Perceptions of Delayed Alopecia Among Breast Cancer Survivors

Authors: Premji, Sarah K. ^{1, ⁎}, Ruddy, Kathryn J. ¹, Vierkant, Robert A. ², Larson, Nicole ³, Loprinzi, Charles ¹, Dulmage, Brittany ⁴, Lustberg, Maryam ⁵, Couch, Fergus J. ⁶, Olson, Janet E. ⁷, Cathcart-Rake, Elizabeth ¹

Source: In Clinical Breast Cancer February 2025 25(2):e170-e177

Madarosis Among Breast Cancer Survivors

Authors: Premji, Sarah K., Ruddy, Kathryn J., Larson, Nicole, Loprinzi, Charles L., Dulmage, Brittany, Lustberg, Maryam, Couch, Fergus J., Olson, Janet E., Cathcart-Rake, Elizabeth

Source: In Clinical Breast Cancer December 2024 24(8):e757-e763

Specifications of the ACMG/AMP variant curation guidelines for the analysis of germline ATM sequence variants

Authors: Richardson, Marcy E., Holdren, Megan, Brannan, Terra, de la Hoya, Miguel, Spurdle, Amanda B., Tavtigian, Sean V., Young, Colin C., Zec, Lauren, Hiraki, Susan, Anderson, Michael J., Walker, Logan C., McNulty, Shannon, Turnbull, Clare, Tischkowitz, Marc, Schon, Katherine, Slavin, Thomas, Foulkes, William D., Cline, Melissa, Monteiro, Alvaro N., Pesaran, Tina, Couch, Fergus J.

Source: In The American Journal of Human Genetics 7 November 2024 111(11):2411-2426

Evidence-based recommendations for gene-specific ACMG/AMP variant classification from the ClinGen ENIGMA BRCA1 and BRCA2 Variant Curation Expert Panel

Authors: Parsons, Michael T., de la Hoya, Miguel, Richardson, Marcy E., Tudini, Emma, Anderson, Michael, Berkofsky-Fessler, Windy, Caputo, Sandrine M., Chan, Raymond C., Cline, Melissa S., Feng, Bing-Jian, Fortuno, Cristina, Gomez-Garcia, Encarna, Hadler, Johanna, Hiraki, Susan, Holdren, Megan, Houdayer, Claude, Hruska, Kathleen, James, Paul, Karam, Rachid, Leong, Huei San, Martins, Alexandra, Mensenkamp, Arjen R., Monteiro, Alvaro N., Nathan, Vaishnavi, O'Connor, Robert, Pedersen, Inge Sokilde, Pesaran, Tina, Radice, Paolo, Schmidt, Gunnar, Southey, Melissa, Tavtigian, Sean, Thompson, Bryony A., Toland, Amanda E., Turnbull, Clare, Vogel, Maartje J., Weyandt, Jamie, Wiggins, George A.R., Zec, Lauren, Couch, Fergus J., Walker, Logan C., Vreeswijk, Maaike P.G., Goldgar, David E., Spurdle, Amanda B.

Source: In The American Journal of Human Genetics 5 September 2024 111(9):2044-2058

Functional analysis and clinical classification of 462 germline BRCA2 missense variants affecting the DNA binding domain

Authors: Hu, Chunling, Huang, Huaizhi, Na, Jie, Lumby, Carolyn, Abozaid, Mohamed, Holdren, Megan A., Rao, Tara J., Karam, Rachid, Pesaran, Tina, Weyandt, Jamie D., Csuy, Christen M., Seelaus, Christina A., Young, Colin C., Fulk, Kelly, Heidari, Zahra, Morais Lyra, Paulo Cilas, Jr., Couch, Ronan E., Persons, Benjamin, Polley, Eric C., Gnanaolivu, Rohan D., Boddicker, Nicholas J., Monteiro, Alvaro N.A., Yadav, Siddhartha, Domchek, Susan M., Richardson, Marcy E., Couch, Fergus J.

Source: In The American Journal of Human Genetics 7 March 2024 111(3):584-593

Real-World Evidence on Prescribing Patterns and Clinical Outcomes of Metastatic Breast Cancer Patients Treated with PARP Inhibitors: The Mayo Clinic Experience

Authors: Jahan, Nusrat, Taraba, Jodi, Boddicker, Nicholas J, Giridhar, Karthik V., Leon-Ferre, Roberto A., Tevaarwerk, Amye J., Cathcart-Rake, Elizabeth, O'Sullivan, Ciara C., Peethambaram, Prema P., Hobday, Timothy J., Mina, Lida A., Batalini, Felipe, Advani, Pooja, Sideras, Kostandinos, Haddad, Tufia C., Ruddy, Kathryn J., Goetz, Matthew P., Couch, Fergus J., Yadav, Siddhartha

Source: In Clinical Breast Cancer October 2024

Association of the CHEK2 c.1100delC variant, radiotherapy, and systemic treatment with contralateral breast cancer risk and breast cancer‐specific survival

