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3. A prospective prostate cancer screening programme for men with pathogenic variants in mismatch repair genes (IMPACT): initial results from an international prospective study

Author

Adams, Lisa, Adlard, Julian, Alfonso, Rosa, Ali, Saira, Andrew, Angela, Araújo, Luís, Azam, Nazya, Ball, Darran, Barker, Queenstone, Basevitch, Alon, Benton, Barbara, Berlin, Cheryl, Bermingham, Nicola, Biller, Leah, Bloss, Angela, Bradford, Matilda, Bradshaw, Nicola, Branson, Amy, Brendler, Charles, Brennan, Maria, Bulman, Barbara, Burgess, Lucy, Cahill, Declan, Callard, Alice, Calvo Verges, Nuria, Cardoso, Marta, Carter, Vanda, Catanzaro, Mario, Chamberlain, Anthony, Chapman, Cyril, Chong, Michael, Clark, Caroline, Clowes, Virginia, Cogley, Lyn, Cole, Trevor, Compton, Cecilia, Conner, Tom, Cookson, Sandra, Cornford, Philip, Costello, Philandra, Coulier, Laura, Davies, Michaela, Dechet, Christopher, DeSouza, Bianca, Devlin, Gemma, Douglas, Fiona, Douglas, Emma, Dudakia, Darshna, Duncan, Alexis, Ellery, Natalie, Everest, Sarah, Freemantle, Sue, Frydenberg, Mark, Fuller, Debbie, Gabriel, Camila, Gale, Madeline, Garcia, Lynda, Gay, Simona, Genova, Elena, George, Angela, Georgiou, Demetra, Gisbert, Alexandra, Gleeson, Margaret, Glover, Wayne, Gnanapragasam, Vincent, Goff, Sally, Goldgar, David, Gonçalves, Nuno, Goodman, Selina, Gorrie, Jennifer, Gott, Hannah, Grant, Anna, Gray, Catherine, Griffiths, Julie, Gupwell, Karin, Gurasashvili, Jana, Hanslien, Eldbjørg, Haraldsdottir, Sigurdis, Hart, Rachel, Hartigan, Catherine, Hawkes, Lara, Heaton, Tricia, Henderson, Alex, Henrique, Rui, Hilario, Kathrine, Hill, Kathryn, Hulick, Peter, Hunt, Clare, Hutchings, Melanie, Ibitoye, Rita, Inglehearn, Thomas, Ireland, Joanna, Islam, Farah, Ismail, Siti, Jacobs, Chris, James, Denzil, Jenkins, Sharon, Jobson, Irene, Johnstone, Anne, Jones, Oliver, Josefsberg Ben-Yehoshua, Sagi, Kaemba, Beckie, Kaul, Karen, Kemp, Zoe, Kinsella, Netty, Klehm, Margaret, Kockelbergh, Roger, Kohut, Kelly, Kosicka-Slawinska, Monika, Kulkarni, Anjana, Kumar, Pardeep, Lam, Jimmy, LeButt, Mandy, Leibovici, Dan, Lim, Ramona, Limb, Lauren, Lomas, Claire, Longmuir, Mark, López, Consol, Magnani, Tiziana, Maia, Sofia, Maiden, Jessica, Male, Alison, Manalo, Merrie, Martin, Phoebe, McBride, Donna, McGuire, Michael, McMahon, Romayne, McNally, Claire, McVeigh, Terri, Melzer, Ehud, Mencias, Mark, Mercer, Catherine, Mitchell, Gillian, Mora, Josefina, Morton, Catherine, Moss, Cathryn, Murphy, Morgan, Murphy, Declan, Mzazi, Shumi, Nadolski, Maria, Newlin, Anna, Nogueira, Pedro, O'Keefe, Rachael, O'Toole, Karen, O'Connell, Shona, Ogden, Chris, Okoth, Linda, Oliveira, Jorge, Paez, Edgar, Palou, Joan, Park, Linda, Patel, Nafisa, Paulo Souto, João, Pearce, Allison, Peixoto, Ana, Perez, Kimberley, Petelin, Lara, Pichert, Gabriella, Poile, Charlotte, Potter, Alison, Preitner, Nadia, Purnell, Helen, Quinn, Ellen, Radice, Paolo, Rankin, Brigette, Rees, Katie, Renton, Caroline, Richardson, Kate, Risby, Peter, Rogers, Jason, Ruderman, Maggie, Ruiz, April, Sajoo, Anaar, Salvatore, Natale, Sands, Victoria, Sanguedolce, Francesco, Sattar, Ayisha, Saunders, Kathryn, Schofield, Lyn, Scott, Rodney, Searle, Anne, Sehra, Ravinder, Selkirk, Christina, Shackleton, Kylie, Shanley, Sue, Shaw, Adam, Shevrin, Daniel, Shipman, Hannah, Sidat, Zahirah, Siguake, Kas, Simon, Kate, Smyth, Courtney, Snadden, Lesley, Solanky, Nita, Solomons, Joyce, Sorrentino, Margherita, Stayner, Barbara, Stephenson, Robert, Stoffel, Elena, Thomas, Maggie, Thompson, Alan, Tidey, Lizzie, Tischkowitz, Marc, Torokwa, Audrey, Townshend, Sharron, Treherne, Katy, Tricker, Karen, Trinh, Quoc-Dien, Tripathi, Vishakha, Turnbull, Clare, Valdagni, Riccardo, Van As, Nicholas, Venne, Vickie, Verdon, Lizzie, Vitellaro, Marco, Vogel, Kristen, Walker, Lisa, Watford, Amy, Watt, Cathy, Weintroub, Ilana, Weiss, Shelly, Weissman, Scott, Weston, Michelle, Wiggins, Jennifer, Wise, Gillian, Woodhouse, Christopher, Yesildag, Pembe, Youngs, Alice, Yurgelun, Matthew, Zollo, Fabiana, Bancroft, Elizabeth K, Page, Elizabeth C, Brook, Mark N, Thomas, Sarah, Taylor, Natalie, Pope, Jennifer, McHugh, Jana, Jones, Ann-Britt, Karlsson, Questa, Merson, Susan, Ong, Kai Ren, Hoffman, Jonathan, Huber, Camilla, Maehle, Lovise, Grindedal, Eli Marie, Stormorken, Astrid, Evans, D Gareth, Rothwell, Jeanette, Lalloo, Fiona, Brady, Angela F, Bartlett, Marion, Snape, Katie, Hanson, Helen, James, Paul, McKinley, Joanne, Mascarenhas, Lyon, Syngal, Sapna, Ukaegbu, Chinedu, Side, Lucy, Thomas, Tessy, Barwell, Julian, Teixeira, Manuel R, Izatt, Louise, Suri, Mohnish, Macrae, Finlay A, Poplawski, Nicola, Chen-Shtoyerman, Rakefet, Ahmed, Munaza, Musgrave, Hannah, Nicolai, Nicola, Greenhalgh, Lynn, Brewer, Carole, Pachter, Nicholas, Spigelman, Allan D, Azzabi, Ashraf, Helfand, Brian T, Halliday, Dorothy, Buys, Saundra, Ramon y Cajal, Teresa, Donaldson, Alan, Cooney, Kathleen A, Harris, Marion, McGrath, John, Davidson, Rosemarie, Taylor, Amy, Cooke, Peter, Myhill, Kathryn, Hogben, Matthew, Aaronson, Neil K, Ardern-Jones, Audrey, Bangma, Chris H, Castro, Elena, Dearnaley, David, Dias, Alexander, Dudderidge, Tim, Eccles, Diana M, Green, Kate, Eyfjord, Jorunn, Falconer, Alison, Foster, Christopher S, Gronberg, Henrik, Hamdy, Freddie C, Johannsson, Oskar, Khoo, Vincent, Lilja, Hans, Lindeman, Geoffrey J, Lubinski, Jan, Axcrona, Karol, Mikropoulos, Christos, Mitra, Anita V, Moynihan, Clare, Ni Raghallaigh, Holly, Rennert, Gad, Collier, Rebecca, Offman, Judith, Kote-Jarai, Zsofia, and Eeles, Rosalind A

Published
2021
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4. Male breast cancer in BRCA1 and BRCA2 mutation carriers: pathology data from the Consortium of Investigators of Modifiers of BRCA1/2

