MLH1 c.790+1G>A

Variant ID: 3-37056036-G-A

NM_000249.3(MLH1):c.790+1G>A

This variant was identified in 38 publications

View GRCh38 version.




Publications:


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: 790+1G>A
PubMed Link: 37153042
Variant Present in the following documents:
  • Supplementary_Data.pdf
View BVdb publication page



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: 790+1G>A; rs267607789
PubMed Link: 36922933
Variant Present in the following documents:
  • crc-22-0136-s01.xlsx, sheet 3
View BVdb publication page



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
Publication Date: 2023-02-26

Variant appearance in text: MLH1: 790+1G>A
PubMed Link: 36865205
Variant Present in the following documents:
  • media-10.xlsx, sheet 1
View BVdb publication page



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: 790+1G>A
PubMed Link: 36823319
Variant Present in the following documents:
  • 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6
View BVdb publication page



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: 790+1G>A; rs267607789
PubMed Link: 36816149
Variant Present in the following documents:
  • BCO2-4-156-s001.xlsx, sheet 2
  • BCO2-4-156-s001.xlsx, sheet 1
View BVdb publication page



Unexplained mismatch repair deficiency: Case closed.

Hgg Advances
Eikenboom, Ellis L EL; Moen, Sarah S; van Leeuwen, Lotte L; Geurts-Giele, Willemina R R WRR; Tops, Carli M J CMJ; van Ham, Tjakko J TJ; Dinjens, Winand N M WNM; Dubbink, Hendrikus J HJ; Spaander, Manon C W MCW; Wagner, Anja A
Publication Date: 2023-01-12

Variant appearance in text: MLH1: 790+1G>A
PubMed Link: 36624813
Variant Present in the following documents:
  • mmc1.pdf
  • mmc2.pdf
View BVdb publication page



Clinical and molecular characteristics of kinase domain duplications across diverse cancer types in the Chinese population.

Cancer Medicine
Lai, Xiaojing X; Yu, Ruoying R; Ou, Qiuxiang Q; Bao, Hua H; Wu, Xue X; Shao, Yang Y; Li, Yang Y; Zhang, Ying Y; Ding, Qingqing Q
Publication Date: 2022-11-03

Variant appearance in text: MLH1: 790+1G>A
PubMed Link: 36325957
Variant Present in the following documents:
  • CAM4-12-6009-s003.xlsx, sheet 1
View BVdb publication page



Chromothripsis is a frequent event and underlies typical genetic changes in early T-cell precursor lymphoblastic leukemia in adults.

Leukemia
Arniani, Silvia S; Pierini, Valentina V; Pellanera, Fabrizia F; Matteucci, Caterina C; Di Giacomo, Danika D; Bardelli, Valentina V; Quintini, Martina M; Mavridou, Elena E; Lema Fernandez, Anair Graciela AG; Nardelli, Carlotta C; Moretti, Martina M; Gorello, Paolo P; Crescenzi, Barbara B; Romoli, Silvia S; Beacci, Donatella D; Cerrano, Marco M; Fracchiolla, Nicola N; Sica, Simona S; Forghieri, Fabio F; Giglio, Fabio F; Dargenio, Michela M; Elia, Loredana L; La Starza, Roberta R; Mecucci, Cristina C
Publication Date: 2022-11

Variant appearance in text: MLH1: 790+1G>A
PubMed Link: 35974102
Variant Present in the following documents:
  • 41375_2022_1671_MOESM2_ESM.xlsx, sheet 16
View BVdb publication page



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.

Cancer Medicine
Liu, Binliang B; Yi, Zongbi Z; Guan, Yanfang Y; Ouyang, Quchang Q; Li, Chunxiao C; Guan, Xiuwen X; Lv, Dan D; Li, Lixi L; Zhai, Jingtong J; Qian, Haili H; Xu, Binghe B; Ma, Fei F; Zeng, Yixin Y
Publication Date: 2022-07

Variant appearance in text: MLH1: 790+1G>A
PubMed Link: 35393784
Variant Present in the following documents:
  • CAM4-11-2767-s001.xlsx, sheet 1
View BVdb publication page



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: 790+1G>A; rs267607789
PubMed Link: 34172528
Variant Present in the following documents:
  • jmedgenet-2021-107886supp006.xlsx, sheet 1
View BVdb publication page



Co-occurrence of germline pathogenic variants for different hereditary cancer syndromes in patients with Lynch syndrome.

