BRCA germline mutations in multiethnic gynecologic patients: A 10-year retrospective analysis from a single cancer institute.
Plos One
Wei, Christina H CH; Shehayeb, Susan S; Santiago, Nicole Lugo NL; Kruper, Laura L; Han, Ernest E; Wang, Edward E; Cristea, Mihaela M; Rodriguez-Rodriguez, Lorna L; Yost, Susan E SE; Stewart, Daphne D
Diagnostic yield of genetic screening in a diverse, community-ascertained cohort.
Genome Medicine
Rao, Nandana D ND; Kaganovsky, Jailanie J; Malouf, Emily A EA; Coe, Sandy S; Huey, Jennifer J; Tsinajinne, Darwin D; Hassan, Sajida S; King, Kristine M KM; Fullerton, Stephanie M SM; Chen, Annie T AT; Shirts, Brian H BH
Molecular diagnostic yield of genome sequencing versus targeted gene panel testing in racially and ethnically diverse pediatric patients.
Medrxiv : The Preprint Server For Health Sciences
Abul-Husn, Noura S NS; Marathe, Priya N PN; Kelly, Nicole R NR; Bonini, Katherine E KE; Sebastin, Monisha M; Odgis, Jacqueline A JA; Abhyankar, Avinash A; Brown, Kaitlyn K; Di Biase, Miranda M; Gallagher, Katie M KM; Guha, Saurav S; Ioele, Nicolette N; Okur, Volkan V; Ramos, Michelle A MA; Rodriguez, Jessica E JE; Rehman, Atteeq U AU; Thomas-Wilson, Amanda A; Edelmann, Lisa L; Zinberg, Randi E RE; Diaz, George A GA; Greally, John M JM; Jobanputra, Vaidehi V; Suckiel, Sabrina A SA; Horowitz, Carol R CR; Wasserstein, Melissa P MP; Kenny, Eimear E EE; Gelb, Bruce D BD
Publication Date: 2023-03-20
Variant appearance in text: APC: 3920T>A; Ile1307Lys
Targeting FGFR Pathway Is Not an Effective Therapeutic Strategy in Patients with Unselected Metastatic Esophagogastric Cancer Resistant to Trastuzumab.
Journal Of Personalized Medicine
Zecchetto, Camilla C; Quinzii, Alberto A; Casalino, Simona S; Gaule, Marina M; Pesoni, Camilla C; Merz, Valeria V; Pietrobono, Silvia S; Mangiameli, Domenico D; Pasquato, Martina M; Milleri, Stefano S; Giacopuzzi, Simone S; Bencivenga, Maria M; Tomezzoli, Anna A; de Manzoni, Giovanni G; Melisi, Davide D
Whole-exome Sequencing of Nigerian Prostate Tumors from the Prostate Cancer Transatlantic Consortium (CaPTC) Reveals DNA Repair Genes Associated with African Ancestry.
Cancer Research Communications
White, Jason A JA; Kaninjing, Ernest T ET; Adeniji, Kayode A KA; Jibrin, Paul P; Obafunwa, John O JO; Ogo, Chidiebere N CN; Mohammed, Faruk F; Popoola, Ademola A; Fatiregun, Omolara A OA; Oluwole, Olabode P OP; Karanam, Balasubramanyam B; Elhussin, Isra I; Ambs, Stefan S; Tang, Wei W; Davis, Melissa M; Polak, Paz P; Campbell, Moray J MJ; Brignole, Kathryn R KR; Rotimi, Solomon O SO; Dean-Colomb, Windy W; Odedina, Folake T FT; Martin, Damali N DN; Yates, Clayton C
Publication Date: 2022-09
Variant appearance in text: APC: 3920T>A; I1307K; rs1801155
Network expansion of genetic associations defines a pleiotropy map of human cell biology.
Nature Genetics
Barrio-Hernandez, Inigo I; Schwartzentruber, Jeremy J; Shrivastava, Anjali A; Del-Toro, Noemi N; Gonzalez, Asier A; Zhang, Qian Q; Mountjoy, Edward E; Suveges, Daniel D; Ochoa, David D; Ghoussaini, Maya M; Bradley, Glyn G; Hermjakob, Henning H; Orchard, Sandra S; Dunham, Ian I; Anderson, Carl A CA; Porras, Pablo P; Beltrao, Pedro P
Publication Date: 2023-02-23
Variant appearance in text: APC: 3920T>A; Ile1307Lys
Integrated clinical and genomic analysis identifies driver events and molecular evolution of colitis-associated cancers.
