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: BRCA2: 1813del; Ile605fs
Characterization of BRCA Deficiency in Ovarian Cancer.
Cancers
Barbero, Giovanna G; Zuntini, Roberta R; Magini, Pamela P; Desiderio, Laura L; Bonaguro, Michela M; Perrone, Anna Myriam AM; Rubino, Daniela D; Grippa, Mina M; De Leo, Antonio A; Ceccarelli, Claudio C; Godino, Lea L; Miccoli, Sara S; Ferrari, Simona S; Santini, Donatella D; De Iaco, Pierandrea P; Zamagni, Claudio C; Innella, Giovanni G; Turchetti, Daniela D
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: BRCA2: 1813del; Ile605fs
Tumor genomic profiling and personalized tracking of circulating tumor DNA in Vietnamese colorectal cancer patients.
Frontiers In Oncology
Nguyen, Huu Thinh HT; Nguyen, Trieu Vu TV; Nguyen Hoang, Van-Anh VA; Tran, Duc Huy DH; Le Trinh, Ngoc An NA; Le, Minh Triet MT; Nguyen Tran, Tuan-Anh TA; Pham, Thanh Huyen TH; Dinh, Thi Cuc TC; Nguyen, Tien Sy TS; Nguyen The, Ky Cuong KC; Mai, Hoa H; Chu, Minh Tuan MT; Pham, Dinh Hoang DH; Nguyen, Xuan Chi XC; Ngo Ha, Thien My TM; Nguyen, Duy Sinh DS; Nguyen, Du Quyen DQ; Lu, Y-Thanh YT; Do Thi, Thanh Thuy TT; Truong, Dinh Kiet DK; Nguyen, Quynh Tho QT; Nguyen, Hoai-Nghia HN; Giang, Hoa H; Tu, Lan N LN
Copy number variants as modifiers of breast cancer risk for BRCA1/BRCA2 pathogenic variant carriers.
Communications Biology
Hakkaart, Christopher C; Pearson, John F JF; Marquart, Louise L; Dennis, Joe J; Wiggins, George A R GAR; Barnes, Daniel R DR; Robinson, Bridget A BA; Mace, Peter D PD; Aittomäki, Kristiina K; Andrulis, Irene L IL; Arun, Banu K BK; Azzollini, Jacopo J; Balmaña, Judith J; Barkardottir, Rosa B RB; Belhadj, Sami S; Berger, Lieke L; Blok, Marinus J MJ; Boonen, Susanne E SE; Borde, Julika J; Bradbury, Angela R AR; Brunet, Joan J; Buys, Saundra S SS; Caligo, Maria A MA; Campbell, Ian I; Chung, Wendy K WK; Claes, Kathleen B M KBM; , ; , ; Collonge-Rame, Marie-Agnès MA; Cook, Jackie J; Cosgrove, Casey C; Couch, Fergus J FJ; Daly, Mary B MB; Dandiker, Sita S; Davidson, Rosemarie R; de la Hoya, Miguel M; de Putter, Robin R; Delnatte, Capucine C; Dhawan, Mallika M; Diez, Orland O; Ding, Yuan Chun YC; Domchek, Susan M SM; Donaldson, Alan A; Eason, Jacqueline J; Easton, Douglas F DF; Ehrencrona, Hans H; Engel, Christoph C; Evans, D Gareth DG; Faust, Ulrike U; Feliubadaló, Lidia L; Fostira, Florentia F; Friedman, Eitan E; Frone, Megan M; Frost, Debra D; Garber, Judy J; Gayther, Simon A SA; Gehrig, Andrea A; Gesta, Paul P; Godwin, Andrew K AK; Goldgar, David E DE; Greene, Mark H MH; Hahnen, Eric E; Hake, Christopher R CR; Hamann, Ute U; Hansen, Thomas V O TVO; Hauke, Jan J; Hentschel, Julia J; Herold, Natalie N; Honisch, Ellen E; Hulick, Peter J PJ; Imyanitov, Evgeny N EN; , ; , ; , ; Isaacs, Claudine C; Izatt, Louise L; Izquierdo, Angel A; Jakubowska, Anna A; James, Paul A PA; Janavicius, Ramunas R; John, Esther M EM; Joseph, Vijai V; Karlan, Beth Y BY; Kemp, Zoe Z; Kirk, Judy J; Konstantopoulou, Irene I; Koudijs, Marco M; Kwong, Ava A; Laitman, Yael Y; Lalloo, Fiona F; Lasset, Christine C; Lautrup, Charlotte C; Lazaro, Conxi C; Legrand, Clémentine C; Leslie, Goska G; Lesueur, Fabienne F; Mai, Phuong L PL; Manoukian, Siranoush S; Mari, Véronique V; Martens, John W M JWM; McGuffog, Lesley L; Mebirouk, Noura N; Meindl, Alfons A; Miller, Austin A; Montagna, Marco M; Moserle, Lidia