MLH1 c.793C>T ;(p.R265C)

Variant ID: 3-37058999-C-T

NM_000249.3(MLH1):c.793C>T;(p.R265C)

This variant was identified in 80 publications

View GRCh38 version.




Publications:


Evaluation of AlphaFold structure-based protein stability prediction on missense variations in cancer.

Frontiers In Genetics
Keskin Karakoyun, Hilal H; Yüksel, Şirin K ŞK; Amanoglu, Ilayda I; Naserikhojasteh, Lara L; Yeşilyurt, Ahmet A; Yakıcıer, Cengiz C; Timuçin, Emel E; Akyerli, Cemaliye B CB
Publication Date: 2023

Variant appearance in text: MLH1: R265C
PubMed Link: 36896237
Variant Present in the following documents:
  • Table1.xlsx, sheet 1
View BVdb publication page



Integration of deep learning with Ramachandran plot molecular dynamics simulation for genetic variant classification.

Iscience
Tam, Benjamin B; Qin, Zixin Z; Zhao, Bojin B; Wang, San Ming SM; Lei, Chon Lok CL
Publication Date: 2023-03-17

Variant appearance in text: MLH1: 793C>T; R265C
PubMed Link: 36879825
Variant Present in the following documents:
  • mmc3.xlsx, sheet 2
  • mmc4.xlsx, sheet 2
  • mmc2.xlsx, sheet 2
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: 793C>T
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: 793C>T; Arg265Cys
PubMed Link: 36823319
Variant Present in the following documents:
  • 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6
View BVdb publication page



The clinical utility of integrative genomics in childhood cancer extends beyond targetable mutations.

Nature Cancer
Villani, Anita A; Davidson, Scott S; Kanwar, Nisha N; Lo, Winnie W WW; Li, Yisu Y; Cohen-Gogo, Sarah S; Fuligni, Fabio F; Edward, Lisa-Monique LM; Light, Nicholas N; Layeghifard, Mehdi M; Harripaul, Ricardo R; Waldman, Larissa L; Gallinger, Bailey B; Comitani, Federico F; Brunga, Ledia L; Hayes, Reid R; Anderson, Nathaniel D ND; Ramani, Arun K AK; Yuki, Kyoko E KE; Blay, Sasha S; Johnstone, Brittney B; Inglese, Cara C; Hammad, Rawan R; Goudie, Catherine C; Shuen, Andrew A; Wasserman, Jonathan D JD; Venier, Rosemarie E RE; Eliou, Marianne M; Lorenti, Miranda M; Ryan, Carol Ann CA; Braga, Michael M; Gloven-Brown, Meagan M; Han, Jianan J; Montero, Maria M; Spatare, Famida F; Whitlock, James A JA; Scherer, Stephen W SW; Chun, Kathy K; Somerville, Martin J MJ; Hawkins, Cynthia C; Abdelhaleem, Mohamed M; Ramaswamy, Vijay V; Somers, Gino R GR; Kyriakopoulou, Lianna L; Hitzler, Johann J; Shago, Mary M; Morgenstern, Daniel A DA; Tabori, Uri U; Meyn, Stephen S; Irwin, Meredith S MS; Malkin, David D; Shlien, Adam A
Publication Date: 2022-12-30

Variant appearance in text: MLH1: R265C
PubMed Link: 36585449
Variant Present in the following documents:
  • 43018_2022_474_MOESM12_ESM.xlsx, sheet 6
  • 43018_2022_474_MOESM3_ESM.xlsx, sheet 10
  • 43018_2022_474_MOESM7_ESM.xlsx, sheet 6
  • 43018_2022_474_MOESM7_ESM.xlsx, sheet 10
  • 43018_2022_474_MOESM10_ESM.xlsx, sheet 10
  • 43018_2022_474_MOESM2_ESM.xlsx, sheet 10
  • 43018_2022_474_MOESM2_ESM.xlsx, sheet 6
  • 43018_2022_474_MOESM3_ESM.xlsx, sheet 6
  • 43018_2022_474_MOESM10_ESM.xlsx, sheet 6
  • 43018_2022_474_MOESM12_ESM.xlsx, sheet 10
View BVdb publication page



Saturation-scale functional evidence supports clinical variant interpretation in Lynch syndrome.

