, Bird, Lynne, Masser-Frye, Diane, McDonald, Marie, Willems, Patrick, Roeder, Elizabeth, Saitta, Sulgana, Anyane-Yeoba, Kwame, Demmer, Laurie, Hamajima, Naoki, Stark, Zornitza, Gillies, Greta, Hudgins, Louanne, Dave, Usha, Shalev, Stavit, Siu, Victoria, Ades, Ann, Dubbs, Holly, Raible, Sarah, Kaur, Maninder, Salzano, Emanuela, Jackson, Laird, Deardorff, Matthew, Kline, Antonie, Summar, Marshall, Muenke, Maximilian, Linguraru, Marius George, Krantz, Ian D, Dowsett, Leah, Dowsett, Leah, Porras, Antonio R, Kruszka, Paul, Davis, Brandon, Hu, Tommy, Honey, Engela, Badoe, Eben, Thong, Meow-Keong, Leon, Eyby, Girisha, Katta M, Shukla, Anju, Nayak, Shalini S, Shotelersuk, Vorasuk, Megarbane, Andre, Phadke, Shubha, Sirisena, Nirmala D, Dissanayake, Vajira HW, Ferreira, Carlos R, Kisling, Monisha S, Tanpaiboon, Pranoot, Uwineza, Annette, Mutesa, Leon, Tekendo-Ngongang, Cedrik, Wonkam, Ambroise, Fieggen, Karen, Batista, Leticia Cassimiro, Moretti-Ferreira, Danilo, Stevenson, Roger E, Prijoles, Eloise J, Everman, David, Clarkson, Kate, Worthington, Jessica, Kimonis, Virginia, Hisama, Fuki, Crowe, Carol, Wong, Paul, Johnson, Kisha, Clark, Robin D, Bird, Lynne, Masser-Frye, Diane, McDonald, Marie, Willems, Patrick, Roeder, Elizabeth, Saitta, Sulgana, Anyane-Yeoba, Kwame, Demmer, Laurie, Hamajima, Naoki, Stark, Zornitza, Gillies, Greta, Hudgins, Louanne, Dave, Usha, Shalev, Stavit, Siu, Victoria, Ades, Ann, Dubbs, Holly, Raible, Sarah, Kaur, Maninder, Salzano, Emanuela, Jackson, Laird, Deardorff, Matthew, Kline, Antonie, Summar, Marshall, Muenke, Maximilian, Linguraru, Marius George, and Krantz, Ian D
Abstract: Cornelia de Lange syndrome (CdLS) is a dominant multisystemic malformation syndrome due to mutations in five genes-NIPBL, SMC1A, HDAC8, SMC3, and RAD21. The characteristic facial dysmorphisms include microcephaly, arched eyebrows, synophrys, short nose with depressed bridge and anteverted nares, long philtrum, thin lips, micrognathia, and hypertrichosis. Most affected individuals have intellectual disability, growth deficiency, and upper limb anomalies. This study looked at individuals from diverse populations with both clinical and molecularly confirmed diagnoses of CdLS by facial analysis technology. Clinical data and images from 246 individuals with CdLS were obtained from 15 countries. This cohort included 49% female patients and ages ranged from infancy to 37 years. Individuals were grouped into ancestry categories of African descent, Asian, Latin American, Middle Eastern, and Caucasian. Across these populations, 14 features showed a statistically significant difference. The most common facial features found in all ancestry groups included synophrys, short nose with anteverted nares, and a long philtrum with thin vermillion of the upper lip. Using facial analysis technology we compared 246 individuals with CdLS to 246 gender/age matched controls and found that sensitivity was equal or greater than 95% for all groups. Specificity was equal or greater than 91%. In conclusion, we present consistent clinical findings from global populations with CdLS while demonstrating how facial analysis technology can be a tool to support accurate diagnoses in the clinical setting. This work, along with prior studies in this arena, will assist in earlier detection, recognition, and treatment of CdLS worldwide.
Published: 2019

4. A comparative study of patients' perceptions of genetic and genomic medicine services in California and Malaysia.

Author: Qian, Emily, Qian, Emily, Thong, Meow-Keong, Flodman, Pamela, Gargus, Jay, Qian, Emily, Qian, Emily, Thong, Meow-Keong, Flodman, Pamela, and Gargus, Jay
Abstract: In the era of personalized and genomic medicine, awareness of patients with rare diseases is increasing as new approaches to diagnosis and treatment are developed. This study examined perceived barriers experienced by families with rare diseases and explored possible differences between participants in Malaysia and California, USA. The study involved N = 108 participants recruited in genetics clinic appointments at the University of Malaya Medical Center and three sites in Southern California. Participants completed a survey involving multiple choice and Likert scale items pertaining to perceived barriers to access genetics-related healthcare. Results from this study provide evidence of similar perceived barriers, despite differences in the two populations. Participants selected the expansion of healthcare provider knowledge of rare diseases to be the most beneficial approach to overcome perceived barriers. In both locations, it was also noted that travel distance to clinic was not perceived as a large stress factor. Taking these observations together, a healthcare model with a central location of providers well-versed in medical genetics may be considered if further data support our findings. The data from this study support a need for improving healthcare provider knowledge of genetics. Future studies exploring how these perceived stress factors are impacting families as well as different methods of educating providers are suggested by findings from the study, as well as studies querying the opinions of those who are unable to access genetics services.
Published: 2019

5. Cornelia de Lange syndrome in diverse populations

Author: Dowsett, Leah, Dowsett, Leah, Porras, Antonio R, Kruszka, Paul, Davis, Brandon, Hu, Tommy, Honey, Engela, Badoe, Eben, Thong, Meow‐Keong, Leon, Eyby, Girisha, Katta M, Shukla, Anju, Nayak, Shalini S, Shotelersuk, Vorasuk, Megarbane, Andre, Phadke, Shubha, Sirisena, Nirmala D, Dissanayake, Vajira HW, Ferreira, Carlos R, Kisling, Monisha S, Tanpaiboon, Pranoot, Uwineza, Annette, Mutesa, Leon, Tekendo‐Ngongang, Cedrik, Wonkam, Ambroise, Fieggen, Karen, Batista, Leticia Cassimiro, Moretti‐Ferreira, Danilo, Stevenson, Roger E, Prijoles, Eloise J, Everman, David, Clarkson, Kate, Worthington, Jessica, Kimonis, Virginia, Hisama, Fuki, Crowe, Carol, Wong, Paul, Johnson, Kisha, Clark, Robin D, Bird, Lynne, Masser‐Frye, Diane, McDonald, Marie, Willems, Patrick, Roeder, Elizabeth, Saitta, Sulgana, Anyane‐Yeoba, Kwame, Demmer, Laurie, Hamajima, Naoki, Stark, Zornitza, Gillies, Greta, Hudgins, Louanne, Dave, Usha, Shalev, Stavit, Siu, Victoria, Gupta, Neerja, Kabra, Madhulika, Ades, Ann, Dubbs, Holly, Raible, Sarah, Kaur, Maninder, Salzano, Emanuela, Jackson, Laird, Deardorff, Matthew, Kline, Antonie, Summar, Marshall, Muenke, Maximilian, Linguraru, Marius George, Krantz, Ian D, Dowsett, Leah, Dowsett, Leah, Porras, Antonio R, Kruszka, Paul, Davis, Brandon, Hu, Tommy, Honey, Engela, Badoe, Eben, Thong, Meow‐Keong, Leon, Eyby, Girisha, Katta M, Shukla, Anju, Nayak, Shalini S, Shotelersuk, Vorasuk, Megarbane, Andre, Phadke, Shubha, Sirisena, Nirmala D, Dissanayake, Vajira HW, Ferreira, Carlos R, Kisling, Monisha S, Tanpaiboon, Pranoot, Uwineza, Annette, Mutesa, Leon, Tekendo‐Ngongang, Cedrik, Wonkam, Ambroise, Fieggen, Karen, Batista, Leticia Cassimiro, Moretti‐Ferreira, Danilo, Stevenson, Roger E, Prijoles, Eloise J, Everman, David, Clarkson, Kate, Worthington, Jessica, Kimonis, Virginia, Hisama, Fuki, Crowe, Carol, Wong, Paul, Johnson, Kisha, Clark, Robin D, Bird, Lynne, Masser‐Frye, Diane, McDonald, Marie, Willems, Patrick, Roeder, Elizabeth, Saitta, Sulgana, Anyane‐Yeoba, Kwame, Demmer, Laurie, Hamajima, Naoki, Stark, Zornitza, Gillies, Greta, Hudgins, Louanne, Dave, Usha, Shalev, Stavit, Siu, Victoria, Gupta, Neerja, Kabra, Madhulika, Ades, Ann, Dubbs, Holly, Raible, Sarah, Kaur, Maninder, Salzano, Emanuela, Jackson, Laird, Deardorff, Matthew, Kline, Antonie, Summar, Marshall, Muenke, Maximilian, Linguraru, Marius George, and Krantz, Ian D
Abstract: Cornelia de Lange syndrome (CdLS) is a dominant multisystemic malformation syndrome due to mutations in five genes-NIPBL, SMC1A, HDAC8, SMC3, and RAD21. The characteristic facial dysmorphisms include microcephaly, arched eyebrows, synophrys, short nose with depressed bridge and anteverted nares, long philtrum, thin lips, micrognathia, and hypertrichosis. Most affected individuals have intellectual disability, growth deficiency, and upper limb anomalies. This study looked at individuals from diverse populations with both clinical and molecularly confirmed diagnoses of CdLS by facial analysis technology. Clinical data and images from 246 individuals with CdLS were obtained from 15 countries. This cohort included 49% female patients and ages ranged from infancy to 37 years. Individuals were grouped into ancestry categories of African descent, Asian, Latin American, Middle Eastern, and Caucasian. Across these populations, 14 features showed a statistically significant difference. The most common facial features found in all ancestry groups included synophrys, short nose with anteverted nares, and a long philtrum with thin vermillion of the upper lip. Using facial analysis technology we compared 246 individuals with CdLS to 246 gender/age matched controls and found that sensitivity was equal or greater than 95% for all groups. Specificity was equal or greater than 91%. In conclusion, we present consistent clinical findings from global populations with CdLS while demonstrating how facial analysis technology can be a tool to support accurate diagnoses in the clinical setting. This work, along with prior studies in this arena, will assist in earlier detection, recognition, and treatment of CdLS worldwide.
Published: 2019