Author

Silvestri, Valentina, Barrowdale, Daniel, Mulligan, Anna Marie, Neuhausen, Susan L, Fox, Stephen, Karlan, Beth Y, Mitchell, Gillian, James, Paul, Thull, Darcy L, Zorn, Kristin K, Carter, Natalie J, Nathanson, Katherine L, Domchek, Susan M, Rebbeck, Timothy R, Ramus, Susan J, Nussbaum, Robert L, Olopade, Olufunmilayo I, Rantala, Johanna, Yoon, Sook-Yee, Caligo, Maria A, Spugnesi, Laura, Bojesen, Anders, Pedersen, Inge Sokilde, Thomassen, Mads, Jensen, Uffe Birk, Toland, Amanda Ewart, Senter, Leigha, Andrulis, Irene L, Glendon, Gord, Hulick, Peter J, Imyanitov, Evgeny N, Greene, Mark H, Mai, Phuong L, Singer, Christian F, Rappaport-Fuerhauser, Christine, Kramer, Gero, Vijai, Joseph, Offit, Kenneth, Robson, Mark, Lincoln, Anne, Jacobs, Lauren, Machackova, Eva, Foretova, Lenka, Navratilova, Marie, Vasickova, Petra, Couch, Fergus J, Hallberg, Emily, Ruddy, Kathryn J, Sharma, Priyanka, Kim, Sung-Won, kConFab Investigators, Teixeira, Manuel R, Pinto, Pedro, Montagna, Marco, Matricardi, Laura, Arason, Adalgeir, Johannsson, Oskar Th, Barkardottir, Rosa B, Jakubowska, Anna, Lubinski, Jan, Izquierdo, Angel, Pujana, Miguel Angel, Balmaña, Judith, Diez, Orland, Ivady, Gabriella, Papp, Janos, Olah, Edith, Kwong, Ava, Hereditary Breast and Ovarian Cancer Research Group Netherlands (HEBON), Nevanlinna, Heli, Aittomäki, Kristiina, Perez Segura, Pedro, Caldes, Trinidad, Van Maerken, Tom, Poppe, Bruce, Claes, Kathleen BM, Isaacs, Claudine, Elan, Camille, Lasset, Christine, Stoppa-Lyonnet, Dominique, Barjhoux, Laure, Belotti, Muriel, Meindl, Alfons, Gehrig, Andrea, Sutter, Christian, Engel, Christoph, Niederacher, Dieter, Steinemann, Doris, Hahnen, Eric, Kast, Karin, Arnold, Norbert, Varon-Mateeva, Raymonda, Wand, Dorothea, Godwin, Andrew K, Evans, D Gareth, Frost, Debra, Perkins, Jo, Adlard, Julian, Izatt, Louise, and Platte, Radka

Subjects
Biomedical and Clinical Sciences, Clinical Sciences, Oncology and Carcinogenesis, Breast Cancer, Cancer, 2.1 Biological and endogenous factors, Aetiology, Adult, Aged, BRCA1 Protein, BRCA2 Protein, Breast Neoplasms, Breast Neoplasms, Male, Female, Genetic Predisposition to Disease, Humans, Male, Middle Aged, Mutation, Neoplasm Staging, Polymorphism, Single Nucleotide, Male breast cancer, BRCA1/2, Pathology, Histologic grade, Genotype-phenotype correlations, kConFab Investigators, Hereditary Breast and Ovarian Cancer Research Group Netherlands, EMBRACE, Oncology & Carcinogenesis, Oncology and carcinogenesis
Abstract

BackgroundBRCA1 and, more commonly, BRCA2 mutations are associated with increased risk of male breast cancer (MBC). However, only a paucity of data exists on the pathology of breast cancers (BCs) in men with BRCA1/2 mutations. Using the largest available dataset, we determined whether MBCs arising in BRCA1/2 mutation carriers display specific pathologic features and whether these features differ from those of BRCA1/2 female BCs (FBCs).MethodsWe characterised the pathologic features of 419 BRCA1/2 MBCs and, using logistic regression analysis, contrasted those with data from 9675 BRCA1/2 FBCs and with population-based data from 6351 MBCs in the Surveillance, Epidemiology, and End Results (SEER) database.ResultsAmong BRCA2 MBCs, grade significantly decreased with increasing age at diagnosis (P = 0.005). Compared with BRCA2 FBCs, BRCA2 MBCs were of significantly higher stage (P for trend = 2 × 10(-5)) and higher grade (P for trend = 0.005) and were more likely to be oestrogen receptor-positive [odds ratio (OR) 10.59; 95 % confidence interval (CI) 5.15-21.80] and progesterone receptor-positive (OR 5.04; 95 % CI 3.17-8.04). With the exception of grade, similar patterns of associations emerged when we compared BRCA1 MBCs and FBCs. BRCA2 MBCs also presented with higher grade than MBCs from the SEER database (P for trend = 4 × 10(-12)).ConclusionsOn the basis of the largest series analysed to date, our results show that BRCA1/2 MBCs display distinct pathologic characteristics compared with BRCA1/2 FBCs, and we identified a specific BRCA2-associated MBC phenotype characterised by a variable suggesting greater biological aggressiveness (i.e., high histologic grade). These findings could lead to the development of gender-specific risk prediction models and guide clinical strategies appropriate for MBC management.

Published
2016

5. Inheritance of deleterious mutations at both BRCA1 and BRCA2 in an international sample of 32,295 women.

Author

Rebbeck, Timothy R, Friebel, Tara M, Mitra, Nandita, Wan, Fei, Chen, Stephanie, Andrulis, Irene L, Apostolou, Paraskevi, Arnold, Norbert, Arun, Banu K, Barrowdale, Daniel, Benitez, Javier, Berger, Raanan, Berthet, Pascaline, Borg, Ake, Buys, Saundra S, Caldes, Trinidad, Carter, Jonathan, Chiquette, Jocelyne, Claes, Kathleen BM, Couch, Fergus J, Cybulski, Cezary, Daly, Mary B, de la Hoya, Miguel, Diez, Orland, Domchek, Susan M, Nathanson, Katherine L, Durda, Katarzyna, Ellis, Steve, EMBRACE, Evans, D Gareth, Foretova, Lenka, Friedman, Eitan, Frost, Debra, Ganz, Patricia A, Garber, Judy, Glendon, Gord, Godwin, Andrew K, Greene, Mark H, Gronwald, Jacek, Hahnen, Eric, Hallberg, Emily, Hamann, Ute, Hansen, Thomas VO, HEBON, Imyanitov, Evgeny N, Isaacs, Claudine, Jakubowska, Anna, Janavicius, Ramunas, Jaworska-Bieniek, Katarzyna, John, Esther M, Karlan, Beth Y, Kaufman, Bella, Investigators, KConFab, Kwong, Ava, Laitman, Yael, Lasset, Christine, Lazaro, Conxi, Lester, Jenny, Loman, Niklas, Lubinski, Jan, Manoukian, Siranoush, Mitchell, Gillian, Montagna, Marco, Neuhausen, Susan L, Nevanlinna, Heli, Niederacher, Dieter, Nussbaum, Robert L, Offit, Kenneth, Olah, Edith, Olopade, Olufunmilayo I, Park, Sue Kyung, Piedmonte, Marion, Radice, Paolo, Rappaport-Fuerhauser, Christine, Rookus, Matti A, Seynaeve, Caroline, Simard, Jacques, Singer, Christian F, Soucy, Penny, Southey, Melissa, Stoppa-Lyonnet, Dominique, Sukiennicki, Grzegorz, Szabo, Csilla I, Tancredi, Mariella, Teixeira, Manuel R, Teo, Soo-Hwang, Terry, Mary Beth, Thomassen, Mads, Tihomirova, Laima, Tischkowitz, Marc, Toland, Amanda Ewart, Toloczko-Grabarek, Aleksandra, Tung, Nadine, van Rensburg, Elizabeth J, Villano, Danylo, Wang-Gohrke, Shan, Wappenschmidt, Barbara, Weitzel, Jeffrey N, Zidan, Jamal, and Zorn, Kristin K

Subjects
EMBRACE, HEBON, Humans, Breast Neoplasms, Population Surveillance, Heterozygote, Phenotype, Loss of Heterozygosity, Germ-Line Mutation, Alleles, Genes, BRCA1, Genes, BRCA2, Exons, Female, Promoter Regions, Genetic, BRCA1, BRCA2, Hereditary breast and ovarian cancer, Transheterozygosity, Genes, Promoter Regions, Genetic, Clinical Research, Breast Cancer, Cancer, 2.1 Biological and endogenous factors, Oncology & Carcinogenesis, Oncology and Carcinogenesis
Abstract

BackgroundMost BRCA1 or BRCA2 mutation carriers have inherited a single (heterozygous) mutation. Transheterozygotes (TH) who have inherited deleterious mutations in both BRCA1 and BRCA2 are rare, and the consequences of transheterozygosity are poorly understood.MethodsFrom 32,295 female BRCA1/2 mutation carriers, we identified 93 TH (0.3 %). "Cases" were defined as TH, and "controls" were single mutations at BRCA1 (SH1) or BRCA2 (SH2). Matched SH1 "controls" carried a BRCA1 mutation found in the TH "case". Matched SH2 "controls" carried a BRCA2 mutation found in the TH "case". After matching the TH carriers with SH1 or SH2, 91 TH were matched to 9316 SH1, and 89 TH were matched to 3370 SH2.ResultsThe majority of TH (45.2 %) involved the three common Jewish mutations. TH were more likely than SH1 and SH2 women to have been ever diagnosed with breast cancer (BC; p = 0.002). TH were more likely to be diagnosed with ovarian cancer (OC) than SH2 (p = 0.017), but not SH1. Age at BC diagnosis was the same in TH vs. SH1 (p = 0.231), but was on average 4.5 years younger in TH than in SH2 (p