Nature Communications
Chatila, Walid K WK; Walch, Henry H; Hechtman, Jaclyn F JF; Moyer, Sydney M SM; Sgambati, Valeria V; Faleck, David M DM; Srivastava, Amitabh A; Tang, Laura L; Benhamida, Jamal J; Ismailgeci, Dorina D; Campos, Carl C; Wu, Fan F; Chang, Qing Q; Vakiani, Efsevia E; de Stanchina, Elisa E; Weiser, Martin R MR; Widmar, Maria M; Yantiss, Rhonda K RK; Shah, Manish A MA; Bass, Adam J AJ; Stadler, Zsofia K ZK; Katz, Lior H LH; Mellinghoff, Ingo K IK; Sethi, Nilay S NS; Schultz, Nikolaus N; Ganesh, Karuna K; Kelsen, David D; Yaeger, Rona R
Publication Date: 2023-01-07
Variant appearance in text: APC: 3920T>A; Ile1307Lys
Prevalence and clinical implications of germline mutations among Jordanian patients with ovarian cancer. The Jordanian exploratory cancer genetics (Jo-ECAG) ovarian study.
Molecular Genetics & Genomic Medicine
Abdel-Razeq, Hikmat H; Al-Azzam, Khansa K; Elemian, Shatha S; Abu-Fares, Hala H; Abu Sheikha, Areej A; Bani Hani, Hira H; Bater, Rayan R; Sharaf, Baha' B; Heald, Brandie B; Esplin, Edward D ED; Nielsen, Sarah M SM; Alkyam, Mais M; Abujamous, Lama L; Al-Attary, Areej A
Publication Date: 2022-12-19
Variant appearance in text: APC: 3920T>A; Ile1307Lys
Ashkenazi Jewish and Other White APC I1307K Carriers Are at Higher Risk for Multiple Cancers.
Cancers
Forkosh, Esther E; Bergel, Michael M; Hatchell, Kathryn E KE; Nielsen, Sarah M SM; Heald, Brandie B; Benson, Ariel A AA; Friedman, Eitan E; Esplin, Edward D ED; Katz, Lior H LH
Genome-wide data from medieval German Jews show that the Ashkenazi founder event pre-dated the 14th century.
Cell
Waldman, Shamam S; Backenroth, Daniel D; Harney, Éadaoin É; Flohr, Stefan S; Neff, Nadia C NC; Buckley, Gina M GM; Fridman, Hila H; Akbari, Ali A; Rohland, Nadin N; Mallick, Swapan S; Olalde, Iñigo I; Cooper, Leo L; Lomes, Ariel A; Lipson, Joshua J; Cano Nistal, Jorge J; Yu, Jin J; Barzilai, Nir N; Peter, Inga I; Atzmon, Gil G; Ostrer, Harry H; Lencz, Todd T; Maruvka, Yosef E YE; Lämmerhirt, Maike M; Beider, Alexander A; Rutgers, Leonard V LV; Renson, Virginie V; Prufer, Keith M KM; Schiffels, Stephan S; Ringbauer, Harald H; Sczech, Karin K; Carmi, Shai S; Reich, David D
Publication Date: 2022-11-22
Variant appearance in text: APC: I1307K; rs1801155
Allogeneic hematopoietic stem cell transplant outcomes in adults with inherited myeloid malignancies.
Blood Advances
Saygin, Caner C; Roloff, Gregory W GW; Hahn, Christopher N CN; Chhetri, Rakchha R; Gill, Saar I SI; Elmariah, Hany H; Talati, Chetasi C; Nunley, Emma E; Gao, Guimin G; Kim, Aelin A; Bishop, Michael R MR; Kosuri, Satyajit S; Das, Soma S; Singhal, Deepak D; Venugopal, Parvathy P; Homan, Claire Christine CC; Brown, Anna L AL; Scott, Hamish S HS; Hiwase, Devendra K DK; Godley, Lucy A LA
Diagnostic yield and clinical relevance of expanded genetic testing for cancer patients.
