Germline multigene panel testing of patients with endometrial cancer.
Oncology Letters
Kral, Jan J; Jelinkova, Sandra S; Zemankova, Petra P; Vocka, Michal M; Borecka, Marianna M; Cerna, Leona L; Cerna, Marta M; Dostalek, Lukas L; Duskova, Petra P; Foretova, Lenka L; Havranek, Ondrej O; Horackova, Klara K; Hovhannisyan, Milena M; Chvojka, Stepan S; Kalousova, Marta M; Kosarova, Marcela M; Koudova, Monika M; Krutilkova, Vera V; Machackova, Eva E; Nehasil, Petr P; Novotny, Jan J; Otahalova, Barbora B; Puchmajerova, Alena A; Safarikova, Marketa M; Slama, Jiri J; Stranecky, Viktor V; Subrt, Ivan I; Tavandzis, Spiros S; Zikan, Michal M; Zima, Tomas T; Soukupova, Jana J; Kleiblova, Petra P; Kleibl, Zdenek Z; Janatova, Marketa M
Publication Date: 2023-06
Variant appearance in text: MLH1: 350C>T; Thr117Met
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: 350C>T; Thr117Met; rs63750781
Clinically relevant combined effect of polygenic background, rare pathogenic germline variants, and family history on colorectal cancer incidence.
Bmc Medical Genomics
Hassanin, Emadeldin E; Spier, Isabel I; Bobbili, Dheeraj R DR; Aldisi, Rana R; Klinkhammer, Hannah H; David, Friederike F; Dueñas, Nuria N; Hüneburg, Robert R; Perne, Claudia C; Brunet, Joan J; Capella, Gabriel G; Nöthen, Markus M MM; Forstner, Andreas J AJ; Mayr, Andreas A; Krawitz, Peter P; May, Patrick P; Aretz, Stefan S; Maj, Carlo C
Publication Date: 2023-03-05
Variant appearance in text: MLH1: 350C>T; T117M; rs63750781
APPLICATION OF THE ACMG/AMP FRAMEWORK TO CAPTURE EVIDENCE RELEVANT TO PREDICTED AND OBSERVED IMPACT ON SPLICING: RECOMMENDATIONS FROM THE CLINGEN SVI SPLICING SUBGROUP.
Medrxiv : The Preprint Server For Health Sciences
Walker, Logan C LC; de la Hoya, Miguel M; Wiggins, George Ar GA; Lindy, Amanda A; Vincent, Lisa M LM; Parsons, Michael M; Canson, Daffodil M DM; Bis-Brewer, Dana D; Cass, Ashley A; Tchourbanov, Alexander A; Zimmermann, Heather H; Byrne, Alicia B AB; Pesaran, Tina T; Karam, Rachid R; Harrison, Steven M SM; , ; Spurdle, Amanda B AB
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: 350C>T; Thr117Met
Systematic review of reported association studies of monogenic genes and bladder cancer risk and confirmation analysis in a large population cohort.
Bjui Compass
Mian, Abrar A; Wei, Jun J; Shi, Zhuqing Z; Rifkin, Andrew S AS; Zheng, S Lilly SL; Glaser, Alexander P AP; Kearns, James T JT; Helfand, Brian T BT; Xu, Jianfeng J
Publication Date: 2023-03
Variant appearance in text: MLH1: T117M; rs63750781
Population-based estimates of breast cancer risk for carriers of pathogenic variants identified by gene-panel testing.