Authors: Morra, Anna, Schreurs, Maartje A. C., Andrulis, Irene L., Anton‐Culver, Hoda, Augustinsson, Annelie, Beckmann, Matthias W., Behrens, Sabine, Bojesen, Stig E., Bolla, Manjeet K., Brauch, Hiltrud, Broeks, Annegien, Buys, Saundra S., Camp, Nicola J., Castelao, Jose E., Cessna, Melissa H., Chang‐Claude, Jenny, Chung, Wendy K., Sahlberg, Kristine K., Børresen‐Dale, Anne‐Lise, Gram, Inger Torhild, Olsen, Karina Standahl, Engebråten, Olav, Naume, Bjørn, Geisler, Jürgen, Grenaker Alnæs, Grethe I., Colonna, Sarah V., Couch, Fergus J., Cox, Angela, Cross, Simon S., Czene, Kamila, Daly, Mary B., Dennis, Joe, Devilee, Peter, Dörk, Thilo, Dunning, Alison M., Dwek, Miriam, Easton, Douglas F., Eccles, Diana M., Eriksson, Mikael, Evans, D. Gareth, Fasching, Peter A., Fehm, Tanja N., Figueroa, Jonine D., Flyger, Henrik, Gabrielson, Marike, Gago‐Dominguez, Manuela, García‐Closas, Montserrat, García‐Sáenz, José A., Genkinger, Jeanine, Grassmann, Felix, Gündert, Melanie, Hahnen, Eric, Haiman, Christopher A., Hamann, Ute, Harrington, Patricia A., Hartikainen, Jaana M., Hoppe, Reiner, Hopper, John L., Houlston, Richard S., Howell, Anthony, Clarke, Christine, Marsh, Deborah, Scott, Rodney, Baxter, Robert, Yip, Desmond, Carpenter, Jane, Davis, Alison, Pathmanathan, Nirmala, Simpson, Peter, Graham, J. Dinny, Sachchithananthan, Mythily, Amor, David, Andrews, Lesley, Antill, Yoland, Balleine, Rosemary, Beesley, Jonathan, Bennett, Ian, Bogwitz, Michael, Botes, Leon, Brennan, Meagan, Brown, Melissa, Buckley, Michael, Burke, Jo, Butow, Phyllis, Caldon, Liz, Campbell, Ian, Cao, Michelle, Chakrabarti, Anannya, Chauhan, Deepa, Chauhan, Manisha, Chenevix‐Trench, Georgia, Christian, Alice, Cohen, Paul, Colley, Alison, Crook, Ashley, Cui, James, Courtney, Eliza, Cummings, Margaret, Dawson, Sarah‐Jane, DeFazio, Anna, Delatycki, Martin, Dickson, Rebecca, Dixon, Joanne, Edkins, Ted, Edwards, Stacey, Farshid, Gelareh, Fellows, Andrew, Fenton, Georgina, Field, Michael, Flanagan, James, Fong, Peter, Forrest, Laura, Fox, Stephen, French, Juliet, Friedlander, Michael, Gaff, Clara, Gattas, Mike, George, Peter, Greening, Sian, Harris, Marion, Hart, Stewart, Hayward, Nick, Hopper, John, Hoskins, Cass, Hunt, Clare, James, Paul, Jenkins, Mark, Kidd, Alexa, Kirk, Judy, Koehler, Jessica, Kollias, James, Lakhani, Sunil, Lawrence, Mitchell, Lee, Jason, Li, Shuai, Lindeman, Geoff, Lipton, Lara, Lobb, Liz, Loi, Sherene, Mann, Graham, McLachlan, Sue Anne, Meiser, Bettina, Milne, Roger, Nightingale, Sophie, O'Connell, Shona, O'Sullivan, Sarah, Ortega, David Gallego, Pachter, Nick, Pang, Jia‐Min, Pathak, Gargi, Patterson, Briony, Pearn, Amy, Phillips, Kelly, Pieper, Ellen, Ramus, Susan, Rickard, Edwina, Robinson, Bridget, Saleh, Mona, Skandarajah, Anita, Salisbury, Elizabeth, Saunders, Christobel, Saunus, Jodi, Scott, Clare, Sexton, Adrienne, Shelling, Andrew, Southey, Melissa, Spurdle, Amanda, Taylor, Jessica, Taylor, Renea, Thorne, Heather, Trainer, Alison, Tucker, Kathy, Visvader, Jane, Walker, Logan, Williams, Rachael, Winship, Ingrid, Young, Mary Ann, Zaheed, Milita, Jakubowska, Anna, Janni, Wolfgang, Jernström, Helena, John, Esther M., Johnson, Nichola, Jones, Michael E., Kristensen, Vessela N., Kurian, Allison W., Lambrechts, Diether, Le Marchand, Loic, Lindblom, Annika, Lubiński, Jan, Lux, Michael P., Mannermaa, Arto, Mavroudis, Dimitrios, Mulligan, Anna Marie, Muranen, Taru A., Nevanlinna, Heli, Nevelsteen, Ines, Neven, Patrick, Newman, William G., Obi, Nadia, Offit, Kenneth, Olshan, Andrew F., Park‐Simon, Tjoung‐Won, Patel, Alpa V., Peterlongo, Paolo, Phillips, Kelly‐Anne, Plaseska‐Karanfilska, Dijana, Polley, Eric C., Presneau, Nadege, Pylkäs, Katri, Rack, Brigitte, Radice, Paolo, Rashid, Muhammad U., Rhenius, Valerie, Robson, Mark, Romero, Atocha, Saloustros, Emmanouil, Sawyer, Elinor J., Schmutzler, Rita K., Schuetze, Sabine, Scott, Christopher, Shah, Mitul, Smichkoska, Snezhana, Southey, Melissa C., Tapper, William J., Teras, Lauren R., Tollenaar, Rob A. E. M., Tomczyk, Katarzyna, Tomlinson, Ian, Troester, Melissa A., Vachon, Celine M., Veen, Elke M., Wang, Qin, Wendt, Camilla, Wildiers, Hans, Winqvist, Robert, Ziogas, Argyrios, Hall, Per, Pharoah, Paul D. P., Adank, Muriel A., Hollestelle, Antoinette, Schmidt, Marjanka K., Hooning, Maartje J.

