Search

Your search keyword '"Shah, Payal"' showing total 1,010 results
Start Over Author "Shah, Payal"
1,010 results on '"Shah, Payal"'

202. Abstract LB052: Cell cycle synchronization: Biomarker analysis in a phase I trial of alternating ribociclib and paclitaxel in advanced breast cancer

Author

Clark, Amy, primary, Elmi, Azadeh, additional, McAndrew, Nicholas P., additional, Wileyto, Paul, additional, Shih, Natalie, additional, Feldman, Michael, additional, Rosen, Mark, additional, Savage, Jessica, additional, Holmes, Robin, additional, Dinubile, Nancy, additional, Berger, Theresa, additional, Schubert, Erin, additional, Matthai, Alice, additional, Volpe, Melissa, additional, Shah, Payal, additional, Domchek, Susan, additional, Mankoff, David, additional, and DeMichele, Angela, additional

Published
2021
Full Text
View/download PDF

203. Abstract 112: Analytical performance of a cfDNA-based targeted methylation multi-cancer early detection test for population-scale screening

Author

Alexander, Gregory E., primary, Jung, Byoungsok, additional, Ji, Lijuan, additional, Revenkova, Ekaterina, additional, Shah, Payal, additional, Brooks, Jacqueline, additional, Carter, Jeremy, additional, Dong, Zhao, additional, Eubank, Lane, additional, Hosseini, Maryam, additional, Hou, Xinyi, additional, Kiarie, Hannah, additional, Ronaghi, Neda, additional, Ortega, Fabian E., additional, Ramaiah, Madhuvanthi, additional, Rhodes, Kate, additional, Shaknovich, Rita, additional, Shojaee, Seyedmehdi, additional, Parpart-Li, Sonya, additional, and Hunkapiller, Nathan, additional

Published
2021
Full Text
View/download PDF

211. Hypoglycemia in the Hospital and in the U.S. Population

Author

Shah, Payal

Subjects
nutritional and metabolic diseases
Abstract

Introduction: Hypoglycemia is the most common acute adverse complication of glucose lowering therapy among patients with diabetes and is associated with poor outcomes, including death. A recent study reported that the rate of hypoglycemia-related hospitalization in the United States increased by 11.7% (from 94 to 105 admissions per 100,000 person years) between 1991 and 2011 and that total annual costs increased to $1.6 billion. Despite these concerns, diabetes care quality established a decade ago has primarily focused on prevention and reducing rates of complications such as hypoglycemia. Although these efforts have been successful and the proportion of patients achieving HbA1c levels below a 7% threshold improved significantly, consequences of these changes may include increased hospital admission rates of hypoglycemia, which now exceed rates of hyperglycemia. Overall, the three studies presented provide an understanding of the risks of hypoglycemia and multifaceted interventions that reduce the rate of hypoglycemia in the hospital setting and U.S. population. Study One: Study one is a literature review of multifaceted interventions that have used an educational component to reduce the rate of hypoglycemia in inpatient settings. The literature search used a combination of search terms, which include ?inpatient hypoglycemia?, ?inpatient low glucose? ?educational prevention?, and ?educational intervention?. Fifteen articles were selected for the review. Three articles focused on the safety and efficacy of insulin order sets, three articles implemented structured insulin order sets and protocols, seven studies focused on computerized insulin order sets and alert systems and two studies focused on root cause analysis and alert systems. The review suggested a need for randomized control trials and interventions that target at-risk populations, interventions that focus on the root causes of hypoglycemia and interventions that use technological enabled education tools (i.e. mobile health). The review also found that education in combination of multifaceted intervention that have used technology have been successful in reducing the rates of hypoglycemia. Study Two: Study two is a pilot randomized control study that examined the risk factors of hypoglycemia and provided a tailored feedback intervention to address those risk factors in the hospital setting. In this RCT study, a convenient sample of diabetes patients (N=85) were recruited in Atlanta. Baseline surveys were conducted to administer survey instrument. Nine months after recruitment, electronic medical reviews were conducted to determine whether the intervention reduced the incidence of hypoglycemia. Univariate and multivariate logistic regression analysis was conducted to determine the predisposing risk factors of hypoglycemia. Logistic regression analysis was also conducted to determine whether the intervention reduced the incidence of hypoglycemia. Results indicated that insulin use and older age (60+) were significant predictors of hypoglycemia occurrence. Results also indicated that the intervention reduced the incidence nine months post recruitment (P=0.046). Ongoing clinician education regarding insulin use and dosing and educational tools and resources targeted for an older population could continue to lower the rate of hypoglycemia occurrence. Study Three: Study three is a cross-sectional analysis of data on 1,642 older adults (ò 65 years) with diabetes from the National Health and Nutrition Examination Survey (NHANES) from 2009 to 2018 who had an HbA1c measurement. The study examined glycemic control levels among older adults with diabetes mellitus by health status and to estimate the potential of overtreatment with hypoglycemia causing medications (insulin or sulfonylureas). A weighted proportion of survey participants with glycemia that was poorly, moderately or tightly controlled across health status categories was conducted. Weighted proportions of participants whose glycemia was tightly controlled and were treated with insulin or sulfonylureas was also conducted. Logistic regression analysis was conducted to assess linear trends in participants with tightly controlled glycemia, their health status and patterns of treatment during the five NHANES surveys. Results indicated that during the 10 years there were no significant changes in proportion with an HbA1c level less than 7% who had complex/intermediate or very complex/poor health (P=0.444). There were significant changes in the proportion with an HbA1c

Published
2021
Full Text
View/download PDF

215. Combination of PARP and ATR inhibitors (olaparib and ceralasertib) shows clinical activity in acquired PARP inhibitor-resistant recurrent ovarian cancer.

Author

Wethington, Stephanie L., primary, Shah, Payal D, additional, Martin, Lainie P., additional, Tanyi, Janos Laszlo, additional, Latif, Nawar A., additional, Morgan, Mark Aloysuis, additional, Torigian, Drew A., additional, Pagan, Cheyenne, additional, Rodriguez, Diego, additional, Domchek, Susan M., additional, Drapkin, Ronny, additional, Shih, Ie-Ming, additional, Smith, Simon, additional, Dean, Emma, additional, Armstrong, Deborah Kay, additional, Gaillard, Stephanie, additional, and Simpkins, Fiona, additional

Published
2021
Full Text
View/download PDF

216. Phase I experience with first in class TnMUC1 targeted chimeric antigen receptor T-cells in patients with advanced TnMUC1 positive solid tumors.

Author

Gutierrez, Rodolfo, primary, Shah, Payal D, additional, Hamid, Omid, additional, Garfall, Alfred L., additional, Posey, Avery, additional, Bishop, Michael Russell, additional, Blumenschein, George R., additional, Johnson, Melissa Lynne, additional, Lee, Sylvia, additional, Luke, Jason J., additional, Morgensztern, Daniel, additional, Fountaine, Thomas J., additional, Dryer-Minnerly, Rebecca, additional, Najmi, Saltanat, additional, Hufner, Pam, additional, and Chagin, Karen, additional

Published
2021
Full Text
View/download PDF

218. A Phase I Study of Alpelisib in Combination with Trastuzumab and LJM716 in Patients with PIK3CA-Mutated HER2-Positive Metastatic Breast Cancer

Author

Jhaveri, Komal, primary, Drago, Joshua Z., additional, Shah, Payal Deepak, additional, Wang, Rui, additional, Pareja, Fresia, additional, Ratzon, Fanni, additional, Iasonos, Alexia, additional, Patil, Sujata, additional, Rosen, Neal, additional, Fornier, Monica N., additional, Sklarin, Nancy T., additional, Chandarlapaty, Sarat, additional, and Modi, Shanu, additional

Published
2021
Full Text
View/download PDF

228. A cross‐sectional survey of dermatologists: assessing practice patterns in sexually transmitted infections.

Author

Chansky, Peter B., Shah, Payal, Gutierrez, Daniel, Kuhner, Christopher, and Zampella, John

Subjects
*SEXUALLY transmitted diseases, *SYPHILIS, *GONORRHEA, *DERMATOLOGISTS
Abstract

Of note, chlamydia and gonorrhea are now some of the most common STIs, even though dermatologists less frequently screen for these infections.[4] Of the 81 providers, 54% report always or sometimes taking a sexual history, while 46% rarely or never take a sexual history. Dear Editor, The field of dermatology has historical roots in the diagnosis and treatment of sexually transmitted infections (STIs). The results of dermatologist demographics, STIs observed in practice, and STI clinical practice patterns are shown in Tables 1 and 2. [Extracted from the article]

Published
2023
Full Text
View/download PDF

229. Autonomically-mediated decrease in microvascular blood flow due to mental stress and pain in sickle cell disease: A target for neuromodulatory interventions.