Npj Breast Cancer
Southey, Melissa C MC; Dowty, James G JG; Riaz, Moeen M; Steen, Jason A JA; Renault, Anne-Laure AL; Tucker, Katherine K; Kirk, Judy J; James, Paul P; Winship, Ingrid I; Pachter, Nicholas N; Poplawski, Nicola N; Grist, Scott S; Park, Daniel J DJ; Pope, Bernard J BJ; Mahmood, Khalid K; Hammet, Fleur F; Mahmoodi, Maryam M; Tsimiklis, Helen H; Theys, Derrick D; Rewse, Amanda A; Willis, Amanda A; Morrow, April A; Speechly, Catherine C; Harris, Rebecca R; Sebra, Robert R; Schadt, Eric E; Lacaze, Paul P; McNeil, John J JJ; Giles, Graham G GG; Milne, Roger L RL; Hopper, John L JL; Nguyen-Dumont, Tú T
Publication Date: 2021-12-09
Variant appearance in text: MLH1: 350C>T; Thr117Met
Population-based estimates of breast cancer risk for carriers of pathogenic variants identified by gene-panel testing.
Npj Breast Cancer
Southey, Melissa C MC; Dowty, James G JG; Riaz, Moeen M; Steen, Jason A JA; Renault, Anne-Laure AL; Tucker, Katherine K; Kirk, Judy J; James, Paul P; Winship, Ingrid I; Pachter, Nicholas N; Poplawski, Nicola N; Grist, Scott S; Park, Daniel J DJ; Pope, Bernard J BJ; Mahmood, Khalid K; Hammet, Fleur F; Mahmoodi, Maryam M; Tsimiklis, Helen H; Theys, Derrick D; Rewse, Amanda A; Willis, Amanda A; Morrow, April A; Speechly, Catherine C; Harris, Rebecca R; Sebra, Robert R; Schadt, Eric E; Lacaze, Paul P; McNeil, John J JJ; Giles, Graham G GG; Milne, Roger L RL; Hopper, John L JL; Nguyen-Dumont, Tú T
Publication Date: 2021-12-09
Variant appearance in text: MLH1: 350C>T; Thr117Met
The Prevalence of Pathogenic or Likely Pathogenic Germline Variants in a Nationwide Cohort of Young Colorectal Cancer Patients Using a Panel of 18 Genes Associated with Colorectal Cancer.
Cancers
Frostberg, Erik E; Petersen, Annabeth Høgh AH; Bojesen, Anders A; Rahr, Hans Bjarke HB; Lindebjerg, Jan J; Rønlund, Karina K
Publication Date: 2021-10-12
Variant appearance in text: MLH1: 350C>T; Thr117Met
Targeted Therapy of Papillary Thyroid Cancer: A Comprehensive Genomic Analysis.
Frontiers In Endocrinology
Hescheler, Daniel A DA; Riemann, Burkhard B; Hartmann, Milan J M MJM; Michel, Maximilian M; Faust, Michael M; Bruns, Christiane J CJ; Alakus, Hakan H; Chiapponi, Costanza C
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
Publication Date: 2022-07
Variant appearance in text: MLH1: 350C>T; Thr117Met; rs63750781
A next-generation sequencing-based strategy combining microsatellite instability and tumor mutation burden for comprehensive molecular diagnosis of advanced colorectal cancer.
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: 350C>T; Thr117Met
Contribution of mRNA Splicing to Mismatch Repair Gene Sequence Variant Interpretation.
Frontiers In Genetics
Thompson, Bryony A BA; Walters, Rhiannon R; Parsons, Michael T MT; Dumenil, Troy T; Drost, Mark M; Tiersma, Yvonne Y; Lindor, Noralane M NM; Tavtigian, Sean V SV; de Wind, Niels N; Spurdle, Amanda B AB; ,
Publication Date: 2020
Variant appearance in text: MLH1: 350C>T; Thr117Met
Landscape of somatic single nucleotide variants and indels in colorectal cancer and impact on survival.