Genome Biology
Scott, Anthony A; Hernandez, Felicia F; Chamberlin, Adam A; Smith, Cathy C; Karam, Rachid R; Kitzman, Jacob O JO
Publication Date: 2022-12-22

Variant appearance in text: MLH1: 793C>T; R265C
PubMed Link: 36550560
Variant Present in the following documents:
  • 13059_2022_2839_MOESM4_ESM.xlsx, sheet 1
View BVdb publication page



Functional characterization of MLH1 missense variants unveils mechanisms of pathogenicity and clarifies role in cancer.

Plos One
Mahdouani, Marwa M; Ben Ahmed, Slim S; Hmila, Fahmi F; Rais, Henda H; Ben Sghaier, Rihab R; Saad, Hanene H; Ben Said, Mariem M; Masmoudi, Saber S; Hmida, Dorra D; Brieger, Angela A; Zeuzem, Stefan S; Saad, Ali A; Gribaa, Moez M; Plotz, Guido G
Publication Date: 2022

Variant appearance in text: MLH1: Arg265Cys
PubMed Link: 36454741
Variant Present in the following documents:
  • pone.0278283.pdf
View BVdb publication page



Analysis of matched primary and recurrent BRCA1/2 mutation-associated tumors identifies recurrence-specific drivers.

Nature Communications
Shah, Jennifer B JB; Pueschl, Dana D; Wubbenhorst, Bradley B; Fan, Mengyao M; Pluta, John J; D'Andrea, Kurt K; Hubert, Anna P AP; Shilan, Jake S JS; Zhou, Wenting W; Kraya, Adam A AA; Llop Guevara, Alba A; Ruan, Catherine C; Serra, Violeta V; Balmaña, Judith J; Feldman, Michael M; Morin, Pat J PJ; Nayak, Anupma A; Maxwell, Kara N KN; Domchek, Susan M SM; Nathanson, Katherine L KL
Publication Date: 2022-11-07

Variant appearance in text: MLH1: R265C
PubMed Link: 36344544
Variant Present in the following documents:
  • 41467_2022_34523_MOESM4_ESM.xlsx, sheet 2
View BVdb publication page



Ultrasensitive tumour-agnostic non-invasive detection of colorectal cancer recurrence using ctDNA methylation.

Clinical And Translational Medicine
Xiao, Yu Y; Wang, Xiaodong X; Weng, Hong H; Ding, Zhao Z; Qian, Kaiyu K; Jin, Wan W; Lu, Sen S; Ju, Lingao L; He, Zhiwen Z; Wang, Gang G; Xie, Xiaoyu X; Liu, Dongmei D; Fan, Zhou Z; Wu, Kai K; Li, Sheng S; Guo, Huanhuan H; Qian, Guofeng G; Jiang, Wei W; Leng, Yunji Y; Zhao, Junpeng J; Cao, Xinyue X; Peng, Minsheng M; Jiang, Congqing C; Li, Li L; Zhang, Yi Y; Wang, Xinghuan X
Publication Date: 2022-09

Variant appearance in text: MLH1: 793C>T; R265C
PubMed Link: 36103400
Variant Present in the following documents:
  • CTM2-12-e1015-s002.xlsx, sheet 1
View BVdb publication page



Integrative molecular profiling identifies two molecularly and clinically distinct subtypes of blastic plasmacytoid dendritic cell neoplasm.

Blood Cancer Journal
Künstner, Axel A; Schwarting, Julian J; Witte, Hanno M HM; Bernard, Veronica V; Stölting, Stephanie S; Kusch, Kathrin K; Nagarathinam, Kumar K; von Bubnoff, Nikolas N; Murga Penas, Eva Maria EM; Merz, Hartmut H; Busch, Hauke H; Feller, Alfred C AC; Gebauer, Niklas N
Publication Date: 2022-07-04

Variant appearance in text: MLH1: R265C; rs63751194
PubMed Link: 35788129
Variant Present in the following documents:
  • 41408_2022_699_MOESM3_ESM.xlsx, sheet 1
View BVdb publication page



Pathophysiologic and clinical implications of molecular profiles resultant from deletion 5q.