L; Mouret-Fourme, Emmanuelle E; Musgrave, Hannah H; Nambot, Sophie S; Nathanson, Katherine L KL; Neuhausen, Susan L SL; Nevanlinna, Heli H; Yie, Joanne Ngeow Yuen JNY; Nguyen-Dumont, Tu T; Nikitina-Zake, Liene L; Offit, Kenneth K; Olah, Edith E; Olopade, Olufunmilayo I OI; Osorio, Ana A; Ott, Claus-Eric CE; Park, Sue K SK; Parsons, Michael T MT; Pedersen, Inge Sokilde IS; Peixoto, Ana A; Perez-Segura, Pedro P; Peterlongo, Paolo P; Pocza, Timea T; Radice, Paolo P; Ramser, Juliane J; Rantala, Johanna J; Rodriguez, Gustavo C GC; Rønlund, Karina K; Rosenberg, Efraim H EH; Rossing, Maria M; Schmutzler, Rita K RK; Shah, Payal D PD; Sharif, Saba S; Sharma, Priyanka P; Side, Lucy E LE; Simard, Jacques J; Singer, Christian F CF; Snape, Katie K; Steinemann, Doris D; Stoppa-Lyonnet, Dominique D; Sutter, Christian C; Tan, Yen Yen YY; Teixeira, Manuel R MR; Teo, Soo Hwang SH; Thomassen, Mads M; Thull, Darcy L DL; Tischkowitz, Marc M; Toland, Amanda E AE; Trainer, Alison H AH; Tripathi, Vishakha V; Tung, Nadine N; van Engelen, Klaartje K; van Rensburg, Elizabeth J EJ; Vega, Ana A; Viel, Alessandra A; Walker, Lisa L; Weitzel, Jeffrey N JN; Wevers, Marike R MR; Chenevix-Trench, Georgia G; Spurdle, Amanda B AB; Antoniou, Antonis C AC; Walker, Logan C LC
Publication Date: 2022-10-06
Variant appearance in text: BRCA2: 1813delA; Ile605fs
Tumor immune microenvironment of primary prostate cancer with and without germline mutations in homologous recombination repair genes.
Journal For Immunotherapy Of Cancer
Trigos, Anna Sofia AS; Pasam, Anupama A; Banks, Patricia P; Wallace, Roslyn R; Guo, Christina C; Keam, Simon S; Thorne, Heather H; , ; Mitchell, Catherine C; Lade, Stephen S; Clouston, David D; Hakansson, Alexander A; Liu, Yang Y; Blyth, Benjamin B; Murphy, Declan D; Lawrentschuk, Nathan N; Bolton, Damien D; Moon, Daniel D; Darcy, Phil P; Haupt, Ygal Y; Williams, Scott G SG; Castro, Elena E; Olmos, David D; Goode, David D; Neeson, Paul P; Sandhu, Shahneen S
Management of BRCA Tumour Testing in an Integrated Molecular Tumour Board Multidisciplinary Model.
Frontiers In Oncology
Azzollini, Jacopo J; Vingiani, Andrea A; Agnelli, Luca L; Tamborini, Elena E; Perrone, Federica F; Conca, Elena E; Capone, Iolanda I; Busico, Adele A; Peissel, Bernard B; Rosina, Erica E; Ducceschi, Monika M; Mantiero, Mara M; Lopez, Salvatore S; Raspagliesi, Francesco F; Niger, Monica M; Duca, Matteo M; Damian, Silvia S; Proto, Claudia C; de Braud, Filippo F; Pruneri, Giancarlo G; Manoukian, Siranoush S
Publication Date: 2022
Variant appearance in text: BRCA2: 1813delA; Ile605Tyrfs*9
High likelihood of actionable pathogenic variant detection in breast cancer genes in women with very early onset breast cancer.
Journal Of Medical Genetics
Evans, D Gareth DG; van Veen, Elke Maria EM; Byers, Helen J HJ; Evans, Sarah J SJ; Burghel, George J GJ; Woodward, Emma Roisin ER; Harkness, Elaine F EF; Eccles, Diana M DM; Greville-Haygate, Stephanie L SL; Ellingford, Jamie M JM; Bowers, Naomi L NL; Pereira, Marta M; Wallace, Andrew J AJ; Howell, Sasha J SJ; Howell, Anthony A; Lalloo, Fiona F; Newman, William G WG; Smith, Miriam Jane MJ
Publication Date: 2021-03-23
Variant appearance in text: BRCA2: 1813delA; Ile605Tyrfs*9
High likelihood of actionable pathogenic variant detection in breast cancer genes in women with very early onset breast cancer.