Author

Martin, Sarah, Martin, Sarah, Shah, Payal, Denton, Christopher, Zeltzer, Lonnie, Veluswamy, Saranya, Khoo, Michael, Coates, Thomas, Martin, Sarah, Martin, Sarah, Shah, Payal, Denton, Christopher, Zeltzer, Lonnie, Veluswamy, Saranya, Khoo, Michael, and Coates, Thomas

Abstract

Pain and vaso-occlusive crises (VOC) are hallmark complications of sickle cell disease (SCD) and result in significant physical and psychosocial impairment. The variability in SCD pain frequency and triggers for the transition from steady state to VOC are not well understood. This paper summarizes the harmful physiological effects of pain and emotional stressors on autonomically-mediated vascular function in individuals with SCD and the effects of a cognitive, neuromodulatory intervention (i.e. hypnosis) on microvascular blood flow. We reviewed recent studies from the authors vascular physiology laboratory that assessed microvascular responses to laboratory stressors in individuals with SCD. Results indicate that participants with SCD exhibit marked neurally mediated vascular reactivity in response to pain, pain-related fear, and mental stress. Further, pilot study results show that engagement in hypnosis may attenuate harmful microvascular responses to pain. The collective results demonstrate that autonomically-mediated vascular responses to pain and mental stress represent an important SCD intervention target. This ongoing work provides physiological justification for the inclusion of cognitive, neuromodulatory and complementary treatments in SCD disease management and may inform the development of targeted, integrative interventions that prevent the enhancement of autonomic vascular dysfunction in SCD.

Published
2020

230. Contribution of Germline Predisposition Gene Mutations to Breast Cancer Risk in African American Women.

Author

Palmer, Julie R, Palmer, Julie R, Polley, Eric C, Hu, Chunling, John, Esther M, Haiman, Christopher, Hart, Steven N, Gaudet, Mia, Pal, Tuya, Anton-Culver, Hoda, Trentham-Dietz, Amy, Bernstein, Leslie, Ambrosone, Christine B, Bandera, Elisa V, Bertrand, Kimberly A, Bethea, Traci N, Gao, Chi, Gnanaolivu, Rohan D, Huang, Hongyan, Lee, Kun Y, LeMarchand, Loic, Na, Jie, Sandler, Dale P, Shah, Payal D, Yadav, Siddhartha, Yang, William, Weitzel, Jeffrey N, Domchek, Susan M, Goldgar, David E, Nathanson, Katherine L, Kraft, Peter, Yao, Song, Couch, Fergus J, Palmer, Julie R, Palmer, Julie R, Polley, Eric C, Hu, Chunling, John, Esther M, Haiman, Christopher, Hart, Steven N, Gaudet, Mia, Pal, Tuya, Anton-Culver, Hoda, Trentham-Dietz, Amy, Bernstein, Leslie, Ambrosone, Christine B, Bandera, Elisa V, Bertrand, Kimberly A, Bethea, Traci N, Gao, Chi, Gnanaolivu, Rohan D, Huang, Hongyan, Lee, Kun Y, LeMarchand, Loic, Na, Jie, Sandler, Dale P, Shah, Payal D, Yadav, Siddhartha, Yang, William, Weitzel, Jeffrey N, Domchek, Susan M, Goldgar, David E, Nathanson, Katherine L, Kraft, Peter, Yao, Song, and Couch, Fergus J

Abstract

BackgroundThe risks of breast cancer in African American (AA) women associated with inherited mutations in breast cancer predisposition genes are not well defined. Thus, whether multigene germline hereditary cancer testing panels are applicable to this population is unknown. We assessed associations between mutations in panel-based genes and breast cancer risk in 5054 AA women with breast cancer and 4993 unaffected AA women drawn from 10 epidemiologic studies.MethodsGermline DNA samples were sequenced for mutations in 23 cancer predisposition genes using a QIAseq multiplex amplicon panel. Prevalence of mutations and odds ratios (ORs) for associations with breast cancer risk were estimated with adjustment for study design, age, and family history of breast cancer.ResultsPathogenic mutations were identified in 10.3% of women with estrogen receptor (ER)-negative breast cancer, 5.2% of women with ER-positive breast cancer, and 2.3% of unaffected women. Mutations in BRCA1, BRCA2, and PALB2 were associated with high risks of breast cancer (OR = 47.55, 95% confidence interval [CI] = 10.43 to >100; OR = 7.25, 95% CI = 4.07 to 14.12; OR = 8.54, 95% CI = 3.67 to 24.95, respectively). RAD51D mutations were associated with high risk of ER-negative disease (OR = 7.82, 95% CI = 1.61 to 57.42). Moderate risks were observed for CHEK2, ATM, ERCC3, and FANCC mutations with ER-positive cancer, and RECQL mutations with all breast cancer.ConclusionsThe study identifies genes that predispose to breast cancer in the AA population, demonstrates the validity of current breast cancer testing panels for use in AA women, and provides a basis for increased referral of AA patients for cancer genetic testing.