Cancer Communications (London, England)
Ferrer-Avargues, Rosario R; Castillejo, María Isabel MI; Dámaso, Estela E; Díez-Obrero, Virginia V; Garrigos, Noemí N; Molina, Tatiana T; Codoñer-Alejos, Alan A; Segura, Ángel Á; Sánchez-Heras, Ana Beatriz AB; Castillejo, Adela A; Soto, José Luis JL
Publication Date: 2021-03

Variant appearance in text: MLH1: 790+1G>A; rs267607789
PubMed Link: 33630411
Variant Present in the following documents:
  • CAC2-41-218-s001.xlsx, sheet 3
  • CAC2-41-218-s001.xlsx, sheet 1
View BVdb publication page



Lynch Syndrome-Associated Variants and Cancer Rates in an Ancestrally Diverse Biobank.

Jco Precision Oncology
Rosenblum, Rachel E RE; Ang, Celina C; Suckiel, Sabrina A SA; Soper, Emily R ER; Sigireddi, Meenakshi R MR; Cullina, Sinead S; Belbin, Gillian M GM; Lucas, Aimee L AL; Kenny, Eimear E EE; Abul-Husn, Noura S NS
Publication Date: 2020

Variant appearance in text: MLH1: 790+1G>A
PubMed Link: 33283134
Variant Present in the following documents:
  • Main text
View BVdb publication page



Molecular landscape and efficacy of HER2-targeted therapy in patients with HER2-mutated metastatic breast cancer.

Npj Breast Cancer
Yi, Zongbi Z; Rong, Guohua G; Guan, Yanfang Y; Li, Jin J; Chang, Lianpeng L; Li, Hui H; Liu, Binliang B; Wang, Wenna W; Guan, Xiuwen X; Ouyang, Quchang Q; Li, Lixi L; Zhai, Jingtong J; Li, Chunxiao C; Li, Lifeng L; Xia, Xuefeng X; Yang, Ling L; Qian, Haili H; Yi, Xin X; Xu, Binghe B; Ma, Fei F
Publication Date: 2020

Variant appearance in text: MLH1: 790+1G>A
PubMed Link: 33145402
Variant Present in the following documents:
  • 41523_2020_201_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



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: 790+1G>A
PubMed Link: 32849802
Variant Present in the following documents:
  • Data_Sheet_1.xlsx, sheet 3
View BVdb publication page



Molecular tumor testing in patients with Lynch-like syndrome reveals a de novo mosaic variant of a mismatch repair gene transmitted to offspring.

European Journal Of Human Genetics : Ejhg
Guillerm, Erell E; Svrcek, Magali M; Bardier-Dupas, Armelle A; Basset, Noémie N; Coulet, Florence F; Colas, Chrystelle C
Publication Date: 2020-11

Variant appearance in text: MLH1: 790+1G>A
PubMed Link: 32678338
Variant Present in the following documents:
  • Main text
View BVdb publication page



The GenomeAsia 100K Project enables genetic discoveries across Asia.

Nature
,
Publication Date: 2019-12

Variant appearance in text: MLH1: 790+1G>A; rs267607789
PubMed Link: 31802016
Variant Present in the following documents:
  • 41586_2019_1793_MOESM3_ESM.xlsx, sheet 15
  • 41586_2019_1793_MOESM3_ESM.xlsx, sheet 14
View BVdb publication page



Japanese Society for Cancer of the Colon and Rectum (JSCCR) Guidelines 2016 for the Clinical Practice of Hereditary Colorectal Cancer (Translated Version).