Source: Cancer medicine. 12(15):16142-16162

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100191750966.0x000001&indx=1&recIds=ETOCvdc_100191750966.0x000001

Summary of the experiences, knowledge, medical management, and family communication of monoallelic MUTYH carriers

Authors: McKenna, Danielle B., Sanchez, Pauleen, Powers, Jacquelyn, Brower, Jamie, Wang, Louise, Mueller, Rebecca, Symecko, Heather, Hamilton, Jada G., Wildman, Temima, Domchek, Susan M., Couch, Fergus J., Garber, Judy E., Offit, Kenneth, Robson, Mark E., Katona, Bryson W.

Source: Journal of genetic counseling. 32(2):342-350

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100182212722.0x000001&indx=1&recIds=ETOCvdc_100182212722.0x000001

The risks of cancer in older women with BRCA pathogenic variants: How far have we come?

Authors: Metcalfe, Kelly A., Gronwald, Jacek, Tung, Nadine M., McCuaig, Jeanna M., Eisen, Andrea, Elser, Christine, Foulkes, William D., Neuhausen, Susan L., Senter, Leigha, Moller, Pal, Bordeleau, Louise, Fruscio, Robert, Velsher, Lea, Zakalik, Dana, Olopade, Olufunmilayo I., Eng, Charis, Pal, Tuya, Cullinane, Carey A., Couch, Fergus J., Kotsopoulos, Joanne, Sun, Ping, Lubinski, Jan, Narod, Steven A.

Source: Cancer. 129(6):901-907

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100175806970.0x000001&indx=1&recIds=ETOCvdc_100175806970.0x000001

Association of raloxifene and tamoxifen therapy with cognitive performance, odds of mild cognitive impairment, and brain MRI markers of neurodegeneration

Authors: Kara, Firat, Lohse, Christine M., Castillo, Anna M., Tosakulwong, Nirubol, Lesnick, Timothy G., Jack, Clifford R., Petersen, Ronald C., Olson, Janet E., Couch, Fergus J., Ruddy, Kathryn J., Kantarci, Kejal, Mielke, Michelle M.

Source: Cancer medicine. 12(3):2805-2817

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100175787908.0x000001&indx=1&recIds=ETOCvdc_100175787908.0x000001

Genome-wide association study identifies novel breast cancer susceptibility loci

Authors: Easton, Douglas F., Pooley, Karen A., Dunning, Alison M., Pharoah, Paul D. P., Thompson, Deborah, Ballinger, Dennis G., Struewing, Jeffery P., Morrison, Jonathan, Field, Helen, Luben, Robert, Wareham, Nicholas, Ahmed, Shahana, Healey, Catherine S., Bowman, Richard, Meyer, Kerstin B., Haiman, Christopher A., Kolonel, Laurence K., Henderson, Brian E., Le Marchand, Loic, Brennan, Paul, Sangrajrang, Suleeporn, Gaborieau, Valerie, Odefrey, Fabrice, Shen, Chen-Yang, Wu, Pei-Ei, Wang, Hui-Chun, Eccles, Diana, Evans, D. Gareth, Peto, Julian, Fletcher, Olivia, Johnson, Nichola, Seal, Sheila, Stratton, Michael R., Rahman, Nazneen, Chenevix-Trench, Georgia, Bojesen, Stig E., Nordestgaard, Børge G., Axelsson, Christen K., Garcia-Closas, Montserrat, Brinton, Louise, Chanock, Stephen, Lissowska, Jolanta, Peplonska, Beata, Nevanlinna, Heli, Fagerholm, Rainer, Eerola, Hannaleena, Kang, Daehee, Yoo, Keun-Young, Noh, Dong-Young, Ahn, Sei-Hyun, Hunter, David J., Hankinson, Susan E., Cox, David G., Hall, Per, Wedren, Sara, Liu, Jianjun, Low, Yen-Ling, Bogdanova, Natalia, Schu¨rmann, Peter, Do¨rk, Do¨rk, Tollenaar, Rob A. E. M., Jacobi, Catharina E., Devilee, Peter, Klijn, Jan G. M., Sigurdson, Alice J., Doody, Michele M., Alexander, Bruce H., Zhang, Jinghui, Cox, Angela, Brock, Ian W., MacPherson, Gordon, Reed, Malcolm W. R., Couch, Fergus J., Goode, Ellen L., Olson, Janet E., Meijers-Heijboer, Hanne, van den Ouweland, Ans, Uitterlinden, Andre´, Rivadeneira, Fernando, Milne, Roger L., Ribas, Gloria, Gonzalez-Neira, Anna, Benitez, Javier, Hopper, John L., McCredie, Margaret, Southey, Melissa, Giles, Graham G., Schroen, Chris, Justenhoven, Christina, Brauch, Hiltrud, Hamann, Ute, Ko, Yon-Dschun, Spurdle, Amanda B., Beesley, Jonathan, Chen, Xiaoqing, kConFab, the SEARCH, collaborators, AOCS, Management Group, Mannermaa, Arto, Kosma, Veli-Matti, Kataja, Vesa, Hartikainen, Jaana, Day, Nicholas E., Cox, David R., Ponder, Bruce A. J.