6. Psychosocial impact of undergoing prostate cancer screening for men with BRCA1 or BRCA2 mutations

Author: Bancroft, Elizabeth K., Saya, Sibel, Page, Elizabeth C., Myhill, Kathryn, Thomas, Sarah, Pope, Jennifer, Chamberlain, Anthony, Hart, Rachel, Glover, Wayne, Cook, Jackie, Rosario, Derek J., Helfand, Brian T., Selkirk, Christina Hutten, Davidson, Rosemarie, Longmuir, Mark, Eccles, Diana M., Gadea, Neus, Brewer, Carole, Barwell, Julian, Salinas, Monica, Greenhalgh, Lynn, Tischkowitz, Marc, Henderson, Alex, Evans, David Gareth, Buys, Saundra S., Eeles, Rosalind A., Aaronson, Neil K., Eeles, Rosalind, Bancroft, Elizabeth, Page, Elizabeth, Kote-Jarai, Zsofia, Ardern-Jones, Audrey, Bangma, Chris, Castro, Elena, Dearnaley, David, Falconer, Alison, Foster, Christopher, Gronberg, Henrik, Hamdy, Freddie C., Johannsson, Oskar Thor, Khoo, Vincent, Eccles, Diana, Lilja, Hans, Evans, Gareth, Eyfjord, Jorunn, Lubinski, Jan, Maehle, Lovise, Mikropoulos, Christos, Millner, Alan, Mitra, Anita, Offman, Judith, Moynihan, Clare, Rennert, Gad, Suri, Mohnish, Dias, Alex, Taylor, Natalie, D'Mello, Lucia, Pope, Jenny, James, Paul, Mitchell, Gillian, Shanley, Sue, Richardson, Kate, McKinley, Joanne, Petelin, Lara, Murphy, Morgan, Mascarenhas, Lyon, Murphy, Declan, Lam, Jimmy, Taylor, Louise, Miller, Cathy, Stapleton, Alan, Chong, Michael, Suthers, Graeme, Poplawski, Nicola, Tucker, Katherine, Andrews, Lesley, Duffy, Jessica, Millard, Richard, Ward, Robyn, Williams, Rachel, Stricker, Phillip, Kirk, Judy, Bowman, Michelle, Patel, Manish, Harris, Marion, O'Connell, Shona, Hunt, Clare, Smyth, Courtney, Frydenberg, Mark, Lindeman, Geoffrey, Shackleton, Kylie, Morton, Catherine, Susman, Rachel, McGaughran, Julie, Boon, Melanie, Pachter, Nicholas, Townshend, Sharron, Schofield, Lyn, Nicholls, Cassandra, Spigelman, Allan, Gleeson, Margaret, Amor, David, Burke, Jo, Patterson, Briony, Swindle, Peter, Scott, Rodney, Foulkes, William, Boshari, Talia, Aprikian, Armen, Jensen, Thomas, Bojeson, Anders, Osther, Palle, Skytte, Anne-Bine, Cruger, Dorthe, Tondering, Majbritt Kure, Gerdes, Anne-Marie, Schmutzler, Rita, Rhiem, Kerstin, Wihler, Petra, Kast, K., Griebsch, C., Johannsson, Oskar, Stefansdottir, Vigdis, Murthy, Vedang, Sarin, Rajiv, Awatagiri, Kasturi, Ghonge, Sujata, Kowtal, Pradnya, Mulgund, Gouri, Gallagher, David, Bambury, Richard, Farrell, Michael, Gallagher, Fergal, Kiernan, Ingrid, Friedman, Eitan, Chen-Shtoyerman, Rakefet, Basevitch, Alon, Leibovici, Dan, Melzer, Ehud, Ben-Yehoshua, Sagi Josefsberg, Nicolai, Nicola, Radice, Paolo, Valdagni, Riccardo, Magnani, Tiziana, Gay, Simona, Teo, Soo Hwang, Tan, Hui Meng, Yoon, Sook-Yee, Thong, Meow Keong, Vasen, Hans, Ringleberg, Janneke, van Asperen, Christi, Kiemeney, Bart, van Zelst-Stams, Wendy, Ausems, Margreet G. E. M., van der Luijt, Rob B., van Os, Theo, Ruijs, Marielle W. G., Adank, Muriel A., Oldenburg, Rogier A., Helderman-van den Enden, A. Paula T. J. M., Caanen, B. A. H., Oosterwijk, Jan C., Moller, Pal, Brennhovd, Bjorn, Medvik, Heidi, Hanslien, Eldbjorg, Grindedal, Eli Marie, Cybulski, Cezary, Wokolorczyk, Dominika, Teixeira, Manuel, Maia, Sofia, Peixoto, Ana, Henrique, Rui, Oliveira, Jorge, Goncalves, Nuno, Araujo, Luis, Seixas, Manuela, Souto, Joao Paulo, Nogueira, Pedro, Copakova, Lucia, Zgajnar, Janez, Krajc, Mateja, Vrecar, Alenka, Capella, Gabriel, Ramon y Cajal, Teresa, Fisas, David, Mora, Josefina, Esquena, Salvador, Balmana, Judith, Morote, Juan, Liljegren, Annelie, Hjalm-Eriksson, Marie, Ekdahl, Karl-Johan, Carlsson, Stefan, George, Angela, Kemp, Zoe, Wiggins, Jennifer, Moss, Cathryn, Van As, Nicholas, Thompson, Alan, Ogden, Chris, Woodhouse, Christopher, Kumar, Pardeep, Evans, D. Gareth, Bulman, Barbara, Rothwell, Jeanette, Tricker, Karen, Wise, Gillian, Mercer, Catherine, McBride, Donna, Costello, Philandra, Pearce, Allison, Torokwa, Audrey, Paterson, Joan, Clowes, Virginia, Taylor, Amy, Newcombe, Barbara, Walker, Lisa, Halliday, Dorothy, Stayner, Barbara, Fleming-Brown, D., Snape, Katie, Hanson, Helen, Hodgson, Shirley, Brice, Glen, Homfray, Tessa, Hammond, Carrie, Kohut, Kelly, Anjum, Uruj, Dearing, Audrey, Mencias, Mark, Potter, Alison, Renton, Caroline, Searle, Anne, Hill, Kathryn, Goodman, Selina, Garcia, Lynda, Devlin, Gemma, Everest, Sarah, Nadolski, Maria, Douglas, Fiona, Jobson, Irene, Paez, Edgar, Donaldson, Alan, Tomkins, Sue, Langman, Caroline, Jacobs, Chris, Pichert, Gabriella, Shaw, Adam, Kulkarni, Anju, Tripathi, Vishakha, Rose, Sarah, Compton, Cecilia, Watson, Michelle, Reinholtz, Cherylin, Brady, Angela, Dorkins, Huw, Melville, Athalie, Kosicka-Slawinska, Monika, Cummings, Carole, Kiesel, Vicki, Bartlett, Marion, Randhawa, Kashmir, Ellery, Natalie, Side, Lucy, Male, Alison, Simon, Kate, Rees, Katie, Tidey, Lizzie, Gurasashvili, Jana, Nevitt, Louise, Ingram, Stuart, Howell, Alice, Rosario, Derek, Catto, James, Howson, Joanne, Ong, Kai-Ren, Chapman, Cyril, Cole, Trevor, Heaton, Tricia, Hoffman, Jonathan, Burgess, Lucy, Huber, Camilla, Islam, Farah, Watt, Cathy, Duncan, Alexis, Kockelbergh, Roger, Mzazi, Shumikazi, Dineen, Amy, Sattar, Ayisha, Kaemba, Beckie, Sidat, Zahirah, Patel, Nafisa, Siguake, Kas, Birt, Angela, Poultney, Una, Umez-Eronini, Nkem, Mom, Jaswant, Sutton, Vivienne, Cornford, Philip, Bermingham, Nicola, Yesildag, Pembe, Treherne, Katy, Griffiths, Julie, Cogley, Lyn, Gott, Hannah, Rubinstein, Wendy S., Hulick, Peter, McGuire, Michael, Shevrin, Daniel, Kaul, Karen, Weissman, Scott, Newlin, Anna, Vogel, Kristen, Weiss, Shelly, Hook, Nicole, Buys, Saundra, Goldgar, David, Conner, Tom, Venne, Vickie, Stephenson, Robert, Dechet, Christopher, Domchek, Susan, Powers, Jacquelyn, Rustgi, Neil, Strom, Sara, Arun, Banu, Davis, John W., Yamamura, Yuko, Obeid, Elias, Giri, Veda, Gross, Laura, Bealin, Lisa, Cooney, Kathy, Stoffel, Elena, Okoth, Linda, Bancroft, Elizabeth K., Saya, Sibel, Page, Elizabeth C., Myhill, Kathryn, Thomas, Sarah, Pope, Jennifer, Chamberlain, Anthony, Hart, Rachel, Glover, Wayne, Cook, Jackie, Rosario, Derek J., Helfand, Brian T., Selkirk, Christina Hutten, Davidson, Rosemarie, Longmuir, Mark, Eccles, Diana M., Gadea, Neus, Brewer, Carole, Barwell, Julian, Salinas, Monica, Greenhalgh, Lynn, Tischkowitz, Marc, Henderson, Alex, Evans, David Gareth, Buys, Saundra S., Eeles, Rosalind A., Aaronson, Neil K., Eeles, Rosalind, Bancroft, Elizabeth, Page, Elizabeth, Kote-Jarai, Zsofia, Ardern-Jones, Audrey, Bangma, Chris, Castro, Elena, Dearnaley, David, Falconer, Alison, Foster, Christopher, Gronberg, Henrik, Hamdy, Freddie C., Johannsson, Oskar