Journal Of The Anus, Rectum And Colon
Ishida, Hideyuki H; Yamaguchi, Tatsuro T; Tanakaya, Kohji K; Akagi, Kiwamu K; Inoue, Yasuhiro Y; Kumamoto, Kensuke K; Shimodaira, Hideki H; Sekine, Shigeki S; Tanaka, Toshiaki T; Chino, Akiko A; Tomita, Naohiro N; Nakajima, Takeshi T; Hasegawa, Hirotoshi H; Hinoi, Takao T; Hirasawa, Akira A; Miyakura, Yasuyuki Y; Murakami, Yoshie Y; Muro, Kei K; Ajioka, Yoichi Y; Hashiguchi, Yojiro Y; Ito, Yoshinori Y; Saito, Yutaka Y; Hamaguchi, Tetsuya T; Ishiguro, Megumi M; Ishihara, Soichiro S; Kanemitsu, Yukihide Y; Kawano, Hiroshi H; Kinugasa, Yusuke Y; Kokudo, Norihiro N; Murofushi, Keiko K; Nakajima, Takako T; Oka, Shiro S; Sakai, Yoshiharu Y; Tsuji, Akihiko A; Uehara, Keisuke K; Ueno, Hideki H; Yamazaki, Kentaro K; Yoshida, Masahiro M; Yoshino, Takayuki T; Boku, Narikazu N; Fujimori, Takahiro T; Itabashi, Michio M; Koinuma, Nobuo N; Morita, Takayuki T; Nishimura, Genichi G; Sakata, Yuh Y; Shimada, Yasuhiro Y; Takahashi, Keiichi K; Tanaka, Shinji S; Tsuruta, Osamu O; Yamaguchi, Toshiharu T; Sugihara, Kenichi K; Watanabe, Toshiaki T; ,
Publication Date: 2018

Variant appearance in text: MLH1: 790+1G>A
PubMed Link: 31773066
Variant Present in the following documents:
  • Main text
  • 2432-3853-2-S1.pdf
View BVdb publication page



Mutation spectrum of germline cancer susceptibility genes among unselected Chinese colorectal cancer patients.

Cancer Management And Research
Gong, Rui R; He, Yuan Y; Liu, Xiao-Yun XY; Wang, Hai-Yun HY; Sun, Li-Yue LY; Yang, Xin-Hua XH; Li, Bin B; Cao, Xin-Kai XK; Ye, Zu-Lu ZL; Kong, Ling-Heng LH; Zhang, Da-Dong DD; Li, Yu-Hong YH; Xu, Rui-Hua RH; Shao, Jian-Yong JY
Publication Date: 2019

Variant appearance in text: MLH1: 790+1G>A
PubMed Link: 31118792
Variant Present in the following documents:
  • Main text
  • cmar-11-3721.pdf
View BVdb publication page



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
Publication Date: 2019-03-07

Variant appearance in text: MLH1: 790+1G>A
PubMed Link: 30849372
Variant Present in the following documents:
  • mmc4.xlsx, sheet 1
View BVdb publication page



Toward automation of germline variant curation in clinical cancer genetics.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Ravichandran, Vignesh V; Shameer, Zarina Z; Kemel, Yelena Y; Walsh, Michael M; Cadoo, Karen K; Lipkin, Steven S; Mandelker, Diana D; Zhang, Liying L; Stadler, Zsofia Z; Robson, Mark M; Offit, Kenneth K; Vijai, Joseph J
Publication Date: 2019-09

Variant appearance in text: MLH1: 790+1G>A
PubMed Link: 30787465
Variant Present in the following documents:
  • NIHMS1525468-supplement-Large_Excel_File.xlsx, sheet 6
View BVdb publication page



Prognostic significance of tumor genotypes and CD8+ infiltrates in stage I-III colorectal cancer.

Oncotarget
Fountzilas, Elena E; Kotoula, Vassiliki V; Tikas, Ioannis I; Manousou, Kyriaki K; Papadopoulou, Kyriaki K; Poulios, Christos C; Karavasilis, Vasilios V; Efstratiou, Ioannis I; Pectasides, Dimitrios D; Papaparaskeva, Kleo K; Varthalitis, Ioannis I; Christodoulou, Christos C; Papatsibas, George G; Chrisafi, Sofia S; Glantzounis, Georgios K GK; Psyrri, Amanda A; Aravantinos, Gerasimos G; Koliou, Georgia-Angeliki GA; Koukoulis, George K GK; Pentheroudakis, George E GE; Fountzilas, George G
Publication Date: 2018-11-02

Variant appearance in text: MLH1: 790+1G>A
PubMed Link: 30479693
Variant Present in the following documents:
  • oncotarget-09-35623-s001.pdf
View BVdb publication page



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: 790+1G>A
PubMed Link: 29887214
Variant Present in the following documents:
  • Main text
View BVdb publication page



Comparative analysis of primary versus relapse/refractory DLBCL identifies shifts in mutation spectrum.