Published
2016

6. An international survey of surveillance schemes for unaffected BRCA1 and BRCA2 mutation carriers

Author

Madorsky-Feldman, Dana, Sklair-Levy, Miri, Perri, Tamar, Laitman, Yael, Paluch-Shimon, Shani, Schmutzler, Rita, Rhiem, Kerstin, Lester, Jenny, Karlan, Beth Y, Singer, Christian F, Van Maerken, Tom, Claes, Kathleen, Brunet, Joan, Izquierdo, Angel, Teulé, Alex, Lee, Jong Won, Kim, Sung-Won, Arun, Banu, Jakubowska, Anna, Lubinski, Jan, Tucker, Katherine, Poplawski, Nicola K, Varesco, Liliana, Bonelli, Luigina Ada, Buys, Saundra S, Mitchell, Gillian, Tischkowitz, Marc, Gerdes, Anne-Marie, Seynaeve, Caroline, Robson, Mark, Kwong, Ava, Tung, Nadine, Tessa, Nalven, Domchek, Susan M, Godwin, Andrew K, Rantala, Johanna, Arver, Brita, and Friedman, Eitan

Subjects
Biomedical and Clinical Sciences, Oncology and Carcinogenesis, Cancer, Ovarian Cancer, Biomedical Imaging, Clinical Research, Rare Diseases, Breast Cancer, Prevention, Adult, BRCA1 Protein, BRCA2 Protein, Breast Neoplasms, Evidence-Based Medicine, Female, Humans, Magnetic Resonance Imaging, Mutation, Ovarian Neoplasms, Practice Guidelines as Topic, Prophylactic Mastectomy, Prophylactic Surgical Procedures, Prospective Studies, Surveys and Questionnaires, Young Adult, BRCA1/BRCA2 mutation carriers, High-risk women, Early detection, Risk-reducing surgery, Surveillance schemes, Clinical Sciences, Oncology & Carcinogenesis, Clinical sciences, Oncology and carcinogenesis
Abstract

Female BRCA1/BRCA2 mutation carriers are at substantially increased risk for developing breast and/or ovarian cancer, and are offered enhanced surveillance including screening from a young age and risk-reducing surgery (RRS)-mastectomy (RRM) and/or salpingo-oophorectomy (RRSO). While there are established guidelines for early detection of breast cancer in high-risk women who have not undergone RRM, there are less developed guidelines after RRM. We evaluated the schemes offered before and after RRS in internationally diverse high-risk clinics. An e-mailed survey was distributed to high-risk clinics affiliated with CIMBA. Overall, 22 centers from 16 countries responded. Pre RRS surveillance schemes overwhelmingly included breast imaging (primarily MRI) from 18 to 30 years and clinical breast exam (CBE) at 6-12 month intervals. For ovarian cancer, all but 6 centers offered semiannual/annual gynecological exam, transvaginal ultrasound, and CA 125 measurements. Post RRM, most centers offered only annual CBE while 4 centers offered annual MRI, primarily for substantial residual breast tissue. After RRSO only 4 centers offered specific gynecological surveillance. Existing guidelines for breast/ovarian cancer detection in BRCA carriers are being applied pre RRS but are not globally harmonized, and most centers offer no specific surveillance post RRS. From this comprehensive multinational study it is clear that evidence-based, long-term prospective data on the most effective scheme for BRCA carriers post RRS is needed.

Published
2016

7. No evidence that protein truncating variants in BRIP1 are associated with breast cancer risk: implications for gene panel testing.

Author

Easton, Douglas F, Lesueur, Fabienne, Decker, Brennan, Michailidou, Kyriaki, Li, Jun, Allen, Jamie, Luccarini, Craig, Pooley, Karen A, Shah, Mitul, Bolla, Manjeet K, Wang, Qin, Dennis, Joe, Ahmad, Jamil, Thompson, Ella R, Damiola, Francesca, Pertesi, Maroulio, Voegele, Catherine, Mebirouk, Noura, Robinot, Nivonirina, Durand, Geoffroy, Forey, Nathalie, Luben, Robert N, Ahmed, Shahana, Aittomäki, Kristiina, Anton-Culver, Hoda, Arndt, Volker, Australian Ovarian Cancer Study Group, Baynes, Caroline, Beckman, Matthias W, Benitez, Javier, Van Den Berg, David, Blot, William J, Bogdanova, Natalia V, Bojesen, Stig E, Brenner, Hermann, Chang-Claude, Jenny, Chia, Kee Seng, Choi, Ji-Yeob, Conroy, Don M, Cox, Angela, Cross, Simon S, Czene, Kamila, Darabi, Hatef, Devilee, Peter, Eriksson, Mikael, Fasching, Peter A, Figueroa, Jonine, Flyger, Henrik, Fostira, Florentia, García-Closas, Montserrat, Giles, Graham G, Glendon, Gord, González-Neira, Anna, Guénel, Pascal, Haiman, Christopher A, Hall, Per, Hart, Steven N, Hartman, Mikael, Hooning, Maartje J, Hsiung, Chia-Ni, Ito, Hidemi, Jakubowska, Anna, James, Paul A, John, Esther M, Johnson, Nichola, Jones, Michael, Kabisch, Maria, Kang, Daehee, kConFab Investigators, Kosma, Veli-Matti, Kristensen, Vessela, Lambrechts, Diether, Li, Na, Lifepool Investigators, Lindblom, Annika, Long, Jirong, Lophatananon, Artitaya, Lubinski, Jan, Mannermaa, Arto, Manoukian, Siranoush, Margolin, Sara, Matsuo, Keitaro, Meindl, Alfons, Mitchell, Gillian, Muir, Kenneth, NBCS Investigators, Nevelsteen, Ines, van den Ouweland, Ans, Peterlongo, Paolo, Phuah, Sze Yee, Pylkäs, Katri, Rowley, Simone M, Sangrajrang, Suleeporn, Schmutzler, Rita K, Shen, Chen-Yang, Shu, Xiao-Ou, Southey, Melissa C, Surowy, Harald, Swerdlow, Anthony, and Teo, Soo H

Subjects
Australian Ovarian Cancer Study Group, kConFab Investigators, Lifepool Investigators, NBCS Investigators, Humans, Breast Neoplasms, Genetic Predisposition to Disease, RNA Helicases, DNA-Binding Proteins, Risk, Cohort Studies, Mutation, Adult, Aged, Middle Aged, European Continental Ancestry Group, Female, Fanconi Anemia Complementation Group Proteins, Genetic Association Studies, Cancer: breast, Genetics & Heredity, Biological Sciences, Medical and Health Sciences
Abstract

BACKGROUND:BRCA1 interacting protein C-terminal helicase 1 (BRIP1) is one of the Fanconi Anaemia Complementation (FANC) group family of DNA repair proteins. Biallelic mutations in BRIP1 are responsible for FANC group J, and previous studies have also suggested that rare protein truncating variants in BRIP1 are associated with an increased risk of breast cancer. These studies have led to inclusion of BRIP1 on targeted sequencing panels for breast cancer risk prediction. METHODS:We evaluated a truncating variant, p.Arg798Ter (rs137852986), and 10 missense variants of BRIP1, in 48 144 cases and 43 607 controls of European origin, drawn from 41 studies participating in the Breast Cancer Association Consortium (BCAC). Additionally, we sequenced the coding regions of BRIP1 in 13 213 cases and 5242 controls from the UK, 1313 cases and 1123 controls from three population-based studies as part of the Breast Cancer Family Registry, and 1853 familial cases and 2001 controls from Australia. RESULTS:The rare truncating allele of rs137852986 was observed in 23 cases and 18 controls in Europeans in BCAC (OR 1.09, 95% CI 0.58 to 2.03, p=0.79). Truncating variants were found in the sequencing studies in 34 cases (0.21%) and 19 controls (0.23%) (combined OR 0.90, 95% CI 0.48 to 1.70, p=0.75). CONCLUSIONS:These results suggest that truncating variants in BRIP1, and in particular p.Arg798Ter, are not associated with a substantial increase in breast cancer risk. Such observations have important implications for the reporting of results from breast cancer screening panels.