Source: Easton, Douglas F. and Pooley, Karen A. and Dunning, Alison M. and Pharoah, Paul D. P. and Thompson, Deborah and Ballinger, Dennis G. and Struewing, Jeffery P. and Morrison, Jonathan and Field, Helen and Luben, Robert and Wareham, Nicholas and Ahmed, Shahana and Healey, Catherine S. and Bowman, Richard and Meyer, Kerstin B. and Haiman, Christopher A. and Kolonel, Laurence K. and Henderson, Brian E. and Le Marchand, Loic and Brennan, Paul and Sangrajrang, Suleeporn and Gaborieau, Valerie and Odefrey, Fabrice and Shen, Chen-Yang and Wu, Pei-Ei and Wang, Hui-Chun and Eccles, Diana and Evans, D. Gareth and Peto, Julian and Fletcher, Olivia and Johnson, Nichola and Seal, Sheila and Stratton, Michael R. and Rahman, Nazneen and Chenevix-Trench, Georgia and Bojesen, Stig E. and Nordestgaard, Børge G. and Axelsson, Christen K. and Garcia-Closas, Montserrat and Brinton, Louise and Chanock, Stephen and Lissowska, Jolanta and Peplonska, Beata and Nevanlinna, Heli and Fagerholm, Rainer and Eerola, Hannaleena and Kang, Daehee and Yoo, Keun-Young and Noh, Dong-Young and Ahn, Sei-Hyun and Hunter, David J. and Hankinson, Susan E. and Cox, David G. and Hall, Per and Wedren, Sara and Liu, Jianjun and Low, Yen-Ling and Bogdanova, Natalia and Schu¨rmann, Peter and Do¨rk, Do¨rk and Tollenaar, Rob A. E. M. and Jacobi, Catharina E. and Devilee, Peter and Klijn, Jan G. M. and Sigurdson, Alice J. and Doody, Michele M. and Alexander, Bruce H. and Zhang, Jinghui and Cox, Angela and Brock, Ian W. and MacPherson, Gordon and Reed, Malcolm W. R. and Couch, Fergus J. and Goode, Ellen L. and Olson, Janet E. and Meijers-Heijboer, Hanne and van den Ouweland, Ans and Uitterlinden, Andre´ and Rivadeneira, Fernando and Milne, Roger L. and Ribas, Gloria and Gonzalez-Neira, Anna and Benitez, Javier and Hopper, John L. and McCredie, Margaret and Southey, Melissa and Giles, Graham G. and Schroen, Chris and Justenhoven, Christina and Brauch, Hiltrud and Hamann, Ute and Ko, Yon-Dschun and Spurdle, Amanda B. and Beesley, Jonathan and Chen, Xiaoqing and kConFab, _ and the SEARCH, collaborators and AOCS, Management Group and Mannermaa, Arto and Kosma, Veli-Matti and Kataja, Vesa and Hartikainen, Jaana and Day, Nicholas E. and Cox, David R. and Ponder, Bruce A. J. (2007) Genome-wide association study identifies novel breast cancer susceptibility loci. Nature, 447. pp. 1087-1093.

Relation: http://www.nature.com/nature/journal/v447/n7148/full/nature05887.html#abs; http://health-equity.pitt.edu/707/

Incorporating progesterone receptor expression into the PREDICT breast prognostic model

Authors: Grootes, Isabelle, Keeman, Renske, Blows, Fiona M., Milne, Roger L., Giles, Graham G., Swerdlow, Anthony J., Fasching, Peter A., Abubakar, Mustapha, Andrulis, Irene L., Anton-Culver, Hoda, Beckmann, Matthias W., Blomqvist, Carl, Bojesen, Stig E., Bolla, Manjeet K., Bonanni, Bernardo, Briceno, Ignacio, Burwinkel, Barbara, Camp, Nicola J., Castelao, Jose E., Choi, Ji-Yeob, Clarke, Christine L., Couch, Fergus J., Cox, Angela, Cross, Simon S., Czene, Kamila, Devilee, Peter, Dörk, Thilo, Dunning, Alison M., Dwek, Miriam, Easton, Douglas F., Eccles, Diana M., Eriksson, Mikael, Ernst, Kristina, Evans, D. Gareth, Figueroa, Jonine D., Fink, Visnja, Floris, Giuseppe, Fox, Stephen, Gabrielson, Marike, Gago-Dominguez, Manuela, García-Sáenz, José A., González-Neira, Anna, Haeberle, Lothar, Haiman, Christopher A., Hall, Per, Hamann, Ute, Harkness, Elaine F., Hartman, Mikael, Hein, Alexander, Hooning, Maartje J., Hou, Ming-Feng, Howell, Sacha J., Ito, Hidemi, Jakubowska, Anna, Janni, Wolfgang, John, Esther M., Jung, Audrey, Kang, Daehee, Kristensen, Vessela N., Kwong, Ava, Lambrechts, Diether, Li, Jingmei, Lubiński, Jan, Manoochehri, Mehdi, Margolin, Sara, Matsuo, Keitaro, Taib, Nur Aishah Mohd, Mulligan, Anna Marie, Nevanlinna, Heli, Newman, William G., Offit, Kenneth, Osorio, Ana, Park, Sue K., Park-Simon, Tjoung-Won, Patel, Alpa V., Presneau, Nadege, Pylkäs, Katri, Rack, Brigitte, Radice, Paolo, Rennert, Gad, Romero, Atocha, Saloustros, Emmanouil, Sawyer, Elinor J., Schneeweiss, Andreas, Schochter, Fabienne, Schoemaker, Minouk J., Shen, Chen-Yang, Shibli, Rana, Sinn, Peter, Tapper, William J., Tawfiq, Essa, Teo, Soo Hwang, Teras, Lauren R., Torres, Diana, Vachon, Celine M., van Deurzen, Carolien H.M., Wendt, Camilla, Williams, Justin A., Winqvist, Robert, Elwood, Mark, Schmidt, Marjanka K., García-Closas, Montserrat, Pharoah, Paul D.P.