Published
2020

231. Association of Genomic Domains in BRCA1 and BRCA2 with Prostate Cancer Risk and Aggressiveness

Author

Patel, Vivek L., Busch, Evan L., Friebel, Tara M., Cronin, Angel, Leslie, Goska, McGuffog, Lesley, Adlard, Julian, Agata, Simona, Agnarsson, Bjarni A., Ahmed, Munaza, Aittomaki, Kristiina, Alducci, Elisa, Andrulis, Irene L., Arason, Adalgeir, Arnold, Norbert, Artioli, Grazia, Arver, Brita, Auber, Bernd, Azzollini, Jacopo, Balmana, Judith, Barkardottir, Rosa B., Barnes, Daniel R., Barroso, Alicia, Barrowdale, Daniel, Belotti, Muriel, Benitez, Javier, Bertelsen, Brigitte, Blok, Marinus J., Bodrogi, Istvan, Bonadona, Valerie, Bonanni, Bernardo, Bondavalli, Davide, Boonen, Susanne E., Borde, Julika, Borg, Ake, Bradbury, Angela R., Brady, Angela, Brewer, Carole, Brunet, Joan, Buecher, Bruno, Buys, Saundra S., Cabezas-Camarero, Santiago, Caldes, Trinidad, Caliebe, Almuth, Caligo, Maria A., Calvello, Mariarosaria, Campbell, Ian G., Carnevali, Ileana, Carrasco, Estela, Chan, Tsun L., Chu, Annie T. W., Chung, Wendy K., Claes, Kathleen B. M., Cook, Jackie, Cortesi, Laura, Couch, Fergus J., Daly, Mary B., Damante, Giuseppe, Darder, Esther, Davidson, Rosemarie, de la Hoya, Miguel, Della Puppa, Lara, Dennis, Joe, Diez, Orland, Ding, Yuan Chun, Ditsch, Nina, Domchek, Susan M., Donaldson, Alan, Dworniczak, Bernd, Easton, Douglas F., Eccles, Diana M., Eeles, Rosalind A., Ehrencrona, Hans, Ejlertsen, Bent, Engel, Christoph, Evans, D. Gareth, Faivre, Laurence, Faust, Ulrike, Feliubadalo, Lidia, Foretova, Lenka, Fostira, Florentia, Fountzilas, George, Frost, Debra, Garcia-Barberan, Vanesa, Garre, Pilar, Gauthier-Villars, Marion, Geczi, Lajos, Gehrig, Andrea, Gerdes, Anne-Marie, Gesta, Paul, Giannini, Giuseppe, Glendon, Gord, Godwin, Andrew K., Goldgar, David E., Greene, Mark H., Gutierrez-Barrera, Angelica M., Hahnen, Eric, Hamann, Ute, Hauke, Jan, Herold, Natalie, Hogervorst, Frans B. L., Honisch, Ellen, Hopper, John L., Hulick, Peter J., Izatt, Louise, Jager, Agnes, James, Paul, Janavicius, Ramunas, Jensen, Uffe Birk, Jensen, Thomas Dyrso, Johannsson, Oskar Th, John, Esther M., Joseph, Vijai, Kang, Eunyoung, Kast, Karin, Kiiski, Johanna, I, Kim, Sung-Won, Kim, Zisun, Ko, Kwang-Pil, Konstantopoulou, Irene, Kramer, Gero, Krogh, Lotte, Kruse, Torben A., Kwong, Ava, Larsen, Mirjam, Lasset, Christine, Lautrup, Charlotte, Lazaro, Conxi, Lee, Jihyoun, Lee, Jong Won, Lee, Min Hyuk, Lemke, Johannes, Lesueur, Fabienne, Liljegren, Annelie, Lindblom, Annika, Llovet, Patricia, Lopez-Fernandez, Adria, Lopez-Perolio, Irene, Lorca, Victor, Loud, Jennifer T., Ma, Edmond S. K., Mai, Phuong L., Manoukian, Siranoush, Mari, Veronique, Martin, Lynn, Matricardi, Laura, Mebirouk, Noura, Medici, Veronica, Meijers-Heijboer, Hanne E. J., Meindl, Alfons, Mensenkamp, Arjen R., Miller, Clare, Gomes, Denise Molina, Montagna, Marco, Mooij, Thea M., Moserle, Lidia, Mouret-Fourme, Emmanuelle, Mulligan, Anna Marie, Nathanson, Katherine L., Navratilova, Marie, Nevanlinna, Heli, Niederacher, Dieter, Nielsen, Finn C. Cilius, Nikitina-Zake, Liene, Offit, Kenneth, Olah, Edith, Olopade, Olufunmilayo, I, Ong, Kai-Ren, Osorio, Ana, Ott, Claus-Eric, Palli, Domenico, Park, Sue K., Parsons, Michael T., Pedersen, Inge Sokilde, Peissel, Bernard, Peixoto, Ana, Perez-Segura, Pedro, Peterlongo, Paolo, Petersen, Annabeth Hogh, Porteous, Mary E., Angel Pujana, Miguel, Radice, Paolo, Ramser, Juliane, Rantala, Johanna, Rashid, Muhammad U., Rhiem, Kerstin, Rizzolo, Piera, Robson, Mark E., Rookus, Matti A., Rossing, Caroline M., Ruddy, Kathryn J., Santos, Catarina, Saule, Claire, Scarpitta, Rosa, Schmutzler, Rita K., Schuster, Helene, Senter, Leigha, Seynaeve, Caroline M., Shah, Payal D., Sharma, Priyanka, Shin, Vivian Y., Silvestri, Valentina, Simard, Jacques, Singer, Christian F., Skytte, Anne-Bine, Snape, Katie, Solano, Angela R., Soucy, Penny, Southey, Melissa C., Spurdle, Amanda B., Steele, Linda, Steinemann, Doris, Stoppa-Lyonnet, Dominique, Stradella, Agostina, Sunde, Lone, Sutter, Christian, Tan, Yen Y., Teixeira, Manuel R., Teo, Soo Hwang, Thomassen, Mads, Tibiletti, Maria Grazia, Tischkowitz, Marc, Tognazzo, Silvia, Toland, Amanda E., Tommasi, Stefania, Torres, Diana, Toss, Angela, Trainer, Alison H., Tung, Nadine, van Asperen, Christi J., van der Baan, Frederieke H., van der Kolk, Lizet E., van der Luijt, Rob B., van Hest, Liselotte P., Varesco, Liliana, Varon-Mateeva, Raymonda, Viel, Alessandra, Vierstrate, Jeroen, Villa, Roberta, von Wachenfeldt, Anna, Wagner, Philipp, Wang-Gohrke, Shan, Wappenschmidt, Barbara, Weitzel, Jeffrey N., Wieme, Greet, Yadav, Siddhartha, Yannoukakos, Drakoulis, Yoon, Sook-Yee, Zanzottera, Cristina, Zorn, Kristin K., D'Amico, Anthony, V, Freedman, Matthew L., Pomerantz, Mark M., Chenevix-Trench, Georgia, Antoniou, Antonis C., Neuhausen, Susan L., Ottini, Laura, Nielsen, Henriette Roed, Rebbeck, Timothy R., Patel, Vivek L., Busch, Evan L., Friebel, Tara M., Cronin, Angel, Leslie, Goska, McGuffog, Lesley, Adlard, Julian, Agata, Simona, Agnarsson, Bjarni A., Ahmed, Munaza, Aittomaki, Kristiina, Alducci, Elisa, Andrulis, Irene L., Arason, Adalgeir, Arnold, Norbert, Artioli, Grazia, Arver, Brita, Auber, Bernd, Azzollini, Jacopo, Balmana, Judith, Barkardottir, Rosa B., Barnes, Daniel R., Barroso, Alicia, Barrowdale, Daniel, Belotti, Muriel, Benitez, Javier, Bertelsen, Brigitte, Blok, Marinus J., Bodrogi, Istvan, Bonadona, Valerie, Bonanni, Bernardo, Bondavalli, Davide, Boonen, Susanne E., Borde, Julika, Borg, Ake, Bradbury, Angela R., Brady, Angela, Brewer, Carole, Brunet, Joan, Buecher, Bruno, Buys, Saundra S., Cabezas-Camarero, Santiago, Caldes, Trinidad, Caliebe, Almuth, Caligo, Maria A., Calvello, Mariarosaria, Campbell, Ian G., Carnevali, Ileana, Carrasco, Estela, Chan, Tsun L., Chu, Annie T. W., Chung, Wendy K., Claes, Kathleen B. M., Cook, Jackie, Cortesi, Laura, Couch, Fergus J., Daly, Mary B., Damante, Giuseppe, Darder, Esther, Davidson, Rosemarie, de la Hoya, Miguel, Della Puppa, Lara, Dennis, Joe, Diez, Orland, Ding, Yuan Chun, Ditsch, Nina, Domchek, Susan M., Donaldson, Alan, Dworniczak, Bernd, Easton, Douglas F., Eccles, Diana M., Eeles, Rosalind A., Ehrencrona, Hans, Ejlertsen, Bent, Engel, Christoph, Evans, D. Gareth, Faivre, Laurence, Faust, Ulrike, Feliubadalo, Lidia, Foretova, Lenka, Fostira, Florentia, Fountzilas, George, Frost, Debra, Garcia-Barberan, Vanesa, Garre, Pilar, Gauthier-Villars, Marion, Geczi, Lajos, Gehrig, Andrea, Gerdes, Anne-Marie, Gesta, Paul, Giannini, Giuseppe, Glendon, Gord, Godwin, Andrew K., Goldgar, David E., Greene, Mark H., Gutierrez-Barrera, Angelica M., Hahnen, Eric, Hamann, Ute, Hauke, Jan, Herold, Natalie, Hogervorst, Frans B. L., Honisch, Ellen, Hopper, John L., Hulick, Peter J., Izatt, Louise, Jager, Agnes, James, Paul, Janavicius, Ramunas, Jensen, Uffe Birk, Jensen, Thomas Dyrso, Johannsson, Oskar Th, John, Esther M., Joseph, Vijai, Kang, Eunyoung, Kast, Karin, Kiiski, Johanna, I, Kim, Sung-Won, Kim, Zisun, Ko, Kwang-Pil, Konstantopoulou, Irene, Kramer, Gero, Krogh, Lotte, Kruse, Torben A., Kwong, Ava, Larsen, Mirjam, Lasset, Christine, Lautrup, Charlotte, Lazaro, Conxi, Lee, Jihyoun, Lee, Jong Won, Lee, Min Hyuk, Lemke, Johannes, Lesueur, Fabienne, Liljegren, Annelie, Lindblom, Annika, Llovet, Patricia, Lopez-Fernandez, Adria, Lopez-Perolio, Irene, Lorca, Victor, Loud, Jennifer T., Ma, Edmond S. K., Mai, Phuong L., Manoukian, Siranoush, Mari, Veronique, Martin, Lynn, Matricardi, Laura, Mebirouk, Noura, Medici, Veronica, Meijers-Heijboer, Hanne E. J., Meindl, Alfons, Mensenkamp, Arjen R., Miller, Clare, Gomes, Denise Molina, Montagna, Marco, Mooij, Thea M., Moserle, Lidia, Mouret-Fourme, Emmanuelle, Mulligan, Anna Marie, Nathanson, Katherine L., Navratilova, Marie, Nevanlinna, Heli, Niederacher, Dieter, Nielsen, Finn C. Cilius, Nikitina-Zake, Liene, Offit, Kenneth, Olah, Edith, Olopade, Olufunmilayo, I, Ong, Kai-Ren, Osorio, Ana, Ott, Claus-Eric, Palli, Domenico, Park, Sue K., Parsons, Michael T., Pedersen, Inge Sokilde, Peissel, Bernard, Peixoto, Ana, Perez-Segura, Pedro, Peterlongo, Paolo, Petersen, Annabeth Hogh, Porteous, Mary E., Angel Pujana, Miguel, Radice, Paolo, Ramser, Juliane, Rantala, Johanna, Rashid, Muhammad U., Rhiem, Kerstin, Rizzolo, Piera, Robson, Mark E., Rookus, Matti A., Rossing, Caroline M., Ruddy, Kathryn J., Santos, Catarina, Saule, Claire, Scarpitta, Rosa, Schmutzler, Rita K., Schuster, Helene, Senter, Leigha, Seynaeve, Caroline M., Shah, Payal D., Sharma, Priyanka, Shin, Vivian Y., Silvestri, Valentina, Simard, Jacques, Singer, Christian F., Skytte, Anne-Bine, Snape, Katie, Solano, Angela R., Soucy, Penny, Southey, Melissa C., Spurdle, Amanda B., Steele, Linda, Steinemann, Doris, Stoppa-Lyonnet, Dominique, Stradella, Agostina, Sunde, Lone, Sutter, Christian, Tan, Yen Y., Teixeira, Manuel R., Teo, Soo Hwang, Thomassen, Mads, Tibiletti, Maria Grazia, Tischkowitz, Marc, Tognazzo, Silvia, Toland, Amanda E., Tommasi, Stefania, Torres, Diana, Toss, Angela, Trainer, Alison H., Tung, Nadine, van Asperen, Christi J., van der Baan, Frederieke H., van der Kolk, Lizet E., van der Luijt, Rob B., van Hest, Liselotte P., Varesco, Liliana, Varon-Mateeva, Raymonda, Viel, Alessandra, Vierstrate, Jeroen, Villa, Roberta, von Wachenfeldt, Anna, Wagner, Philipp, Wang-Gohrke, Shan, Wappenschmidt, Barbara, Weitzel, Jeffrey N., Wieme, Greet, Yadav, Siddhartha, Yannoukakos, Drakoulis, Yoon, Sook-Yee, Zanzottera, Cristina, Zorn, Kristin K., D'Amico, Anthony, V, Freedman, Matthew L., Pomerantz, Mark M., Chenevix-Trench, Georgia, Antoniou, Antonis C., Neuhausen, Susan L., Ottini, Laura, Nielsen, Henriette Roed, and Rebbeck, Timothy R.