Ebiomedicine
Adema, Vera V; Palomo, Laura L; Walter, Wencke W; Mallo, Mar M; Hutter, Stephan S; La Framboise, Thomas T; Arenillas, Leonor L; Meggendorfer, Manja M; Radivoyevitch, Tomas T; Xicoy, Blanca B; Pellagatti, Andrea A; Haferlach, Claudia C; Boultwood, Jacqueline J; Kern, Wolfgang W; Visconte, Valeria V; Sekeres, Mikkael M; Barnard, John J; Haferlach, Torsten T; Solé, Francesc F; Maciejewski, Jaroslaw P JP
Publication Date: 2022-06

Variant appearance in text: MLH1: 793C>T; Arg265Cys
PubMed Link: 35617825
Variant Present in the following documents:
  • mmc3.xlsx, sheet 1
View BVdb publication page



Construction and validation of an immunoediting-based optimized neoantigen load (ioTNL) model to predict the response and prognosis of immune checkpoint therapy in various cancers.

Aging
Su, Xiaofan X; Jin, Haoxuan H; Wang, Jiaqian J; Lu, Huiping H; Gu, Tiantian T; Gao, Zhibo Z; Li, Manxiang M
Publication Date: 2022-05-25

Variant appearance in text: MLH1: 793C>T; R265C
PubMed Link: 35613927
Variant Present in the following documents:
  • aging-14-204101-s004.xlsx, sheet 1
View BVdb publication page



Author Correction: Integrative molecular and clinical profiling of acral melanoma links focal amplification of 22q11.21 to metastasis.

Nature Communications
Farshidfar, Farshad F; Rhrissorrakrai, Kahn K; Levovitz, Chaya C; Peng, Cong C; Knight, James J; Bacchiocchi, Antonella A; Su, Juan J; Yin, Mingzhu M; Sznol, Mario M; Ariyan, Stephan S; Clune, James J; Olino, Kelly K; Parida, Laxmi L; Nikolaus, Joerg J; Zhang, Meiling M; Zhao, Shuang S; Wang, Yan Y; Huang, Gang G; Wan, Miaojian M; Li, Xianan X; Cao, Jian J; Yan, Qin Q; Chen, Xiang X; Newman, Aaron M AM; Halaban, Ruth R
Publication Date: 2022-05-10

Variant appearance in text: MLH1: R265C
PubMed Link: 35538087
Variant Present in the following documents:
  • 41467_2022_30446_MOESM1_ESM.xlsx, sheet 3
View BVdb publication page



Are transient protein-protein interactions more dispensable?

Plos Computational Biology
Ghadie, Mohamed Ali MA; Xia, Yu Y
Publication Date: 2022-04

Variant appearance in text: MLH1: 793C>T; Arg265Cys
PubMed Link: 35404956
Variant Present in the following documents:
  • pcbi.1010013.s002.xlsx, sheet 4
View BVdb publication page



Integrative molecular and clinical profiling of acral melanoma links focal amplification of 22q11.21 to metastasis.

Nature Communications
Farshidfar, Farshad F; Rhrissorrakrai, Kahn K; Levovitz, Chaya C; Peng, Cong C; Knight, James J; Bacchiocchi, Antonella A; Su, Juan J; Yin, Mingzhu M; Sznol, Mario M; Ariyan, Stephan S; Clune, James J; Olino, Kelly K; Parida, Laxmi L; Nikolaus, Joerg J; Zhang, Meiling M; Zhao, Shuang S; Wang, Yan Y; Huang, Gang G; Wan, Miaojian M; Li, Xianan X; Cao, Jian J; Yan, Qin Q; Chen, Xiang X; Newman, Aaron M AM; Halaban, Ruth R
Publication Date: 2022-02-23

Variant appearance in text: MLH1: R265C
PubMed Link: 35197475
Variant Present in the following documents:
  • 41467_2022_28566_MOESM5_ESM.xlsx, sheet 3
View BVdb publication page



PMS2 variant results in loss of ATPase activity without compromising mismatch repair.