Journal Of Medical Genetics
Evans, D Gareth DG; van Veen, Elke Maria EM; Byers, Helen J HJ; Evans, Sarah J SJ; Burghel, George J GJ; Woodward, Emma Roisin ER; Harkness, Elaine F EF; Eccles, Diana M DM; Greville-Haygate, Stephanie L SL; Ellingford, Jamie M JM; Bowers, Naomi L NL; Pereira, Marta M; Wallace, Andrew J AJ; Howell, Sasha J SJ; Howell, Anthony A; Lalloo, Fiona F; Newman, William G WG; Smith, Miriam Jane MJ
Publication Date: 2022-02
Variant appearance in text: BRCA2: 1813delA; Ile605Tyrfs*9
Thai patients who fulfilled NCCN criteria for breast/ovarian cancer genetic assessment demonstrated high prevalence of germline mutations in cancer susceptibility genes: implication to Asian population testing.
Heritable Susceptibility to Breast Cancer among African-American Women in the Detroit Research on Cancer Survivors Study.
Cancer Epidemiology, Biomarkers & Prevention : A Publication Of The American Association For Cancer Research, Cosponsored By The American Society Of Preventive Oncology
Purrington, Kristen S KS; Raychaudhuri, Sreejata S; Simon, Michael S MS; Clark, Julie J; Ratliff, Valerie V; Dyson, Gregory G; Craig, Douglas B DB; Boerner, Julie L JL; Beebe-Dimmer, Jennifer L JL; Schwartz, Ann G AG
Kinome capture sequencing of high-grade serous ovarian carcinoma reveals novel mutations in the JAK3 gene.
Plos One
Mittempergher, Lorenza L; Piskorz, Anna M AM; Bosma, Astrid J AJ; Michaut, Magali M; Wisman, G Bea A GBA; Kluin, Roelof J C RJC; Nieuwland, Marja M; Brugman, Wim W; van der Ven, Kevin J W KJW; Marass, Francesco F; Morris, James J; Rosenfeld, Nitzan N; Jimenez-Linan, Mercedes M; de Jong, Steven S; van der Zee, Ate G J AGJ; Brenton, James D JD; Bernards, René R
Nyberg, Tommy T; Frost, Debra D; Barrowdale, Daniel D; Evans, D Gareth DG; Bancroft, Elizabeth E; Adlard, Julian J; Ahmed, Munaza M; Barwell, Julian J; Brady, Angela F AF; Brewer, Carole C; Cook, Jackie J; Davidson, Rosemarie R; Donaldson, Alan A; Eason, Jacqueline J; Gregory, Helen H; Henderson, Alex A; Izatt, Louise L; Kennedy, M John MJ; Miller, Claire C; Morrison, Patrick J PJ; Murray, Alex A; Ong, Kai-Ren KR; Porteous, Mary M; Pottinger, Caroline C; Rogers, Mark T MT; Side, Lucy L; Snape, Katie K; Tripathi, Vishakha V; Walker, Lisa L; Tischkowitz, Marc M; Eeles, Rosalind R; Easton, Douglas F DF; Antoniou, Antonis C AC
Publication Date: 2020-10
Variant appearance in text: BRCA2: 1813del; Ile605fs
Spectrum of Germline BRCA1 and BRCA2 Variants Identified in 2351 Ovarian and Breast Cancer Patients Referring to a Reference Cancer Hospital of Rome.
Cancers
Santonocito, Concetta C; Rizza, Roberta R; Paris, Ida I; Marchis, Laura De L; Paolillo, Carmela C; Tiberi, Giordana G; Scambia, Giovanni G; Capoluongo, Ettore E
Classification of variants of uncertain significance in BRCA1 and BRCA2 using personal and family history of cancer from individuals in a large hereditary cancer multigene panel testing cohort.
Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Li, Hongyan H; LaDuca, Holly H; Pesaran, Tina T; Chao, Elizabeth C EC; Dolinsky, Jill S JS; Parsons, Michael M; Spurdle, Amanda B AB; Polley, Eric C EC; Shimelis, Hermela H; Hart, Steven N SN; Hu, Chunling C; Couch, Fergus J FJ; Goldgar, David E DE
Integrating a Next Generation Sequencing Panel into Clinical Practice in Ovarian Cancer.