Thor, Khoo, Vincent, Eccles, Diana, Lilja, Hans, Evans, Gareth, Eyfjord, Jorunn, Lubinski, Jan, Maehle, Lovise, Mikropoulos, Christos, Millner, Alan, Mitra, Anita, Offman, Judith, Moynihan, Clare, Rennert, Gad, Suri, Mohnish, Dias, Alex, Taylor, Natalie, D'Mello, Lucia, Pope, Jenny, James, Paul, Mitchell, Gillian, Shanley, Sue, Richardson, Kate, McKinley, Joanne, Petelin, Lara, Murphy, Morgan, Mascarenhas, Lyon, Murphy, Declan, Lam, Jimmy, Taylor, Louise, Miller, Cathy, Stapleton, Alan, Chong, Michael, Suthers, Graeme, Poplawski, Nicola, Tucker, Katherine, Andrews, Lesley, Duffy, Jessica, Millard, Richard, Ward, Robyn, Williams, Rachel, Stricker, Phillip, Kirk, Judy, Bowman, Michelle, Patel, Manish, Harris, Marion, O'Connell, Shona, Hunt, Clare, Smyth, Courtney, Frydenberg, Mark, Lindeman, Geoffrey, Shackleton, Kylie, Morton, Catherine, Susman, Rachel, McGaughran, Julie, Boon, Melanie, Pachter, Nicholas, Townshend, Sharron, Schofield, Lyn, Nicholls, Cassandra, Spigelman, Allan, Gleeson, Margaret, Amor, David, Burke, Jo, Patterson, Briony, Swindle, Peter, Scott, Rodney, Foulkes, William, Boshari, Talia, Aprikian, Armen, Jensen, Thomas, Bojeson, Anders, Osther, Palle, Skytte, Anne-Bine, Cruger, Dorthe, Tondering, Majbritt Kure, Gerdes, Anne-Marie, Schmutzler, Rita, Rhiem, Kerstin, Wihler, Petra, Kast, K., Griebsch, C., Johannsson, Oskar, Stefansdottir, Vigdis, Murthy, Vedang, Sarin, Rajiv, Awatagiri, Kasturi, Ghonge, Sujata, Kowtal, Pradnya, Mulgund, Gouri, Gallagher, David, Bambury, Richard, Farrell, Michael, Gallagher, Fergal, Kiernan, Ingrid, Friedman, Eitan, Chen-Shtoyerman, Rakefet, Basevitch, Alon, Leibovici, Dan, Melzer, Ehud, Ben-Yehoshua, Sagi Josefsberg, Nicolai, Nicola, Radice, Paolo, Valdagni, Riccardo, Magnani, Tiziana, Gay, Simona, Teo, Soo Hwang, Tan, Hui Meng, Yoon, Sook-Yee, Thong, Meow Keong, Vasen, Hans, Ringleberg, Janneke, van Asperen, Christi, Kiemeney, Bart, van Zelst-Stams, Wendy, Ausems, Margreet G. E. M., van der Luijt, Rob B., van Os, Theo, Ruijs, Marielle W. G., Adank, Muriel A., Oldenburg, Rogier A., Helderman-van den Enden, A. Paula T. J. M., Caanen, B. A. H., Oosterwijk, Jan C., Moller, Pal, Brennhovd, Bjorn, Medvik, Heidi, Hanslien, Eldbjorg, Grindedal, Eli Marie, Cybulski, Cezary, Wokolorczyk, Dominika, Teixeira, Manuel, Maia, Sofia, Peixoto, Ana, Henrique, Rui, Oliveira, Jorge, Goncalves, Nuno, Araujo, Luis, Seixas, Manuela, Souto, Joao Paulo, Nogueira, Pedro, Copakova, Lucia, Zgajnar, Janez, Krajc, Mateja, Vrecar, Alenka, Capella, Gabriel, Ramon y Cajal, Teresa, Fisas, David, Mora, Josefina, Esquena, Salvador, Balmana, Judith, Morote, Juan, Liljegren, Annelie, Hjalm-Eriksson, Marie, Ekdahl, Karl-Johan, Carlsson, Stefan, George, Angela, Kemp, Zoe, Wiggins, Jennifer, Moss, Cathryn, Van As, Nicholas, Thompson, Alan, Ogden, Chris, Woodhouse, Christopher, Kumar, Pardeep, Evans, D. Gareth, Bulman, Barbara, Rothwell, Jeanette, Tricker, Karen, Wise, Gillian, Mercer, Catherine, McBride, Donna, Costello, Philandra, Pearce, Allison, Torokwa, Audrey, Paterson, Joan, Clowes, Virginia, Taylor, Amy, Newcombe, Barbara, Walker, Lisa, Halliday, Dorothy, Stayner, Barbara, Fleming-Brown, D., Snape, Katie, Hanson, Helen, Hodgson, Shirley, Brice, Glen, Homfray, Tessa, Hammond, Carrie, Kohut, Kelly, Anjum, Uruj, Dearing, Audrey, Mencias, Mark, Potter, Alison, Renton, Caroline, Searle, Anne, Hill, Kathryn, Goodman, Selina, Garcia, Lynda, Devlin, Gemma, Everest, Sarah, Nadolski, Maria, Douglas, Fiona, Jobson, Irene, Paez, Edgar, Donaldson, Alan, Tomkins, Sue, Langman, Caroline, Jacobs, Chris, Pichert, Gabriella, Shaw, Adam, Kulkarni, Anju, Tripathi, Vishakha, Rose, Sarah, Compton, Cecilia, Watson, Michelle, Reinholtz, Cherylin, Brady, Angela, Dorkins, Huw, Melville, Athalie, Kosicka-Slawinska, Monika, Cummings, Carole, Kiesel, Vicki, Bartlett, Marion, Randhawa, Kashmir, Ellery, Natalie, Side, Lucy, Male, Alison, Simon, Kate, Rees, Katie, Tidey, Lizzie, Gurasashvili, Jana, Nevitt, Louise, Ingram, Stuart, Howell, Alice, Rosario, Derek, Catto, James, Howson, Joanne, Ong, Kai-Ren, Chapman, Cyril, Cole, Trevor, Heaton, Tricia, Hoffman, Jonathan, Burgess, Lucy, Huber, Camilla, Islam, Farah, Watt, Cathy, Duncan, Alexis, Kockelbergh, Roger, Mzazi, Shumikazi, Dineen, Amy, Sattar, Ayisha, Kaemba, Beckie, Sidat, Zahirah, Patel, Nafisa, Siguake, Kas, Birt, Angela, Poultney, Una, Umez-Eronini, Nkem, Mom, Jaswant, Sutton, Vivienne, Cornford, Philip, Bermingham, Nicola, Yesildag, Pembe, Treherne, Katy, Griffiths, Julie, Cogley, Lyn, Gott, Hannah, Rubinstein, Wendy S., Hulick, Peter, McGuire, Michael, Shevrin, Daniel, Kaul, Karen, Weissman, Scott, Newlin, Anna, Vogel, Kristen, Weiss, Shelly, Hook, Nicole, Buys, Saundra, Goldgar, David, Conner, Tom, Venne, Vickie, Stephenson, Robert, Dechet, Christopher, Domchek, Susan, Powers, Jacquelyn, Rustgi, Neil, Strom, Sara, Arun, Banu, Davis, John W., Yamamura, Yuko, Obeid, Elias, Giri, Veda, Gross, Laura, Bealin, Lisa, Cooney, Kathy, Stoffel, Elena, and Okoth, Linda
Abstract: Objectives To report the baseline results of a longitudinal psychosocial study that forms part of the IMPACT study, a multi-national investigation of targeted prostate cancer (PCa) screening among men with a known pathogenic germline mutation in the BRCA1 or BRCA2 genes. Particpants and Methods Men enrolled in the IMPACT study were invited to complete a questionnaire at collaborating sites prior to each annual screening visit. The questionnaire included sociodemographic characteristics and the following measures: the Hospital Anxiety and Depression Scale (HADS), Impact of Event Scale (IES), 36-item short-form health survey (SF-36), Memorial Anxiety Scale for Prostate Cancer, Cancer Worry Scale-Revised, risk perception and knowledge. The results of the baseline questionnaire are presented. Results A total of 432 men completed questionnaires: 98 and 160 had mutations in BRCA1 and BRCA2 genes, respectively, and 174 were controls (familial mutation negative). Participants' perception of PCa risk was influenced by genetic status. Knowledge levels were high and unrelated to genetic status. Mean scores for the HADS and SF-36 were within reported general population norms and mean IES scores were within normal range. IES mean intrusion and avoidance scores were significantly higher in BRCA1/BRCA2 carriers than in controls and were higher in men with increased PCa risk perception. At the multivariate level, risk perception contributed more significantly to variance in IES scores than genetic status. Conclusion This is the first study to report the psychosocial profile of men with BRCA1/BRCA2 mutations undergoing PCa screening. No clinically concerning levels of general or cancer-specific distress or poor quality of life were detected in the cohort as a whole. A small subset of participants reported higher levels of distress, suggesting the need for healthcare professionals offering PCa screening to identify these risk factors and offer additional information and support to me
Published: 2019