Molecular Genetics & Genomic Medicine
D'Arcy, Brandon M BM; Arrington, Jennifer J; Weisman, Justin J; McClellan, Steven B SB; Vandana, ; Yang, Zhengrong Z; Deivanayagam, Champion C; Blount, Jessa J; Prakash, Aishwarya A
Publication Date: 2022-02-21

Variant appearance in text: MLH1: Arg265Cys
PubMed Link: 35189042
Variant Present in the following documents:
  • MGG3-10-e1908.pdf
View BVdb publication page



Circulating tumor DNA (ctDNA) serial analysis during progression on PD-1 blockade and later CTLA-4 rescue in patients with mismatch repair deficient metastatic colorectal cancer.

Journal For Immunotherapy Of Cancer
Kasi, Pashtoon Murtaza PM; Budde, Griffin G; Krainock, Michael M; Aushev, Vasily N VN; Koyen Malashevich, Allyson A; Malhotra, Meenakshi M; Olshan, Perry P; Billings, Paul R PR; Aleshin, Alexey A
Publication Date: 2022-01

Variant appearance in text: MLH1: R265C
PubMed Link: 35101943
Variant Present in the following documents:
  • Main text
  • jitc-2021-003312.pdf
View BVdb publication page



Circulating tumor DNA (ctDNA) serial analysis during progression on PD-1 blockade and later CTLA-4 rescue in patients with mismatch repair deficient metastatic colorectal cancer.

Journal For Immunotherapy Of Cancer
Kasi, Pashtoon Murtaza PM; Budde, Griffin G; Krainock, Michael M; Aushev, Vasily N VN; Koyen Malashevich, Allyson A; Malhotra, Meenakshi M; Olshan, Perry P; Billings, Paul R PR; Aleshin, Alexey A
Publication Date: 2022-01

Variant appearance in text: MLH1: R265C
PubMed Link: 35101943
Variant Present in the following documents:
  • Main text
  • jitc-2021-003312.pdf
View BVdb publication page



Low neoantigen expression and poor T-cell priming underlie early immune escape in colorectal cancer.

Nature Cancer
Westcott, Peter M K PMK; Sacks, Nathan J NJ; Schenkel, Jason M JM; Ely, Zackery A ZA; Smith, Olivia O; Hauck, Haley H; Jaeger, Alex M AM; Zhang, Daniel D; Backlund, Coralie M CM; Beytagh, Mary C MC; Patten, J J JJ; Elbashir, Ryan R; Eng, George G; Irvine, Darrell J DJ; Yilmaz, Omer H OH; Jacks, Tyler T
Publication Date: 2021-10

Variant appearance in text: MLH1: 793C>T; Arg265Cys
PubMed Link: 34738089
Variant Present in the following documents:
  • NIHMS1725490-supplement-Source_Data_Figure_1.xlsx, sheet 1
View BVdb publication page



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
Publication Date: 2021

Variant appearance in text: MLH1: R265C
PubMed Link: 34630336
Variant Present in the following documents:
  • Table_1.xlsx, sheet 2
View BVdb publication page



A computational and structural analysis of germline and somatic variants affecting the DDR mechanism, and their impact on human diseases.

Scientific Reports
Magraner-Pardo, Lorena L; Laskowski, Roman A RA; Pons, Tirso T; Thornton, Janet M JM
Publication Date: 2021-07-12

Variant appearance in text: MLH1: 793C>T; Arg265Cys; rs63751194
PubMed Link: 34253785
Variant Present in the following documents:
  • 41598_2021_93715_MOESM3_ESM.xlsx, sheet 4
  • 41598_2021_93715_MOESM2_ESM.xlsx, sheet 7
  • 41598_2021_93715_MOESM3_ESM.xlsx, sheet 6
  • 41598_2021_93715_MOESM2_ESM.xlsx, sheet 10
  • 41598_2021_93715_MOESM3_ESM.xlsx, sheet 2
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: 793C>T; Arg265Cys; rs63751194
PubMed Link: 34172528
Variant Present in the following documents:
  • jmedgenet-2021-107886supp009.xlsx, sheet 1
  • jmedgenet-2021-107886supp006.xlsx, sheet 1
View BVdb publication page



A next-generation sequencing-based strategy combining microsatellite instability and tumor mutation burden for comprehensive molecular diagnosis of advanced colorectal cancer.