Yonsei Medical Journal
Lee, Yong Jae YJ; Kim, Dachan D; Kim, Hyun Soo HS; Na, Kiyong K; Lee, Jung Yun JY; Nam, Eun Ji EJ; Kim, Sang Wun SW; Kim, Sunghoon S; Kim, Young Tae YT
A Multi-Center Study of BRCA1 and BRCA2 Germline Mutations in Mexican-Mestizo Breast Cancer Families Reveals Mutations Unreported in Latin American Population.
Cancers
Millan Catalan, Oliver O; Campos-Parra, Alma D AD; Vázquez-Romo, Rafael R; Cantú de León, David D; Jacobo-Herrera, Nadia N; Morales-González, Fermín F; López-Camarillo, César C; Rodríguez-Dorantes, Mauricio M; López-Urrutia, Eduardo E; Pérez-Plasencia, Carlos C
A novel, somatic, transforming mutation in the extracellular domain of Epidermal Growth Factor Receptor identified in myeloproliferative neoplasm.
Scientific Reports
Casolari, D A DA; Nguyen, T T; Butcher, C M CM; Iarossi, D G DG; Hahn, C N CN; Bray, S C SC; Neufing, P P; Parker, W T WT; Feng, J J; Maung, K Z Y KZY; Wee, A A; Vidovic, L L; Kok, C H CH; Bardy, P G PG; Branford, S S; Lewis, I D ID; Lane, S W SW; Scott, H S HS; Ross, D M DM; D'Andrea, R J RJ
Publication Date: 2017-05-26
Variant appearance in text: BRCA2: 1813delA; Ile605fs
Multilevel genomics of colorectal cancers with microsatellite instability-clinical impact of JAK1 mutations and consensus molecular subtype 1.
Genome Medicine
Sveen, Anita A; Johannessen, Bjarne B; Tengs, Torstein T; Danielsen, Stine A SA; Eilertsen, Ina A IA; Lind, Guro E GE; Berg, Kaja C G KCG; Leithe, Edward E; Meza-Zepeda, Leonardo A LA; Domingo, Enric E; Myklebost, Ola O; Kerr, David D; Tomlinson, Ian I; Nesbakken, Arild A; Skotheim, Rolf I RI; Lothe, Ragnhild A RA
Patterns and functional implications of rare germline variants across 12 cancer types.
Nature Communications
Lu, Charles C; Xie, Mingchao M; Wendl, Michael C MC; Wang, Jiayin J; McLellan, Michael D MD; Leiserson, Mark D M MD; Huang, Kuan-Lin KL; Wyczalkowski, Matthew A MA; Jayasinghe, Reyka R; Banerjee, Tapahsama T; Ning, Jie J; Tripathi, Piyush P; Zhang, Qunyuan Q; Niu, Beifang B; Ye, Kai K; Schmidt, Heather K HK; Fulton, Robert S RS; McMichael, Joshua F JF; Batra, Prag P; Kandoth, Cyriac C; Bharadwaj, Maheetha M; Koboldt, Daniel C DC; Miller, Christopher A CA; Kanchi, Krishna L KL; Eldred, James M JM; Larson, David E DE; Welch, John S JS; You, Ming M; Ozenberger, Bradley A BA; Govindan, Ramaswamy R; Walter, Matthew J MJ; Ellis, Matthew J MJ; Mardis, Elaine R ER; Graubert, Timothy A TA; Dipersio, John F JF; Ley, Timothy J TJ; Wilson, Richard K RK; Goodfellow, Paul J PJ; Raphael, Benjamin J BJ; Chen, Feng F; Johnson, Kimberly J KJ; Parvin, Jeffrey D JD; Ding, Li L
Genetic testing in hereditary breast and ovarian cancer using massive parallel sequencing.
Biomed Research International
Ruiz, Anna A; Llort, Gemma G; Yagüe, Carmen C; Baena, Neus N; Viñas, Marina M; Torra, Montse M; Brunet, Anna A; Seguí, Miquel A MA; Saigí, Eugeni E; Guitart, Miriam M
Classifications within molecular subtypes enables identification of BRCA1/BRCA2 mutation carriers by RNA tumor profiling.
Plos One
Larsen, Martin J MJ; Kruse, Torben A TA; Tan, Qihua Q; Lænkholm, Anne-Vibeke AV; Bak, Martin M; Lykkesfeldt, Anne E AE; Sørensen, Kristina P KP; Hansen, Thomas V O TV; Ejlertsen, Bent B; Gerdes, Anne-Marie AM; Thomassen, Mads M
Publication Date: 2013
Variant appearance in text: BRCA2: 1813delA; Ile605Tyrfs*9