Abstract

Pathogenic sequence variants (PSV) in BRCA1 or BRCA2 (BRCA1/2) are associated with increased risk and severity of prostate cancer. Weevaluated whether PSVs inBRCA1/2 were associated with risk of overall prostate cancer or high grade (Gleason 8+) prostate cancer using an international sample of 65 BRCA1 and 171 BRCA2 male PSV carriers with prostate cancer, and 3,388 BRCA1 and 2,880 BRCA2 male PSV carriers without prostate cancer. PSVs in the 30 region of BRCA2 (c.7914+) were significantly associated with elevated risk of prostate cancer compared with reference bin c.1001c.7913 [HR = 1.78; 95% confidence interval (CI), 1.25-2.52; P = 0.001], as well as elevated risk of Gleason 8+ prostate cancer (HR = 3.11; 95% CI, 1.63-5.95; P = 0.001). c.756-c.1000 was also associated with elevated prostate cancer risk (HR = 2.83; 95% CI, 1.71-4.68; P = 0.00004) and elevated risk of Gleason 8+prostate cancer (HR = 4.95; 95% CI, 2.12-11.54; P = 0.0002). No genotype-phenotype associations were detected for PSVs in BRCA1. These results demonstrate that specific BRCA2 PSVs may be associated with elevated risk of developing aggressive prostate cancer. Significance: Aggressive prostate cancer risk in BRCA2 mutation carriers may vary according to the specific BRCA2 mutation inherited by the at-risk individual.

Published
2020

232. Polygenic risk scores and breast and epithelial ovarian cancer risks for carriers of BRCA1 and BRCA2 pathogenic variants