Bmc Cancer
Xiao, Jian J; Li, Wenyun W; Huang, Yan Y; Huang, Mengli M; Li, Shanshan S; Zhai, Xiaohui X; Zhao, Jing J; Gao, Chan C; Xie, Wenzhuan W; Qin, Hao H; Cai, Shangli S; Bai, Yuezong Y; Lan, Ping P; Zou, Yifeng Y
Publication Date: 2021-03-16

Variant appearance in text: MLH1: R265C
PubMed Link: 33726687
Variant Present in the following documents:
  • Main text
  • 12885_2021_Article_7942.pdf
  • 12885_2021_7942_MOESM3_ESM.xlsx, sheet 1
View BVdb publication page



A modified screening strategy for Lynch syndrome among MLH1-deficient CRCs: Analysis from consecutive Chinese patients in a single center.

Translational Oncology
Wang, Wenmiao W; Ying, Jianming J; Shi, Susheng S; Ye, Qiurong Q; Zou, Shuangmei S; Dong, Lin L; Lyu, Ning N
Publication Date: 2021-05

Variant appearance in text: MLH1: 793C>T; Arg265Cys
PubMed Link: 33676177
Variant Present in the following documents:
  • Main text
  • main.pdf
View BVdb publication page



Assessment of Clinical Benefit of Integrative Genomic Profiling in Advanced Solid Tumors.

Jama Oncology
Cobain, Erin F EF; Wu, Yi-Mi YM; Vats, Pankaj P; Chugh, Rashmi R; Worden, Francis F; Smith, David C DC; Schuetze, Scott M SM; Zalupski, Mark M MM; Sahai, Vaibhav V; Alva, Ajjai A; Schott, Anne F AF; Caram, Megan E V MEV; Hayes, Daniel F DF; Stoffel, Elena M EM; Jacobs, Michelle F MF; Kumar-Sinha, Chandan C; Cao, Xuhong X; Wang, Rui R; Lucas, David D; Ning, Yu Y; Rabban, Erica E; Bell, Janice J; Camelo-Piragua, Sandra S; Udager, Aaron M AM; Cieslik, Marcin M; Lonigro, Robert J RJ; Kunju, Lakshmi P LP; Robinson, Dan R DR; Talpaz, Moshe M; Chinnaiyan, Arul M AM
Publication Date: 2021-04-01

Variant appearance in text: MLH1: R265C
PubMed Link: 33630025
Variant Present in the following documents:
  • jamaoncol-e207987-s004.xlsx, sheet 2
View BVdb publication page



Control of replication stress and mitosis in colorectal cancer stem cells through the interplay of PARP1, MRE11 and RAD51.

Cell Death And Differentiation
Manic, Gwenola G; Musella, Martina M; Corradi, Francesca F; Sistigu, Antonella A; Vitale, Sara S; Soliman Abdel Rehim, Sara S; Mattiello, Luca L; Malacaria, Eva E; Galassi, Claudia C; Signore, Michele M; Pallocca, Matteo M; Scalera, Stefano S; Goeman, Frauke F; De Nicola, Francesca F; Guarracino, Andrea A; Pennisi, Rosa R; Antonangeli, Fabrizio F; Sperati, Francesca F; Baiocchi, Marta M; Biffoni, Mauro M; Fanciulli, Maurizio M; Maugeri-Saccà, Marcello M; Franchitto, Annapaola A; Pichierri, Pietro P; De Maria, Ruggero R; Vitale, Ilio I
Publication Date: 2021-07

Variant appearance in text: MLH1: 793C>T; Arg265Cys
PubMed Link: 33531658
Variant Present in the following documents:
  • 41418_2020_733_MOESM5_ESM.xlsx, sheet 1
View BVdb publication page



Pathogenic Germline Mutations of DNA Repair Pathway Components in Early-Onset Sporadic Colorectal Polyp and Cancer Patients.