Published
2016

8. Germline Mutations in the BRIP1, BARD1, PALB2, and NBN Genes in Women With Ovarian Cancer.

Author

Ramus, Susan J, Song, Honglin, Dicks, Ed, Tyrer, Jonathan P, Rosenthal, Adam N, Intermaggio, Maria P, Fraser, Lindsay, Gentry-Maharaj, Aleksandra, Hayward, Jane, Philpott, Susan, Anderson, Christopher, Edlund, Christopher K, Conti, David, Harrington, Patricia, Barrowdale, Daniel, Bowtell, David D, Alsop, Kathryn, Mitchell, Gillian, AOCS Study Group, Cicek, Mine S, Cunningham, Julie M, Fridley, Brooke L, Alsop, Jennifer, Jimenez-Linan, Mercedes, Poblete, Samantha, Lele, Shashi, Sucheston-Campbell, Lara, Moysich, Kirsten B, Sieh, Weiva, McGuire, Valerie, Lester, Jenny, Bogdanova, Natalia, Dürst, Matthias, Hillemanns, Peter, Ovarian Cancer Association Consortium, Odunsi, Kunle, Whittemore, Alice S, Karlan, Beth Y, Dörk, Thilo, Goode, Ellen L, Menon, Usha, Jacobs, Ian J, Antoniou, Antonis C, Pharoah, Paul DP, and Gayther, Simon A

Subjects
AOCS Study Group, Ovarian Cancer Association Consortium, Humans, Neoplasms, Glandular and Epithelial, Ovarian Neoplasms, Genetic Predisposition to Disease, Ubiquitin-Protein Ligases, RNA Helicases, Cell Cycle Proteins, DNA-Binding Proteins, Tumor Suppressor Proteins, Nuclear Proteins, Risk, Predictive Value of Tests, Germ-Line Mutation, Mutation, Missense, Adult, Aged, Middle Aged, European Continental Ancestry Group, United States, Female, Fanconi Anemia Complementation Group Proteins, High-Throughput Nucleotide Sequencing, Fanconi Anemia Complementation Group N Protein, Carcinoma, Ovarian Epithelial, Oncology & Carcinogenesis, Oncology and Carcinogenesis
Abstract

BACKGROUND:Epithelial ovarian cancer (EOC) is the most lethal gynecological malignancy, responsible for 13 000 deaths per year in the United States. Risk prediction based on identifying germline mutations in ovarian cancer susceptibility genes could have a clinically significant impact on reducing disease mortality. METHODS:Next generation sequencing was used to identify germline mutations in the coding regions of four candidate susceptibility genes-BRIP1, BARD1, PALB2 and NBN-in 3236 invasive EOC case patients and 3431 control patients of European origin, and in 2000 unaffected high-risk women from a clinical screening trial of ovarian cancer (UKFOCSS). For each gene, we estimated the prevalence and EOC risks and evaluated associations between germline variant status and clinical and epidemiological risk factor information. All statistical tests were two-sided. RESULTS:We found an increased frequency of deleterious mutations in BRIP1 in case patients (0.9%) and in the UKFOCSS participants (0.6%) compared with control patients (0.09%) (P = 1 x 10(-4) and 8 x 10(-4), respectively), but no differences for BARD1 (P = .39), NBN1 ( P = .61), or PALB2 (P = .08). There was also a difference in the frequency of rare missense variants in BRIP1 between case patients and control patients (P = 5.5 x 10(-4)). The relative risks associated with BRIP1 mutations were 11.22 for invasive EOC (95% confidence interval [CI] = 3.22 to 34.10, P = 1 x 10(-4)) and 14.09 for high-grade serous disease (95% CI = 4.04 to 45.02, P = 2 x 10(-5)). Segregation analysis in families estimated the average relative risks in BRIP1 mutation carriers compared with the general population to be 3.41 (95% CI = 2.12 to 5.54, P = 7×10(-7)). CONCLUSIONS:Deleterious germline mutations in BRIP1 are associated with a moderate increase in EOC risk. These data have clinical implications for risk prediction and prevention approaches for ovarian cancer and emphasize the critical need for risk estimates based on very large sample sizes before genes of moderate penetrance have clinical utility in cancer prevention.

Published
2015

10. Association of type and location of BRCA1 and BRCA2 mutations with risk of breast and ovarian cancer.

Author

Rebbeck, Timothy R, Mitra, Nandita, Wan, Fei, Sinilnikova, Olga M, Healey, Sue, McGuffog, Lesley, Mazoyer, Sylvie, Chenevix-Trench, Georgia, Easton, Douglas F, Antoniou, Antonis C, Nathanson, Katherine L, CIMBA Consortium, Laitman, Yael, Kushnir, Anya, Paluch-Shimon, Shani, Berger, Raanan, Zidan, Jamal, Friedman, Eitan, Ehrencrona, Hans, Stenmark-Askmalm, Marie, Einbeigi, Zakaria, Loman, Niklas, Harbst, Katja, Rantala, Johanna, Melin, Beatrice, Huo, Dezheng, Olopade, Olufunmilayo I, Seldon, Joyce, Ganz, Patricia A, Nussbaum, Robert L, Chan, Salina B, Odunsi, Kunle, Gayther, Simon A, Domchek, Susan M, Arun, Banu K, Lu, Karen H, Mitchell, Gillian, Karlan, Beth Y, Walsh, Christine, Lester, Jenny, Godwin, Andrew K, Pathak, Harsh, Ross, Eric, Daly, Mary B, Whittemore, Alice S, John, Esther M, Miron, Alexander, Terry, Mary Beth, Chung, Wendy K, Goldgar, David E, Buys, Saundra S, Janavicius, Ramunas, Tihomirova, Laima, Tung, Nadine, Dorfling, Cecilia M, van Rensburg, Elizabeth J, Steele, Linda, Neuhausen, Susan L, Ding, Yuan Chun, Ejlertsen, Bent, Gerdes, Anne-Marie, Hansen, Thomas VO, Ramón y Cajal, Teresa, Osorio, Ana, Benitez, Javier, Godino, Javier, Tejada, Maria-Isabel, Duran, Mercedes, Weitzel, Jeffrey N, Bobolis, Kristie A, Sand, Sharon R, Fontaine, Annette, Savarese, Antonella, Pasini, Barbara, Peissel, Bernard, Bonanni, Bernardo, Zaffaroni, Daniela, Vignolo-Lutati, Francesca, Scuvera, Giulietta, Giannini, Giuseppe, Bernard, Loris, Genuardi, Maurizio, Radice, Paolo, Dolcetti, Riccardo, Manoukian, Siranoush, Pensotti, Valeria, Gismondi, Viviana, Yannoukakos, Drakoulis, Fostira, Florentia, Garber, Judy, Torres, Diana, Rashid, Muhammad Usman, Hamann, Ute, Peock, Susan, Frost, Debra, Platte, Radka, Evans, D Gareth, Eeles, Rosalind, Davidson, Rosemarie, and Eccles, Diana

Subjects
CIMBA Consortium, Humans, Breast Neoplasms, Ovarian Neoplasms, Genetic Predisposition to Disease, Nucleotides, Risk Factors, Age of Onset, Heterozygote, Mutation, Genes, BRCA1, Genes, BRCA2, Adult, Middle Aged, Female, Cancer, Prevention, Rare Diseases, Breast Cancer, Clinical Research, Ovarian Cancer, General & Internal Medicine, Medical and Health Sciences
Abstract