7. Effects of sharing information on drug administration errors in pediatric wards: a pre–post intervention study

Author: Chua,Siew-Siang, Choo,Sim Mei, Sulaiman,Che Zuraini, Omar,Asma, Thong,Meow Keong, Chua,Siew-Siang, Choo,Sim Mei, Sulaiman,Che Zuraini, Omar,Asma, and Thong,Meow Keong
Abstract: Siew-Siang Chua,1 Sim-Mei Choo,1 Che Zuraini Sulaiman,2 Asma Omar,3 Meow-Keong Thong3 1Department of Pharmacy, Faculty of Medicine, University of Malaya, 2Pharmacy Department, University Malaya Medical Centre, 3Department of Paediatrics, Faculty of Medicine, University of Malaya, Kuala Lumpur, Malaysia Background and purpose: Drug administration errors are more likely to reach the patient than other medication errors. The main aim of this study was to determine whether the sharing of information on drug administration errors among health care providers would reduce such problems. Patients and methods: This study involved direct, undisguised observations of drug administrations in two pediatric wards of a major teaching hospital in Kuala Lumpur, Malaysia. This study consisted of two phases: Phase 1 (pre-intervention) and Phase 2 (post-intervention). Data were collected by two observers over a 40-day period in both Phase 1 and Phase 2 of the study. Both observers were pharmacy graduates: Observer 1 just completed her undergraduate pharmacy degree, whereas Observer 2 was doing her one-year internship as a provisionally registered pharmacist in the hospital under study. A drug administration error was defined as a discrepancy between the drug regimen received by the patient and that intended by the prescriber and also drug administration procedures that did not follow standard hospital policies and procedures. Results from Phase 1 of the study were analyzed, presented and discussed with the ward staff before commencement of data collection in Phase 2. Results: A total of 1,284 and 1,401 doses of drugs were administered in Phase 1 and Phase 2, respectively. The rate of drug administration errors reduced significantly from Phase 1 to Phase 2 (44.3% versus 28.6%, respectively; P<0.001). Logistic regression analysis showed that the adjusted odds of drug administration errors in Phase 1 of the study were almost three times that in Phase 2 (P<0.001). The most co
Published: 2017

8. Targeted Prostate Cancer Screening in BRCA1 and BRCA2 Mutation Carriers: Results from the Initial Screening Round of the IMPACT Study