Source: European journal of cancer. 173:178-193

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100195213052.0x000001&indx=1&recIds=ETOCvdc_100195213052.0x000001

Tissue methylated DNA markers for sporadic pancreatic cancer are strongly associated with familial and genetically predisposed pancreatic cancer

Authors: Majumder, Shounak, Taylor, William R., Foote, Patrick H., Gysbers, Brianna J., Cao, Xiaoming, Mahoney, Douglas W., Burger, Kelli N., Doering, Karen A., Graham, Rondell P., Couch, Fergus J., Petersen, Gloria M., Kisiel, John B.

Source: Pancreatology. 22(6):770-773

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100170822471.0x000001&indx=1&recIds=ETOCvdc_100170822471.0x000001

Breast and Prostate Cancer Risks for Male BRCA1 and BRCA2 Pathogenic Variant Carriers Using Polygenic Risk Scores

Authors: Barnes, Daniel R, Silvestri, Valentina, Leslie, Goska, McGuffog, Lesley, Dennis, Joe, Yang, Xin, Adlard, Julian, Agnarsson, Bjarni A, Ahmed, Munaza, Aittomäki, Kristiina, Andrulis, Irene L, Arason, Adalgeir, Arnold, Norbert, Auber, Bernd, Azzollini, Jacopo, Balmaña, Judith, Barkardottir, Rosa B, Barrowdale, Daniel, Barwell, Julian, Belotti, Muriel, Benitez, Javier, Berthet, Pascaline, Boonen, Susanne E, Borg, Åke, Bozsik, Aniko, Brady, Angela F, Brennan, Paul, Brewer, Carole, Brunet, Joan, Bucalo, Agostino, Buys, Saundra S, Caldés, Trinidad, Caligo, Maria A, Campbell, Ian, Cassingham, Hayley, Christensen, Lise Lotte, Cini, Giulia, Claes, Kathleen B M, Cook, Jackie, Coppa, Anna, Cortesi, Laura, Damante, Giuseppe, Darder, Esther, Davidson, Rosemarie, de la Hoya, Miguel, De Leeneer, Kim, de Putter, Robin, Del Valle, Jesús, Diez, Orland, Ding, Yuan Chun, Domchek, Susan M, Donaldson, Alan, Eason, Jacqueline, Eeles, Ros, Engel, Christoph, Evans, D Gareth, Feliubadaló, Lidia, Fostira, Florentia, Frone, Megan, Frost, Debra, Gallagher, David, Gehrig, Andrea, Giraud, Sophie, Glendon, Gord, Godwin, Andrew K, Goldgar, David E, Greene, Mark H, Gregory, Helen, Gross, Eva, Hahnen, Eric, Hamann, Ute, Hansen, Thomas V O, Hanson, Helen, Hentschel, Julia, Horvath, Judit, Izatt, Louise, Izquierdo, Angel, James, Paul A, Janavicius, Ramunas, Jensen, Uffe Birk, Johannsson, Oskar Th, John, Esther M, Kramer, Gero, Kroeldrup, Lone, Kruse, Torben A, Lautrup, Charlotte, Lazaro, Conxi, Lesueur, Fabienne, Lopez-Fernández, Adria, Mai, Phuong L, Manoukian, Siranoush, Matrai, Zoltan, Matricardi, Laura, Maxwell, Kara N, Mebirouk, Noura, Meindl, Alfons, Montagna, Marco, Monteiro, Alvaro N, Morrison, Patrick J, Muranen, Taru A, Murray, Alex, Nathanson, Katherine L, Neuhausen, Susan L, Nevanlinna, Heli, Nguyen-Dumont, Tu, Niederacher, Dieter, Olah, Edith, Olopade, Olufunmilayo I, Palli, Domenico, Parsons, Michael T, Pedersen, Inge Sokilde, Peissel, Bernard, Perez-Segura, Pedro, Peterlongo, Paolo, Petersen, Annabeth H, Pinto, Pedro, Porteous, Mary E, Pottinger, Caroline, Pujana, Miquel Angel, Radice, Paolo, Ramser, Juliane, Rantala, Johanna, Robson, Mark, Rogers, Mark T, Rønlund, Karina, Rump, Andreas, Sánchez de Abajo, Ana María, Shah, Payal D, Sharif, Saba, Side, Lucy E, Singer, Christian F, Stadler, Zsofia, Steele, Linda, Stoppa-Lyonnet, Dominique, Sutter, Christian, Tan, Yen Yen, Teixeira, Manuel R, Teulé, Alex, Thull, Darcy L, Tischkowitz, Marc, Toland, Amanda E, Tommasi, Stefania, Toss, Angela, Trainer, Alison H, Tripathi, Vishakha, Valentini, Virginia, van Asperen, Christi J, Venturelli, Marta, Viel, Alessandra, Vijai, Joseph, Walker, Lisa, Wang-Gohrke, Shan, Wappenschmidt, Barbara, Whaite, Anna, Zanna, Ines, Offit, Kenneth, Thomassen, Mads, Couch, Fergus J, Schmutzler, Rita K, Simard, Jacques, Easton, Douglas F, Chenevix-Trench, Georgia, Antoniou, Antonis C, Ottini, Laura

Source: Journal of the National Cancer Institute. 114(1):109-122

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100138872295.0x000001&indx=1&recIds=ETOCvdc_100138872295.0x000001

Polygenic risk scores stratify breast cancer risk among women with benign breast disease.