Oncotarget
Greenawalt, Danielle M DM; Liang, Winnie S WS; Saif, Sakina S; Johnson, Justin J; Todorov, Petar P; Dulak, Austin A; Enriquez, Daniel D; Halperin, Rebecca R; Ahmed, Ambar A; Saveliev, Vladislav V; Carpten, John J; Craig, David D; Barrett, J Carl JC; Dougherty, Brian B; Zinda, Michael M; Fawell, Stephen S; Dry, Jonathan R JR; Byth, Kate K
Publication Date: 2017-11-21

Variant appearance in text: MLH1: 790+1G>A; rs267607789
PubMed Link: 29245897
Variant Present in the following documents:
  • oncotarget-08-99237-s002.xlsx, sheet 1
View BVdb publication page



Genomic Evolution of Breast Cancer Metastasis and Relapse.

Cancer Cell
Yates, Lucy R LR; Knappskog, Stian S; Wedge, David D; Farmery, James H R JHR; Gonzalez, Santiago S; Martincorena, Inigo I; Alexandrov, Ludmil B LB; Van Loo, Peter P; Haugland, Hans Kristian HK; Lilleng, Peer Kaare PK; Gundem, Gunes G; Gerstung, Moritz M; Pappaemmanuil, Elli E; Gazinska, Patrycja P; Bhosle, Shriram G SG; Jones, David D; Raine, Keiran K; Mudie, Laura L; Latimer, Calli C; Sawyer, Elinor E; Desmedt, Christine C; Sotiriou, Christos C; Stratton, Michael R MR; Sieuwerts, Anieta M AM; Lynch, Andy G AG; Martens, John W JW; Richardson, Andrea L AL; Tutt, Andrew A; Lønning, Per Eystein PE; Campbell, Peter J PJ
Publication Date: 2017-08-14

Variant appearance in text: MLH1: 790+1G>A
PubMed Link: 28810143
Variant Present in the following documents:
  • mmc4.xlsx, sheet 13
View BVdb publication page



Sources of discordance among germ-line variant classifications in ClinVar.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Yang, Shan S; Lincoln, Stephen E SE; Kobayashi, Yuya Y; Nykamp, Keith K; Nussbaum, Robert L RL; Topper, Scott S
Publication Date: 2017-10

Variant appearance in text: MLH1: 790+1G>A
PubMed Link: 28569743
Variant Present in the following documents:
  • gim201760x7.xlsx, sheet 2
View BVdb publication page



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
Publication Date: 2017-05-24

Variant appearance in text: MLH1: 790+1G>A
PubMed Link: 28539123
Variant Present in the following documents:
  • 13073_2017_434_MOESM1_ESM.xlsx, sheet 5
View BVdb publication page



Suppressors and activators of JAK-STAT signaling at diagnosis and relapse of acute lymphoblastic leukemia in Down syndrome.

Proceedings Of The National Academy Of Sciences Of The United States Of America
Schwartzman, Omer O; Savino, Angela Maria AM; Gombert, Michael M; Palmi, Chiara C; Cario, Gunnar G; Schrappe, Martin M; Eckert, Cornelia C; von Stackelberg, Arend A; Huang, Jin-Yan JY; Hameiri-Grossman, Michal M; Avigad, Smadar S; Te Kronnie, Geertruy G; Geron, Ifat I; Birger, Yehudit Y; Rein, Avigail A; Zarfati, Giulia G; Fischer, Ute U; Mukamel, Zohar Z; Stanulla, Martin M; Biondi, Andrea A; Cazzaniga, Giovanni G; Vetere, Amedeo A; Wagner, Bridget K BK; Chen, Zhu Z; Chen, Sai-Juan SJ; Tanay, Amos A; Borkhardt, Arndt A; Izraeli, Shai S
Publication Date: 2017-05-16

Variant appearance in text: rs267607789
PubMed Link: 28461505
Variant Present in the following documents:
  • Main text
View BVdb publication page



A Landscape of Pharmacogenomic Interactions in Cancer.

