Both cis and trans-acting genetic factors drive somatic instability in female carriers of the FMR1 premutation.
Scientific Reports
Hwang, Ye Hyun YH; Hayward, Bruce Eliot BE; Zafarullah, Marwa M; Kumar, Jay J; Durbin Johnson, Blythe B; Holmans, Peter P; Usdin, Karen K; Tassone, Flora F
Prevalence and spectrum of DNA mismatch repair gene variation in the general Chinese population.
Journal Of Medical Genetics
Zhang, Li L; Qin, Zixin Z; Huang, Teng T; Tam, Benjamin B; Ruan, Yongsen Y; Guo, Maoni M; Wu, Xiaobing X; Li, Jiaheng J; Zhao, Bojin B; Chian, Jia Sheng JS; Wang, Xiaoyu X; Wang, Lei L; Wang, San Ming SM
High throughput profiling of undifferentiated pleomorphic sarcomas identifies two main subgroups with distinct immune profile, clinical outcome and sensitivity to targeted therapies.
Ebiomedicine
Toulmonde, Maud M; Lucchesi, Carlo C; Verbeke, Stéphanie S; Crombe, Amandine A; Adam, Julien J; Geneste, Damien D; Chaire, Vanessa V; Laroche-Clary, Audrey A; Perret, Raul R; Bertucci, François F; Bertolo, Frederic F; Bianchini, Laurence L; Dadone-Montaudie, Bérengère B; Hembrough, Todd T; Sweet, Steve S; Kim, Yeoun Jin YJ; Cecchi, Fabiola F; Le Loarer, François F; Italiano, Antoine A
Genome-wide association study identifies genetic factors that modify age at onset in Machado-Joseph disease.
Aging
Akçimen, Fulya F; Martins, Sandra S; Liao, Calwing C; Bourassa, Cynthia V CV; Catoire, Hélène H; Nicholson, Garth A GA; Riess, Olaf O; Raposo, Mafalda M; França, Marcondes C MC; Vasconcelos, João J; Lima, Manuela M; Lopes-Cendes, Iscia I; Saraiva-Pereira, Maria Luiza ML; Jardim, Laura B LB; Sequeiros, Jorge J; Dion, Patrick A PA; Rouleau, Guy A GA
A genetic association study of glutamine-encoding DNA sequence structures, somatic CAG expansion, and DNA repair gene variants, with Huntington disease clinical outcomes.
Ebiomedicine
Ciosi, Marc M; Maxwell, Alastair A; Cumming, Sarah A SA; Hensman Moss, Davina J DJ; Alshammari, Asma M AM; Flower, Michael D MD; Durr, Alexandra A; Leavitt, Blair R BR; Roos, Raymund A C RAC; , ; , ; Holmans, Peter P; Jones, Lesley L; Langbehn, Douglas R DR; Kwak, Seung S; Tabrizi, Sarah J SJ; Monckton, Darren G DG
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
Organoids as a new model for improving regenerative medicine and cancer personalized therapy in renal diseases.
Cell Death & Disease
Grassi, Ludovica L; Alfonsi, Romina R; Francescangeli, Federica F; Signore, Michele M; De Angelis, Maria Laura ML; Addario, Antonio A; Costantini, Manuela M; Flex, Elisabetta E; Ciolfi, Andrea A; Pizzi, Simone S; Bruselles, Alessandro A; Pallocca, Matteo M; Simone, Giuseppe G; Haoui, Mustapha M; Falchi, Mario M; Milella, Michele M; Sentinelli, Steno S; Di Matteo, Paola P; Stellacci, Emilia E; Gallucci, Michele M; Muto, Giovanni G; Tartaglia, Marco M; De Maria, Ruggero R; Bonci, Désirée D
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
Identification of genetic variants for clinical management of familial colorectal tumors.
Bmc Medical Genetics
Dominguez-Valentin, Mev M; Nakken, Sigve S; Tubeuf, Hélène H; Vodak, Daniel D; Ekstrøm, Per Olaf PO; Nissen, Anke M AM; Morak, Monika M; Holinski-Feder, Elke E; Martins, Alexandra A; Møller, Pål P; Hovig, Eivind E
Impact of DNA repair gene polymorphisms on the risk of biochemical recurrence after radiotherapy and overall survival in prostate cancer.
Oncotarget
Zanusso, Chiara C; Bortolus, Roberto R; Dreussi, Eva E; Polesel, Jerry J; Montico, Marcella M; Cecchin, Erika E; Gagno, Sara S; Rizzolio, Flavio F; Arcicasa, Mauro M; Novara, Giacomo G; Toffoli, Giuseppe G
Whole exome sequencing of independent lung adenocarcinoma, lung squamous cell carcinoma, and malignant peritoneal mesothelioma: A case report.