Author

Barnes, Daniel R., Rookus, Matti A., McGuffog, Lesley, Leslie, Goska, Mooij, Thea M., Dennis, Joe, Mavaddat, Nasim, Adlard, Julian, Ahmed, Munaza, Aittomaki, Kristiina, Andrieu, Nadine, Andrulis, Irene L., Arnold, Norbert, Arun, Banu K., Azzollini, Jacopo, Balmana, Judith, Barkardottir, Rosa B., Barrowdale, Daniel, Benitez, Javier, Berthet, Pascaline, Bialkowska, Katarzyna, Blanco, Amie M., Blok, Marinus J., Bonanni, Bernardo, Boonen, Susanne E., Borg, Ake, Bozsik, Aniko, Bradbury, Angela R., Brennan, Paul, Brewer, Carole, Brunet, Joan, Buys, Saundra S., Caldes, Trinidad, Caligo, Maria A., Campbell, Ian, Christensen, Lise Lotte, Chung, Wendy K., Claes, Kathleen B. M., Colas, Chrystelle, Collonge-Rame, Marie-Agnes, Cook, Jackie, Daly, Mary B., Davidson, Rosemarie, de la Hoya, Miguel, de Putter, Robin, Delnatte, Capucine, Devilee, Peter, Diez, Orland, Ding, Yuan Chun, Domchek, Susan M., Dorfling, Cecilia M., Dumont, Martine, Eeles, Ros, Ejlertsen, Bent, Engel, Christoph, Evans, D. Gareth, Faivre, Laurence, Foretova, Lenka, Fostira, Florentia, Friedlander, Michael, Friedman, Eitan, Frost, Debra, Ganz, Patricia A., Garber, Judy, Gehrig, Andrea, Gerdes, Anne-Marie, Gesta, Paul, Giraud, Sophie, Glendon, Gord, Godwin, Andrew K., Goldgar, David E., Gonzalez-Neira, Anna, Greene, Mark H., Gschwantler-Kaulich, Daphne, Hahnen, Eric, Hamann, Ute, Hanson, Helen, Hentschel, Julia, Hogervorst, Frans B. L., Hooning, Maartje J., Horvath, Judit, Hu, Chunling, Hulick, Peter J., Imyanitov, Evgeny N., Isaacs, Claudine, Izatt, Louise, Izquierdo, Angel, Jakubowska, Anna, James, Paul A., Janavicius, Ramunas, John, Esther M., Joseph, Vijai, Karlan, Beth Y., Kast, Karin, Koudijs, Marco, Kruse, Torben A., Kwong, Ava, Laitman, Yael, Lasset, Christine, Lazaro, Conxi, Lester, Jenny, Lesueur, Fabienne, Liljegren, Annelie, Loud, Jennifer T., Lubinski, Jan, Mai, Phuong L., Manoukian, Siranoush, Mari, Veronique, Mebirouk, Noura, Meijers-Heijboer, Hanne E. J., Meindl, Alfons, Mensenkamp, Arjen R., Miller, Austin, Montagna, Marco, Mouret-Fourme, Emmanuelle, Mukherjee, Semanti, Mulligan, Anna Marie, Nathanson, Katherine L., Neuhausen, Susan L., Nevanlinna, Heli, Niederacher, Dieter, Nielsen, Finn Cilius, Nikitina-Zake, Liene, Nogues, Catherine, Olah, Edith, Olopade, Olufunmilayo, I, Ong, Kai-ren, O'Shaughnessy-Kirwan, Aoife, Osorio, Ana, Ott, Claus-Eric, Papi, Laura, Park, Sue K., Parsons, Michael T., Pedersen, Inge Sokilde, Peissel, Bernard, Peixoto, Ana, Peterlongo, Paolo, Pfeiler, Georg, Phillips, Kelly-Anne, Prajzendanc, Karolina, Pujana, Miquel Angel, Radice, Paolo, Ramser, Juliane, Ramus, Susan J., Rantala, Johanna, Rennert, Gad, Risch, Harvey A., Robson, Mark, Ronlund, Karina, Salani, Ritu, Schuster, Helene, Senter, Leigha, Shah, Payal D., Sharma, Priyanka, Side, Lucy E., Singer, Christian F., Slavin, Thomas P., Soucy, Penny, Southey, Melissa C., Spurdle, Amanda B., Steinemann, Doris, Steinsnyder, Zoe, Stoppa-Lyonnet, Dominique, Sutter, Christian, Tan, Yen Yen, Teixeira, Manuel R., Teo, Soo Hwang, Thull, Darcy L., Tischkowitz, Marc, Tognazzo, Silvia, Toland, Amanda E., Trainer, Alison H., Tung, Nadine, van Engelen, Klaartje, van Rensburg, Elizabeth J., Vega, Ana, Vierstraete, Jeroen, Wagner, Gabriel, Walker, Lisa, Wang-Gohrke, Shan, Wappenschmidt, Barbara, Weitzel, Jeffrey N., Yadav, Siddhartha, Yang, Xin, Yannoukakos, Drakoulis, Zimbalatti, Dario, Offit, Kenneth, Thomassen, Mads, Couch, Fergus J., Schmutzler, Rita K., Simard, Jacques, Easton, Douglas F., Chenevix-Trench, Georgia, Antoniou, Antonis C., Barnes, Daniel R., Rookus, Matti A., McGuffog, Lesley, Leslie, Goska, Mooij, Thea M., Dennis, Joe, Mavaddat, Nasim, Adlard, Julian, Ahmed, Munaza, Aittomaki, Kristiina, Andrieu, Nadine, Andrulis, Irene L., Arnold, Norbert, Arun, Banu K., Azzollini, Jacopo, Balmana, Judith, Barkardottir, Rosa B., Barrowdale, Daniel, Benitez, Javier, Berthet, Pascaline, Bialkowska, Katarzyna, Blanco, Amie M., Blok, Marinus J., Bonanni, Bernardo, Boonen, Susanne E., Borg, Ake, Bozsik, Aniko, Bradbury, Angela R., Brennan, Paul, Brewer, Carole, Brunet, Joan, Buys, Saundra S., Caldes, Trinidad, Caligo, Maria A., Campbell, Ian, Christensen, Lise Lotte, Chung, Wendy K., Claes, Kathleen B. M., Colas, Chrystelle, Collonge-Rame, Marie-Agnes, Cook, Jackie, Daly, Mary B., Davidson, Rosemarie, de la Hoya, Miguel, de Putter, Robin, Delnatte, Capucine, Devilee, Peter, Diez, Orland, Ding, Yuan Chun, Domchek, Susan M., Dorfling, Cecilia M., Dumont, Martine, Eeles, Ros, Ejlertsen, Bent, Engel, Christoph, Evans, D. Gareth, Faivre, Laurence, Foretova, Lenka, Fostira, Florentia, Friedlander, Michael, Friedman, Eitan, Frost, Debra, Ganz, Patricia A., Garber, Judy, Gehrig, Andrea, Gerdes, Anne-Marie, Gesta, Paul, Giraud, Sophie, Glendon, Gord, Godwin, Andrew K., Goldgar, David E., Gonzalez-Neira, Anna, Greene, Mark H., Gschwantler-Kaulich, Daphne, Hahnen, Eric, Hamann, Ute, Hanson, Helen, Hentschel, Julia, Hogervorst, Frans B. L., Hooning, Maartje J., Horvath, Judit, Hu, Chunling, Hulick, Peter J., Imyanitov, Evgeny N., Isaacs, Claudine, Izatt, Louise, Izquierdo, Angel, Jakubowska, Anna, James, Paul A., Janavicius, Ramunas, John, Esther M., Joseph, Vijai, Karlan, Beth Y., Kast, Karin, Koudijs, Marco, Kruse, Torben A., Kwong, Ava, Laitman, Yael, Lasset, Christine, Lazaro, Conxi, Lester, Jenny, Lesueur, Fabienne, Liljegren, Annelie, Loud, Jennifer T., Lubinski, Jan, Mai, Phuong L., Manoukian, Siranoush, Mari, Veronique, Mebirouk, Noura, Meijers-Heijboer, Hanne E. J., Meindl, Alfons, Mensenkamp, Arjen R., Miller, Austin, Montagna, Marco, Mouret-Fourme, Emmanuelle, Mukherjee, Semanti, Mulligan, Anna Marie, Nathanson, Katherine L., Neuhausen, Susan L., Nevanlinna, Heli, Niederacher, Dieter, Nielsen, Finn Cilius, Nikitina-Zake, Liene, Nogues, Catherine, Olah, Edith, Olopade, Olufunmilayo, I, Ong, Kai-ren, O'Shaughnessy-Kirwan, Aoife, Osorio, Ana, Ott, Claus-Eric, Papi, Laura, Park, Sue K., Parsons, Michael T., Pedersen, Inge Sokilde, Peissel, Bernard, Peixoto, Ana, Peterlongo, Paolo, Pfeiler, Georg, Phillips, Kelly-Anne, Prajzendanc, Karolina, Pujana, Miquel Angel, Radice, Paolo, Ramser, Juliane, Ramus, Susan J., Rantala, Johanna, Rennert, Gad, Risch, Harvey A., Robson, Mark, Ronlund, Karina, Salani, Ritu, Schuster, Helene, Senter, Leigha, Shah, Payal D., Sharma, Priyanka, Side, Lucy E., Singer, Christian F., Slavin, Thomas P., Soucy, Penny, Southey, Melissa C., Spurdle, Amanda B., Steinemann, Doris, Steinsnyder, Zoe, Stoppa-Lyonnet, Dominique, Sutter, Christian, Tan, Yen Yen, Teixeira, Manuel R., Teo, Soo Hwang, Thull, Darcy L., Tischkowitz, Marc, Tognazzo, Silvia, Toland, Amanda E., Trainer, Alison H., Tung, Nadine, van Engelen, Klaartje, van Rensburg, Elizabeth J., Vega, Ana, Vierstraete, Jeroen, Wagner, Gabriel, Walker, Lisa, Wang-Gohrke, Shan, Wappenschmidt, Barbara, Weitzel, Jeffrey N., Yadav, Siddhartha, Yang, Xin, Yannoukakos, Drakoulis, Zimbalatti, Dario, Offit, Kenneth, Thomassen, Mads, Couch, Fergus J., Schmutzler, Rita K., Simard, Jacques, Easton, Douglas F., Chenevix-Trench, Georgia, and Antoniou, Antonis C.

Abstract

Purpose We assessed the associations between population-based polygenic risk scores (PRS) for breast (BC) or epithelial ovarian cancer (EOC) with cancer risks forBRCA1andBRCA2pathogenic variant carriers. Methods Retrospective cohort data on 18,935BRCA1and 12,339BRCA2female pathogenic variant carriers of European ancestry were available. Three versions of a 313 single-nucleotide polymorphism (SNP) BC PRS were evaluated based on whether they predict overall, estrogen receptor (ER)-negative, or ER-positive BC, and two PRS for overall or high-grade serous EOC. Associations were validated in a prospective cohort. Results The ER-negative PRS showed the strongest association with BC risk forBRCA1carriers (hazard ratio [HR] per standard deviation = 1.29 [95% CI 1.25-1.33],P = 3x10(-72)). ForBRCA2, the strongest association was with overall BC PRS (HR = 1.31 [95% CI 1.27-1.36],P = 7x10(-50)). HR estimates decreased significantly with age and there was evidence for differences in associations by predicted variant effects on protein expression. The HR estimates were smaller than general population estimates. The high-grade serous PRS yielded the strongest associations with EOC risk forBRCA1(HR = 1.32 [95% CI 1.25-1.40],P = 3x10(-22)) andBRCA2(HR = 1.44 [95% CI 1.30-1.60],P = 4x10(-12)) carriers. The associations in the prospective cohort were similar. Conclusion Population-based PRS are strongly associated with BC and EOC risks forBRCA1/2carriers and predict substantial absolute risk differences for women at PRS distribution extremes.