ImportanceLimited information about the relationship between specific mutations in BRCA1 or BRCA2 (BRCA1/2) and cancer risk exists.ObjectiveTo identify mutation-specific cancer risks for carriers of BRCA1/2.Design, setting, and participantsObservational study of women who were ascertained between 1937 and 2011 (median, 1999) and found to carry disease-associated BRCA1 or BRCA2 mutations. The international sample comprised 19,581 carriers of BRCA1 mutations and 11,900 carriers of BRCA2 mutations from 55 centers in 33 countries on 6 continents. We estimated hazard ratios for breast and ovarian cancer based on mutation type, function, and nucleotide position. We also estimated RHR, the ratio of breast vs ovarian cancer hazard ratios. A value of RHR greater than 1 indicated elevated breast cancer risk; a value of RHR less than 1 indicated elevated ovarian cancer risk.ExposuresMutations of BRCA1 or BRCA2.Main outcomes and measuresBreast and ovarian cancer risks.ResultsAmong BRCA1 mutation carriers, 9052 women (46%) were diagnosed with breast cancer, 2317 (12%) with ovarian cancer, 1041 (5%) with breast and ovarian cancer, and 7171 (37%) without cancer. Among BRCA2 mutation carriers, 6180 women (52%) were diagnosed with breast cancer, 682 (6%) with ovarian cancer, 272 (2%) with breast and ovarian cancer, and 4766 (40%) without cancer. In BRCA1, we identified 3 breast cancer cluster regions (BCCRs) located at c.179 to c.505 (BCCR1; RHR = 1.46; 95% CI, 1.22-1.74; P = 2 × 10(-6)), c.4328 to c.4945 (BCCR2; RHR = 1.34; 95% CI, 1.01-1.78; P = .04), and c. 5261 to c.5563 (BCCR2', RHR = 1.38; 95% CI, 1.22-1.55; P = 6 × 10(-9)). We also identified an ovarian cancer cluster region (OCCR) from c.1380 to c.4062 (approximately exon 11) with RHR = 0.62 (95% CI, 0.56-0.70; P = 9 × 10(-17)). In BRCA2, we observed multiple BCCRs spanning c.1 to c.596 (BCCR1; RHR = 1.71; 95% CI, 1.06-2.78; P = .03), c.772 to c.1806 (BCCR1'; RHR = 1.63; 95% CI, 1.10-2.40; P = .01), and c.7394 to c.8904 (BCCR2; RHR = 2.31; 95% CI, 1.69-3.16; P = .00002). We also identified 3 OCCRs: the first (OCCR1) spanned c.3249 to c.5681 that was adjacent to c.5946delT (6174delT; RHR = 0.51; 95% CI, 0.44-0.60; P = 6 × 10(-17)). The second OCCR spanned c.6645 to c.7471 (OCCR2; RHR = 0.57; 95% CI, 0.41-0.80; P = .001). Mutations conferring nonsense-mediated decay were associated with differential breast or ovarian cancer risks and an earlier age of breast cancer diagnosis for both BRCA1 and BRCA2 mutation carriers.Conclusions and relevanceBreast and ovarian cancer risks varied by type and location of BRCA1/2 mutations. With appropriate validation, these data may have implications for risk assessment and cancer prevention decision making for carriers of BRCA1 and BRCA2 mutations.

Published
2015

11. Germline Mutation in BRCA1 or BRCA2 and Ten-Year Survival for Women Diagnosed with Epithelial Ovarian Cancer

Author

Candido-dos-Reis, Francisco J, EMBRACE, for, Song, Honglin, Goode, Ellen L, Cunningham, Julie M, Fridley, Brooke L, Larson, Melissa C, Alsop, Kathryn, Dicks, Ed, Harrington, Patricia, Ramus, Susan J, de Fazio, Anna, Mitchell, Gillian, Fereday, Sian, Bolton, Kelly L, Gourley, Charlie, Michie, Caroline, Karlan, Beth, Lester, Jenny, Walsh, Christine, Cass, Ilana, Olsson, Håkan, Gore, Martin, Benitez, Javier J, Garcia, Maria J, Andrulis, Irene, Mulligan, Anna Marie, Glendon, Gord, Blanco, Ignacio, Lazaro, Conxi, Whittemore, Alice S, McGuire, Valerie, Sieh, Weiva, Montagna, Marco, Alducci, Elisa, Sadetzki, Siegal, Chetrit, Angela, Kwong, Ava, Kjaer, Susanne K, Jensen, Allan, Høgdall, Estrid, Neuhausen, Susan, Nussbaum, Robert, Daly, Mary, Greene, Mark H, Mai, Phuong L, Loud, Jennifer T, Moysich, Kirsten, Toland, Amanda E, Lambrechts, Diether, Ellis, Steve, Frost, Debra, Brenton, James D, Tischkowitz, Marc, Easton, Douglas F, Antoniou, Antonis, Chenevix-Trench, Georgia, Gayther, Simon A, Bowtell, David, and Pharoah, Paul DP

Subjects
Ovarian Cancer, Breast Cancer, Rare Diseases, Clinical Research, Genetics, Clinical Trials and Supportive Activities, Cancer, Prevention, Good Health and Well Being, Aged, Carcinoma, Ovarian Epithelial, Female, Genes, BRCA1, Genes, BRCA2, Germ-Line Mutation, Humans, Middle Aged, Neoplasm Grading, Neoplasm Staging, Neoplasms, Glandular and Epithelial, Ovarian Neoplasms, Prognosis, Survival Analysis, for EMBRACE, kConFab Investigators, Australian Ovarian Cancer Study Group, Oncology and Carcinogenesis, Oncology & Carcinogenesis
Abstract

PurposeTo analyze the effect of germline mutations in BRCA1 and BRCA2 on mortality in patients with ovarian cancer up to 10 years after diagnosis.Experimental designWe used unpublished survival time data for 2,242 patients from two case-control studies and extended survival time data for 4,314 patients from previously reported studies. All participants had been screened for deleterious germline mutations in BRCA1 and BRCA2. Survival time was analyzed for the combined data using Cox proportional hazard models with BRCA1 and BRCA2 as time-varying covariates. Competing risks were analyzed using Fine and Gray model.ResultsThe combined 10-year overall survival rate was 30% [95% confidence interval (CI), 28%-31%] for non-carriers, 25% (95% CI, 22%-28%) for BRCA1 carriers, and 35% (95% CI, 30%-41%) for BRCA2 carriers. The HR for BRCA1 was 0.53 at time zero and increased over time becoming greater than one at 4.8 years. For BRCA2, the HR was 0.42 at time zero and increased over time (predicted to become greater than 1 at 10.5 years). The results were similar when restricted to 3,202 patients with high-grade serous tumors and to ovarian cancer-specific mortality.ConclusionsBRCA1/2 mutations are associated with better short-term survival, but this advantage decreases over time and in BRCA1 carriers is eventually reversed. This may have important implications for therapy of both primary and relapsed disease and for analysis of long-term survival in clinical trials of new agents, particularly those that are effective in BRCA1/2 mutation carriers.

Published
2015

15. The Beatles and Sixties Britain: MARCUS COLLINS, Cambridge, Cambridge University Press, 2020, xviii+366 pp., ISBN 978 1 108 47724 6 (hbk) (£90), 9,781,108,708,463 (pbk) (£23.99), 9,781,108,853,668 (ebk) (£16.99).

Author

Mitchell, Gillian

Subjects
*SOCIAL surveys, *SOCIAL attitudes, *ATTITUDE change (Psychology), *CLASS politics, *PUBLIC sphere
Abstract

"The Beatles and Sixties Britain" by Marcus Collins explores the significance of the Beatles in 1960s Britain. The book challenges simplistic interpretations of the group's impact and instead focuses on contemporary writings and pronouncements about the Beatles. The author argues that while the Beatles did not actively transform social attitudes, their music and actions generated discussions about various aspects of British society. The book examines changing attitudes towards the Beatles, from broad support during the early years to increasing criticism as the group's lifestyles and musical ambitions became more unconventional. The final chapters explore the reactions of the cultural sector and politicians to the Beatles, highlighting the complex and varied responses they elicited. Overall, this thoroughly researched book provides a nuanced and valuable contribution to the study of post-war popular music. [Extracted from the article]

Published
2024
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18. Supplementary Table 18 from Nonequivalent Gene Expression and Copy Number Alterations in High-Grade Serous Ovarian Cancers with BRCA1 and BRCA2 Mutations

Author

George, Joshy, primary, Alsop, Kathryn, primary, Etemadmoghadam, Dariush, primary, Hondow, Heather, primary, Mikeska, Thomas, primary, Dobrovic, Alexander, primary, deFazio, Anna, primary, Smyth, Gordon K., primary, Levine, Douglas A., primary, Mitchell, Gillian, primary, and Bowtell, David D., primary

Published
2023
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19. Supplementary Figures 1 - 15 from Nonequivalent Gene Expression and Copy Number Alterations in High-Grade Serous Ovarian Cancers with BRCA1 and BRCA2 Mutations

Author

George, Joshy, primary, Alsop, Kathryn, primary, Etemadmoghadam, Dariush, primary, Hondow, Heather, primary, Mikeska, Thomas, primary, Dobrovic, Alexander, primary, deFazio, Anna, primary, Smyth, Gordon K., primary, Levine, Douglas A., primary, Mitchell, Gillian, primary, and Bowtell, David D., primary

Published
2023
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20. Supplementary Figures 1 - 9 from Profiles of Genomic Instability in High-Grade Serous Ovarian Cancer Predict Treatment Outcome

Author

Wang, Zhigang C., primary, Birkbak, Nicolai Juul, primary, Culhane, Aedín C., primary, Drapkin, Ronny, primary, Fatima, Aquila, primary, Tian, Ruiyang, primary, Schwede, Matthew, primary, Alsop, Kathryn, primary, Daniels, Kathryn E., primary, Piao, Huiying, primary, Liu, Joyce, primary, Etemadmoghadam, Dariush, primary, Miron, Alexander, primary, Salvesen, Helga B., primary, Mitchell, Gillian, primary, DeFazio, Anna, primary, Quackenbush, John, primary, Berkowitz, Ross S., primary, Iglehart, J. Dirk, primary, Bowtell, David D.L., primary, and Matulonis, Ursula A., primary