Medicine
Vanni, Irene I; Coco, Simona S; Bonfiglio, Silvia S; Cittaro, Davide D; Genova, Carlo C; Biello, Federica F; Mora, Marco M; Rossella, Valeria V; Dal Bello, Maria Giovanna MG; Truini, Anna A; Banelli, Barbara B; Lazarevic, Dejan D; Alama, Angela A; Rijavec, Erika E; Barletta, Giulia G; Grossi, Francesco F
Pharmacogenetics Biomarkers and Their Specific Role in Neoadjuvant Chemoradiotherapy Treatments: An Exploratory Study on Rectal Cancer Patients.
International Journal Of Molecular Sciences
Dreussi, Eva E; Cecchin, Erika E; Polesel, Jerry J; Canzonieri, Vincenzo V; Agostini, Marco M; Boso, Caterina C; Belluco, Claudio C; Buonadonna, Angela A; Lonardi, Sara S; Bergamo, Francesca F; Gagno, Sara S; De Mattia, Elena E; Pucciarelli, Salvatore S; De Paoli, Antonino A; Toffoli, Giuseppe G
Candidate germline polymorphisms of genes belonging to the pathways of four drugs used in osteosarcoma standard chemotherapy associated with risk, survival and toxicity in non-metastatic high-grade osteosarcoma.
Oncotarget
Hattinger, Claudia M CM; Biason, Paola P; Iacoboni, Erika E; Gagno, Sara S; Fanelli, Marilù M; Tavanti, Elisa E; Vella, Serena S; Ferrari, Stefano S; Roli, Andrea A; Roncato, Rossana R; Giodini, Luciana L; Scotlandi, Katia K; Picci, Piero P; Toffoli, Giuseppe G; Serra, Massimo M
Whole exome sequencing and single nucleotide polymorphism array analyses to identify germline alterations in genes associated with testosterone metabolism in a patient with androgen insensitivity syndrome and early-onset colorectal cancer.
Chinese Journal Of Cancer
Disciglio, Vittoria V; Devecchi, Andrea A; Palumbo, Orazio O; Carella, Massimo M; Penso, Donata D; Milione, Massimo M; Valle, Giorgio G; Pierotti, Marco Alessandro MA; Vitellaro, Marco M; Bertario, Lucio L; Canevari, Silvana S; Signoroni, Stefano S; De Cecco, Loris L
Publication Date: 2016-06-07
Variant appearance in text: MLH1: Ile219Leu; rs1799977
Lynch syndrome associated with two MLH1 promoter variants and allelic imbalance of MLH1 expression.
Human Mutation
Hesson, Luke B LB; Packham, Deborah D; Kwok, Chau-To CT; Nunez, Andrea C AC; Ng, Benedict B; Schmidt, Christa C; Fields, Michael M; Wong, Jason W H JW; Sloane, Mathew A MA; Ward, Robyn L RL
Genetic polymorphisms in DNA repair and oxidative stress pathways may modify the association between body size and postmenopausal breast cancer.
Annals Of Epidemiology
McCullough, Lauren E LE; Eng, Sybil M SM; Bradshaw, Patrick T PT; Cleveland, Rebecca J RJ; Steck, Susan E SE; Terry, Mary Beth MB; Shen, Jing J; Crew, Katherine D KD; Rossner, Pavel P; Ahn, Jiyoung J; Ambrosone, Christine B CB; Teitelbaum, Susan L SL; Neugut, Alfred I AI; Santella, Regina M RM; Gammon, Marilie D MD
Systematic review and meta-analysis of candidate gene association studies of lower urinary tract symptoms in men.
European Urology
Cartwright, Rufus R; Mangera, Altaf A; Tikkinen, Kari A O KA; Rajan, Prabhakar P; Pesonen, Jori J; Kirby, Anna C AC; Thiagamoorthy, Ganesh G; Ambrose, Chris C; Gonzalez-Maffe, Juan J; Bennett, Phillip R PR; Palmer, Tom T; Walley, Andrew A; Järvelin, Marjo-Riitta MR; Khullar, Vik V; Chapple, Chris C
Evaluation of ultra-deep targeted sequencing for personalized breast cancer care.
Breast Cancer Research : Bcr
Harismendy, Olivier O; Schwab, Richard B RB; Alakus, Hakan H; Yost, Shawn E SE; Matsui, Hiroko H; Hasteh, Farnaz F; Wallace, Anne M AM; Park, Hannah L HL; Madlensky, Lisa L; Parker, Barbara B; Carpenter, Philip M PM; Jepsen, Kristen K; Anton-Culver, Hoda H; Frazer, Kelly A KA
Integrating precision medicine in the study and clinical treatment of a severely mentally ill person.