Published
2020

233. Association of Genomic Domains in BRCA1 and BRCA2 with Prostate Cancer Risk and Aggressiveness

Author

Patel, Vivek L, Busch, Evan L, Friebel, Tara M, Cronin, Angel, Leslie, Goska, McGuffog, Lesley, Adlard, Julian, Agata, Simona, Agnarsson, Bjarni A, Ahmed, Munaza, Aittomäki, Kristiina, Alducci, Elisa, Andrulis, Irene L, Arason, Adalgeir, Arnold, Norbert, Artioli, Grazia, Arver, Brita, Auber, Bernd, Azzollini, Jacopo, Balmaña, Judith, Barkardottir, Rosa B, Barnes, Daniel R, Barroso, Alicia, Barrowdale, Daniel, Belotti, Muriel, Benitez, Javier, Bertelsen, Birgitte, Blok, Marinus J, Bodrogi, Istvan, Bonadona, Valérie, Bonanni, Bernardo, Bondavalli, Davide, Boonen, Susanne E, Borde, Julika, Borg, Ake, Bradbury, Angela R, Brady, Angela, Brewer, Carole, Brunet, Joan, Buecher, Bruno, Buys, Saundra S, Cabezas-Camarero, Santiago, Caldés, Trinidad, Caliebe, Almuth, Caligo, Maria A, Calvello, Mariarosaria, Campbell, Ian G, Carnevali, Ileana, Carrasco, Estela, Chan, Tsun L, Chu, Annie T W, Chung, Wendy K, Claes, Kathleen B M, Collaborators, Gemo Study, Collaborators, Embrace, Cook, Jackie, Cortesi, Laura, Couch, Fergus J, Daly, Mary B, Damante, Giuseppe, Darder, Esther, Davidson, Rosemarie, de la Hoya, Miguel, Puppa, Lara Della, Dennis, Joe, Díez, Orland, Ding, Yuan Chun, Ditsch, Nina, Domchek, Susan M, Donaldson, Alan, Dworniczak, Bernd, Easton, Douglas F, Eccles, Diana M, Eeles, Rosalind A, Ehrencrona, Hans, Ejlertsen, Bent, Engel, Christoph, Evans, D Gareth, Faivre, Laurence, Faust, Ulrike, Feliubadaló, Lídia, Foretova, Lenka, Fostira, Florentia, Fountzilas, George, Frost, Debra, García-Barberán, Vanesa, Garre, Pilar, Gauthier-Villars, Marion, Géczi, Lajos, Gehrig, Andrea, Gerdes, Anne-Marie, Gesta, Paul, Giannini, Giuseppe, Glendon, Gord, Godwin, Andrew K, Goldgar, David E, Greene, Mark H, Gutierrez-Barrera, Angelica M, Hahnen, Eric, Hamann, Ute, Hauke, Jan, Herold, Natalie, Hogervorst, Frans B L, Honisch, Ellen, Hopper, John L, Hulick, Peter J, Investigators, KConFab, Investigators, Hebon, Izatt, Louise, Jager, Agnes, James, Paul, Janavicius, Ramunas, Jensen, Uffe Birk, Jensen, Thomas Dyrso, Johannsson, Oskar Th, John, Esther M, Joseph, Vijai, Kang, Eunyoung, Kast, Karin, Kiiski, Johanna I, Kim, Sung-Won, Kim, Zisun, Ko, Kwang-Pil, Konstantopoulou, Irene, Kramer, Gero, Krogh, Lotte, Kruse, Torben A, Kwong, Ava, Larsen, Mirjam, Lasset, Christine, Lautrup, Charlotte, Lazaro, Conxi, Lee, Jihyoun, Lee, Jong Won, Lee, Min Hyuk, Lemke, Johannes, Lesueur, Fabienne, Liljegren, Annelie, Lindblom, Annika, Llovet, Patricia, Lopez-Fernández, Adria, Lopez-Perolio, Irene, Lorca, Victor, Loud, Jennifer T, Ma, Edmond S K, Mai, Phuong L, Manoukian, Siranoush, Mari, Veronique, Martin, Lynn, Matricardi, Laura, Mebirouk, Noura, Medici, Veronica, Meijers-Heijboer, Hanne E J, Meindl, Alfons, Mensenkamp, Arjen R, Miller, Clare, Gomes, Denise Molina, Montagna, Marco, Mooij, Thea M, Moserle, Lidia, Mouret-Fourme, Emmanuelle, Mulligan, Anna Marie, Nathanson, Katherine L, Navratilova, Marie, Nevanlinna, Heli, Niederacher, Dieter, Nielsen, Finn C Cilius, Nikitina-Zake, Liene, Offit, Kenneth, Olah, Edith, Olopade, Olufunmilayo I, Ong, Kai-Ren, Osorio, Ana, Ott, Claus-Eric, Palli, Domenico, Park, Sue K, Parsons, Michael T, Pedersen, Inge Sokilde, Peissel, Bernard, Peixoto, Ana, Pérez-Segura, Pedro, Peterlongo, Paolo, Petersen, Annabeth Høgh, Porteous, Mary E, Pujana, Miguel Angel, Radice, Paolo, Ramser, Juliane, Rantala, Johanna, Rashid, Muhammad U, Rhiem, Kerstin, Rizzolo, Piera, Robson, Mark E, Rookus, Matti A, Rossing, Caroline M, Ruddy, Kathryn J, Santos, Catarina, Saule, Claire, Scarpitta, Rosa, Schmutzler, Rita K, Schuster, Hélène, Senter, Leigha, Seynaeve, Caroline M, Shah, Payal D, Sharma, Priyanka, Shin, Vivian Y, Silvestri, Valentina, Simard, Jacques, Singer, Christian F, Skytte, Anne-Bine, Snape, Katie, Solano, Angela R, Soucy, Penny, Southey, Melissa C, Spurdle, Amanda B, Steele, Linda, Steinemann, Doris, Stoppa-Lyonnet, Dominique, Stradella, Agostina, Sunde, Lone, Sutter, Christian, Tan, Yen Y, Teixeira, Manuel R, Teo, Soo Hwang, Thomassen, Mads, Tibiletti, Maria Grazia, Tischkowitz, Marc, Tognazzo, Silvia, Toland, Amanda E, Tommasi, Stefania, Torres, Diana, Toss, Angela, Trainer, Alison H, Tung, Nadine, van Asperen, Christi J, van der Baan, Frederieke H, van der Kolk, Lizet E, van der Luijt, Rob B, van Hest, Liselotte P, Varesco, Liliana, Varon-Mateeva, Raymonda, Viel, Alessandra, Vierstraete, Jeroen, Villa, Roberta, von Wachenfeldt, Anna, Wagner, Philipp, Wang-Gohrke, Shan, Wappenschmidt, Barbara, Weitzel, Jeffrey N, Wieme, Greet, Yadav, Siddhartha, Yannoukakos, Drakoulis, Yoon, Sook-Yee, Zanzottera, Cristina, Zorn, Kristin K, D'Amico, Anthony V, Freedman, Matthew L, Pomerantz, Mark M, Chenevix-Trench, Georgia, Antoniou, Antonis C, Neuhausen, Susan L, Ottini, Laura, Nielsen, Henriette Roed, Rebbeck, Timothy R, Patel, Vivek L, Busch, Evan L, Friebel, Tara M, Cronin, Angel, Leslie, Goska, McGuffog, Lesley, Adlard, Julian, Agata, Simona, Agnarsson, Bjarni A, Ahmed, Munaza, Aittomäki, Kristiina, Alducci, Elisa, Andrulis, Irene L, Arason, Adalgeir, Arnold, Norbert, Artioli, Grazia, Arver, Brita, Auber, Bernd, Azzollini, Jacopo, Balmaña, Judith, Barkardottir, Rosa B, Barnes, Daniel R, Barroso, Alicia, Barrowdale, Daniel, Belotti, Muriel, Benitez, Javier, Bertelsen, Birgitte, Blok, Marinus J, Bodrogi, Istvan, Bonadona, Valérie, Bonanni, Bernardo, Bondavalli, Davide, Boonen, Susanne E, Borde, Julika, Borg, Ake, Bradbury, Angela R, Brady, Angela, Brewer, Carole, Brunet, Joan, Buecher, Bruno, Buys, Saundra S, Cabezas-Camarero, Santiago, Caldés, Trinidad, Caliebe, Almuth, Caligo, Maria A, Calvello, Mariarosaria, Campbell, Ian G, Carnevali, Ileana, Carrasco, Estela, Chan, Tsun L, Chu, Annie T W, Chung, Wendy K, Claes, Kathleen B M, Collaborators, Gemo Study, Collaborators, Embrace, Cook, Jackie, Cortesi, Laura, Couch, Fergus J, Daly, Mary B, Damante, Giuseppe, Darder, Esther, Davidson, Rosemarie, de la Hoya, Miguel, Puppa, Lara Della, Dennis, Joe, Díez, Orland, Ding, Yuan Chun, Ditsch, Nina, Domchek, Susan M, Donaldson, Alan, Dworniczak, Bernd, Easton, Douglas F, Eccles, Diana M, Eeles, Rosalind A, Ehrencrona, Hans, Ejlertsen, Bent, Engel, Christoph, Evans, D Gareth, Faivre, Laurence, Faust, Ulrike, Feliubadaló, Lídia, Foretova, Lenka, Fostira, Florentia, Fountzilas, George, Frost, Debra, García-Barberán, Vanesa, Garre, Pilar, Gauthier-Villars, Marion, Géczi, Lajos, Gehrig, Andrea, Gerdes, Anne-Marie, Gesta, Paul, Giannini, Giuseppe, Glendon, Gord, Godwin, Andrew K, Goldgar, David E, Greene, Mark H, Gutierrez-Barrera, Angelica M, Hahnen, Eric, Hamann, Ute, Hauke, Jan, Herold, Natalie, Hogervorst, Frans B L, Honisch, Ellen, Hopper, John L, Hulick, Peter J, Investigators, KConFab, Investigators, Hebon, Izatt, Louise, Jager, Agnes, James, Paul, Janavicius, Ramunas, Jensen, Uffe Birk, Jensen, Thomas Dyrso, Johannsson, Oskar Th, John, Esther M, Joseph, Vijai, Kang, Eunyoung, Kast, Karin, Kiiski, Johanna I, Kim, Sung-Won, Kim, Zisun, Ko, Kwang-Pil, Konstantopoulou, Irene, Kramer, Gero, Krogh, Lotte, Kruse, Torben A, Kwong, Ava, Larsen, Mirjam, Lasset, Christine, Lautrup, Charlotte, Lazaro, Conxi, Lee, Jihyoun, Lee, Jong Won, Lee, Min Hyuk, Lemke, Johannes, Lesueur, Fabienne, Liljegren, Annelie, Lindblom, Annika, Llovet, Patricia, Lopez-Fernández, Adria, Lopez-Perolio, Irene, Lorca, Victor, Loud, Jennifer T, Ma, Edmond S K, Mai, Phuong L, Manoukian, Siranoush, Mari, Veronique, Martin, Lynn, Matricardi, Laura, Mebirouk, Noura, Medici, Veronica, Meijers-Heijboer, Hanne E J, Meindl, Alfons, Mensenkamp, Arjen R, Miller, Clare, Gomes, Denise Molina, Montagna, Marco, Mooij, Thea M, Moserle, Lidia, Mouret-Fourme, Emmanuelle, Mulligan, Anna Marie, Nathanson, Katherine L, Navratilova, Marie, Nevanlinna, Heli, Niederacher, Dieter, Nielsen, Finn C Cilius, Nikitina-Zake, Liene, Offit, Kenneth, Olah, Edith, Olopade, Olufunmilayo I, Ong, Kai-Ren, Osorio, Ana, Ott, Claus-Eric, Palli, Domenico, Park, Sue K, Parsons, Michael T, Pedersen, Inge Sokilde, Peissel, Bernard, Peixoto, Ana, Pérez-Segura, Pedro, Peterlongo, Paolo, Petersen, Annabeth Høgh, Porteous, Mary E, Pujana, Miguel Angel, Radice, Paolo, Ramser, Juliane, Rantala, Johanna, Rashid, Muhammad U, Rhiem, Kerstin, Rizzolo, Piera, Robson, Mark E, Rookus, Matti A, Rossing, Caroline M, Ruddy, Kathryn J, Santos, Catarina, Saule, Claire, Scarpitta, Rosa, Schmutzler, Rita K, Schuster, Hélène, Senter, Leigha, Seynaeve, Caroline M, Shah, Payal D, Sharma, Priyanka, Shin, Vivian Y, Silvestri, Valentina, Simard, Jacques, Singer, Christian F, Skytte, Anne-Bine, Snape, Katie, Solano, Angela R, Soucy, Penny, Southey, Melissa C, Spurdle, Amanda B, Steele, Linda, Steinemann, Doris, Stoppa-Lyonnet, Dominique, Stradella, Agostina, Sunde, Lone, Sutter, Christian, Tan, Yen Y, Teixeira, Manuel R, Teo, Soo Hwang, Thomassen, Mads, Tibiletti, Maria Grazia, Tischkowitz, Marc, Tognazzo, Silvia, Toland, Amanda E, Tommasi, Stefania, Torres, Diana, Toss, Angela, Trainer, Alison H, Tung, Nadine, van Asperen, Christi J, van der Baan, Frederieke H, van der Kolk, Lizet E, van der Luijt, Rob B, van Hest, Liselotte P, Varesco, Liliana, Varon-Mateeva, Raymonda, Viel, Alessandra, Vierstraete, Jeroen, Villa, Roberta, von Wachenfeldt, Anna, Wagner, Philipp, Wang-Gohrke, Shan, Wappenschmidt, Barbara, Weitzel, Jeffrey N, Wieme, Greet, Yadav, Siddhartha, Yannoukakos, Drakoulis, Yoon, Sook-Yee, Zanzottera, Cristina, Zorn, Kristin K, D'Amico, Anthony V, Freedman, Matthew L, Pomerantz, Mark M, Chenevix-Trench, Georgia, Antoniou, Antonis C, Neuhausen, Susan L, Ottini, Laura, Nielsen, Henriette Roed, and Rebbeck, Timothy R