Genome Medicine
Ceyhan-Birsoy, Ozge O; Jayakumaran, Gowtham G; Kemel, Yelena Y; Misyura, Maksym M; Aypar, Umut U; Jairam, Sowmya S; Yang, Ciyu C; Li, Yirong Y; Mehta, Nikita N; Maio, Anna A; Arnold, Angela A; Salo-Mullen, Erin E; Sheehan, Margaret M; Syed, Aijazuddin A; Walsh, Michael M; Carlo, Maria M; Robson, Mark M; Offit, Kenneth K; Ladanyi, Marc M; Reis-Filho, Jorge S JS; Stadler, Zsofia K ZK; Zhang, Liying L; Latham, Alicia A; Zehir, Ahmet A; Mandelker, Diana D
Molecular characterization of colorectal cancer patients
Biomedica : Revista Del Instituto Nacional De Salud
Afanador, Carlos Humberto CH; Palacio, Katherine Andrea KA; Isaza, Luis Fernando LF; Ahumada, Enoc E; Ocampo, Carlos Mauricio CM; Muñetón, Carlos Mario CM
Inherited Germline Cancer Susceptibility Gene Variants in Individuals with Non-Muscle-Invasive Bladder Cancer.
Clinical Cancer Research : An Official Journal Of The American Association For Cancer Research
Pietzak, Eugene J EJ; Whiting, Karissa K; Srinivasan, Preethi P; Bandlamudi, Chaitanya C; Khurram, Aliya A; Joseph, Vijai V; Walasek, Aleksandra A; Bochner, Emily E; Clinton, Timothy T; Almassi, Nima N; Truong, Hong H; de Jesus Escano, Manuel R MR; Wiseman, Michal M; Mandelker, Diana D; Kemel, Yelena Y; Zhang, Liying L; Walsh, Michael F MF; Cadoo, Karen A KA; Coleman, Jonathan A JA; Al-Ahmadie, Hikmat H; Rosenberg, Jonathan E JE; Iyer, Gopakumar V GV; Solit, David B DB; Ostrovnaya, Irina I; Offit, Kenneth K; Robson, Mark E ME; Stadler, Zsofia K ZK; Berger, Michael F MF; Bajorin, Dean F DF; Carlo, Maria M; Bochner, Bernard H BH
Genomic and microenvironmental landscape of stage I follicular lymphoma, compared with stage III/IV.
Blood Advances
Los-de Vries, G Tjitske GT; Stevens, Wendy B C WBC; van Dijk, Erik E; Langois-Jacques, Carole C; Clear, Andrew J AJ; Stathi, Phylicia P; Roemer, Margaretha G M MGM; Mendeville, Matias M; Hijmering, Nathalie J NJ; Sander, Birgitta B; Rosenwald, Andreas A; Calaminici, Maria M; Hoster, Eva E; Hiddemann, Wolfgang W; Gaulard, Philippe P; Salles, Gilles G; Horn, Heike H; Klapper, Wolfram W; Xerri, Luc L; Burton, Catherine C; Tooze, Reuben M RM; Smith, Alexandra G AG; Buske, Christian C; Scott, David W DW; Natkunam, Yasodha Y; Advani, Ranjana R; Sehn, Laurie H LH; Raemaekers, John J; Gribben, John J; Kimby, Eva E; Kersten, Marie José MJ; Maucort-Boulch, Delphine D; Ylstra, Bauke B; de Jong, Daphne D
Publication Date: 2022-09-27
Variant appearance in text: APC: 3920T>A; I1307K; rs1801155
Homologous Recombination Deficiency in Ovarian, Breast, Colorectal, Pancreatic, Non-Small Cell Lung and Prostate Cancers, and the Mechanisms of Resistance to PARP Inhibitors.
Frontiers In Oncology
Mekonnen, Negesse N; Yang, Hobin H; Shin, Young Kee YK
Clinical genomic profiling in the management of patients with soft tissue and bone sarcoma.