Published
2023
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21. Supplementary Tables 4 - 8 from Profiles of Genomic Instability in High-Grade Serous Ovarian Cancer Predict Treatment Outcome

Author

Wang, Zhigang C., primary, Birkbak, Nicolai Juul, primary, Culhane, Aedín C., primary, Drapkin, Ronny, primary, Fatima, Aquila, primary, Tian, Ruiyang, primary, Schwede, Matthew, primary, Alsop, Kathryn, primary, Daniels, Kathryn E., primary, Piao, Huiying, primary, Liu, Joyce, primary, Etemadmoghadam, Dariush, primary, Miron, Alexander, primary, Salvesen, Helga B., primary, Mitchell, Gillian, primary, DeFazio, Anna, primary, Quackenbush, John, primary, Berkowitz, Ross S., primary, Iglehart, J. Dirk, primary, Bowtell, David D.L., primary, and Matulonis, Ursula A., primary

Published
2023
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22. Supplementary Methods and Tables 1 - 15, 19 from Nonequivalent Gene Expression and Copy Number Alterations in High-Grade Serous Ovarian Cancers with BRCA1 and BRCA2 Mutations

Author

George, Joshy, primary, Alsop, Kathryn, primary, Etemadmoghadam, Dariush, primary, Hondow, Heather, primary, Mikeska, Thomas, primary, Dobrovic, Alexander, primary, deFazio, Anna, primary, Smyth, Gordon K., primary, Levine, Douglas A., primary, Mitchell, Gillian, primary, and Bowtell, David D., primary

Published
2023
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24. Supplementary Tables 1 - 3 from Profiles of Genomic Instability in High-Grade Serous Ovarian Cancer Predict Treatment Outcome

Author

Wang, Zhigang C., primary, Birkbak, Nicolai Juul, primary, Culhane, Aedín C., primary, Drapkin, Ronny, primary, Fatima, Aquila, primary, Tian, Ruiyang, primary, Schwede, Matthew, primary, Alsop, Kathryn, primary, Daniels, Kathryn E., primary, Piao, Huiying, primary, Liu, Joyce, primary, Etemadmoghadam, Dariush, primary, Miron, Alexander, primary, Salvesen, Helga B., primary, Mitchell, Gillian, primary, DeFazio, Anna, primary, Quackenbush, John, primary, Berkowitz, Ross S., primary, Iglehart, J. Dirk, primary, Bowtell, David D.L., primary, and Matulonis, Ursula A., primary

Published
2023
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26. Monogenic and polygenic determinants of sarcoma risk: an international genetic study

Author

Ballinger, Mandy L, Goode, David L, Ray-Coquard, Isabelle, James, Paul A, Mitchell, Gillian, Niedermayr, Eveline, Puri, Ajay, Schiffman, Joshua D, Dite, Gillian S, Cipponi, Arcadi, Maki, Robert G, Brohl, Andrew S, Myklebost, Ola, Stratford, Eva W, Lorenz, Susanne, Ahn, Sung-Min, Ahn, Jin-Hee, Kim, Jeong Eun, Shanley, Sue, Beshay, Victoria, Randall, Robert Lor, Judson, Ian, Seddon, Beatrice, Campbell, Ian G, Young, Mary-Anne, Sarin, Rajiv, Blay, Jean-Yves, O'Donoghue, Seán I, and Thomas, David M

Published
2016
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28. Efficacy and safety of olaparib monotherapy in germline BRCA1/2 mutation carriers with advanced ovarian cancer and three or more lines of prior therapy

Author

Domchek, Susan M., Aghajanian, Carol, Shapira-Frommer, Ronnie, Schmutzler, Rita K., Audeh, M. William, Friedlander, Michael, Balmaña, Judith, Mitchell, Gillian, Fried, Georgeta, Stemmer, Salomon M., Hubert, Ayala, Rosengarten, Ora, Loman, Niklas, Robertson, Jane D., Mann, Helen, and Kaufman, Bella

Published
2016
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33. Identification of 12 new susceptibility loci for different histotypes of epithelial ovarian cancer