Authors: Sherman, Mark E, Winham, Stacey J, Vierkant, Robert A, McCauley, Bryan M, Scott, Christopher G, Schrup, Sarah, Gaudet, Mia M, Troester, Melissa A, Pruthi, Sandhya, Radisky, Derek C, Degnim, Amy C, Couch, Fergus J, Bolla, Manjeet K, Wang, Qin, Dennis, Joe, Michailidou, Kyriaki, Guenel, Pascal, Truong, Therese, Chang-Claude, Jenny, Obi, Nadia

Source: JNCI: Journal of the National Cancer Institute; Mar2025, Vol. 117 Issue 3, p456-464, 9p

Risks of breast and ovarian cancer for women harboring pathogenic missense variants in BRCA1 and BRCA2 compared with those harboring protein truncating variants

Authors: Li, Hongyan, Engel, Christoph, de la Hoya, Miguel, Peterlongo, Paolo, Yannoukakos, Drakoulis, Livraghi, Luca, Radice, Paolo, Thomassen, Mads, Hansen, Thomas V.O., Gerdes, Anne-Marie, Nielsen, Henriette R., Caputo, Sandrine M., Zambelli, Alberto, Borg, Ake, Solano, Angela, Thomas, Abigail, Parsons, Michael T., Antoniou, Antonis C., Leslie, Goska, Yang, Xin, Chenevix-Trench, Georgia, Caldes, Trinidad, Kwong, Ava, Pedersen, Inge Søkilde, Lautrup, Charlotte K., John, Esther M., Terry, Mary Beth, Hopper, John L., Southey, Melissa C., Andrulis, Irene L., Tischkowitz, Marc, Janavicius, Ramunas, Boonen, Susanne E., Kroeldrup, Lone, Varesco, Liliana, Hamann, Ute, Vega, Ana, Palmero, Edenir I., Garber, Judy, Montagna, Marco, Van Asperen, Christi J., Foretova, Lenka, Greene, Mark H., Selkirk, Tina, Moller, Pal, Toland, Amanda E., Domchek, Susan M., James, Paul A., Thorne, Heather, Eccles, Diana M., Nielsen, Sarah M., Manoukian, Siranoush, Pasini, Barbara, Caligo, Maria A., Lazaro, Conxi, Kirk, Judy, Wappenschmidt, Barbara, Spurdle, Amanda B., Couch, Fergus J., Schmutzler, Rita, Goldgar, David E.

Source: In Genetics in Medicine January 2022 24(1):119-129

The predictive ability of the 313 variant–based polygenic risk score for contralateral breast cancer risk prediction in women of European ancestry with a heterozygous BRCA1 or BRCA2 pathogenic variant

Authors: Lakeman, Inge M.M., van den Broek, Alexandra J., Vos, Juliën A.M., Barnes, Daniel R., Adlard, Julian, Andrulis, Irene L., Arason, Adalgeir, Arnold, Norbert, Arun, Banu K., Balmaña, Judith, Barrowdale, Daniel, Benitez, Javier, Borg, Ake, Caldés, Trinidad, Caligo, Maria A., Chung, Wendy K., Claes, Kathleen B.M., Barouk-Simonet, Emmanuelle, Belotti, Muriel, Berthet, Pascaline, Bignon, Yves-Jean, Bonadona, Valérie, Bressac-de Paillerets, Brigitte, Buecher, Bruno, Caputo, Sandrine, Caron, Olivier, Castera, Laurent, Caux-Moncoutier, Virginie, Colas, Chrystelle, Collonge-Rame, Marie-Agnès, Coupier, Isabelle, de Pauw, Antoine, Delnatte, Capucine, Elan, Camille, Faivre, Laurence, Ferrer, Sandra Fert, Gauthier-Villars, Marion, Gesta, Paul, Giraud, Sophie, Golmard, Lisa, Houdayer, Claude, Lasset, Christine, Laurent, Maïté, Leroux, Dominique, Longy, Michel, Mari, Véronique, Mazoyer, Sylvie, Mebirouk, Noura, Mortemousque, Isabelle, Prieur, Fabienne, Pujol, Pascal, Saule, Claire, Schuster, Helene, Sevenet, Nicolas, Sobol, Hagay, Sokolowska, Johanna, Venat-Bouvet, Laurence, Ahmed, Munaza, Barwell, Julian, Brady, Angela, Brennan, Paul, Brewer, Carole, Cook, Jackie, Davidson, Rosemarie, Donaldson, Alan, Dunning, Alison M., Eason, Jacqueline, Eccles, Diana M., Gregory, Helen, Hanson, Helen, Harrington, Patricia A., Henderson, Alex, Hodgson, Shirley, Kennedy, M. John, Lalloo, Fiona, Miller, Clare, Morrison, Patrick J., Ong, Kai-ren, O’Shaughnessy-Kirwan, Aoife, Perkins, Jo, Porteous, Mary E., Rogers, Mark T., Side, Lucy E., Snape, Katie, Walker, Lisa, Collée, J. Margriet, Couch, Fergus J., Daly, Mary B., Dennis, Joe, Dhawan, Mallika, Domchek, Susan M., Eeles, Ros, Engel, Christoph, Evans, D. Gareth, Feliubadaló, Lidia, Foretova, Lenka, Friedman, Eitan, Frost, Debra, Ganz, Patricia A., Garber, Judy, Gayther, Simon A., Gerdes, Anne-Marie, Godwin, Andrew K., Goldgar, David E., Hahnen, Eric, Hake, Christopher R., Hamann, Ute, Hogervorst, Frans B.L., Hooning, Maartje J., Hopper, John L., Hulick, Peter J., Imyanitov, Evgeny N., Glendon, Gord, Mulligan, Anna Marie, van Asperen, Christi J., Aalfs, Cora M., Adank, Muriel A., Ausems, Margreet G.E.M., Blok, Marinus J., Gómez Garcia, Encarna B., Heemskerk-Gerritsen, Bernadette A.M., Hollestelle, Antoinette, Jager, Agnes, Koppert, Linetta B., Koudijs, Marco, Kriege, Mieke, Meijers-Heijboer, Hanne E.J., Mensenkamp, Arjen R., Mooij, Thea M., Oosterwijk, Jan C., van den Ouweland, Ans M.W., van der Baan, Frederieke H., van der Hout, Annemieke H., van der Kolk, Lizet E., van der Luijt, Rob B., van Deurzen, Carolien H.M., van Doorn, Helena C., van Engelen, Klaartje, van Hest, Liselotte P., van Os, Theo A.M., Verhoef, Senno, Vogel, Maartje J., Wijnen, Juul T., Beesley, Jonathan, Fox, Stephen, Holland, Helene, Phillips, Kelly-Anne, Spurdle, Amanda B., Isaacs, Claudine, Izatt, Louise, Jakubowska, Anna, James, Paul A., Janavicius, Ramunas, Jensen, Uffe Birk, Jiao, Yue, John, Esther M., Joseph, Vijai, Karlan, Beth Y., Kets, Carolien M., Konstantopoulou, Irene, Kwong, Ava, Legrand, Clémentine, Leslie, Goska, Lesueur, Fabienne, Loud, Jennifer T., Lubiński, Jan, Manoukian, Siranoush, McGuffog, Lesley, Miller, Austin, Gomes, Denise Molina, Montagna, Marco, Mouret-Fourme, Emmanuelle, Nathanson, Katherine L., Neuhausen, Susan L., Nevanlinna, Heli, Yie, Joanne Ngeow Yuen, Olah, Edith, Olopade, Olufunmilayo I., Park, Sue K., Parsons, Michael T., Peterlongo, Paolo, Piedmonte, Marion, Radice, Paolo, Rantala, Johanna, Rennert, Gad, Risch, Harvey A., Schmutzler, Rita K., Sharma, Priyanka, Simard, Jacques, Singer, Christian F., Stadler, Zsofia, Stoppa-Lyonnet, Dominique, Sutter, Christian, Tan, Yen Yen, Teixeira, Manuel R., Teo, Soo Hwang, Teulé, Alex, Thomassen, Mads, Thull, Darcy L., Tischkowitz, Marc, Toland, Amanda E., Tung, Nadine, van Rensburg, Elizabeth J., Vega, Ana, Wappenschmidt, Barbara, Devilee, Peter, Bernstein, Jonine L., Offit, Kenneth, Easton, Douglas F., Rookus, Matti A., Chenevix-Trench, Georgia, Antoniou, Antonis C., Robson, Mark, Schmidt, Marjanka K.