Abstract

Pathogenic sequence variants (PSV) in BRCA1 or BRCA2 (BRCA1/2) are associated with increased risk and severity of prostate cancer. We evaluated whether PSVs in BRCA1/2 were associated with risk of overall prostate cancer or high grade (Gleason 8+) prostate cancer using an international sample of 65 BRCA1 and 171 BRCA2 male PSV carriers with prostate cancer, and 3,388 BRCA1 and 2,880 BRCA2 male PSV carriers without prostate cancer. PSVs in the 3' region of BRCA2 (c.7914+) were significantly associated with elevated risk of prostate cancer compared with reference bin c.1001-c.7913 [HR = 1.78; 95% confidence interval (CI), 1.25-2.52; P = 0.001], as well as elevated risk of Gleason 8+ prostate cancer (HR = 3.11; 95% CI, 1.63-5.95; P = 0.001). c.756-c.1000 was also associated with elevated prostate cancer risk (HR = 2.83; 95% CI, 1.71-4.68; P = 0.00004) and elevated risk of Gleason 8+ prostate cancer (HR = 4.95; 95% CI, 2.12-11.54; P = 0.0002). No genotype-phenotype associations were detected for PSVs in BRCA1. These results demonstrate that specific BRCA2 PSVs may be associated with elevated risk of developing aggressive prostate cancer. SIGNIFICANCE: Aggressive prostate cancer risk in BRCA2 mutation carriers may vary according to the specific BRCA2 mutation inherited by the at-risk individual.

Published
2020

234. Contribution of Germline Predisposition Gene Mutations to Breast Cancer Risk in African American Women.

Author

Palmer, Julie, Palmer, Julie, Polley, Eric, Hu, Chunling, John, Esther, Haiman, Christopher, Hart, Steven, Gaudet, Mia, Pal, Tuya, Trentham-Dietz, Amy, Bernstein, Leslie, Ambrosone, Christine, Bandera, Elisa, Bertrand, Kimberly, Bethea, Traci, Gao, Chi, Gnanaolivu, Rohan, Huang, Hongyan, Lee, Kun, LeMarchand, Loic, Na, Jie, Sandler, Dale, Shah, Payal, Yadav, Siddhartha, Yang, William, Weitzel, Jeffrey, Domchek, Susan, Goldgar, David, Nathanson, Katherine, Kraft, Peter, Yao, Song, Couch, Fergus, Anton-Culver, Hoda, Palmer, Julie, Palmer, Julie, Polley, Eric, Hu, Chunling, John, Esther, Haiman, Christopher, Hart, Steven, Gaudet, Mia, Pal, Tuya, Trentham-Dietz, Amy, Bernstein, Leslie, Ambrosone, Christine, Bandera, Elisa, Bertrand, Kimberly, Bethea, Traci, Gao, Chi, Gnanaolivu, Rohan, Huang, Hongyan, Lee, Kun, LeMarchand, Loic, Na, Jie, Sandler, Dale, Shah, Payal, Yadav, Siddhartha, Yang, William, Weitzel, Jeffrey, Domchek, Susan, Goldgar, David, Nathanson, Katherine, Kraft, Peter, Yao, Song, Couch, Fergus, and Anton-Culver, Hoda

Abstract

BACKGROUND: The risks of breast cancer in African American (AA) women associated with inherited mutations in breast cancer predisposition genes are not well defined. Thus, whether multigene germline hereditary cancer testing panels are applicable to this population is unknown. We assessed associations between mutations in panel-based genes and breast cancer risk in 5054 AA women with breast cancer and 4993 unaffected AA women drawn from 10 epidemiologic studies. METHODS: Germline DNA samples were sequenced for mutations in 23 cancer predisposition genes using a QIAseq multiplex amplicon panel. Prevalence of mutations and odds ratios (ORs) for associations with breast cancer risk were estimated with adjustment for study design, age, and family history of breast cancer. RESULTS: Pathogenic mutations were identified in 10.3% of women with estrogen receptor (ER)-negative breast cancer, 5.2% of women with ER-positive breast cancer, and 2.3% of unaffected women. Mutations in BRCA1, BRCA2, and PALB2 were associated with high risks of breast cancer (OR = 47.55, 95% confidence interval [CI] = 10.43 to >100; OR = 7.25, 95% CI = 4.07 to 14.12; OR = 8.54, 95% CI = 3.67 to 24.95, respectively). RAD51D mutations were associated with high risk of ER-negative disease (OR = 7.82, 95% CI = 1.61 to 57.42). Moderate risks were observed for CHEK2, ATM, ERCC3, and FANCC mutations with ER-positive cancer, and RECQL mutations with all breast cancer. CONCLUSIONS: The study identifies genes that predispose to breast cancer in the AA population, demonstrates the validity of current breast cancer testing panels for use in AA women, and provides a basis for increased referral of AA patients for cancer genetic testing.