Author

Phelan, Catherine M, Kuchenbaecker, Karoline B, Tyrer, Jonathan P, Kar, Siddhartha P, Lawrenson, Kate, Winham, Stacey J, Dennis, Joe, Pirie, Ailith, Riggan, Marjorie J, Chornokur, Ganna, Earp, Madalene A, Lyra, Jr, Paulo C, Lee, Janet M, Coetzee, Simon, Beesley, Jonathan, McGuffog, Lesley, Soucy, Penny, Dicks, Ed, Lee, Andrew, Barrowdale, Daniel, Lecarpentier, Julie, Leslie, Goska, Aalfs, Cora M, Aben, Katja K H, Adams, Marcia, Adlard, Julian, Andrulis, Irene L, Anton-Culver, Hoda, Antonenkova, Natalia, Aravantinos, Gerasimos, Arnold, Norbert, Arun, Banu K, Arver, Brita, Azzollini, Jacopo, Balmaña, Judith, Banerjee, Susana N, Barjhoux, Laure, Barkardottir, Rosa B, Bean, Yukie, Beckmann, Matthias W, Beeghly-Fadiel, Alicia, Benitez, Javier, Bermisheva, Marina, Bernardini, Marcus Q, Birrer, Michael J, Bjorge, Line, Black, Amanda, Blankstein, Kenneth, Blok, Marinus J, Bodelon, Clara, Bogdanova, Natalia, Bojesen, Anders, Bonanni, Bernardo, Borg, Åke, Bradbury, Angela R, Brenton, James D, Brewer, Carole, Brinton, Louise, Broberg, Per, Brooks-Wilson, Angela, Bruinsma, Fiona, Brunet, Joan, Buecher, Bruno, Butzow, Ralf, Buys, Saundra S, Caldes, Trinidad, Caligo, Maria A, Campbell, Ian, Cannioto, Rikki, Carney, Michael E, Cescon, Terence, Chan, Salina B, Chang-Claude, Jenny, Chanock, Stephen, Chen, Xiao Qing, Chiew, Yoke-Eng, Chiquette, Jocelyne, Chung, Wendy K, Claes, Kathleen B M, Conner, Thomas, Cook, Linda S, Cook, Jackie, Cramer, Daniel W, Cunningham, Julie M, D'Aloisio, Aimee A, Daly, Mary B, Damiola, Francesca, Damirovna, Sakaeva Dina, Dansonka-Mieszkowska, Agnieszka, Dao, Fanny, Davidson, Rosemarie, DeFazio, Anna, Delnatte, Capucine, Doheny, Kimberly F, Diez, Orland, Ding, Yuan Chun, Doherty, Jennifer Anne, Domchek, Susan M, Dorfling, Cecilia M, Dörk, Thilo, Dossus, Laure, Duran, Mercedes, Dürst, Matthias, Dworniczak, Bernd, Eccles, Diana, Edwards, Todd, Eeles, Ros, Eilber, Ursula, Ejlertsen, Bent, Ekici, Arif B, Ellis, Steve, Elvira, Mingajeva, Eng, Kevin H, Engel, Christoph, Evans, D Gareth, Fasching, Peter A, Ferguson, Sarah, Ferrer, Sandra Fert, Flanagan, James M, Fogarty, Zachary C, Fortner, Renée T, Fostira, Florentia, Foulkes, William D, Fountzilas, George, Fridley, Brooke L, Friebel, Tara M, Friedman, Eitan, Frost, Debra, Ganz, Patricia A, Garber, Judy, García, María J, Garcia-Barberan, Vanesa, Gehrig, Andrea, Gentry-Maharaj, Aleksandra, Gerdes, Anne-Marie, Giles, Graham G, Glasspool, Rosalind, Glendon, Gord, Godwin, Andrew K, Goldgar, David E, Goranova, Teodora, Gore, Martin, Greene, Mark H, Gronwald, Jacek, Gruber, Stephen, Hahnen, Eric, Haiman, Christopher A, Håkansson, Niclas, Hamann, Ute, Hansen, Thomas V O, Harrington, Patricia A, Harris, Holly R, Hauke, Jan, Hein, Alexander, Henderson, Alex, Hildebrandt, Michelle A T, Hillemanns, Peter, Hodgson, Shirley, Høgdall, Claus K, Høgdall, Estrid, Hogervorst, Frans B L, Holland, Helene, Hooning, Maartje J, Hosking, Karen, Huang, Ruea-Yea, Hulick, Peter J, Hung, Jillian, Hunter, David J, Huntsman, David G, Huzarski, Tomasz, Imyanitov, Evgeny N, Isaacs, Claudine, Iversen, Edwin S, Izatt, Louise, Izquierdo, Angel, Jakubowska, Anna, James, Paul, Janavicius, Ramunas, Jernetz, Mats, Jensen, Allan, Jensen, Uffe Birk, John, Esther M, Johnatty, Sharon, Jones, Michael E, Kannisto, Päivi, Karlan, Beth Y, Karnezis, Anthony, Kast, Karin, Kennedy, Catherine J, Khusnutdinova, Elza, Kiemeney, Lambertus A, Kiiski, Johanna I, Kim, Sung-Won, Kjaer, Susanne K, Köbel, Martin, Kopperud, Reidun K, Kruse, Torben A, Kupryjanczyk, Jolanta, Kwong, Ava, Laitman, Yael, Lambrechts, Diether, Larrañaga, Nerea, Larson, Melissa C, Lazaro, Conxi, Le, Nhu D, Le Marchand, Loic, Lee, Jong Won, Lele, Shashikant B, Leminen, Arto, Leroux, Dominique, Lester, Jenny, Lesueur, Fabienne, Levine, Douglas A, Liang, Dong, Liebrich, Clemens, Lilyquist, Jenna, Lipworth, Loren, Lissowska, Jolanta, Lu, Karen H, Lubinński, Jan, Luccarini, Craig, Lundvall, Lene, Mai, Phuong L, Mendoza-Fandiño, Gustavo, Manoukian, Siranoush, Massuger, Leon F A G, May, Taymaa, Mazoyer, Sylvie, McAlpine, Jessica N, McGuire, Valerie, McLaughlin, John R, McNeish, Iain, Meijers-Heijboer, Hanne, Meindl, Alfons, Menon, Usha, Mensenkamp, Arjen R, Merritt, Melissa A, Milne, Roger L, Mitchell, Gillian, Modugno, Francesmary, Moes-Sosnowska, Joanna, Moffitt, Melissa, Montagna, Marco, Moysich, Kirsten B, Mulligan, Anna Marie, Musinsky, Jacob, Nathanson, Katherine L, Nedergaard, Lotte, Ness, Roberta B, Neuhausen, Susan L, Nevanlinna, Heli, Niederacher, Dieter, Nussbaum, Robert L, Odunsi, Kunle, Olah, Edith, Olopade, Olufunmilayo I, Olsson, Håkan, Olswold, Curtis, O'Malley, David M, Ong, Kai-ren, Onland-Moret, N Charlotte, Orr, Nicholas, Orsulic, Sandra, Osorio, Ana, Palli, Domenico, Papi, Laura, Park-Simon, Tjoung-Won, Paul, James, Pearce, Celeste L, Pedersen, Inge Søkilde, Peeters, Petra H M, Peissel, Bernard, Peixoto, Ana, Pejovic, Tanja, Pelttari, Liisa M, Permuth, Jennifer B, Peterlongo, Paolo, Pezzani, Lidia, Pfeiler, Georg, Phillips, Kelly-Anne, Piedmonte, Marion, Pike, Malcolm C, Piskorz, Anna M, Poblete, Samantha R, Pocza, Timea, Poole, Elizabeth M, Poppe, Bruce, Porteous, Mary E, Prieur, Fabienne, Prokofyeva, Darya, Pugh, Elizabeth, Pujana, Miquel Angel, Pujol, Pascal, Radice, Paolo, Rantala, Johanna, Rappaport-Fuerhauser, Christine, Rennert, Gad, Rhiem, Kerstin, Rice, Patricia, Richardson, Andrea, Robson, Mark, Rodriguez, Gustavo C, Rodríguez-Antona, Cristina, Romm, Jane, Rookus, Matti A, Rossing, Mary Anne, Rothstein, Joseph H, Rudolph, Anja, Runnebaum, Ingo B, Salvesen, Helga B, Sandler, Dale P, Schoemaker, Minouk J, Senter, Leigha, Setiawan, V Wendy, Severi, Gianluca, Sharma, Priyanka, Shelford, Tameka, Siddiqui, Nadeem, Side, Lucy E, Sieh, Weiva, Singer, Christian F, Sobol, Hagay, Song, Honglin, Southey, Melissa C, Spurdle, Amanda B, Stadler, Zsofia, Steinemann, Doris, Stoppa-Lyonnet, Dominique, Sucheston-Campbell, Lara E, Sukiennicki, Grzegorz, Sutphen, Rebecca, Sutter, Christian, Swerdlow, Anthony J, Szabo, Csilla I, Szafron, Lukasz, Tan, Yen Y, Taylor, Jack A, Tea, Muy-Kheng, Teixeira, Manuel R, Teo, Soo-Hwang, Terry, Kathryn L, Thompson, Pamela J, Thomsen, Liv Cecilie Vestrheim, Thull, Darcy L, Tihomirova, Laima, Tinker, Anna V, Tischkowitz, Marc, Tognazzo, Silvia, Toland, Amanda Ewart, Tone, Alicia, Trabert, Britton, Travis, Ruth C, Trichopoulou, Antonia, Tung, Nadine, Tworoger, Shelley S, van Altena, Anne M, Van Den Berg, David, van der Hout, Annemarie H, van der Luijt, Rob B, Van Heetvelde, Mattias, Van Nieuwenhuysen, Els, van Rensburg, Elizabeth J, Vanderstichele, Adriaan, Varon-Mateeva, Raymonda, Vega, Ana, Edwards, Digna Velez, Vergote, Ignace, Vierkant, Robert A, Vijai, Joseph, Vratimos, Athanassios, Walker, Lisa, Walsh, Christine, Wand, Dorothea, Wang-Gohrke, Shan, Wappenschmidt, Barbara, Webb, Penelope M, Weinberg, Clarice R, Weitzel, Jeffrey N, Wentzensen, Nicolas, Whittemore, Alice S, Wijnen, Juul T, Wilkens, Lynne R, Wolk, Alicja, Woo, Michelle, Wu, Xifeng, Wu, Anna H, Yang, Hannah, Yannoukakos, Drakoulis, Ziogas, Argyrios, Zorn, Kristin K, Narod, Steven A, Easton, Douglas F, Amos, Christopher I, Schildkraut, Joellen M, Ramus, Susan J, Ottini, Laura, Goodman, Marc T, Park, Sue K, Kelemen, Linda E, Risch, Harvey A, Thomassen, Mads, Offit, Kenneth, Simard, Jacques, Schmutzler, Rita Katharina, Hazelett, Dennis, Monteiro, Alvaro N, Couch, Fergus J, Berchuck, Andrew, Chenevix-Trench, Georgia, Goode, Ellen L, Sellers, Thomas A, Gayther, Simon A, Antoniou, Antonis C, and Pharoah, Paul D P

Published
2017
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35. 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, Mæhle, 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, den Enden, Apollonia T. Helderman-van, 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, Ramón 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, and Eeles, Rosalind A.

Published
2014
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38. Synthetic lethality between CCNE1 amplification and loss of BRCA1

Author

Australian Ovarian Cancer Study Group, Etemadmoghadam, Dariush, Weir, Barbara A., Au-Yeung, George, Alsop, Kathryn, Mitchell, Gillian, George, Joshy, Davis, Sally, D'Andrea, Alan D., Simpson, Kaylene, Hahn, William C., and Bowtell, David D. L.

Published
2013

46. A prospective prostate cancer screening programme for men with pathogenic variants in mismatch repair genes (IMPACT): initial results from an international prospective study