Nature Communications
Zaidi, Syed H SH; Harrison, Tabitha A TA; Phipps, Amanda I AI; Steinfelder, Robert R; Trinh, Quang M QM; Qu, Conghui C; Banbury, Barbara L BL; Georgeson, Peter P; Grasso, Catherine S CS; Giannakis, Marios M; Adams, Jeremy B JB; Alwers, Elizabeth E; Amitay, Efrat L EL; Barfield, Richard T RT; Berndt, Sonja I SI; Borozan, Ivan I; Brenner, Hermann H; Brezina, Stefanie S; Buchanan, Daniel D DD; Cao, Yin Y; Chan, Andrew T AT; Chang-Claude, Jenny J; Connolly, Charles M CM; Drew, David A DA; Farris, Alton Brad AB; Figueiredo, Jane C JC; French, Amy J AJ; Fuchs, Charles S CS; Garraway, Levi A LA; Gruber, Steve S; Guinter, Mark A MA; Hamilton, Stanley R SR; Harlid, Sophia S; Heisler, Lawrence E LE; Hidaka, Akihisa A; Hopper, John L JL; Huang, Wen-Yi WY; Huyghe, Jeroen R JR; Jenkins, Mark A MA; Krzyzanowski, Paul M PM; Lemire, Mathieu M; Lin, Yi Y; Luo, Xuemei X; Mardis, Elaine R ER; McPherson, John D JD; Miller, Jessica K JK; Moreno, Victor V; Mu, Xinmeng Jasmine XJ; Nishihara, Reiko R; Papadopoulos, Nickolas N; Pasternack, Danielle D; Quist, Michael J MJ; Rafikova, Adilya A; Reid, Emma E G EEG; Shinbrot, Eve E; Shirts, Brian H BH; Stein, Lincoln D LD; Teney, Cherie D CD; Timms, Lee L; Um, Caroline Y CY; Van Guelpen, Bethany B; Van Tassel, Megan M; Wang, Xiaolong X; Wheeler, David A DA; Yung, Christina K CK; Hsu, Li L; Ogino, Shuji S; Gsur, Andrea A; Newcomb, Polly A PA; Gallinger, Steven S; Hoffmeister, Michael M; Campbell, Peter T PT; Thibodeau, Stephen N SN; Sun, Wei W; Hudson, Thomas J TJ; Peters, Ulrike U
Evaluation of yield and experiences of age-related molecular investigation for heritable and nonheritable causes of mismatch repair deficient colorectal cancer to identify Lynch syndrome.
International Journal Of Cancer
Vos, Janet R JR; Fakkert, Ingrid E IE; Spruijt, Liesbeth L; Willems, Riki W RW; Langenveld, Sera S; Mensenkamp, Arjen R AR; Leter, Edward M EM; Nagtegaal, Iris D ID; Ligtenberg, Marjolijn J L MJL; Hoogerbrugge, Nicoline N; ,
Publication Date: 2020-10-15
Variant appearance in text: MLH1: 350C>T; Thr117Met
Identification of targeted therapy options for gastric adenocarcinoma by comprehensive analysis of genomic data.
Gastric Cancer : Official Journal Of The International Gastric Cancer Association And The Japanese Gastric Cancer Association
Hescheler, Daniel A DA; Plum, Patrick S PS; Zander, Thomas T; Quaas, Alexander A; Korenkov, Michael M; Gassa, Asmae A; Michel, Maximilian M; Bruns, Christiane J CJ; Alakus, Hakan H
High-sensitivity microsatellite instability assessment for the detection of mismatch repair defects in normal tissue of biallelic germline mismatch repair mutation carriers.
Journal Of Medical Genetics
González-Acosta, Maribel M; Marín, Fátima F; Puliafito, Benjamin B; Bonifaci, Nuria N; Fernández, Anna A; Navarro, Matilde M; Salvador, Hector H; Balaguer, Francesc F; Iglesias, Silvia S; Velasco, Angela A; Grau Garces, Elia E; Moreno, Victor V; Gonzalez-Granado, Luis Ignacio LI; Guerra-García, Pilar P; Ayala, Rosa R; Florkin, Benoît B; Kratz, Christian C; Ripperger, Tim T; Rosenbaum, Thorsten T; Januszkiewicz-Lewandowska, Danuta D; Azizi, Amedeo A AA; Ragab, Iman I; Nathrath, Michaela M; Pander, Hans-Jürgen HJ; Lobitz, Stephan S; Suerink, Manon M; Dahan, Karin K; Imschweiler, Thomas T; Demirsoy, Ugur U; Brunet, Joan J; Lázaro, Conxi C; Rueda, Daniel D; Wimmer, Katharina K; Capellá, Gabriel G; Pineda, Marta M
Publication Date: 2020-04
Variant appearance in text: MLH1: 350C>T; Thr117Met
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
Colorectal carcinoma with double somatic mismatch repair gene inactivation: clinical and pathological characteristics and response to immune checkpoint blockade.
