Results 31 to 40 of about 104,745 (290)

Limited Independent Follow-Up with Germline Testing of Variants Detected in BRCA1 and BRCA2 by Tumor-Only Sequencing [PDF]

Journal of Immunotherapy and Precision Oncology
Introduction Genomic profiling is performed in patients with advanced or metastatic cancer, in order to direct cancer treatment, often sequencing tumor-only, without a matched germline comparator.
Carol J. Nowlen, Molly Daniels, Burak Uzunparmak, Ecaterina E. Ileana Dumbrava, Ying Yuan, Keyur P. Patel, Nadine Rayes, Jacqueline Harkenrider, Chetna Wathoo, Jennifer Veazie, Krystle A. Luna, Wanlin Wang, Chacha Horombe, Milind Javle, Jordi Rodon Ahnert, Timothy A. Yap, Banu Arun, Karen H. Lu, Funda Meric-Bernstam   +18 more
doaj   +1 more source

BRCA2 polymorphic stop codon K3326X and the risk of breast, prostate, and ovarian cancers [PDF]

, 2016
Background: The K3326X variant in BRCA2 (BRCA2*c.9976A>T; p.Lys3326*; rs11571833) has been found to be associated with small increased risks of breast cancer.
Agnarsson, Bjarni A., Aittomäki, Kristiina, Andrulis, Irene L., Anton-Culver, Hoda, Antoniou, Antonis C., Bandera, Elisa V., Banerjee, Susana, Barile, Monica, Barrowdale, Daniel, Beckman, Matthias W., Beeghly-Fadiel, Alicia, Benitez, Javier, Berchuck, Andrew, Bjorge, Line, Blomqvist, Carl, Bogdanova, Natalia V., Bojesen, Stig E., Bolla, Manjeet K., Borg, Ake, Borresen-Dale, Anne-Lise, Brauch, Hiltrud, Brenner, Hermann, Broeks, Annegien, Bruinsma, Fiona, Brunet, Joan, Brüning, Thomas, Burwinkel, Barbara, Butterbach, Katja, Butzow, Ralf, Buys, Saundra S., Cai, Hui, Campbell, Ian G., Cannioto, Rikki, Castillo, Danielle, Chan, Salina B., Chang-Claude, Jenny, Chenevix-Trench, Georgia, Claes, Kathleen B. M., Collavoli, Anita, Cook, Linda S., Couch, Fergus J., Cox, Angela, Cramer, Daniel, Cross, Simon S., Cunningham, Julie M., Czene, Kamila, Daly, Mary B., Damiola, Francesca, Darabi, Hatef, de la Hoya, Miguel, Dennis, Joe, Devilee, Peter, Diez, Orland, Ding, Yuan Chun, Doherty, Jennifer A., Domchek, Susan M., Dorfling, Cecilia M., Dunning, Alison M., Dörk, Thilo, Easton, Douglas F., Eccles, Diana M., Ellis, Steve, Eunjung, Lee, Fasching, Peter A., Feng, Bingjian, Figueroa, Jonine, Flesch-Janys, Dieter, Fletcher, Olivia, Flyger, Henrik, Foretova, Lenka, Fostira, Florentia, Friedman, Eitan, Frost, Debra, Ganz, Patricia N., Gao, Yu-Tang, Garber, Judy, García-Closas, Montserrat, Gayther, Simon, Gerdes, Anne-Marie, Giles, Graham G., Glasspool, Rosalind, Godwin, Andrew K., Goldberg, Mark S., Goldgar, David E., González-Neira, Anna, Goode, Ellen L., Goodman, Marc T., Greene, Mark H., Gronwald, Jacek, Guénel, Pascal, Hahnen, Eric, Haiman, Christopher A., Hall, Per, Hallberg, Emily, Hamann, Ute, Hansen, Thomas V. O., Hart, Steven N., Healey, Sue, Heitz, Florian, Henderson, Brian E., Henriksson, Karin, Hildebrant, Michelle A. T., Hogdall, Claus, Hogdall, Estrid, Hogervorst, Frans B. L., Hopper, John L., Hosono, Satoyo, Hulick, Peter J., Imyanitov, Evgeny N., Isaacs, Claudine, Jakubowska, Anna, James, Paul A., Janavicius, Ramunas, Jensen, Allen, John, Esther M., Johnson, Nichola, Jones, Michael, Kabisch, Maria, Karlan, Beth