Author

Bancroft, Elizabeth K, primary, Page, Elizabeth C, additional, Brook, Mark N, additional, Thomas, Sarah, additional, Taylor, Natalie, additional, Pope, Jennifer, additional, McHugh, Jana, additional, Jones, Ann-Britt, additional, Karlsson, Questa, additional, Merson, Susan, additional, Ong, Kai Ren, additional, Hoffman, Jonathan, additional, Huber, Camilla, additional, Maehle, Lovise, additional, Grindedal, Eli Marie, additional, Stormorken, Astrid, additional, Evans, D Gareth, additional, Rothwell, Jeanette, additional, Lalloo, Fiona, additional, Brady, Angela F, additional, Bartlett, Marion, additional, Snape, Katie, additional, Hanson, Helen, additional, James, Paul, additional, McKinley, Joanne, additional, Mascarenhas, Lyon, additional, Syngal, Sapna, additional, Ukaegbu, Chinedu, additional, Side, Lucy, additional, Thomas, Tessy, additional, Barwell, Julian, additional, Teixeira, Manuel R, additional, Izatt, Louise, additional, Suri, Mohnish, additional, Macrae, Finlay A, additional, Poplawski, Nicola, additional, Chen-Shtoyerman, Rakefet, additional, Ahmed, Munaza, additional, Musgrave, Hannah, additional, Nicolai, Nicola, additional, Greenhalgh, Lynn, additional, Brewer, Carole, additional, Pachter, Nicholas, additional, Spigelman, Allan D, additional, Azzabi, Ashraf, additional, Helfand, Brian T, additional, Halliday, Dorothy, additional, Buys, Saundra, additional, Ramon y Cajal, Teresa, additional, Donaldson, Alan, additional, Cooney, Kathleen A, additional, Harris, Marion, additional, McGrath, John, additional, Davidson, Rosemarie, additional, Taylor, Amy, additional, Cooke, Peter, additional, Myhill, Kathryn, additional, Hogben, Matthew, additional, Aaronson, Neil K, additional, Ardern-Jones, Audrey, additional, Bangma, Chris H, additional, Castro, Elena, additional, Dearnaley, David, additional, Dias, Alexander, additional, Dudderidge, Tim, additional, Eccles, Diana M, additional, Green, Kate, additional, Eyfjord, Jorunn, additional, Falconer, Alison, additional, Foster, Christopher S, additional, Gronberg, Henrik, additional, Hamdy, Freddie C, additional, Johannsson, Oskar, additional, Khoo, Vincent, additional, Lilja, Hans, additional, Lindeman, Geoffrey J, additional, Lubinski, Jan, additional, Axcrona, Karol, additional, Mikropoulos, Christos, additional, Mitra, Anita V, additional, Moynihan, Clare, additional, Ni Raghallaigh, Holly, additional, Rennert, Gad, additional, Collier, Rebecca, additional, Offman, Judith, additional, Kote-Jarai, Zsofia, additional, Eeles, Rosalind A, additional, Adams, Lisa, additional, Adlard, Julian, additional, Alfonso, Rosa, additional, Ali, Saira, additional, Andrew, Angela, additional, Araújo, Luís, additional, Azam, Nazya, additional, Ball, Darran, additional, Barker, Queenstone, additional, Basevitch, Alon, additional, Benton, Barbara, additional, Berlin, Cheryl, additional, Bermingham, Nicola, additional, Biller, Leah, additional, Bloss, Angela, additional, Bradford, Matilda, additional, Bradshaw, Nicola, additional, Branson, Amy, additional, Brendler, Charles, additional, Brennan, Maria, additional, Bulman, Barbara, additional, Burgess, Lucy, additional, Cahill, Declan, additional, Callard, Alice, additional, Calvo Verges, Nuria, additional, Cardoso, Marta, additional, Carter, Vanda, additional, Catanzaro, Mario, additional, Chamberlain, Anthony, additional, Chapman, Cyril, additional, Chong, Michael, additional, Clark, Caroline, additional, Clowes, Virginia, additional, Cogley, Lyn, additional, Cole, Trevor, additional, Compton, Cecilia, additional, Conner, Tom, additional, Cookson, Sandra, additional, Cornford, Philip, additional, Costello, Philandra, additional, Coulier, Laura, additional, Davies, Michaela, additional, Dechet, Christopher, additional, DeSouza, Bianca, additional, Devlin, Gemma, additional, Douglas, Fiona, additional, Douglas, Emma, additional, Dudakia, Darshna, additional, Duncan, Alexis, additional, Ellery, Natalie, additional, Everest, Sarah, additional, Freemantle, Sue, additional, Frydenberg, Mark, additional, Fuller, Debbie, additional, Gabriel, Camila, additional, Gale, Madeline, additional, Garcia, Lynda, additional, Gay, Simona, additional, Genova, Elena, additional, George, Angela, additional, Georgiou, Demetra, additional, Gisbert, Alexandra, additional, Gleeson, Margaret, additional, Glover, Wayne, additional, Gnanapragasam, Vincent, additional, Goff, Sally, additional, Goldgar, David, additional, Gonçalves, Nuno, additional, Goodman, Selina, additional, Gorrie, Jennifer, additional, Gott, Hannah, additional, Grant, Anna, additional, Gray, Catherine, additional, Griffiths, Julie, additional, Gupwell, Karin, additional, Gurasashvili, Jana, additional, Hanslien, Eldbjørg, additional, Haraldsdottir, Sigurdis, additional, Hart, Rachel, additional, Hartigan, Catherine, additional, Hawkes, Lara, additional, Heaton, Tricia, additional, Henderson, Alex, additional, Henrique, Rui, additional, Hilario, Kathrine, additional, Hill, Kathryn, additional, Hulick, Peter, additional, Hunt, Clare, additional, Hutchings, Melanie, additional, Ibitoye, Rita, additional, Inglehearn, Thomas, additional, Ireland, Joanna, additional, Islam, Farah, additional, Ismail, Siti, additional, Jacobs, Chris, additional, James, Denzil, additional, Jenkins, Sharon, additional, Jobson, Irene, additional, Johnstone, Anne, additional, Jones, Oliver, additional, Josefsberg Ben-Yehoshua, Sagi, additional, Kaemba, Beckie, additional, Kaul, Karen, additional, Kemp, Zoe, additional, Kinsella, Netty, additional, Klehm, Margaret, additional, Kockelbergh, Roger, additional, Kohut, Kelly, additional, Kosicka-Slawinska, Monika, additional, Kulkarni, Anjana, additional, Kumar, Pardeep, additional, Lam, Jimmy, additional, LeButt, Mandy, additional, Leibovici, Dan, additional, Lim, Ramona, additional, Limb, Lauren, additional, Lomas, Claire, additional, Longmuir, Mark, additional, López, Consol, additional, Magnani, Tiziana, additional, Maia, Sofia, additional, Maiden, Jessica, additional, Male, Alison, additional, Manalo, Merrie, additional, Martin, Phoebe, additional, McBride, Donna, additional, McGuire, Michael, additional, McMahon, Romayne, additional, McNally, Claire, additional, McVeigh, Terri, additional, Melzer, Ehud, additional, Mencias, Mark, additional, Mercer, Catherine, additional, Mitchell, Gillian, additional, Mora, Josefina, additional, Morton, Catherine, additional, Moss, Cathryn, additional, Murphy, Morgan, additional, Murphy, Declan, additional, Mzazi, Shumi, additional, Nadolski, Maria, additional, Newlin, Anna, additional, Nogueira, Pedro, additional, O'Keefe, Rachael, additional, O'Toole, Karen, additional, O'Connell, Shona, additional, Ogden, Chris, additional, Okoth, Linda, additional, Oliveira, Jorge, additional, Paez, Edgar, additional, Palou, Joan, additional, Park, Linda, additional, Patel, Nafisa, additional, Paulo Souto, João, additional, Pearce, Allison, additional, Peixoto, Ana, additional, Perez, Kimberley, additional, Petelin, Lara, additional, Pichert, Gabriella, additional, Poile, Charlotte, additional, Potter, Alison, additional, Preitner, Nadia, additional, Purnell, Helen, additional, Quinn, Ellen, additional, Radice, Paolo, additional, Rankin, Brigette, additional, Rees, Katie, additional, Renton, Caroline, additional, Richardson, Kate, additional, Risby, Peter, additional, Rogers, Jason, additional, Ruderman, Maggie, additional, Ruiz, April, additional, Sajoo, Anaar, additional, Salvatore, Natale, additional, Sands, Victoria, additional, Sanguedolce, Francesco, additional, Sattar, Ayisha, additional, Saunders, Kathryn, additional, Schofield, Lyn, additional, Scott, Rodney, additional, Searle, Anne, additional, Sehra, Ravinder, additional, Selkirk, Christina, additional, Shackleton, Kylie, additional, Shanley, Sue, additional, Shaw, Adam, additional, Shevrin, Daniel, additional, Shipman, Hannah, additional, Sidat, Zahirah, additional, Siguake, Kas, additional, Simon, Kate, additional, Smyth, Courtney, additional, Snadden, Lesley, additional, Solanky, Nita, additional, Solomons, Joyce, additional, Sorrentino, Margherita, additional, Stayner, Barbara, additional, Stephenson, Robert, additional, Stoffel, Elena, additional, Thomas, Maggie, additional, Thompson, Alan, additional, Tidey, Lizzie, additional, Tischkowitz, Marc, additional, Torokwa, Audrey, additional, Townshend, Sharron, additional, Treherne, Katy, additional, Tricker, Karen, additional, Trinh, Quoc-Dien, additional, Tripathi, Vishakha, additional, Turnbull, Clare, additional, Valdagni, Riccardo, additional, Van As, Nicholas, additional, Venne, Vickie, additional, Verdon, Lizzie, additional, Vitellaro, Marco, additional, Vogel, Kristen, additional, Walker, Lisa, additional, Watford, Amy, additional, Watt, Cathy, additional, Weintroub, Ilana, additional, Weiss, Shelly, additional, Weissman, Scott, additional, Weston, Michelle, additional, Wiggins, Jennifer, additional, Wise, Gillian, additional, Woodhouse, Christopher, additional, Yesildag, Pembe, additional, Youngs, Alice, additional, Yurgelun, Matthew, additional, and Zollo, Fabiana, additional

Published
2021
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