Modern Pathology : An Official Journal Of The United States And Canadian Academy Of Pathology, Inc
Wang, Tao T; Lee, Lik Hang LH; Vyas, Monika M; Zhang, Liying L; Ganesh, Karuna K; Firat, Canan C; Segal, Neil H NH; Desai, Avni A; Hechtman, Jaclyn F JF; Ntiamoah, Peter P; Weiser, Martin R MR; Markowitz, Arnold J AJ; Vakiani, Efsevia E; Klimstra, David S DS; Stadler, Zsofia K ZK; Shia, Jinru J
Implication of DNA repair genes in Lynch-like syndrome.
Familial Cancer
Xicola, Rosa M RM; Clark, Julia R JR; Carroll, Timothy T; Alvikas, Jurgis J; Marwaha, Priti P; Regan, Maureen R MR; Lopez-Giraldez, Francesc F; Choi, Jungmin J; Emmadi, Rajyasree R; Alagiozian-Angelova, Victoria V; Kupfer, Sonia S SS; Ellis, Nathan A NA; Llor, Xavier X
Characterizing Mutational Signatures in Human Cancer Cell Lines Reveals Episodic APOBEC Mutagenesis.
Cell
Petljak, Mia M; Alexandrov, Ludmil B LB; Brammeld, Jonathan S JS; Price, Stacey S; Wedge, David C DC; Grossmann, Sebastian S; Dawson, Kevin J KJ; Ju, Young Seok YS; Iorio, Francesco F; Tubio, Jose M C JMC; Koh, Ching Chiek CC; Georgakopoulos-Soares, Ilias I; Rodríguez-Martín, Bernardo B; Otlu, Burçak B; O'Meara, Sarah S; Butler, Adam P AP; Menzies, Andrew A; Bhosle, Shriram G SG; Raine, Keiran K; Jones, David R DR; Teague, Jon W JW; Beal, Kathryn K; Latimer, Calli C; O'Neill, Laura L; Zamora, Jorge J; Anderson, Elizabeth E; Patel, Nikita N; Maddison, Mark M; Ng, Bee Ling BL; Graham, Jennifer J; Garnett, Mathew J MJ; McDermott, Ultan U; Nik-Zainal, Serena S; Campbell, Peter J PJ; Stratton, Michael R MR
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
Using Somatic Mutations from Tumors to Classify Variants in Mismatch Repair Genes.
American Journal Of Human Genetics
Shirts, Brian H BH; Konnick, Eric Q EQ; Upham, Sarah S; Walsh, Tom T; Ranola, John Michael O JMO; Jacobson, Angela L AL; King, Mary-Claire MC; Pearlman, Rachel R; Hampel, Heather H; Pritchard, Colin C CC
Publication Date: 2018-07-05
Variant appearance in text: MLH1: 350C>T; Thr117Met
Targeted sequencing of 36 known or putative colorectal cancer susceptibility genes.
