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: MLH1: 1943C>T; P648L; rs63750610
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: MLH1: 1943C>T; Pro648Leu
Single cell spatial analysis reveals the topology of immunomodulatory purinergic signaling in glioblastoma.
Nature Communications
Coy, Shannon S; Wang, Shu S; Stopka, Sylwia A SA; Lin, Jia-Ren JR; Yapp, Clarence C; Ritch, Cecily C CC; Salhi, Lisa L; Baker, Gregory J GJ; Rashid, Rumana R; Baquer, Gerard G; Regan, Michael M; Khadka, Prasidda P; Cole, Kristina A KA; Hwang, Jaeho J; Wen, Patrick Y PY; Bandopadhayay, Pratiti P; Santi, Mariarita M; De Raedt, Thomas T; Ligon, Keith L KL; Agar, Nathalie Y R NYR; Sorger, Peter K PK; Touat, Mehdi M; Santagata, Sandro S
Molecular landscape of TP53 mutations in breast cancer and their utility for predicting the response to HER-targeted therapy in HER2 amplification-positive and HER2 mutation-positive amplification-negative patients.
Germline FFPE inherited cancer panel testing in deceased family members: implications for clinical management of unaffected relatives.
European Journal Of Human Genetics : Ejhg
Bennett, Sarah S; Alexander, Elizabeth E; Fraser, Harry H; Bowers, Naomi N; Wallace, Andrew A; Woodward, Emma R ER; Lalloo, Fiona F; Quinn, Anne Marie AM; Huang, Shuwen S; Schlecht, Helene H; Evans, D Gareth DG
Publication Date: 2021-05
Variant appearance in text: MLH1: 1943C>T; Pro648Leu
Mechanisms and therapeutic implications of hypermutation in gliomas.
Nature
Touat, Mehdi M; Li, Yvonne Y YY; Boynton, Adam N AN; Spurr, Liam F LF; Iorgulescu, J Bryan JB; Bohrson, Craig L CL; Cortes-Ciriano, Isidro I; Birzu, Cristina C; Geduldig, Jack E JE; Pelton, Kristine K; Lim-Fat, Mary Jane MJ; Pal, Sangita S; Ferrer-Luna, Ruben R; Ramkissoon, Shakti H SH; Dubois, Frank F; Bellamy, Charlotte C; Currimjee, Naomi N; Bonardi, Juliana J; Qian, Kenin K; Ho, Patricia P; Malinowski, Seth S; Taquet, Leon L; Jones, Robert E RE; Shetty, Aniket A; Chow, Kin-Hoe KH; Sharaf, Radwa R; Pavlick, Dean D; Albacker, Lee A LA; Younan, Nadia N; Baldini, Capucine C; Verreault, Maïté M; Giry, Marine M; Guillerm, Erell E; Ammari, Samy S; Beuvon, Frédéric F; Mokhtari, Karima K; Alentorn, Agusti A; Dehais, Caroline C; Houillier, Caroline C; Laigle-Donadey, Florence F; Psimaras, Dimitri D; Lee, Eudocia Q EQ; Nayak, Lakshmi L; McFaline-Figueroa, J Ricardo JR; Carpentier, Alexandre A; Cornu, Philippe P; Capelle, Laurent L; Mathon, Bertrand B; Barnholtz-Sloan, Jill S JS; Chakravarti, Arnab A; Bi, Wenya Linda WL; Chiocca, E Antonio EA; Fehnel, Katie Pricola KP; Alexandrescu, Sanda S; Chi, Susan N SN; Haas-Kogan, Daphne D; Batchelor, Tracy T TT; Frampton, Garrett M GM; Alexander, Brian M BM; Huang, Raymond Y RY; Ligon, Azra H AH; Coulet, Florence F; Delattre, Jean-Yves JY; Hoang-Xuan, Khê K; Meredith, David M DM; Santagata, Sandro S; Duval, Alex A; Sanson, Marc M; Cherniack, Andrew D AD; Wen, Patrick Y PY; Reardon, David A DA; Marabelle, Aurélien A; Park, Peter J PJ; Idbaih, Ahmed A; Beroukhim, Rameen R; Bandopadhayay, Pratiti P; Bielle, Franck F; Ligon, Keith L KL
REVEL and BayesDel outperform other in silico meta-predictors for clinical variant classification.
Scientific Reports
Tian, Yuan Y; Pesaran, Tina T; Chamberlin, Adam A; Fenwick, R Bryn RB; Li, Shuwei S; Gau, Chia-Ling CL; Chao, Elizabeth C EC; Lu, Hsiao-Mei HM; Black, Mary Helen MH; Qian, Dajun D
Assessing the Pathogenicity, Penetrance, and Expressivity of Putative Disease-Causing Variants in a Population Setting.
American Journal Of Human Genetics
Wright, Caroline F CF; West, Ben B; Tuke, Marcus M; Jones, Samuel E SE; Patel, Kashyap K; Laver, Thomas W TW; Beaumont, Robin N RN; Tyrrell, Jessica J; Wood, Andrew R AR; Frayling, Timothy M TM; Hattersley, Andrew T AT; Weedon, Michael N MN
Publication Date: 2019-02-07
Variant appearance in text: MLH1: P648L; rs63750610
A Bayesian framework for efficient and accurate variant prediction.
Plos One
Qian, Dajun D; Li, Shuwei S; Tian, Yuan Y; Clifford, Jacob W JW; Sarver, Brice A J BAJ; Pesaran, Tina T; Gau, Chia-Ling CL; Elliott, Aaron M AM; Lu, Hsiao-Mei HM; Black, Mary Helen MH
Calibration of multiple in silico tools for predicting pathogenicity of mismatch repair gene missense substitutions.
Human Mutation
Thompson, Bryony A BA; Greenblatt, Marc S MS; Vallee, Maxime P MP; Herkert, Johanna C JC; Tessereau, Chloe C; Young, Erin L EL; Adzhubey, Ivan A IA; Li, Biao B; Bell, Russell R; Feng, Bingjian B; Mooney, Sean D SD; Radivojac, Predrag P; Sunyaev, Shamil R SR; Frebourg, Thierry T; Hofstra, Robert M W RM; Sijmons, Rolf H RH; Boucher, Ken K; Thomas, Alun A; Goldgar, David E DE; Spurdle, Amanda B AB; Tavtigian, Sean V SV