Source: In Genetics in Medicine September 2021 23(9):1726-1737

Clinical effectiveness of olaparib monotherapy in germline BRCA-mutated, HER2-negative metastatic breast cancer in a real-world setting: phase IIIb LUCY interim analysis

Authors: Timcheva, Constanta, Tomova, Antoaneta, Eisen, Andrea, Gelmon, Karen, Lemieux, Julie, Bazan, Fernando, Bourgeois, Hugues, Chakiba, Camille, Chehimi, Mohamad, Dalenc, Florence, De La Motte Rouge, Thibault, Frenel, Jean-Sébastien, Gonçalves, Anthony, Hardy-Bessard, Anne Claire, Lamy, Regine, Levy, Christelle, Lortholary, Alain, Mailliez, Audrey, Medioni, Jacques, Patsouris, Anne, Spaeth, Dominique, Teixeira, Luis, Tennevet, Isabelle, Villanueva, Cristian, You, Benoit, Ettl, Johannes, Gerber, Bernd, Hoffmann, Oliver, Park-Simon, Tjoung-Won, Reinisch, Mattea, Tio, Joke, Wimberger, Pauline, Boer, Katalin, Ballestrero, Alberto, Bianchini, Giampaolo, Biganzoli, Laura, Bordonaro, Roberto, Cognetti, Francesco, De Laurentiis, Michelino, De Placido, Sabino, Guarneri, Valentina, Montemurro, Filippo, Naso, Giuseppe, Santoro, Armando, Zamagni, Claudio, Kim, Seung-Jin, Nakamura, Seigo, Chae, Yee Soo, Cho, Eun Kyung, Hyun, Kim Jee, Im, Seock-Ah, Lee, Keun Seok, Park, Yeon Hee, Sohn, Joo Hyuk, Byrski, Tomasz, Huzarski, Tomasz, Kukielka-Budny, Bozena, Nowecki, Zbigniew, Szoszkiewicz, Renata, Tarnawski, Rafal, Dvornichenko, Viktoria, Moiseenko, Fedor, Mukhametshina, Guzel, Poddubskaya, Elena, Popova, Ekaterina, Tarasova, Anna, Vats, Anna, Adamo, Bárbara, Conejero, Raquel Andrés, Torres, Antonio Antón, Gelpi, Judith Balmaña, Fernández, Nieves Díaz, González, Alejandro Falcón, Garcia, Juan, Lorenzo-Lorenzo, Isabel, Antón, Fernando Moreno, Santisteban, Marta, Stradella, Agostina, Huang, Chiun-Sheng, Aksoy, Sercan, Arslan, Cagatay, Artac, Mehmet, Aydiner, Adnan, Ozyilkan, Ozgur, Sezer, Emel, Armstrong, Anne, Barrett, Sophie, Borley, Annabel, Kemp, Zoe, Michie, Caroline, Mukesh, Mukesh, Perren, Timothy, Swampillai, Angela, Young, Tammy, Gelmon, Karen A., Fasching, Peter A., Couch, Fergus J., Balmaña, Judith, Delaloge, Suzette, Labidi-Galy, Intidhar, Bennett, James, McCutcheon, Susan, Walker, Graham, O'Shaughnessy, Joyce

Source: In European Journal of Cancer July 2021 152:68-77

PP2A and E3 ubiquitin ligase deficiencies: Seminal biological drivers in endometrial cancer

Authors: Gonzalez-Bosquet, Jesus, Bakkum-Gamez, Jamie N., Weaver, Amy L., McGree, Michaela E., Dowdy, Sean C., Famuyide, Abimbola O., Kipp, Benjamin R., Halling, Kevin C., Couch, Fergus J., Podratz, Karl C.