Molecular Genetics & Genomic Medicine
DeRycke, Melissa S MS; Gunawardena, Shanaka S; Balcom, Jessica R JR; Pickart, Angela M AM; Waltman, Lindsey A LA; French, Amy J AJ; McDonnell, Shannon S; Riska, Shaun M SM; Fogarty, Zachary C ZC; Larson, Melissa C MC; Middha, Sumit S; Eckloff, Bruce W BW; Asmann, Yan W YW; Ferber, Matthew J MJ; Haile, Robert W RW; Gallinger, Steven S; Clendenning, Mark M; Rosty, Christophe C; Win, Aung K AK; Buchanan, Daniel D DD; Hopper, John L JL; Newcomb, Polly A PA; Le Marchand, Loic L; Goode, Ellen L EL; Lindor, Noralane M NM; Thibodeau, Stephen N SN
Publication Date: 2017-09
Variant appearance in text: MLH1: 350C>T; Thr117Met
A survey of the clinicopathological and molecular characteristics of patients with suspected Lynch syndrome in Latin America.
Bmc Cancer
Rossi, Benedito Mauro BM; Palmero, Edenir Inêz EI; López-Kostner, Francisco F; Sarroca, Carlos C; Vaccaro, Carlos Alberto CA; Spirandelli, Florencia F; Ashton-Prolla, Patricia P; Rodriguez, Yenni Y; de Campos Reis Galvão, Henrique H; Reis, Rui Manuel RM; Escremim de Paula, André A; Capochin Romagnolo, Luis Gustavo LG; Alvarez, Karin K; Della Valle, Adriana A; Neffa, Florencia F; Kalfayan, Pablo German PG; Spirandelli, Enrique E; Chialina, Sergio S; Gutiérrez Angulo, Melva M; Castro-Mujica, Maria Del Carmen MDC; Sanchez de Monte, Julio J; Quispe, Richard R; da Silva, Sabrina Daniela SD; Rossi, Norma Teresa NT; Barletta-Carrillo, Claudia C; Revollo, Susana S; Taborga, Ximena X; Morillas, L Lena LL; Tubeuf, Hélène H; Monteiro-Santos, Erika Maria EM; Piñero, Tamara Alejandra TA; Dominguez-Barrera, Constantino C; Wernhoff, Patrik P; Martins, Alexandra A; Hovig, Eivind E; Møller, Pål P; Dominguez-Valentin, Mev M
Multi-omics of 34 colorectal cancer cell lines - a resource for biomedical studies.
Molecular Cancer
Berg, Kaja C G KCG; Eide, Peter W PW; Eilertsen, Ina A IA; Johannessen, Bjarne B; Bruun, Jarle J; Danielsen, Stine A SA; Bjørnslett, Merete M; Meza-Zepeda, Leonardo A LA; Eknæs, Mette M; Lind, Guro E GE; Myklebost, Ola O; Skotheim, Rolf I RI; Sveen, Anita A; Lothe, Ragnhild A RA
Publication Date: 2017-07-06
Variant appearance in text: MLH1: T117M; rs63750781
Spectrum of mismatch repair gene mutations and clinical presentation of Hispanic individuals with Lynch syndrome.
Cancer Genetics
Sunga, Annette Y AY; Ricker, Charité C; Espenschied, Carin R CR; Castillo, Danielle D; Melas, Marilena M; Herzog, Josef J; Bannon, Sarah S; Cruz-Correa, Marcia M; Lynch, Patrick P; Solomon, Ilana I; Gruber, Stephen B SB; Weitzel, Jeffrey N JN
Development and validation of a 36-gene sequencing assay for hereditary cancer risk assessment.
Peerj
Vysotskaia, Valentina S VS; Hogan, Gregory J GJ; Gould, Genevieve M GM; Wang, Xin X; Robertson, Alex D AD; Haas, Kevin R KR; Theilmann, Mark R MR; Spurka, Lindsay L; Grauman, Peter V PV; Lai, Henry H HH; Jeon, Diana D; Haliburton, Genevieve G; Leggett, Matt M; Chu, Clement S CS; Iori, Kevin K; Maguire, Jared R JR; Ready, Kaylene K; Evans, Eric A EA; Kang, Hyunseok P HP; Haque, Imran S IS
Publication Date: 2017
Variant appearance in text: MLH1: 350C>T; Thr117Met