Cancers
Chang, Pi-Yueh PY; Chang, Shih-Cheng SC; Wang, Mei-Chia MC; Chen, Jinn-Shiun JS; Tsai, Wen-Sy WS; You, Jeng-Fu JF; Chen, Chia-Chun CC; Liu, Hsiu-Ling HL; Chiang, Jy-Ming JM
Publication Date: 2020-11-28

Variant appearance in text: MLH1: Arg265Cys
PubMed Link: 33260537
Variant Present in the following documents:
  • Main text
  • cancers-12-03560.pdf
  • cancers-12-03560-s001.pdf
View BVdb publication page



Integrated molecular drivers coordinate biological and clinical states in melanoma.

Nature Genetics
Conway, Jake R JR; Dietlein, Felix F; Taylor-Weiner, Amaro A; AlDubayan, Saud S; Vokes, Natalie N; Keenan, Tanya T; Reardon, Brendan B; He, Meng Xiao MX; Margolis, Claire A CA; Weirather, Jason L JL; Haq, Rizwan R; Schilling, Bastian B; Stephen Hodi, F F; Schadendorf, Dirk D; Liu, David D; Van Allen, Eliezer M EM
Publication Date: 2020-12

Variant appearance in text: MLH1: 793C>T; R265C
PubMed Link: 33230298
Variant Present in the following documents:
  • NIHMS1637640-supplement-SuppData1.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: 793C>T; Arg265Cys
PubMed Link: 32849802
Variant Present in the following documents:
  • Main text
  • Data_Sheet_1.xlsx, sheet 1
  • fgene-11-00798.pdf
  • Data_Sheet_1.xlsx, sheet 3
View BVdb publication page



Analysis of CRISPR-Cas9 screens identifies genetic dependencies in melanoma.

Pigment Cell & Melanoma Research
Christodoulou, Eirini E; Rashid, Mamunur M; Pacini, Clare C; Droop, Alastair A; Robertson, Holly H; Groningen, Tim van TV; Teunisse, Amina F A S AFAS; Iorio, Francesco F; Jochemsen, Aart G AG; Adams, David J DJ; Doorn, Remco van RV
Publication Date: 2021-01

Variant appearance in text: MLH1: R265C
PubMed Link: 32767816
Variant Present in the following documents:
  • PCMR-34-122-s006.xlsx, sheet 1
View BVdb publication page



Genomic Alterations of NTRK, POLE, ERBB2, and Microsatellite Instability Status in Chinese Patients with Colorectal Cancer.

The Oncologist
Guo, Yun Y; Guo, Xian-Ling XL; Wang, Shuang S; Chen, Xinyu X; Shi, Jiaochun J; Wang, Jian J; Wang, Kai K; Klempner, Samuel J SJ; Wang, Weifeng W; Xiao, Min M
Publication Date: 2020-11

Variant appearance in text: MLH1: R265C
PubMed Link: 32627883
Variant Present in the following documents:
  • Main text
  • ONCO-25-e1671.pdf
View BVdb publication page



mTOR Signaling and SREBP Activity Increase FADS2 Expression and Can Activate Sapienate Biosynthesis.

Cell Reports
Triki, Mouna M; Rinaldi, Gianmarco G; Planque, Melanie M; Broekaert, Dorien D; Winkelkotte, Alina M AM; Maier, Carina R CR; Janaki Raman, Sudha S; Vandekeere, Anke A; Van Elsen, Joke J; Orth, Martin F MF; Grünewald, Thomas G P TGP; Schulze, Almut A; Fendt, Sarah-Maria SM
Publication Date: 2020-06-23

Variant appearance in text: MLH1: R265C
PubMed Link: 32579932
Variant Present in the following documents:
  • mmc5.xlsx, sheet 3
View BVdb publication page



pyCancerSig: subclassifying human cancer with comprehensive single nucleotide, structural and microsatellite mutational signature deconstruction from whole genome sequencing.