Peerj
O'Rawe, Jason A JA; Fang, Han H; Rynearson, Shawn S; Robison, Reid R; Kiruluta, Edward S ES; Higgins, Gerald G; Eilbeck, Karen K; Reese, Martin G MG; Lyon, Gholson J GJ
Polymorphisms in DNA repair genes, recreational physical activity and breast cancer risk.
International Journal Of Cancer
McCullough, Lauren E LE; Santella, Regina M RM; Cleveland, Rebecca J RJ; Millikan, Robert C RC; Olshan, Andrew F AF; North, Kari E KE; Bradshaw, Patrick T PT; Eng, Sybil M SM; Terry, Mary Beth MB; Shen, Jing J; Crew, Katherine D KD; Rossner, Pavel P; Teitelbaum, Susan L SL; Neugut, Alfred I AI; Gammon, Marilie D MD
Assessing SNP-SNP interactions among DNA repair, modification and metabolism related pathway genes in breast cancer susceptibility.
Plos One
Sapkota, Yadav Y; Mackey, John R JR; Lai, Raymond R; Franco-Villalobos, Conrado C; Lupichuk, Sasha S; Robson, Paula J PJ; Kopciuk, Karen K; Cass, Carol E CE; Yasui, Yutaka Y; Damaraju, Sambasivarao S
Analysis of single nucleotide polymorphisms and radiation sensitivity of the lung assessed with an objective radiologic endpoin.
Clinical Lung Cancer
Kelsey, Chris R CR; Jackson, Isabel L IL; Langdon, Scott S; Owzar, Kouros K; Hubbs, Jessica J; Vujaskovic, Zeljko Z; Das, Shiva S; Marks, Lawrence B LB
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
Genetic susceptibility to therapy-related leukemia after Hodgkin lymphoma or non-Hodgkin lymphoma: role of drug metabolism, apoptosis and DNA repair.
Blood Cancer Journal
Ding, Y Y; Sun, C-L CL; Li, L L; Li, M M; Francisco, L L; Sabado, M M; Hahn, B B; Gyorffy, J J; Noe, J J; Larson, G P GP; Forman, S J SJ; Bhatia, R R; Bhatia, S S
Endometrial cancer and genetic variation in PTEN, PIK3CA, AKT1, MLH1, and MSH2 within a population-based case-control study.
Gynecologic Oncology
Lacey, James V JV; Yang, Hannah H; Gaudet, Mia M MM; Dunning, Alison A; Lissowska, Jolanta J; Sherman, Mark E ME; Peplonska, Beata B; Brinton, Louise A LA; Healey, Catherine S CS; Ahmed, Shahana S; Pharoah, Paul P; Easton, Douglas D; Chanock, Stephen S; Garcia-Closas, Montserrat M
Specific variants in the MLH1 gene region may drive DNA methylation, loss of protein expression, and MSI-H colorectal cancer.
Plos One
Mrkonjic, Miralem M; Roslin, Nicole M NM; Greenwood, Celia M CM; Raptis, Stavroula S; Pollett, Aaron A; Laird, Peter W PW; Pethe, Vaijayanti V VV; Chiang, Theodore T; Daftary, Darshana D; Dicks, Elizabeth E; Thibodeau, Stephen N SN; Gallinger, Steven S; Parfrey, Patrick S PS; Younghusband, H Banfield HB; Potter, John D JD; Hudson, Thomas J TJ; McLaughlin, John R JR; Green, Roger C RC; Zanke, Brent W BW; Newcomb, Polly A PA; Paterson, Andrew D AD; Bapat, Bharati B
DNA repair gene polymorphisms and risk of adult meningioma, glioma, and acoustic neuroma.
Neuro-Oncology
Rajaraman, Preetha P; Hutchinson, Amy A; Wichner, Sara S; Black, Peter M PM; Fine, Howard A HA; Loeffler, Jay S JS; Selker, Robert G RG; Shapiro, William R WR; Rothman, Nathaniel N; Linet, Martha S MS; Inskip, Peter D PD
Mismatch repair gene polymorphisms and survival in invasive ovarian cancer patients.
European Journal Of Cancer (Oxford, England : 1990)
Mann, Andrea A; Hogdall, Estrid E; Ramus, Susan J SJ; DiCioccio, Richard A RA; Hogdall, Claus C; Quaye, Lydia L; McGuire, Valerie V; Whittemore, Alice S AS; Shah, Mitul M; Greenberg, David D; Easton, Douglas F DF; Ponder, Bruce A J BA; Kjaer, Susanne Krüger SK; Gayther, Simon A SA; Thompson, Deborah J DJ; Pharoah, Paul D P PD; Song, Honglin H