Author: Bancroft, Elizabeth K., Page, Elizabeth C., Castro, Elena, Lilja, Hans, Vickers, Andrew, Sjoberg, Daniel, Assel, Melissa, Foster, Christopher S., Mitchell, Gillian, Drew, Kate, Maehle, Lovise, Axcrona, Karol, Evans, D. Gareth, Bulman, Barbara, Eccles, Diana, McBride, Donna, van Asperen, Christi, Vasen, Hans, Kiemeney, Lambertus A., Ringelberg, Janneke, Cybulski, Cezary, Wokolorczyk, Dominika, Selkirk, Christina, Hulick, Peter J., Bojesen, Anders, Skytte, Anne-Bine, Lam, Jimmy, Taylor, Louise, Oldenburg, Rogier, Cremers, Ruben, Verhaegh, Gerald, van Zelst-Stams, Wendy A., Oosterwijk, Jan C., Blanco, Ignacio, Salinas, Monica, Cook, Jackie, Rosario, Derek J., Buys, Saundra, Conner, Tom, Ausems, Margreet G., Ong, Kai-ren, Hoffman, Jonathan, Domchek, Susan, Powers, Jacquelyn, Teixeira, Manuel R., Maia, Sofia, Foulkes, William D., Taherian, Nassim, Ruijs, Marielle, Helderman-van den Enden, Apollonia T., Izatt, Louise, Davidson, Rosemarie, Adank, Muriel A., Walker, Lisa, Schmutzler, Rita, Tucker, Kathy, Kirk, Judy, Hodgson, Shirley, Harris, Marion, Douglas, Fiona, Lindeman, Geoffrey J., Zgajnar, Janez, Tischkowitz, Marc, Clowes, Virginia E., Susman, Rachel, Ramon y Cajal, Teresa, Patcher, Nicholas, Gadea, Neus, Spigelman, Allan, van Os, Theo, Liljegren, Annelie, Side, Lucy, Brewer, Carole, Brady, Angela F., Donaldson, Alan, Stefansdottir, Vigdis, Friedman, Eitan, Chen-Shtoyerman, Rakefet, Amor, David J., Copakova, Lucia, Barwell, Julian, Giri, Veda N., Murthy, Vedang, Nicolai, Nicola, Teo, Soo-Hwang, Greenhalgh, Lynn, Strom, Sara, Henderson, Alex, McGrath, John, Gallagher, David, Aaronson, Neil, Ardern-Jones, Audrey, Bangma, Chris, Dearnaley, David, Costello, Philandra, Eyfjord, Jorunn, Rothwell, Jeanette, Falconer, Alison, Gronberg, Henrik, Hamdy, Freddie C., Johannsson, Oskar, Khoo, Vincent, Kote-Jarai, Zsofia, Lubinski, Jan, Axcrona, Ulrika, Melia, Jane, McKinley, Joanne, Mitra, Anita V., Moynihan, Clare, Rennert, Gad, Suri, Mohnish, Wilson, Penny, Killick, Emma, Moss, Sue, Eeles, Rosalind A., Taylor, Natalie, Pope, Jenny, Saya, Sibel, Martin, Sue, Keating, Diana, Petelin, Lara, Murphy, Morgan, Doherty, Rebecca, Pratt, Sarah, Murphy, Declan, Cleeve, Laurence, Miller, Cathy, Stapleton, Alan, Chong, Michael, Suthers, Graeme, Tucker, Katherine, Andrews, Lesley, Duffy, Jessica, Millard, Richard, Ward, Robyn, Williams, Rachel, Stricker, Phillip, Bowman, Michelle, Patel, Manish, O'Connell, Shona, Hunt, Clare, Smyth, Courtney, Frydenberg, Mark, Shackleton, Kylie, McGaughran, Julie, Boon, Melanie, Pachter, Nicholas, Townshend, Sharron, Schofield, Lyn, Gleeson, Margaret, Scott, Rodney, Burke, Jo, Patterson, Briony, Bacic, Sonya, Swindle, Peter, Aprikian, Armen, Bojeson, Anders, Cruger, Dorthe, Osther, Palle, Gerdes, Anne-Marie, Rhiem, Kerstin, Luedtke-Heckenkamp, Kerstin, Ochsendorf, Nicole, Fiddike, Kerstin, Sarin, Rajiv, Awatagiri, Kasturi, Ghonge, Sujata, Kowtal, Pradnya, Mulgund, Gouri, Bambury, Richard, Farrell, Michael, Gallagher, Fergal, Ben-Yehoshua, Sagi Josefsberg, Nissani, Rachel, Appelman, Zvi, Moriel, Evyatar, Radice, Paolo, Valdagni, Riccardo, Magnani, Tiziana, Meng, Tan Hui, Yoon, Sook-Yee, Thong, Meow Keong, Kiemeney, Bart, Van der Luijt, Rob B., Moller, Pal, Brennhovd, Bjorn, Medvik, Heidi, Hanslien, Eldbjorg, Peixoto, Ana, Henrique, Rui, Oliveira, Jorge, Goncalves, Nuno, Araujo, Luis, Seixas, Manuela, Souto Joao, Paulo, Nogueira, Pedro, Krajc, Mateja, Vrecar, Alenka, Capella, Gabriel, Fisas, David, Balmana, Judith, Morote, Juan, Hjalm-Eriksson, Marie, Ekdahl, Karl-Johan, Carlsson, Stefan, Hanson, Helen, Shanley, Susan, Goh, Chee, Wiggins, Jennifer, Kohut, Kelly, Van As, Nicholas, Thompson, Alan, Ogden, Chris, Borley, Nigel, Woodhouse, Christopher, Kumar, Pardeep, Mercer, Catherine, Paterson, Joan, Taylor, Amy, Newcombe, Barbara, Halliday, Dorothy, Stayner, Barbara, Fleming-Brown, D., Brice, Glen, Homfray, Tessa, Hammond, Carrie, Potter, Alison, Renton, Caroline, Searle, Anne, Hill, Kathryn, Goodman, Selina, Garcia, Lynda, Devlin, Gemma, Everest, Sarah, Nadolski, Maria, Jobson, Irene, Paez, Edgar, Tomkins, Sue, Pichert, Gabriella, Jacobs, Chris, Langman, Caroline, Weston, Michelle, Dorkins, Huw, Melville, Athalie, Kosicka-Slawinska, Monika, Cummings, Carole, Kiesel, Vicki, Bartlett, Marion, Randhawa, Kashmir, Ellery, Natalie, Male, Alison, Simon, Kate, Rees, Katie, Compton, Cecilia, Tidey, Lizzie, Nevitt, Louise, Ingram, Stuart, Catto, James, Howson, Joanne, Chapman, Cyril, Cole, Trevor, Heaton, Tricia, Burgess, Lucy, Longmuir, Mark, Watt, Cathy, Duncan, Alexis, Kockelbergh, Roger, Sattar, Ayisha, Kaemba, Beckie, Sidat, Zahirah, Patel, Nafisa, Siguake, Kas, Birt, Angela, Poultney, Una, Umez-Eronini, Nkem, Mom, Jaswant, Roberts, Gillian, Woodward, Anthony, Sutton, Vivienne, Cornford, Philip, Treherne, Katy, Griffiths, Julie, Cogley, Lyn, Rubinstein, Wendy, Brendler, Charles, Helfand, Brian, McGuire, Michael, Kaul, Karen, Shevrin, Daniel, Weissman, Scott, Newlin, Anna, Vogel, Kristen, Weiss, Shelly, Goldgar, David, Venne, Vickie, Stephenson, Robert, Dechet, Christopher, Arun, Banu, Davis, John W., Yamamura, Yuko, Gross, Laura, Bancroft, Elizabeth K., Page, Elizabeth C., Castro, Elena, Lilja, Hans, Vickers, Andrew, Sjoberg, Daniel, Assel, Melissa, Foster, Christopher S., Mitchell, Gillian, Drew, Kate, Maehle, Lovise, Axcrona, Karol, Evans, D. Gareth, Bulman, Barbara, Eccles, Diana, McBride, Donna, van Asperen, Christi, Vasen, Hans, Kiemeney, Lambertus A., Ringelberg, Janneke, Cybulski, Cezary, Wokolorczyk, Dominika, Selkirk, Christina, Hulick, Peter J., Bojesen, Anders, Skytte, Anne-Bine, Lam, Jimmy, Taylor, Louise, Oldenburg, Rogier, Cremers, Ruben, Verhaegh, Gerald, van Zelst-Stams, Wendy A., Oosterwijk, Jan C., Blanco, Ignacio, Salinas, Monica, Cook, Jackie, Rosario, Derek J., Buys, Saundra, Conner, Tom, Ausems, Margreet G., Ong, Kai-ren, Hoffman, Jonathan, Domchek, Susan, Powers, Jacquelyn, Teixeira, Manuel R., Maia, Sofia, Foulkes, William D., Taherian, Nassim, Ruijs, Marielle, Helderman-van den Enden, Apollonia T., Izatt, Louise, Davidson, Rosemarie, Adank, Muriel A., Walker, Lisa, Schmutzler, Rita, Tucker, Kathy, Kirk, Judy, Hodgson, Shirley, Harris, Marion, Douglas, Fiona, Lindeman, Geoffrey J., Zgajnar, Janez, Tischkowitz, Marc, Clowes, Virginia E., Susman, Rachel, Ramon y Cajal, Teresa, Patcher, Nicholas, Gadea, Neus, Spigelman, Allan, van Os, Theo, Liljegren, Annelie, Side, Lucy, Brewer, Carole, Brady, Angela F., Donaldson, Alan, Stefansdottir, Vigdis, Friedman, Eitan, Chen-Shtoyerman, Rakefet, Amor, David J., Copakova, Lucia, Barwell, Julian, Giri, Veda N., Murthy, Vedang, Nicolai, Nicola, Teo, Soo-Hwang, Greenhalgh, Lynn, Strom, Sara, Henderson, Alex, McGrath, John, Gallagher, David, Aaronson, Neil, Ardern-Jones, Audrey, Bangma, Chris, Dearnaley, David, Costello, Philandra, Eyfjord, Jorunn, Rothwell, Jeanette, Falconer, Alison, Gronberg, Henrik, Hamdy, Freddie C., Johannsson, Oskar, Khoo, Vincent, Kote-Jarai, Zsofia, Lubinski, Jan, Axcrona, Ulrika, Melia, Jane, McKinley, Joanne, Mitra, Anita V., Moynihan, Clare, Rennert, Gad, Suri, Mohnish, Wilson, Penny, Killick, Emma, Moss, Sue, Eeles, Rosalind A., Taylor, Natalie, Pope, Jenny, Saya, Sibel, Martin, Sue, Keating, Diana, Petelin, Lara, Murphy, Morgan, Doherty, Rebecca, Pratt, Sarah, Murphy, Declan, Cleeve, Laurence, Miller, Cathy, Stapleton, Alan, Chong, Michael, Suthers, Graeme, Tucker, Katherine, Andrews, Lesley, Duffy, Jessica, Millard, Richard, Ward, Robyn, Williams, Rachel, Stricker, Phillip, Bowman, Michelle, Patel, Manish, O'Connell, Shona, Hunt, Clare, Smyth, Courtney, Frydenberg, Mark, Shackleton, Kylie, McGaughran, Julie, Boon, Melanie, Pachter, Nicholas, Townshend, Sharron, Schofield, Lyn, Gleeson, Margaret, Scott, Rodney, Burke, Jo, Patterson, Briony, Bacic, Sonya, Swindle, Peter, Aprikian, Armen, Bojeson, Anders, Cruger, Dorthe, Osther, Palle, Gerdes, Anne-Marie, Rhiem, Kerstin, Luedtke-Heckenkamp, Kerstin, Ochsendorf, Nicole, Fiddike, Kerstin, Sarin, Rajiv, Awatagiri, Kasturi, Ghonge, Sujata, Kowtal, Pradnya, Mulgund, Gouri, Bambury, Richard, Farrell, Michael, Gallagher, Fergal, Ben-Yehoshua, Sagi Josefsberg, Nissani, Rachel, Appelman, Zvi, Moriel, Evyatar, Radice, Paolo, Valdagni, Riccardo, Magnani, Tiziana, Meng, Tan Hui, Yoon, Sook-Yee, Thong, Meow Keong, Kiemeney, Bart, Van der Luijt, Rob B., Moller, Pal, Brennhovd, Bjorn, Medvik, Heidi, Hanslien, Eldbjorg, Peixoto, Ana, Henrique, Rui, Oliveira, Jorge, Goncalves, Nuno, Araujo, Luis, Seixas, Manuela, Souto Joao, Paulo, Nogueira, Pedro, Krajc, Mateja, Vrecar, Alenka, Capella, Gabriel, Fisas, David, Balmana, Judith, Morote, Juan, Hjalm-Eriksson, Marie, Ekdahl, Karl-Johan, Carlsson, Stefan, Hanson, Helen, Shanley, Susan, Goh, Chee, Wiggins, Jennifer, Kohut, Kelly, Van As, Nicholas, Thompson, Alan, Ogden, Chris, Borley, Nigel, Woodhouse, Christopher, Kumar, Pardeep, Mercer, Catherine, Paterson, Joan, Taylor, Amy, Newcombe, Barbara, Halliday, Dorothy, Stayner, Barbara, Fleming-Brown, D., Brice, Glen, Homfray, Tessa, Hammond, Carrie, Potter, Alison, Renton, Caroline, Searle, Anne, Hill, Kathryn, Goodman, Selina, Garcia, Lynda, Devlin, Gemma, Everest, Sarah, Nadolski, Maria, Jobson, Irene, Paez, Edgar, Tomkins, Sue, Pichert, Gabriella, Jacobs, Chris, Langman, Caroline, Weston, Michelle, Dorkins, Huw, Melville, Athalie, Kosicka-Slawinska, Monika, Cummings, Carole, Kiesel, Vicki, Bartlett, Marion, Randhawa, Kashmir, Ellery, Natalie, Male, Alison, Simon, Kate, Rees, Katie, Compton, Cecilia, Tidey, Lizzie, Nevitt, Louise, Ingram, Stuart, Catto, James, Howson, Joanne, Chapman, Cyril, Cole, Trevor, Heaton, Tricia, Burgess, Lucy, Longmuir, Mark, Watt, Cathy, Duncan, Alexis, Kockelbergh, Roger, Sattar, Ayisha, Kaemba, Beckie, Sidat, Zahirah, Patel, Nafisa, Siguake, Kas, Birt, Angela, Poultney, Una, Umez-Eronini, Nkem, Mom, Jaswant, Roberts, Gillian, Woodward, Anthony, Sutton, Vivienne, Cornford, Philip, Treherne, Katy, Griffiths, Julie, Cogley, Lyn, Rubinstein, Wendy, Brendler, Charles, Helfand, Brian, McGuire, Michael, Kaul, Karen, Shevrin, Daniel, Weissman, Scott, Newlin, Anna, Vogel, Kristen, Weiss, Shelly, Goldgar, David, Venne, Vickie, Stephenson, Robert, Dechet, Christopher, Arun, Banu, Davis, John W., Yamamura, Yuko, and Gross, Laura
Abstract: Background: Men with germline breast cancer 1, early onset (BRCA1) or breast cancer 2, early onset (BRCA2) gene mutations have a higher risk of developing prostate cancer (PCa) than noncarriers. IMPACT (Identification of Men with a genetic predisposition to ProstAte Cancer: Targeted screening in BRCA1/2 mutation carriers and controls) is an international consortium of 62 centres in 20 countries evaluating the use of targeted PCa screening in men with BRCA1/2 mutations. Objective: To report the first year's screening results for all men at enrolment in the study. Design, setting and participants: We recruited men aged 40-69 yr with germline BRCA1/2 mutations and a control group of men who have tested negative for a pathogenic BRCA1 or BRCA2 mutation known to be present in their families. All men underwent prostate-specific antigen (PSA) testing at enrolment, and those men with PSA > 3 ng/ml were offered prostate biopsy. Outcome measurements and statistical analysis: PSA levels, PCa incidence, and tumour characteristics were evaluated. The Fisher exact test was used to compare the number of PCa cases among groups and the differences among disease types. Results and limitations: We recruited 2481 men (791 BRCA1 carriers, 531 BRCA1 controls; 731 BRCA2 carriers, 428 BRCA2 controls). A total of 199 men (8%) presented with PSA > 3.0 ng/ml, 162 biopsies were performed, and 59 PCas were diagnosed (18 BRCA1 carriers, 10 BRCA1 controls; 24 BRCA2 carriers, 7 BRCA2 controls); 66% of the tumours were classified as intermediate-or high-risk disease. The positive predictive value (PPV) for biopsy using a PSA threshold of 3.0 ng/ml in BRCA2 mutation carriers was 48%-double the PPV reported in population screening studies. A significant difference in detecting intermediate-or high-risk disease was observed in BRCA2 carriers. Ninety-five percent of the men were white, thus the results cannot be generalised to all ethnic groups. Conclusions: The IMPACT screening network will be useful
Published: 2014