Y., Khan, Sofia, Kiemeney, Lambertus A., Kjaer, Susanne K., Knight, Julia A., Konstantopoulou, Irene, Koppert, Linetta B., Kosma, Veli-Matti, Kristensen, Vessela, Kupryjanczyk, Jolanta, Kwong, Ava, Laitman, Yael, Lambrechts, Diether, Lazaro, Conxi, Le, Nhu, Lester, Jenny, Levine, Douglas, Li, Jingmei, Liang, Dong, Lindblom, Annika, Loud, Jennifer T., Lu, Karen H., Lubinski, Jan, Mai, Phuong L., Mannermaa, Arto, Manoukian, Siranoush, Margolin, Sara, Marme, Frederik, Massuger, Leon F. A. G., Matsuo, Keitaro, Maugard, Christine, Mazoyer, Sylvie, McGuffog, Lesley, McNeish, Iain, Meeks, Huong D., Meindl, Alfons, Menon, Usha, Michailidou, Kyriaki, Milne, Roger L., Modugno, Francesmary, Moes-Sosnowska, Joanna, Montagna, Marco, Monteiro, Alvaro N. A., Moysich, Kirsten B., Narod, Steven, Nathanson, Katherine L., Ness, Roberta, Neuhausen, Susan L., Nevanlinna, Heli, Neven, Patrick, Nussbaum, Robert L., Offit, Kenneth, Olah, Edith, Oliani, Cristina, Olopade, Olufunmilayo I., Olson, Janet E., Olson, Sara H., Osorio, Ana, Park, Sue K., Pasini, Barbara J., Pearce, Leigh, Pedersen, Inge Sokilde, Peissel, Bernard, Peixoto, Ana, Pejovic, Tanja, Pelttari, Liisa M., Peterlongo, Paolo, Pharoah, Paul D. P., Phelan, Catherine M., Piedmonte, Marion, Poole, Elizabeth M., Pylkäs, Katri, Radice, Paolo, Ramus, Susan J., Rantala, Johanna, Rappaport-Feurhauser, Christine, Rennert, Gad, Riboli, Elio, Risch, Harvey, Robson, Mark, Rossing, Mary Anne, Rudolph, Anja, Salvesen, Helga B., Sawyer, Elinor J., Schildkraut, Joellen, Schmidt, Marjanka K., Schoemaker, Minouk J., Segura, Pedro Perez, Senter, Leigha, Shah, Mitul, Shimelis, Hermela, Siddiquil, Nadeem, Sieh, Weiva, Simard, Jacques, Singer, Christian F., Sinilnikova, Olga M., Slager, Susan, Song, Honglin, Soucy, Penny, Southey, Melissa C., Spurdle, Amanda B., Stoppa-Lyonnet, Dominique, Swerdlow, Anthony, Teixeira, Manuel R., Teo, Soo Hwang, Terry, Kathryn L., Terry, Mary Beth, Tesoriero, Andrea, Thomassen, Mads, Thompson, Pamela J., Tihomirova, Laima, Tischkowitz, Marc, Tollenaar, Robert A. E. M., Tomlinson, Ian, Torres, Diana, Truong, Thérèse, Tucker, Kathy, Tung, Nadine, Tworoger, Shelley S., van der Ouweland, Ans M. W., Van Maerken, Tom, van Rensburg, Elizabeth J., Varon-Mateeva, Raymonda, Viel, Alessandra, Wang, Qin, Wappenschmidt, Barbara, Weitzel, Jeffrey N., Wentzensen, Nicolas, Whittermore, Alice S., Winqvist, Robert, Woo, Yin Ling, Wu, Anna, Yoon, Sook-Yee, Zheng, Wei, Öfverholm, Anna   +252 more
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Dramatic response to local radiotherapy in a refractory metastatic mediastinal yolk sac tumor patient harboring a germline BRCA2 frameshift mutation: a case report

Cancer Biology & Therapy, 2022
Mediastinal yolk sac tumors (YSTs) are highly aggressive germ cell tumors with an extremely poor prognosis. Radiotherapy plays an important role in the treatment of mediastinal YSTs. To maximize benefit from radiotherapy in patients with mediastinal YSTs,
Xi Cheng, Haiming Yu, Jinying Li, Xiaona Han, Erhong Meng, Houqing Zhou, Dongliang Wang, Beifang Niu, Xiaotao Zhang   +8 more
doaj   +1 more source