Cell
Iorio, Francesco F; Knijnenburg, Theo A TA; Vis, Daniel J DJ; Bignell, Graham R GR; Menden, Michael P MP; Schubert, Michael M; Aben, Nanne N; Gonçalves, Emanuel E; Barthorpe, Syd S; Lightfoot, Howard H; Cokelaer, Thomas T; Greninger, Patricia P; van Dyk, Ewald E; Chang, Han H; de Silva, Heshani H; Heyn, Holger H; Deng, Xianming X; Egan, Regina K RK; Liu, Qingsong Q; Mironenko, Tatiana T; Mitropoulos, Xeni X; Richardson, Laura L; Wang, Jinhua J; Zhang, Tinghu T; Moran, Sebastian S; Sayols, Sergi S; Soleimani, Maryam M; Tamborero, David D; Lopez-Bigas, Nuria N; Ross-Macdonald, Petra P; Esteller, Manel M; Gray, Nathanael S NS; Haber, Daniel A DA; Stratton, Michael R MR; Benes, Cyril H CH; Wessels, Lodewyk F A LFA; Saez-Rodriguez, Julio J; McDermott, Ultan U; Garnett, Mathew J MJ
Publication Date: 2016-07-28

Variant appearance in text: MLH1: 790+1G>A
PubMed Link: 27397505
Variant Present in the following documents:
  • mmc3.xlsx, sheet 3
View BVdb publication page



Whole Gene Capture Analysis of 15 CRC Susceptibility Genes in Suspected Lynch Syndrome Patients.

Plos One
Jansen, Anne M L AM; Geilenkirchen, Marije A MA; van Wezel, Tom T; Jagmohan-Changur, Shantie C SC; Ruano, Dina D; van der Klift, Heleen M HM; van den Akker, Brendy E W M BE; Laros, Jeroen F J JF; van Galen, Michiel M; Wagner, Anja A; Letteboer, Tom G W TG; Gómez-García, Encarna B EB; Tops, Carli M J CM; Vasen, Hans F HF; Devilee, Peter P; Hes, Frederik J FJ; Morreau, Hans H; Wijnen, Juul T JT
Publication Date: 2016

Variant appearance in text: MLH1: 790+1G>A
PubMed Link: 27300758
Variant Present in the following documents:
  • Main text
  • pone.0157381.s001.xlsx, sheet 1
  • pone.0157381.pdf
View BVdb publication page



Germline mutations in PMS2 and MLH1 in individuals with solitary loss of PMS2 expression in colorectal carcinomas from the Colon Cancer Family Registry Cohort.

Bmj Open
Rosty, Christophe C; Clendenning, Mark M; Walsh, Michael D MD; Eriksen, Stine V SV; Southey, Melissa C MC; Winship, Ingrid M IM; Macrae, Finlay A FA; Boussioutas, Alex A; Poplawski, Nicola K NK; Parry, Susan S; Arnold, Julie J; Young, Joanne P JP; Casey, Graham G; Haile, Robert W RW; Gallinger, Steven S; Le Marchand, Loïc L; Newcomb, Polly A PA; Potter, John D JD; DeRycke, Melissa M; Lindor, Noralane M NM; Thibodeau, Stephen N SN; Baron, John A JA; Win, Aung Ko AK; Hopper, John L JL; Jenkins, Mark A MA; Buchanan, Daniel D DD; ,
Publication Date: 2016-02-19

Variant appearance in text: MLH1: 790+1G>A
PubMed Link: 26895986
Variant Present in the following documents:
  • Main text
View BVdb publication page



Combined mismatch repair and POLE/POLD1 defects explain unresolved suspected Lynch syndrome cancers.

European Journal Of Human Genetics : Ejhg
Jansen, Anne Ml AM; van Wezel, Tom T; van den Akker, Brendy Ewm BE; Ventayol Garcia, Marina M; Ruano, Dina D; Tops, Carli Mj CM; Wagner, Anja A; Letteboer, Tom Gw TG; Gómez-García, Encarna B EB; Devilee, Peter P; Wijnen, Juul T JT; Hes, Frederik J FJ; Morreau, Hans H
Publication Date: 2016-07

Variant appearance in text: MLH1: 790+1G>A
PubMed Link: 26648449
Variant Present in the following documents:
  • ejhg2015252x2.xlsx, sheet 1
View BVdb publication page



A Hyperactive Signalosome in Acute Myeloid Leukemia Drives Addiction to a Tumor-Specific Hsp90 Species.