9. Targeted Prostate Cancer Screening in BRCA1 and BRCA2 Mutation Carriers: Results from the Initial Screening Round of the IMPACT Study

Author: Bancroft, Elizabeth K., Page, Elizabeth C., Castro, Elena, Lilja, Hans, Vickers, Andrew, Sjoberg, Daniel, Assel, Melissa, Foster, Christopher S., Mitchell, Gillian, Drew, Kate, Maehle, Lovise, Axcrona, Karol, Evans, D. Gareth, Bulman, Barbara, Eccles, Diana, McBride, Donna, van Asperen, Christi, Vasen, Hans, Kiemeney, Lambertus A., Ringelberg, Janneke, Cybulski, Cezary, Wokolorczyk, Dominika, Selkirk, Christina, Hulick, Peter J., Bojesen, Anders, Skytte, Anne-Bine, Lam, Jimmy, Taylor, Louise, Oldenburg, Rogier, Cremers, Ruben, Verhaegh, Gerald, van Zelst-Stams, Wendy A., Oosterwijk, Jan C., Blanco, Ignacio, Salinas, Monica, Cook, Jackie, Rosario, Derek J., Buys, Saundra, Conner, Tom, Ausems, Margreet G., Ong, Kai-ren, Hoffman, Jonathan, Domchek, Susan, Powers, Jacquelyn, Teixeira, Manuel R., Maia, Sofia, Foulkes, William D., Taherian, Nassim, Ruijs, Marielle, Helderman-van den Enden, Apollonia T., Izatt, Louise, Davidson, Rosemarie, Adank, Muriel A., Walker, Lisa, Schmutzler, Rita, Tucker, Kathy, Kirk, Judy, Hodgson, Shirley, Harris, Marion, Douglas, Fiona, Lindeman, Geoffrey J., Zgajnar, Janez, Tischkowitz, Marc, Clowes, Virginia E., Susman, Rachel, Ramon y Cajal, Teresa, Patcher, Nicholas, Gadea, Neus, Spigelman, Allan, van Os, Theo, Liljegren, Annelie, Side, Lucy, Brewer, Carole, Brady, Angela F., Donaldson, Alan, Stefansdottir, Vigdis, Friedman, Eitan, Chen-Shtoyerman, Rakefet, Amor, David J., Copakova, Lucia, Barwell, Julian, Giri, Veda N., Murthy, Vedang, Nicolai, Nicola, Teo, Soo-Hwang, Greenhalgh, Lynn, Strom, Sara, Henderson, Alex, McGrath, John, Gallagher, David, Aaronson, Neil, Ardern-Jones, Audrey, Bangma, Chris, Dearnaley, David, Costello, Philandra, Eyfjord, Jorunn, Rothwell, Jeanette, Falconer, Alison, Gronberg, Henrik, Hamdy, Freddie C., Johannsson, Oskar, Khoo, Vincent, Kote-Jarai, Zsofia, Lubinski, Jan, Axcrona, Ulrika, Melia, Jane, McKinley, Joanne, Mitra, Anita V., Moynihan, Clare, Rennert, Gad, Suri, Mohnish, Wilson, Penny, Killick, Emma, Moss, Sue, Eeles, Rosalind A., Taylor, Natalie, Pope, Jenny, Saya, Sibel, Martin, Sue, Keating, Diana, Petelin, Lara, Murphy, Morgan, Doherty, Rebecca, Pratt, Sarah, Murphy, Declan, Cleeve, Laurence, Miller, Cathy, Stapleton, Alan, Chong, Michael, Suthers, Graeme, Tucker, Katherine, Andrews, Lesley, Duffy, Jessica, Millard, Richard, Ward, Robyn, Williams, Rachel, Stricker, Phillip, Bowman, Michelle, Patel, Manish, O'Connell, Shona, Hunt, Clare, Smyth, Courtney, Frydenberg, Mark, Shackleton, Kylie, McGaughran, Julie, Boon, Melanie, Pachter, Nicholas, Townshend, Sharron, Schofield, Lyn, Gleeson, Margaret, Scott, Rodney, Burke, Jo, Patterson, Briony, Bacic, Sonya, Swindle, Peter, Aprikian, Armen, Bojeson, Anders, Cruger, Dorthe, Osther, Palle, Gerdes, Anne-Marie, Rhiem, Kerstin, Luedtke-Heckenkamp, Kerstin, Ochsendorf, Nicole, Fiddike, Kerstin, Sarin, Rajiv, Awatagiri, Kasturi, Ghonge, Sujata, Kowtal, Pradnya, Mulgund, Gouri, Bambury, Richard, Farrell, Michael, Gallagher, Fergal, Ben-Yehoshua, Sagi Josefsberg, Nissani, Rachel, Appelman, Zvi, Moriel, Evyatar, Radice, Paolo, Valdagni, Riccardo, Magnani, Tiziana, Meng, Tan Hui, Yoon, Sook-Yee, Thong, Meow Keong, Kiemeney, Bart, Van der Luijt, Rob B., Moller, Pal, Brennhovd, Bjorn, Medvik, Heidi, Hanslien, Eldbjorg, Peixoto, Ana, Henrique, Rui, Oliveira, Jorge, Goncalves, Nuno, Araujo, Luis, Seixas, Manuela, Souto Joao, Paulo, Nogueira, Pedro, Krajc, Mateja, Vrecar, Alenka, Capella, Gabriel, Fisas, David, Balmana, Judith, Morote, Juan, Hjalm-Eriksson, Marie, Ekdahl, Karl-Johan, Carlsson, Stefan, Hanson, Helen, Shanley, Susan, Goh, Chee, Wiggins, Jennifer, Kohut, Kelly, Van As, Nicholas, Thompson, Alan, Ogden, Chris, Borley, Nigel, Woodhouse, Christopher, Kumar, Pardeep, Mercer, Catherine, Paterson, Joan, Taylor, Amy, Newcombe, Barbara, Halliday, Dorothy, Stayner, Barbara, Fleming-Brown, D., Brice, Glen, Homfray, Tessa, Hammond, Carrie, Potter, Alison, Renton, Caroline, Searle, Anne, Hill, Kathryn, Goodman, Selina, Garcia, Lynda, Devlin, Gemma, Everest, Sarah, Nadolski, Maria, Jobson, Irene, Paez, Edgar, Tomkins, Sue, Pichert, Gabriella, Jacobs, Chris, Langman, Caroline, Weston, Michelle, Dorkins, Huw, Melville, Athalie, Kosicka-Slawinska, Monika, Cummings, Carole, Kiesel, Vicki, Bartlett, Marion, Randhawa, Kashmir, Ellery, Natalie, Male, Alison, Simon, Kate, Rees, Katie, Compton, Cecilia, Tidey, Lizzie, Nevitt, Louise, Ingram, Stuart, Catto, James, Howson, Joanne, Chapman, Cyril, Cole, Trevor, Heaton, Tricia, Burgess, Lucy, Longmuir, Mark, Watt, Cathy, Duncan, Alexis, Kockelbergh, Roger, Sattar, Ayisha, Kaemba, Beckie, Sidat, Zahirah, Patel, Nafisa, Siguake, Kas, Birt, Angela, Poultney, Una, Umez-Eronini, Nkem, Mom, Jaswant, Roberts, Gillian, Woodward, Anthony, Sutton, Vivienne, Cornford, Philip, Treherne, Katy, Griffiths, Julie, Cogley, Lyn, Rubinstein, Wendy, Brendler, Charles, Helfand, Brian, McGuire, Michael, Kaul, Karen, Shevrin, Daniel, Weissman, Scott, Newlin, Anna, Vogel, Kristen, Weiss, Shelly, Goldgar, David, Venne, Vickie, Stephenson, Robert, Dechet, Christopher, Arun, Banu, Davis, John W., Yamamura, Yuko, Gross, Laura, Bancroft, Elizabeth K., Page, Elizabeth C., Castro, Elena, Lilja, Hans, Vickers, Andrew, Sjoberg, Daniel, Assel, Melissa, Foster, Christopher S., Mitchell, Gillian, Drew, Kate, Maehle, Lovise, Axcrona, Karol, Evans, D. Gareth, Bulman, Barbara, Eccles, Diana, McBride, Donna, van Asperen, Christi, Vasen, Hans, Kiemeney, Lambertus A., Ringelberg, Janneke, Cybulski, Cezary, Wokolorczyk, Dominika, Selkirk, Christina, Hulick, Peter J., Bojesen, Anders, Skytte, Anne-Bine, Lam, Jimmy, Taylor, Louise, Oldenburg, Rogier, Cremers, Ruben, Verhaegh, Gerald, van Zelst-Stams, Wendy A., Oosterwijk, Jan C., Blanco, Ignacio, Salinas, Monica, Cook, Jackie, Rosario, Derek J., Buys, Saundra, Conner, Tom, Ausems, Margreet G., Ong, Kai-ren, Hoffman, Jonathan, Domchek, Susan, Powers, Jacquelyn, Teixeira, Manuel R., Maia, Sofia, Foulkes, William D., Taherian, Nassim, Ruijs, Marielle, Helderman-van den Enden, Apollonia T., Izatt, Louise, Davidson, Rosemarie, Adank, Muriel A., Walker, Lisa, Schmutzler, Rita, Tucker, Kathy, Kirk, Judy, Hodgson, Shirley, Harris, Marion, Douglas, Fiona, Lindeman, Geoffrey J., Zgajnar, Janez, Tischkowitz, Marc, Clowes, Virginia E., Susman, Rachel, Ramon y Cajal, Teresa, Patcher, Nicholas, Gadea, Neus, Spigelman, Allan, van Os, Theo, Liljegren, Annelie, Side, Lucy, Brewer, Carole, Brady, Angela F., Donaldson, Alan, Stefansdottir, Vigdis, Friedman, Eitan, Chen-Shtoyerman, Rakefet, Amor, David J., Copakova, Lucia, Barwell, Julian, Giri, Veda N., Murthy, Vedang, Nicolai, Nicola, Teo, Soo-Hwang, Greenhalgh, Lynn, Strom, Sara, Henderson, Alex, McGrath, John, Gallagher, David, Aaronson, Neil, Ardern-Jones, Audrey, Bangma, Chris, Dearnaley, David, Costello, Philandra, Eyfjord, Jorunn, Rothwell, Jeanette, Falconer, Alison, Gronberg, Henrik, Hamdy, Freddie C., Johannsson, Oskar, Khoo, Vincent, Kote-Jarai, Zsofia, Lubinski, Jan, Axcrona, Ulrika, Melia, Jane, McKinley, Joanne, Mitra, Anita V., Moynihan, Clare, Rennert, Gad, Suri, Mohnish, Wilson, Penny, Killick, Emma, Moss, Sue, Eeles, Rosalind A., Taylor, Natalie, Pope, Jenny, Saya, Sibel, Martin, Sue, Keating, Diana, Petelin, Lara, Murphy, Morgan, Doherty, Rebecca, Pratt, Sarah, Murphy, Declan, Cleeve, Laurence, Miller, Cathy, Stapleton, Alan, Chong, Michael, Suthers, Graeme, Tucker, Katherine, Andrews, Lesley, Duffy, Jessica, Millard, Richard, Ward, Robyn, Williams, Rachel, Stricker, Phillip, Bowman, Michelle, Patel, Manish, O'Connell, Shona, Hunt, Clare, Smyth, Courtney, Frydenberg, Mark, Shackleton, Kylie, McGaughran, Julie, Boon, Melanie, Pachter, Nicholas, Townshend, Sharron, Schofield, Lyn, Gleeson, Margaret, Scott, Rodney, Burke, Jo, Patterson, Briony, Bacic, Sonya, Swindle, Peter, Aprikian, Armen, Bojeson, Anders, Cruger, Dorthe, Osther, Palle, Gerdes, Anne-Marie, Rhiem, Kerstin, Luedtke-Heckenkamp, Kerstin, Ochsendorf, Nicole, Fiddike, Kerstin, Sarin, Rajiv, Awatagiri, Kasturi, Ghonge, Sujata, Kowtal, Pradnya, Mulgund, Gouri, Bambury, Richard, Farrell, Michael, Gallagher, Fergal, Ben-Yehoshua, Sagi Josefsberg, Nissani, Rachel, Appelman, Zvi, Moriel, Evyatar, Radice, Paolo, Valdagni, Riccardo, Magnani, Tiziana, Meng, Tan Hui, Yoon, Sook-Yee, Thong, Meow Keong, Kiemeney, Bart, Van der Luijt, Rob B., Moller, Pal, Brennhovd, Bjorn, Medvik, Heidi, Hanslien, Eldbjorg, Peixoto, Ana, Henrique, Rui, Oliveira, Jorge, Goncalves, Nuno, Araujo, Luis, Seixas, Manuela, Souto Joao, Paulo, Nogueira, Pedro, Krajc, Mateja, Vrecar, Alenka, Capella, Gabriel, Fisas, David, Balmana, Judith, Morote, Juan, Hjalm-Eriksson, Marie, Ekdahl, Karl-Johan, Carlsson, Stefan, Hanson, Helen, Shanley, Susan, Goh, Chee, Wiggins, Jennifer, Kohut, Kelly, Van As, Nicholas, Thompson, Alan, Ogden, Chris, Borley, Nigel, Woodhouse, Christopher, Kumar, Pardeep, Mercer, Catherine, Paterson, Joan, Taylor, Amy, Newcombe, Barbara, Halliday, Dorothy, Stayner, Barbara, Fleming-Brown, D., Brice, Glen, Homfray, Tessa, Hammond, Carrie, Potter, Alison, Renton, Caroline, Searle, Anne, Hill, Kathryn, Goodman, Selina, Garcia, Lynda, Devlin, Gemma, Everest, Sarah, Nadolski, Maria, Jobson, Irene, Paez, Edgar, Tomkins, Sue, Pichert, Gabriella, Jacobs, Chris, Langman, Caroline, Weston, Michelle, Dorkins, Huw, Melville, Athalie, Kosicka-Slawinska, Monika, Cummings, Carole, Kiesel, Vicki, Bartlett, Marion, Randhawa, Kashmir, Ellery, Natalie, Male, Alison, Simon, Kate, Rees, Katie, Compton, Cecilia, Tidey, Lizzie, Nevitt, Louise, Ingram, Stuart, Catto, James, Howson, Joanne, Chapman, Cyril, Cole, Trevor, Heaton, Tricia, Burgess, Lucy, Longmuir, Mark, Watt, Cathy, Duncan, Alexis, Kockelbergh, Roger, Sattar, Ayisha, Kaemba, Beckie, Sidat, Zahirah, Patel, Nafisa, Siguake, Kas, Birt, Angela, Poultney, Una, Umez-Eronini, Nkem, Mom, Jaswant, Roberts, Gillian, Woodward, Anthony, Sutton, Vivienne, Cornford, Philip, Treherne, Katy, Griffiths, Julie, Cogley, Lyn, Rubinstein, Wendy, Brendler, Charles, Helfand, Brian, McGuire, Michael, Kaul, Karen, Shevrin, Daniel, Weissman, Scott, Newlin, Anna, Vogel, Kristen, Weiss, Shelly, Goldgar, David, Venne, Vickie, Stephenson, Robert, Dechet, Christopher, Arun, Banu, Davis, John W., Yamamura, Yuko, and Gross, Laura
Abstract: Background: Men with germline breast cancer 1, early onset (BRCA1) or breast cancer 2, early onset (BRCA2) gene mutations have a higher risk of developing prostate cancer (PCa) than noncarriers. IMPACT (Identification of Men with a genetic predisposition to ProstAte Cancer: Targeted screening in BRCA1/2 mutation carriers and controls) is an international consortium of 62 centres in 20 countries evaluating the use of targeted PCa screening in men with BRCA1/2 mutations. Objective: To report the first year's screening results for all men at enrolment in the study. Design, setting and participants: We recruited men aged 40-69 yr with germline BRCA1/2 mutations and a control group of men who have tested negative for a pathogenic BRCA1 or BRCA2 mutation known to be present in their families. All men underwent prostate-specific antigen (PSA) testing at enrolment, and those men with PSA > 3 ng/ml were offered prostate biopsy. Outcome measurements and statistical analysis: PSA levels, PCa incidence, and tumour characteristics were evaluated. The Fisher exact test was used to compare the number of PCa cases among groups and the differences among disease types. Results and limitations: We recruited 2481 men (791 BRCA1 carriers, 531 BRCA1 controls; 731 BRCA2 carriers, 428 BRCA2 controls). A total of 199 men (8%) presented with PSA > 3.0 ng/ml, 162 biopsies were performed, and 59 PCas were diagnosed (18 BRCA1 carriers, 10 BRCA1 controls; 24 BRCA2 carriers, 7 BRCA2 controls); 66% of the tumours were classified as intermediate-or high-risk disease. The positive predictive value (PPV) for biopsy using a PSA threshold of 3.0 ng/ml in BRCA2 mutation carriers was 48%-double the PPV reported in population screening studies. A significant difference in detecting intermediate-or high-risk disease was observed in BRCA2 carriers. Ninety-five percent of the men were white, thus the results cannot be generalised to all ethnic groups. Conclusions: The IMPACT screening network will be useful
Published: 2014