Published
2020

235. Assisting and empowering women facing natural disasters: drawing from Security Council resolution 1325.

Author

Shah, Payal K.

Subjects
United Nations. Security Council -- Powers and duties, Women -- Laws, regulations and rules -- Powers and duties, Emergency management -- Demographic aspects -- Laws, regulations and rules, Government regulation, Disaster planning, United Nations Convention on the Elimination of All Forms of Discrimination Against Women
Abstract

In the wake of the tsunami that hit the coastal communities of the Indian Ocean, images of women were splashed over the media's reports of the catastrophe. But while sympathy [...]

Published
2006

237. Abstract PD9-10: Investigating the clinical utility of tumor mutational burden in predicting rapid progression and death in patients with metastatic breast cancer

Author

Makhlin, Igor, primary, Clark, Amy S, additional, Wileyto, Paul, additional, Goodman, Noah, additional, Ndicu, John, additional, DeLuca, Shannon, additional, Clark, Candace, additional, Stavropoulos, S. William, additional, Shih, Natalie, additional, Feldman, Michael D, additional, Domchek, Susan M, additional, Matro, Jennifer M, additional, Shah, Payal D, additional, Knollman, Hayley M, additional, Fox, Kevin R, additional, Maxwell, Kara N, additional, Chodosh, Lewis A, additional, and DeMichele, Angela, additional

Published
2021
Full Text
View/download PDF

238. Abstract PD9-11: Identifying breast cancer survivors with dormant disseminated tumor cells: The PENN-SURMOUNT screening study

Author

Bayne, Lauren, primary, Nivar, Isoris, additional, Goodspeed, Brooke, additional, Deluca, Shannon, additional, Wileyto, E. Paul, additional, Shih, Natalie, additional, Nayak, Anupma, additional, Feldman, Michael D, additional, Edwards, Joshua, additional, Fox, Kevin, additional, Matro, Jennifer M., additional, Domchek, Susan, additional, Knollman, Hayley, additional, Jankowitz, Rachel, additional, Bradbury, Angela, additional, Shah, Payal D., additional, Graves, Jewell, additional, Woodfield, George, additional, Chislock, Elizabeth, additional, Wang, Jianping, additional, Belka, George, additional, Chodosh, Lewis A., additional, Clark, Amy S., additional, and DeMichele, Angela, additional

Published
2021
Full Text
View/download PDF

239. Abstract PS11-10: A Phase 1b/2 Study of the BET inhibitor ZEN003694 in combination with talazoparib for treatment of patients with TNBC without gBRCA1/2 mutations

Author

Aftimos, Philippe, primary, Oliveira, Mafalda, additional, Punie, Kevin, additional, Boni, Valentina, additional, Hamilton, Erika, additional, Gucalp, Ayca, additional, Shah, Payal, additional, Mina, Lida, additional, Sharma, Priyanka, additional, Bauman, Lisa, additional, Campeau, Eric, additional, Attwell, Sarah, additional, Snyder, Margo, additional, Norek, Karen, additional, Czibere, Akos, additional, Yu, Yanke, additional, Silverman, Michael H, additional, Lakhotia, Sanjay, additional, Domchek, Susan, additional, Litton, Jennifer, additional, and Robson, Mark, additional

Published
2021
Full Text
View/download PDF

242. TBCRC 048: Phase II Study of Olaparib for Metastatic Breast Cancer and Mutations in Homologous Recombination-Related Genes

Author

Tung, Nadine M., primary, Robson, Mark E., additional, Ventz, Steffen, additional, Santa-Maria, Cesar A., additional, Nanda, Rita, additional, Marcom, Paul K., additional, Shah, Payal D., additional, Ballinger, Tarah J., additional, Yang, Eddy S., additional, Vinayak, Shaveta, additional, Melisko, Michelle, additional, Brufsky, Adam, additional, DeMeo, Michelle, additional, Jenkins, Colby, additional, Domchek, Susan, additional, D’Andrea, Alan, additional, Lin, Nancy U., additional, Hughes, Melissa E., additional, Carey, Lisa A., additional, Wagle, Nick, additional, Wulf, Gerburg M., additional, Krop, Ian E., additional, Wolff, Antonio C., additional, Winer, Eric P., additional, and Garber, Judy E., additional

Published
2020
Full Text
View/download PDF

243. Loss of alpha‐globin genes in human subjects is associated with improved nitric oxide‐mediated vascular perfusion

Author

Denton, Christopher C., primary, Shah, Payal, additional, Suriany, Silvie, additional, Liu, Honglei, additional, Thuptimdang, Wanwara, additional, Sunwoo, John, additional, Chalacheva, Patjanaporn, additional, Veluswamy, Saranya, additional, Kato, Roberta, additional, Wood, John C., additional, Detterich, Jon A., additional, Khoo, Michael C. K., additional, and Coates, Thomas D., additional

Published
2020
Full Text
View/download PDF

247. Acceptability of artificial intelligence-based retina screening in general population.

Author

Shah, Payal, Mishra, Divyansh, Shanmugam, Mahesh, Vighnesh, M, Jayaraj, Hariprasad, and Vighnesh, M J

Subjects
*RETINA, *ARTIFICIAL intelligence, *EYE care, *CAMERA phones, *DEEP learning
Abstract

Purpose: A deep learning system (DLS) using artificial intelligence (AI) is emerging as a very promising technology in the future of healthcare diagnostics. While the concept of telehealth is emerging in every field of medicine, AI assistance in diagnosis can become a great tool for successful screening in telemedicine and teleophthalmology. The aim of our study was to assess the acceptability of AI-based retina screening.Methods: This was a prospective non-randomized study performed in the outpatient department of a tertiary eye care hospital. Patients older than 18 years who came for a regular eye check-up or a routine retina screening were recruited in the study. Fundus images of the posterior pole were captured on fundus on a phone camera (REMIDIOTM, India) with a built-in AI software (Netra.AI) that can identify normal versus abnormal retina. The patients were then given an 8-point questionnaire to assess their acceptance and willingness toward AI-based screening. We recruited 104 participants.Results: We found that 90.4% were willing for an AI-based fundus screening; 96.2% were satisfied with AI-based screening. Patients with diabetes (P = 0.03) and the male population (P = 0.029) were more satisfied with the AI-based screening. The majority (i.e., 97.1%) felt that AI-based screening gave them a better understanding of their eye condition and 37.5% felt that AI-based retina screening prior to a doctor's visit can help in routine screening.Conclusion: Considering the current COVID-19 pandemic situation across the globe, this study highlights the importance of AI-based telescreening and positive patient approach toward this technology. [ABSTRACT FROM AUTHOR]

Published
2022
Full Text
View/download PDF

248. Common Microbes and Antibiotic Resistance in Ocular Infections at an Urban Public Tertiary Care Hospital.

Author

Geevarghese, Alexi, Shah, Payal, Lopez, Jennifer, Tsui, Edmund, and Raju, Leela

Abstract

We aim to describe ocular infection epidemiology for a public tertiary care hospital in New York City (NYC). We retrospectively reviewed 558 patients with ocular isolates from conjunctival, corneal, and intraocular culture from 2009 to 2017 for microbial growth and antimicrobial sensitivities. In total, 185 ocular cultures (33%) had growth and the most commonly isolated microbes overall were Staphylococcus aureus (S. aureus) (23%), coagulase-negative Staphylococcus (CoNS) (23%), Pseudomonas aeruginosa (P. aeruginosa) (16%), and Streptococcus viridans (S. viridans) group (11%). The most common microbes within corneal (n = 61), conjunctival (n = 34), and intraocular isolates (n = 9) were P. aeruginosa (37.7%), S. aureus (35.3%), and S. viridans group (33.3%), respectively. Proportion of isolates exhibiting multi-drug resistance decreased over time (P =.006). The microbial epidemiology of ocular infection of a public NYC hospital was distinct from other geographic locations, underscoring the importance of examining local profiles to more precisely inform empiric therapy. [ABSTRACT FROM AUTHOR]

Published
2022
Full Text
View/download PDF

249. Loss of Alpha Globin Genes in Human Subjects Is Associated with Improved Nitric Oxide-Mediated Vascular Perfusion

Author

Denton, Christopher C, primary, Shah, Payal, additional, Suriany, Silvie, additional, Liu, Honglei, additional, Thuptimdang, Wanwara, additional, Sunwoo, John, additional, Chalacheva, Patjanaporn, additional, Veluswamy, Saranya, additional, Kato, Roberta Miyeko, additional, Wood, John C, additional, Detterich, Jon A, additional, Khoo, Michael C.K., additional, and Coates, Thomas D., additional

Published
2020
Full Text
View/download PDF

Catalog

Books, media, physical & digital resources
See catalog results