Cell Reports
Zong, Hongliang H; Gozman, Alexander A; Caldas-Lopes, Eloisi E; Taldone, Tony T; Sturgill, Eric E; Brennan, Sarah S; Ochiana, Stefan O SO; Gomes-DaGama, Erica M EM; Sen, Siddhartha S; Rodina, Anna A; Koren, John J; Becker, Michael W MW; Rudin, Charles M CM; Melnick, Ari A; Levine, Ross L RL; Roboz, Gail J GJ; Nimer, Stephen D SD; Chiosis, Gabriela G; Guzman, Monica L ML
Publication Date: 2015-12-15

Variant appearance in text: MLH1: 790+1G>A
PubMed Link: 26628369
Variant Present in the following documents:
  • NIHMS744883-supplement-supplement_1.pdf
View BVdb publication page



The mutational spectrum of Lynch syndrome in cyprus.

Plos One
Loizidou, Maria A MA; Neophytou, Ioanna I; Papamichael, Demetris D; Kountourakis, Panteleimon P; Vassiliou, Vassilios V; Marcou, Yiola Y; Kakouri, Eleni E; Ioannidis, Georgios G; Philippou, Chrystalla C; Spanou, Elena E; Tanteles, George A GA; Anastasiadou, Violetta V; Hadjisavvas, Andreas A; Kyriacou, Kyriacos K
Publication Date: 2014

Variant appearance in text: MLH1: 790+1G>A
PubMed Link: 25133505
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Systematic study on genetic and epimutational profile of a cohort of Amsterdam criteria-defined Lynch Syndrome in Singapore.

Plos One
Liu, Yanqun Y; Chew, Min Hoe MH; Goh, Xue Wei XW; Tan, Soo Yong SY; Loi, Carol Tien Tau CT; Tan, Yuen Ming YM; Law, Hai Yang HY; Koh, Poh Koon PK; Tang, Choong Leong CL
Publication Date: 2014

Variant appearance in text: MLH1: 790+1G>A
PubMed Link: 24710284
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Screening of the DNA mismatch repair genes MLH1, MSH2 and MSH6 in a Greek cohort of Lynch syndrome suspected families.

Bmc Cancer
Thodi, Georgia G; Fostira, Florentia F; Sandaltzopoulos, Raphael R; Nasioulas, George G; Grivas, Anastasios A; Boukovinas, Ioannis I; Mylonaki, Maria M; Panopoulos, Christos C; Magic, Mirjana Brankovic MB; Fountzilas, George G; Yannoukakos, Drakoulis D
Publication Date: 2010-10-11

Variant appearance in text: MLH1: 790+1G>A
PubMed Link: 20937110
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  • 1471-2407-10-544.pdf
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Current clinical criteria for Lynch syndrome are not sensitive enough to identify MSH6 mutation carriers.

Journal Of Medical Genetics
Sjursen, Wenche W; Haukanes, Bjørn Ivar BI; Grindedal, Eli Marie EM; Aarset, Harald H; Stormorken, Astrid A; Engebretsen, Lars F LF; Jonsrud, Christoffer C; Bjørnevoll, Inga I; Andresen, Per Arne PA; Ariansen, Sarah S; Lavik, Liss Anne S LA; Gilde, Bodil B; Bowitz-Lothe, Inger Marie IM; Maehle, Lovise L; Møller, Pål P
Publication Date: 2010-09

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PubMed Link: 20587412
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Hereditary colorectal cancer in china.

Hereditary Cancer In Clinical Practice
Shu, Zheng Z; Yanqin, Huang H; Ying, Yuan Y
Publication Date: 2005-11-15

Variant appearance in text: MLH1: 790+1G>A
PubMed Link: 20223042
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  • 1897-4287-3-4-155.pdf
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Hereditary non-polyposis colorectal cancer: clinical and molecular evidence for a new entity of hereditary colorectal cancer.

Gut
Mueller-Koch, Y Y; Vogelsang, H H; Kopp, R R; Lohse, P P; Keller, G G; Aust, D D; Muders, M M; Gross, M M; Daum, J J; Schiemann, U U; Grabowski, M M; Scholz, M M; Kerker, B B; Becker, I I; Henke, G G; Holinski-Feder, E E
Publication Date: 2005-12

Variant appearance in text: MLH1: 790+1G>A
PubMed Link: 15955785
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