PALB2 self-interaction controls homologous recombination. [PDF]

, 2012
PALB2 is essential for BRCA2 anchorage to nuclear structures and for homologous recombinational repair of DNA double-strand breaks. Here, we report that the N-terminal coiled-coil motif of PALB2 regulates its self-association and homologous recombination.
Buisson, Rémi, Masson, Jean-Yves
core   +1 more source

Improvement in risk prediction, early detection and prevention of breast cancer in the NHS Breast Screening Programme and family history clinics: a dual cohort study

Programme Grants for Applied Research, 2016
Background: In the UK, women are invited for 3-yearly mammography screening, through the NHS Breast Screening Programme (NHSBSP), from the ages of 47–50 years to the ages of 69–73 years.
D Gareth Evans, Susan Astley, Paula Stavrinos, Elaine Harkness, Louise S Donnelly, Sarah Dawe, Ian Jacob, Michelle Harvie, Jack Cuzick, Adam Brentnall, Mary Wilson, Fiona Harrison, Katherine Payne, Anthony Howell   +13 more
doaj   +1 more source

A mitochondrial response to oxidative stress mediated by unscheduled RNA-DNA hybrids (R-loops)

Molecular & Cellular Oncology, 2021
How oxidative stress promotes aging-related human diseases like cancer and neurodegeneration remains unclear. Here, we discuss the origins and implications of an oxidative-stress response recently reported to destabilize the mitochondrial (mt) genome via
Xavier Renaudin, Ashok R. Venkitaraman
doaj   +1 more source

BRCA1/2 Expression Patterns in Different Grades of Oral Squamous Cell Carcinoma [PDF]

Middle East Journal of Cancer, 2020
Background: Oral squamous cell carcinoma (OSCC) is the sixth most common cancer worldwide and has a poor prognosis. The breast cancer 1 (BRCA1) and breast cancer 2 (BRCA2) genes are the key tumor suppressor genes responding in the cases of DNA damage ...
Soussan Irani, Mitra Rafizadeh
doaj   +1 more source

Founder mutations in Nepalese population [PDF]

Journal of Pathology and Translational Medicine, 2022
Background Founder mutation is a heritable genetic alteration observed with high frequency in a geographically and culturally isolated population where one or more ancestors becomes the forebearer of the altered gene.
Anurag Mehta, Himanshi Diwan, Garima Gupta, Shrinidhi Nathany, Shalini Agnihotri, Surender Dhanda   +5 more
doaj   +1 more source

Complex-based analysis of dysregulated cellular processes in cancer [PDF]

, 2014
Background: Differential expression analysis of (individual) genes is often used to study their roles in diseases. However, diseases such as cancer are a result of the combined effect of multiple genes.
Khanna, Kum Kum, Liu, Chao, Madhamshettiwar, Piyush B., Ragan, Mark A., Simpson, Peter T., Song, Sarah, Srihari, Sriganesh   +6 more
core   +1 more source

A Multicenter Study of Genotype Variation/Demographic Patterns in 2475 Individuals Including 1444 Cases With Breast Cancer in Turkey

European Journal of Breast Health, 2023
Objective:Breast cancer (BC) is the most common cancer type in women and may be inherited, mostly in an autosomal dominant pattern. The clinical diagnosis of BC relies on the published diagnostic criteria, and analysis of two genes, BRCA1 and BRCA2 ...
Ibrahim Boga, Sebnem Ozemri Sag, Nilgun Duman, Sevda Yesim Ozdemir, Mahmut Cerkez Ergoren, Kubilay Dalci, Cem Mujde, Cem Kaan Parsak, Cagla Rencuzogullari, Ozge Sonmezler, Orcun Yalav, Adem Alemdar, Lamiya Aliyeva, Ozlem Bozkurt, Sibel Cetintas, Erdem Cubukcu, Adem Deligonul, Berkcan Dogan, Cemre Ornek Erguzeloglu, Turkkan Evrensel, Sehsuvar Gokgoz, Kazim Senol, Sahsine Tolunay, Esra Akyurek, Neslihan Basgoz, Nuriye Gökçe, Bilge Dundar, Figen Ozturk, Duygu Taskin, Mercan Demirtas, Murat Cag, Omer Diker, Polat Olgun, Sevcan Tug Bozdogan, Munis Dundar, Atil Bisgin, Sehime Gulsun Temel   +36 more
doaj   +1 more source