10. Targeted Prostate Cancer Screening in BRCA1 and BRCA2 Mutation Carriers: Results from the Initial Screening Round of the IMPACT Study

Author: Bancroft, Elizabeth K., Page, Elizabeth C., Castro, Elena, Lilja, Hans, Vickers, Andrew, Sjoberg, Daniel, Assel, Melissa, Foster, Christopher S., Mitchell, Gillian, Drew, Kate, Maehle, Lovise, Axcrona, Karol, Evans, D. Gareth, Bulman, Barbara, Eccles, Diana, McBride, Donna, van Asperen, Christi, Vasen, Hans, Kiemeney, Lambertus A., Ringelberg, Janneke, Cybulski, Cezary, Wokolorczyk, Dominika, Selkirk, Christina, Hulick, Peter J., Bojesen, Anders, Skytte, Anne-Bine, Lam, Jimmy, Taylor, Louise, Oldenburg, Rogier, Cremers, Ruben, Verhaegh, Gerald, van Zelst-Stams, Wendy A., Oosterwijk, Jan C., Blanco, Ignacio, Salinas, Monica, Cook, Jackie, Rosario, Derek J., Buys, Saundra, Conner, Tom, Ausems, Margreet G., Ong, Kai-ren, Hoffman, Jonathan, Domchek, Susan, Powers, Jacquelyn, Teixeira, Manuel R., Maia, Sofia, Foulkes, William D., Taherian, Nassim, Ruijs, Marielle, Helderman-van den Enden, Apollonia T., Izatt, Louise, Davidson, Rosemarie, Adank, Muriel A., Walker, Lisa, Schmutzler, Rita, Tucker, Kathy, Kirk, Judy, Hodgson, Shirley, Harris, Marion, Douglas, Fiona, Lindeman, Geoffrey J., Zgajnar, Janez, Tischkowitz, Marc, Clowes, Virginia E., Susman, Rachel, Ramon y Cajal, Teresa, Patcher, Nicholas, Gadea, Neus, Spigelman, Allan, van Os, Theo, Liljegren, Annelie, Side, Lucy, Brewer, Carole, Brady, Angela F., Donaldson, Alan, Stefansdottir, Vigdis, Friedman, Eitan, Chen-Shtoyerman, Rakefet, Amor, David J., Copakova, Lucia, Barwell, Julian, Giri, Veda N., Murthy, Vedang, Nicolai, Nicola, Teo, Soo-Hwang, Greenhalgh, Lynn, Strom, Sara, Henderson, Alex, McGrath, John, Gallagher, David, Aaronson, Neil, Ardern-Jones, Audrey, Bangma, Chris, Dearnaley, David, Costello, Philandra, Eyfjord, Jorunn, Rothwell, Jeanette, Falconer, Alison, Gronberg, Henrik, Hamdy, Freddie C., Johannsson, Oskar, Khoo, Vincent, Kote-Jarai, Zsofia, Lubinski, Jan, Axcrona, Ulrika, Melia, Jane, McKinley, Joanne, Mitra, Anita V., Moynihan, Clare, Rennert, Gad, Suri, Mohnish, Wilson, Penny, Killick, Emma, Moss, Sue, Eeles, Rosalind A., Taylor, Natalie, Pope, Jenny, Saya, Sibel, Martin, Sue, Keating, Diana, Petelin, Lara, Murphy, Morgan, Doherty, Rebecca, Pratt, Sarah, Murphy, Declan, Cleeve, Laurence, Miller, Cathy, Stapleton, Alan, Chong, Michael, Suthers, Graeme, Tucker, Katherine, Andrews, Lesley, Duffy, Jessica, Millard, Richard, Ward, Robyn, Williams, Rachel, Stricker, Phillip, Bowman, Michelle, Patel, Manish, O'Connell, Shona, Hunt, Clare, Smyth, Courtney, Frydenberg, Mark, Shackleton, Kylie, McGaughran, Julie, Boon, Melanie, Pachter, Nicholas, Townshend, Sharron, Schofield, Lyn, Gleeson, Margaret, Scott, Rodney, Burke, Jo, Patterson, Briony, Bacic, Sonya, Swindle, Peter, Aprikian, Armen, Bojeson, Anders, Cruger, Dorthe, Osther, Palle, Gerdes, Anne-Marie, Rhiem, Kerstin, Luedtke-Heckenkamp, Kerstin, Ochsendorf, Nicole, Fiddike, Kerstin, Sarin, Rajiv, Awatagiri, Kasturi, Ghonge, Sujata, Kowtal, Pradnya, Mulgund, Gouri, Bambury, Richard, Farrell, Michael, Gallagher, Fergal, Ben-Yehoshua, Sagi Josefsberg, Nissani, Rachel, Appelman, Zvi, Moriel, Evyatar, Radice, Paolo, Valdagni, Riccardo, Magnani, Tiziana, Meng, Tan Hui, Yoon, Sook-Yee, Thong, Meow Keong, Kiemeney, Bart, Van der Luijt, Rob B., Moller, Pal, Brennhovd, Bjorn, Medvik, Heidi, Hanslien, Eldbjorg, Peixoto, Ana, Henrique, Rui, Oliveira, Jorge, Goncalves, Nuno, Araujo, Luis, Seixas, Manuela, Souto Joao, Paulo, Nogueira, Pedro, Krajc, Mateja, Vrecar, Alenka, Capella, Gabriel, Fisas, David, Balmana, Judith, Morote, Juan, Hjalm-Eriksson, Marie, Ekdahl, Karl-Johan, Carlsson, Stefan, Hanson, Helen, Shanley, Susan, Goh, Chee, Wiggins, Jennifer, Kohut, Kelly, Van As, Nicholas, Thompson, Alan, Ogden, Chris, Borley, Nigel, Woodhouse, Christopher, Kumar, Pardeep, Mercer, Catherine, Paterson, Joan, Taylor, Amy, Newcombe, Barbara, Halliday, Dorothy, Stayner, Barbara, Fleming-Brown, D., Brice, Glen, Homfray, Tessa, Hammond, Carrie, Potter, Alison, Renton, Caroline, Searle, Anne, Hill, Kathryn, Goodman, Selina, Garcia, Lynda, Devlin, Gemma, Everest, Sarah, Nadolski, Maria, Jobson, Irene, Paez, Edgar, Tomkins, Sue, Pichert, Gabriella, Jacobs, Chris, Langman, Caroline, Weston, Michelle, Dorkins, Huw, Melville, Athalie, Kosicka-Slawinska, Monika, Cummings, Carole, Kiesel, Vicki, Bartlett, Marion, Randhawa, Kashmir, Ellery, Natalie, Male, Alison, Simon, Kate, Rees, Katie, Compton, Cecilia, Tidey, Lizzie, Nevitt, Louise, Ingram, Stuart, Catto, James, Howson, Joanne, Chapman, Cyril, Cole, Trevor, Heaton, Tricia, Burgess, Lucy, Longmuir, Mark, Watt, Cathy, Duncan, Alexis, Kockelbergh, Roger, Sattar, Ayisha, Kaemba, Beckie, Sidat, Zahirah, Patel, Nafisa, Siguake, Kas, Birt, Angela, Poultney, Una, Umez-Eronini, Nkem, Mom, Jaswant, Roberts, Gillian, Woodward, Anthony, Sutton, Vivienne, Cornford, Philip, Treherne, Katy, Griffiths, Julie, Cogley, Lyn, Rubinstein, Wendy, Brendler, Charles, Helfand, Brian, McGuire, Michael, Kaul, Karen, Shevrin, Daniel, Weissman, Scott, Newlin, Anna, Vogel, Kristen, Weiss, Shelly, Goldgar, David, Venne, Vickie, Stephenson, Robert, Dechet, Christopher, Arun, Banu, Davis, John W., Yamamura, Yuko, Gross, Laura, Bancroft, Elizabeth K., Page, Elizabeth C., Castro, Elena, Lilja, Hans, Vickers, Andrew, Sjoberg, Daniel, Assel, Melissa, Foster, Christopher S., Mitchell, Gillian, Drew, Kate, Maehle, Lovise, Axcrona, Karol, Evans, D. Gareth, Bulman, Barbara, Eccles, Diana, McBride, Donna, van Asperen, Christi, Vasen, Hans, Kiemeney, Lambertus A., Ringelberg, Janneke, Cybulski, Cezary, Wokolorczyk, Dominika, Selkirk, Christina, Hulick, Peter J., Bojesen, Anders, Skytte, Anne-Bine, Lam, Jimmy, Taylor, Louise, Oldenburg, Rogier, Cremers, Ruben, Verhaegh, Gerald, van Zelst-Stams, Wendy A., Oosterwijk, Jan C., Blanco, Ignacio, Salinas, Monica, Cook, Jackie, Rosario, Derek J., Buys, Saundra, Conner, Tom, Ausems, Margreet G., Ong, Kai-ren, Hoffman, Jonathan, Domchek, Susan, Powers, Jacquelyn, Teixeira, Manuel R., Maia, Sofia, Foulkes, William D., Taherian, Nassim, Ruijs, Marielle, Helderman-van den Enden, Apollonia T., Izatt, Louise, Davidson, Rosemarie, Adank, Muriel A., Walker, Lisa, Schmutzler, Rita, Tucker, Kathy, Kirk, Judy, Hodgson, Shirley, Harris, Marion, Douglas, Fiona, Lindeman, Geoffrey J., Zgajnar, Janez, Tischkowitz, Marc, Clowes, Virginia E., Susman, Rachel, Ramon y Cajal, Teresa, Patcher, Nicholas, Gadea, Neus, Spigelman, Allan, van Os, Theo, Liljegren, Annelie, Side, Lucy, Brewer, Carole, Brady, Angela F., Donaldson, Alan, Stefansdottir, Vigdis, Friedman, Eitan, Chen-Shtoyerman, Rakefet, Amor, David J., Copakova, Lucia, Barwell, Julian, Giri, Veda N., Murthy, Vedang, Nicolai, Nicola, Teo, Soo-Hwang, Greenhalgh, Lynn, Strom, Sara, Henderson, Alex, McGrath, John, Gallagher, David, Aaronson, Neil, Ardern-Jones, Audrey, Bangma, Chris, Dearnaley, David, Costello, Philandra, Eyfjord, Jorunn, Rothwell, Jeanette, Falconer, Alison, Gronberg, Henrik, Hamdy, Freddie C., Johannsson, Oskar, Khoo, Vincent, Kote-Jarai, Zsofia, Lubinski, Jan, Axcrona, Ulrika, Melia, Jane, McKinley, Joanne, Mitra, Anita