Source: In Gynecologic Oncology July 2021 162(1):182-189

Functional annotation of the 2q35 breast cancer risk locus implicates a structural variant in influencing activity of a long-range enhancer element

Authors: Baxter, Joseph S., Johnson, Nichola, Tomczyk, Katarzyna, Gillespie, Andrea, Maguire, Sarah, Brough, Rachel, Fachal, Laura, Michailidou, Kyriaki, Bolla, Manjeet K., Wang, Qin, Dennis, Joe, Ahearn, Thomas U., Andrulis, Irene L., Anton-Culver, Hoda, Antonenkova, Natalia N., Arndt, Volker, Aronson, Kristan J., Augustinsson, Annelie, Becher, Heiko, Beckmann, Matthias W., Behrens, Sabine, Benitez, Javier, Bermisheva, Marina, Bogdanova, Natalia V., Bojesen, Stig E., Brenner, Hermann, Brucker, Sara Y., Cai, Qiuyin, Campa, Daniele, Canzian, Federico, Castelao, Jose E., Chan, Tsun L., Chang-Claude, Jenny, Chanock, Stephen J., Chenevix-Trench, Georgia, Choi, Ji-Yeob, Clarke, Christine L., Colonna, Sarah, Conroy, Don M., Couch, Fergus J., Cox, Angela, Cross, Simon S., Czene, Kamila, Daly, Mary B., Devilee, Peter, Dörk, Thilo, Dossus, Laure, Dwek, Miriam, Eccles, Diana M., Ekici, Arif B., Eliassen, A. Heather, Engel, Christoph, Fasching, Peter A., Figueroa, Jonine, Flyger, Henrik, Gago-Dominguez, Manuela, Gao, Chi, García-Closas, Montserrat, García-Sáenz, José A., Ghoussaini, Maya, Giles, Graham G., Goldberg, Mark S., González-Neira, Anna, Guénel, Pascal, Gündert, Melanie, Haeberle, Lothar, Hahnen, Eric, Haiman, Christopher A., Hall, Per, Hamann, Ute, Hartman, Mikael, Hatse, Sigrid, Hauke, Jan, Hollestelle, Antoinette, Hoppe, Reiner, Hopper, John L., Hou, Ming-Feng, Ito, Hidemi, Iwasaki, Motoki, Jager, Agnes, Jakubowska, Anna, Janni, Wolfgang, John, Esther M., Joseph, Vijai, Jung, Audrey, Kaaks, Rudolf, Kang, Daehee, Keeman, Renske, Khusnutdinova, Elza, Kim, Sung-Won, Kosma, Veli-Matti, Kraft, Peter, Kristensen, Vessela N., Kubelka-Sabit, Katerina, Kurian, Allison W., Kwong, Ava, Lacey, James V., Lambrechts, Diether, Larson, Nicole L., Larsson, Susanna C., Le Marchand, Loic, Lejbkowicz, Flavio, Li, Jingmei, Long, Jirong, Lophatananon, Artitaya, Lubiński, Jan, Mannermaa, Arto, Manoochehri, Mehdi, Manoukian, Siranoush, Margolin, Sara, Matsuo, Keitaro, Mavroudis, Dimitrios, Mayes, Rebecca, Menon, Usha, Milne, Roger L., Mohd Taib, Nur Aishah, Muir, Kenneth, Muranen, Taru A., Murphy, Rachel A., Nevanlinna, Heli, O’Brien, Katie M., Offit, Kenneth, Olson, Janet E., Olsson, Håkan, Park, Sue K., Park-Simon, Tjoung-Won, Patel, Alpa V., Peterlongo, Paolo, Peto, Julian, Plaseska-Karanfilska, Dijana, Presneau, Nadege, Pylkäs, Katri, Rack, Brigitte, Rennert, Gad, Romero, Atocha, Ruebner, Matthias, Rüdiger, Thomas, Saloustros, Emmanouil, Sandler, Dale P., Sawyer, Elinor J., Schmidt, Marjanka K., Schmutzler, Rita K., Schneeweiss, Andreas, Schoemaker, Minouk J., Shah, Mitul, Shen, Chen-Yang, Shu, Xiao-Ou, Simard, Jacques, Southey, Melissa C., Stone, Jennifer, Surowy, Harald, Swerdlow, Anthony J., Tamimi, Rulla M., Tapper, William J., Taylor, Jack A., Teo, Soo Hwang, Teras, Lauren R., Terry, Mary Beth, Toland, Amanda E., Tomlinson, Ian, Truong, Thérèse, Tseng, Chiu-Chen, Untch, Michael, Vachon, Celine M., van den Ouweland, Ans M.W., Wang, Sophia S., Weinberg, Clarice R., Wendt, Camilla, Winham, Stacey J., Winqvist, Robert, Wolk, Alicja, Wu, Anna H., Yamaji, Taiki, Zheng, Wei, Ziogas, Argyrios, Pharoah, Paul D.P., Dunning, Alison M., Easton, Douglas F., Pettitt, Stephen J., Lord, Christopher J., Haider, Syed, Orr, Nick, Fletcher, Olivia

Source: In The American Journal of Human Genetics 1 July 2021 108(7):1190-1203