Nature Communications
Gounder, Mrinal M MM; Agaram, Narasimhan P NP; Trabucco, Sally E SE; Robinson, Victoria V; Ferraro, Richard A RA; Millis, Sherri Z SZ; Krishnan, Anita A; Lee, Jessica J; Attia, Steven S; Abida, Wassim W; Drilon, Alexander A; Chi, Ping P; Angelo, Sandra P D' SP; Dickson, Mark A MA; Keohan, Mary Lou ML; Kelly, Ciara M CM; Agulnik, Mark M; Chawla, Sant P SP; Choy, Edwin E; Chugh, Rashmi R; Meyer, Christian F CF; Myer, Parvathi A PA; Moore, Jessica L JL; Okimoto, Ross A RA; Pollock, Raphael E RE; Ravi, Vinod V; Singh, Arun S AS; Somaiah, Neeta N; Wagner, Andrew J AJ; Healey, John H JH; Frampton, Garrett M GM; Venstrom, Jeffrey M JM; Ross, Jeffrey S JS; Ladanyi, Marc M; Singer, Samuel S; Brennan, Murray F MF; Schwartz, Gary K GK; Lazar, Alexander J AJ; Thomas, David M DM; Maki, Robert G RG; Tap, William D WD; Ali, Siraj M SM; Jin, Dexter X DX
Best practices for the interpretation and reporting of clinical whole genome sequencing.
Npj Genomic Medicine
Austin-Tse, Christina A CA; Jobanputra, Vaidehi V; Perry, Denise L DL; Bick, David D; Taft, Ryan J RJ; Venner, Eric E; Gibbs, Richard A RA; Young, Ted T; Barnett, Sarah S; Belmont, John W JW; Boczek, Nicole N; Chowdhury, Shimul S; Ellsworth, Katarzyna A KA; Guha, Saurav S; Kulkarni, Shashikant S; Marcou, Cherisse C; Meng, Linyan L; Murdock, David R DR; Rehman, Atteeq U AU; Spiteri, Elizabeth E; Thomas-Wilson, Amanda A; Kearney, Hutton M HM; Rehm, Heidi L HL; ,
Publication Date: 2022-04-08
Variant appearance in text: APC: 3920T>A; Ile1307Lys
Prediction of breast cancer risk based on flow variant analysis of circulating peripheral blood mononuclear cells.
Hgg Advances
Loke, Johnny J; Alim, Ishraq I; Yam, Sarah S; Klugman, Susan S; Xia, Li C LC; Gruber, Dorota D; Tegay, David D; LaBella, Andrea A; Onel, Kenan K; Ostrer, Harry H
Five-year absolute risk estimates of colorectal cancer based on CCRAT model and polygenic risk scores: A validation study using the Quebec population-based cohort CARTaGENE.
Preventive Medicine Reports
Jantzen, Rodolphe R; Payette, Yves Y; de Malliard, Thibault T; Labbé, Catherine C; Noisel, Nolwenn N; Broët, Philippe P
The clinical significance of adenomatous polyposis coli (APC) and catenin Beta 1 (CTNNB1) genetic aberrations in patients with melanoma.
Bmc Cancer
Karachaliou, Georgia Sofia GS; Alkallas, Rached R; Carroll, Sarah B SB; Caressi, Chongshan C; Zakria, Danny D; Patel, Nirali M NM; Trembath, Dimitri G DG; Ezzell, Jennifer A JA; Pegna, Guillaume J GJ; Googe, Paul B PB; Galeotti, Jonathan P JP; Ayvali, Fatih F; Collichio, Frances A FA; Lee, Carrie B CB; Ollila, David W DW; Gulley, Margaret L ML; Johnson, Douglas B DB; Kim, Kevin B KB; Watson, Ian R IR; Moschos, Stergios J SJ
The clinical significance of adenomatous polyposis coli (APC) and catenin Beta 1 (CTNNB1) genetic aberrations in patients with melanoma.
Bmc Cancer
Karachaliou, Georgia Sofia GS; Alkallas, Rached R; Carroll, Sarah B SB; Caressi, Chongshan C; Zakria, Danny D; Patel, Nirali M NM; Trembath, Dimitri G DG; Ezzell, Jennifer A JA; Pegna, Guillaume J GJ; Googe, Paul B PB; Galeotti, Jonathan P JP; Ayvali, Fatih F; Collichio, Frances A FA; Lee, Carrie B CB; Ollila, David W DW; Gulley, Margaret L ML; Johnson, Douglas B DB; Kim, Kevin B KB; Watson, Ian R IR; Moschos, Stergios J SJ