Bmc Bioinformatics
Thutkawkorapin, Jessada J; Eisfeldt, Jesper J; Tham, Emma E; Nilsson, Daniel D
Publication Date: 2020-04-03

Variant appearance in text: MLH1: Arg265Cys
PubMed Link: 32245405
Variant Present in the following documents:
  • 12859_2020_3451_MOESM6_ESM.xlsx, sheet 1
View BVdb publication page



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
Publication Date: 2020-07

Variant appearance in text: MLH1: R265C
PubMed Link: 32107691
Variant Present in the following documents:
  • 10120_2020_1045_MOESM1_ESM.xlsx, sheet 12
View BVdb publication page



Development and Validation of a 34-Gene Inherited Cancer Predisposition Panel Using Next-Generation Sequencing.

Biomed Research International
Rosenthal, Sun Hee SH; Sun, Weimin W; Zhang, Ke K; Liu, Yan Y; Nguyen, Quoclinh Q; Gerasimova, Anna A; Nery, Camille C; Cheng, Linda L; Castonguay, Carolyn C; Hiller, Elaine E; Li, James J; Elzinga, Christopher C; Wolfson, David D; Smolgovsky, Alla A; Chen, Rebecca R; Buller-Burckle, Arlene A; Catanese, Joseph J; Grupe, Andrew A; Lacbawan, Felicitas F; Owen, Renius R
Publication Date: 2020

Variant appearance in text: MLH1: 793C>T; Arg265Cys
PubMed Link: 32090079
Variant Present in the following documents:
  • 3289023.f1.xlsx, sheet 4
  • BMRI2020-3289023.pdf
View BVdb publication page



Diversity spectrum analysis identifies mutation-specific effects of cancer driver genes.

Communications Biology
Dong, Xiaobao X; Huang, Dandan D; Yi, Xianfu X; Zhang, Shijie S; Wang, Zhao Z; Yan, Bin B; Chung Sham, Pak P; Chen, Kexin K; Jun Li, Mulin M
Publication Date: 2020-01-07

Variant appearance in text: MLH1: 793C>T; R265C
PubMed Link: 31925297
Variant Present in the following documents:
  • 42003_2019_736_MOESM3_ESM.xlsx, sheet 1
  • 42003_2019_736_MOESM10_ESM.xlsx, sheet 1
  • 42003_2019_736_MOESM4_ESM.xlsx, sheet 1
  • 42003_2019_736_MOESM13_ESM.xlsx, sheet 1
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Computational and cellular studies reveal structural destabilization and degradation of MLH1 variants in Lynch syndrome.

Elife
Abildgaard, Amanda B AB; Stein, Amelie A; Nielsen, Sofie V SV; Schultz-Knudsen, Katrine K; Papaleo, Elena E; Shrikhande, Amruta A; Hoffmann, Eva R ER; Bernstein, Inge I; Gerdes, Anne-Marie AM; Takahashi, Masanobu M; Ishioka, Chikashi C; Lindorff-Larsen, Kresten K; Hartmann-Petersen, Rasmus R
Publication Date: 2019-11-07

Variant appearance in text: MLH1: R265C
PubMed Link: 31697235
Variant Present in the following documents:
  • Main text
  • elife-49138.pdf
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Optimizing clinical exome design and parallel gene-testing for recessive genetic conditions in preconception carrier screening: Translational research genomic data from 14,125 exomes.

Plos Genetics
Capalbo, Antonio A; Valero, Roberto Alonso RA; Jimenez-Almazan, Jorge J; Pardo, Pere Mir PM; Fabiani, Marco M; Jiménez, David D; Simon, Carlos C; Rodriguez, Julio Martin JM
Publication Date: 2019-10

Variant appearance in text: MLH1: 793C>T; rs63751194
PubMed Link: 31589614
Variant Present in the following documents:
  • pgen.1008409.s001.xlsx, sheet 1
  • pgen.1008409.s003.xlsx, sheet 1
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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
Publication Date: 2019-09-04

Variant appearance in text: MLH1: 793C>T; R265C
PubMed Link: 31484976
Variant Present in the following documents:
  • 41598_2019_49224_MOESM2_ESM.xlsx, sheet 1
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Ultra-Mutation in IDH Wild-Type Glioblastomas of Patients Younger than 55 Years is Associated with Defective Mismatch Repair, Microsatellite Instability, and Giant Cell Enrichment.