V., Moynihan, Clare, Rennert, Gad, Suri, Mohnish, Wilson, Penny, Killick, Emma, Moss, Sue, Eeles, Rosalind A., Taylor, Natalie, Pope, Jenny, Saya, Sibel, Martin, Sue, Keating, Diana, Petelin, Lara, Murphy, Morgan, Doherty, Rebecca, Pratt, Sarah, Murphy, Declan, Cleeve, Laurence, Miller, Cathy, Stapleton, Alan, Chong, Michael, Suthers, Graeme, Tucker, Katherine, Andrews, Lesley, Duffy, Jessica, Millard, Richard, Ward, Robyn, Williams, Rachel, Stricker, Phillip, Bowman, Michelle, Patel, Manish, O'Connell, Shona, Hunt, Clare, Smyth, Courtney, Frydenberg, Mark, Shackleton, Kylie, McGaughran, Julie, Boon, Melanie, Pachter, Nicholas, Townshend, Sharron, Schofield, Lyn, Gleeson, Margaret, Scott, Rodney, Burke, Jo, Patterson, Briony, Bacic, Sonya, Swindle, Peter, Aprikian, Armen, Bojeson, Anders, Cruger, Dorthe, Osther, Palle, Gerdes, Anne-Marie, Rhiem, Kerstin, Luedtke-Heckenkamp, Kerstin, Ochsendorf, Nicole, Fiddike, Kerstin, Sarin, Rajiv, Awatagiri, Kasturi, Ghonge, Sujata, Kowtal, Pradnya, Mulgund, Gouri, Bambury, Richard, Farrell, Michael, Gallagher, Fergal, Ben-Yehoshua, Sagi Josefsberg, Nissani, Rachel, Appelman, Zvi, Moriel, Evyatar, Radice, Paolo, Valdagni, Riccardo, Magnani, Tiziana, Meng, Tan Hui, Yoon, Sook-Yee, Thong, Meow Keong, Kiemeney, Bart, Van der Luijt, Rob B., Moller, Pal, Brennhovd, Bjorn, Medvik, Heidi, Hanslien, Eldbjorg, Peixoto, Ana, Henrique, Rui, Oliveira, Jorge, Goncalves, Nuno, Araujo, Luis, Seixas, Manuela, Souto Joao, Paulo, Nogueira, Pedro, Krajc, Mateja, Vrecar, Alenka, Capella, Gabriel, Fisas, David, Balmana, Judith, Morote, Juan, Hjalm-Eriksson, Marie, Ekdahl, Karl-Johan, Carlsson, Stefan, Hanson, Helen, Shanley, Susan, Goh, Chee, Wiggins, Jennifer, Kohut, Kelly, Van As, Nicholas, Thompson, Alan, Ogden, Chris, Borley, Nigel, Woodhouse, Christopher, Kumar, Pardeep, Mercer, Catherine, Paterson, Joan, Taylor, Amy, Newcombe, Barbara, Halliday, Dorothy, Stayner, Barbara, Fleming-Brown, D., Brice, Glen, Homfray, Tessa, Hammond, Carrie, Potter, Alison, Renton, Caroline, Searle, Anne, Hill, Kathryn, Goodman, Selina, Garcia, Lynda, Devlin, Gemma, Everest, Sarah, Nadolski, Maria, Jobson, Irene, Paez, Edgar, Tomkins, Sue, Pichert, Gabriella, Jacobs, Chris, Langman, Caroline, Weston, Michelle, Dorkins, Huw, Melville, Athalie, Kosicka-Slawinska, Monika, Cummings, Carole, Kiesel, Vicki, Bartlett, Marion, Randhawa, Kashmir, Ellery, Natalie, Male, Alison, Simon, Kate, Rees, Katie, Compton, Cecilia, Tidey, Lizzie, Nevitt, Louise, Ingram, Stuart, Catto, James, Howson, Joanne, Chapman, Cyril, Cole, Trevor, Heaton, Tricia, Burgess, Lucy, Longmuir, Mark, Watt, Cathy, Duncan, Alexis, Kockelbergh, Roger, Sattar, Ayisha, Kaemba, Beckie, Sidat, Zahirah, Patel, Nafisa, Siguake, Kas, Birt, Angela, Poultney, Una, Umez-Eronini, Nkem, Mom, Jaswant, Roberts, Gillian, Woodward, Anthony, Sutton, Vivienne, Cornford, Philip, Treherne, Katy, Griffiths, Julie, Cogley, Lyn, Rubinstein, Wendy, Brendler, Charles, Helfand, Brian, McGuire, Michael, Kaul, Karen, Shevrin, Daniel, Weissman, Scott, Newlin, Anna, Vogel, Kristen, Weiss, Shelly, Goldgar, David, Venne, Vickie, Stephenson, Robert, Dechet, Christopher, Arun, Banu, Davis, John W., Yamamura, Yuko, and Gross, Laura
Abstract: Background: Men with germline breast cancer 1, early onset (BRCA1) or breast cancer 2, early onset (BRCA2) gene mutations have a higher risk of developing prostate cancer (PCa) than noncarriers. IMPACT (Identification of Men with a genetic predisposition to ProstAte Cancer: Targeted screening in BRCA1/2 mutation carriers and controls) is an international consortium of 62 centres in 20 countries evaluating the use of targeted PCa screening in men with BRCA1/2 mutations. Objective: To report the first year's screening results for all men at enrolment in the study. Design, setting and participants: We recruited men aged 40-69 yr with germline BRCA1/2 mutations and a control group of men who have tested negative for a pathogenic BRCA1 or BRCA2 mutation known to be present in their families. All men underwent prostate-specific antigen (PSA) testing at enrolment, and those men with PSA > 3 ng/ml were offered prostate biopsy. Outcome measurements and statistical analysis: PSA levels, PCa incidence, and tumour characteristics were evaluated. The Fisher exact test was used to compare the number of PCa cases among groups and the differences among disease types. Results and limitations: We recruited 2481 men (791 BRCA1 carriers, 531 BRCA1 controls; 731 BRCA2 carriers, 428 BRCA2 controls). A total of 199 men (8%) presented with PSA > 3.0 ng/ml, 162 biopsies were performed, and 59 PCas were diagnosed (18 BRCA1 carriers, 10 BRCA1 controls; 24 BRCA2 carriers, 7 BRCA2 controls); 66% of the tumours were classified as intermediate-or high-risk disease. The positive predictive value (PPV) for biopsy using a PSA threshold of 3.0 ng/ml in BRCA2 mutation carriers was 48%-double the PPV reported in population screening studies. A significant difference in detecting intermediate-or high-risk disease was observed in BRCA2 carriers. Ninety-five percent of the men were white, thus the results cannot be generalised to all ethnic groups. Conclusions: The IMPACT screening network will be useful
Published: 2014

Catalog

Books, media, physical & digital resources

See catalog results

Searchworks

Select search scope, currently: Articles

Catalog

books, media & more in Jio Institute collections

Articles

journal articles & other e-resources

Refine your results

10 results on '"Thong, Meow-Keong"'

1. Cornelia de Lange syndrome in diverse populations.

2. Psychosocial impact of undergoing prostate cancer screening for men with BRCA1 or BRCA2 mutations

3. Cornelia de Lange syndrome in diverse populations.

4. A comparative study of patients' perceptions of genetic and genomic medicine services in California and Malaysia.

5. Cornelia de Lange syndrome in diverse populations

6. Psychosocial impact of undergoing prostate cancer screening for men with BRCA1 or BRCA2 mutations

7. Effects of sharing information on drug administration errors in pediatric wards: a pre–post intervention study

8. Targeted Prostate Cancer Screening in BRCA1 and BRCA2 Mutation Carriers: Results from the Initial Screening Round of the IMPACT Study

9. Targeted Prostate Cancer Screening in BRCA1 and BRCA2 Mutation Carriers: Results from the Initial Screening Round of the IMPACT Study

10. Targeted Prostate Cancer Screening in BRCA1 and BRCA2 Mutation Carriers: Results from the Initial Screening Round of the IMPACT Study

Catalog

Searchworks

Select search scope, currently: Articles Catalog books, media & more in Jio Institute collections Articles journal articles & other e-resources

Search

Search Constraints

Refine your results

Search Limiters

Publication Year Range

Publication Type

Database

Publisher

10 results on '"Thong, Meow-Keong"'

Search Results

Catalog

Select search scope, currently: Articles

Catalog

books, media & more in Jio Institute collections

Articles

journal articles & other e-resources