Cancers
Barresi, Valeria V; Simbolo, Michele M; Mafficini, Andrea A; Piredda, Maria Liliana ML; Caffo, Maria M; Cardali, Salvatore Massimiliano SM; Germanò, Antonino A; Cingarlini, Sara S; Ghimenton, Claudio C; Scarpa, Aldo A
Publication Date: 2019-08-30

Variant appearance in text: MLH1: Arg265Cys
PubMed Link: 31480372
Variant Present in the following documents:
  • Main text
  • cancers-11-01279.pdf
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Full-length transcript amplification and sequencing as universal method to test mRNA integrity and biallelic expression in mismatch repair genes.

European Journal Of Human Genetics : Ejhg
Morak, Monika M; Schaefer, Kerstin K; Steinke-Lange, Verena V; Koehler, Udo U; Keinath, Susanne S; Massdorf, Trisari T; Mauracher, Brigitte B; Rahner, Nils N; Bailey, Jessica J; Kling, Christiane C; Haeusser, Tanja T; Laner, Andreas A; Holinski-Feder, Elke E
Publication Date: 2019-12

Variant appearance in text: MLH1: 793C>T; Arg265Cys
PubMed Link: 31332305
Variant Present in the following documents:
  • Main text
View BVdb publication page



A comprehensive assessment of Next-Generation Sequencing variants validation using a secondary technology.

Molecular Genetics & Genomic Medicine
Zheng, Jianchao J; Zhang, Hongyun H; Banerjee, Santasree S; Li, Yun Y; Zhou, Junyu J; Yang, Qian Q; Tan, Xuemei X; Han, Peng P; Fu, Qinmei Q; Cui, Xiaoli X; Yuan, Yuying Y; Zhang, Meiyan M; Shen, Ruiqin R; Song, Haifeng H; Zhang, Xiuqing X; Zhao, Lijian L; Peng, Zhiyu Z; Wang, Wei W; Yin, Ye Y
Publication Date: 2019-07

Variant appearance in text: MLH1: 793C>T; Arg265Cys
PubMed Link: 31165590
Variant Present in the following documents:
  • MGG3-7-e00748-s004.xlsx, sheet 1
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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: 793C>T; R265C
PubMed Link: 31118792
Variant Present in the following documents:
  • Main text
  • cmar-11-3721.pdf
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Genomic stratification and liquid biopsy in a rare adrenocortical carcinoma (ACC) case, with dual lung metastases.

Cold Spring Harbor Molecular Case Studies
McCabe, Mark J MJ; Pinese, Mark M; Chan, Chia-Ling CL; Sheriff, Nisa N; Thompson, Tanya J TJ; Grady, John J; Wong, Marie M; Gauthier, Marie-Emilie A MA; Puttick, Clare C; Gayevskiy, Velimir V; Hajdu, Elektra E; Wong, Stephen Q SQ; Barrett, Wade W; Earls, Peter P; Lukeis, Robyn R; Cheng, Yuen Y YY; Lin, Ruby C Y RCY; Thomas, David M DM; Watkins, D Neil DN; Dinger, Marcel E ME; McCormack, Ann I AI; Cowley, Mark J MJ
Publication Date: 2019-04

Variant appearance in text: MLH1: 793C>T; Arg265Cys; rs63751194
PubMed Link: 30936196
Variant Present in the following documents:
  • Main text
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: 793C>T; Arg265Cys
PubMed Link: 30787465
Variant Present in the following documents:
  • NIHMS1525468-supplement-Large_Excel_File.xlsx, sheet 6
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Protein stability of p53 targets determines their temporal expression dynamics in response to p53 pulsing.

The Journal Of Cell Biology
Hanson, Ryan L RL; Porter, Joshua R JR; Batchelor, Eric E
Publication Date: 2019-04-01

Variant appearance in text: MLH1: Arg265Cys
PubMed Link: 30745421
Variant Present in the following documents:
  • JCB_201803063.pdf
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