Publications:

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Case Report: Partial response to single-agent pembrolizumab in a chemotherapy-resistant metastatic pancreatic cancer patient with a high tumor mutation burden.

Frontiers In Oncology

Dai, Mengyao M; Sheng, Jianpeng J; Zhang, Qi Q; Wang, Jianxin J; Fu, Qihan Q; Liang, Tingbo T

Publication Date: 2023

Variant appearance in text: MLH1: K196Nfs*6

PubMed Link: 36937383

Variant Present in the following documents:

• Main text
• fonc-13-1118633.pdf

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Significance of logistic regression scoring model based on natural killer cell-mediated cytotoxic pathway in the diagnosis of colon cancer.

Frontiers In Immunology

Ye, Zhen Z; Zhang, Huanhuan H; Liang, Jianwei J; Yi, Shuying S; Zhan, Xianquan X

Publication Date: 2023

Variant appearance in text: MLH1: K196Nfs*6

PubMed Link: 36742322

Variant Present in the following documents:

• Table_8.xlsx, sheet 1

View BVdb publication page

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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: K196Nfs*6

PubMed Link: 36550560

Variant Present in the following documents:

• 13059_2022_2839_MOESM4_ESM.xlsx, sheet 1

View BVdb publication page

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Redefine Hyperprogressive Disease During Treatment With Immune-Checkpoint Inhibitors in Patients With Gastrointestinal Cancer.

Frontiers In Oncology

Wang, Zhenghang Z; Liu, Chang C; Bai, Yuezong Y; Zhao, Xiaochen X; Cui, Longgang L; Peng, Zhi Z; Zhang, Xiaotian X; Wang, Xicheng X; Zhao, Zhengyi Z; Li, Jian J; Shen, Lin L

Publication Date: 2021

Variant appearance in text: MLH1: 588del; K196Nfs*6

PubMed Link: 34858840

Variant Present in the following documents:

• Table_2.xlsx, sheet 1

View BVdb publication page

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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: 588del; K196Nfs*6

PubMed Link: 34253785

Variant Present in the following documents:

• 41598_2021_93715_MOESM2_ESM.xlsx, sheet 7
• 41598_2021_93715_MOESM2_ESM.xlsx, sheet 10

View BVdb publication page

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Comprehensive Genomic Characterization of Fifteen Early-Onset Lynch-Like Syndrome Colorectal Cancers.

Cancers

Golubicki, Mariano M; Díaz-Gay, Marcos M; Bonjoch, Laia L; Franch-Expósito, Sebastià S; Muñoz, Jenifer J; Cuatrecasas, Miriam M; Ocaña, Teresa T; Iseas, Soledad S; Mendez, Guillermo G; Carballido, Marcela M; Robbio, Juan J; Cisterna, Daniel D; Roca, Enrique E; Castells, Antoni A; Balaguer, Francesc F; Castellví-Bel, Sergi S; Antelo, Marina M

Publication Date: 2021-03-12

Variant appearance in text: MLH1: 588delA; Lys196fs

PubMed Link: 33809179

Variant Present in the following documents:

• Main text
• cancers-13-01259.pdf

View BVdb publication page

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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: 588del; K196Nfs*6

PubMed Link: 33726687

Variant Present in the following documents:

• 12885_2021_7942_MOESM3_ESM.xlsx, sheet 1

View BVdb publication page

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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: K196Nfs*6

PubMed Link: 32579932

Variant Present in the following documents:

• mmc5.xlsx, sheet 3

View BVdb publication page

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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: K196Nfs*6

PubMed Link: 31925297

Variant Present in the following documents:

• 42003_2019_736_MOESM13_ESM.xlsx, sheet 1

View BVdb publication page

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Comprehensive population-wide analysis of Lynch syndrome in Iceland reveals founder mutations in MSH6 and PMS2.

Nature Communications

Haraldsdottir, Sigurdis S; Rafnar, Thorunn T; Frankel, Wendy L WL; Einarsdottir, Sylvia S; Sigurdsson, Asgeir A; Hampel, Heather H; Snaebjornsson, Petur P; Masson, Gisli G; Weng, Daniel D; Arngrimsson, Reynir R; Kehr, Birte B; Yilmaz, Ahmet A; Haraldsson, Stefan S; Sulem, Patrick P; Stefansson, Tryggvi T; Shields, Peter G PG; Sigurdsson, Fridbjorn F; Bekaii-Saab, Tanios T; Moller, Pall H PH; Steinarsdottir, Margret M; Alexiusdottir, Kristin K; Hitchins, Megan M; Pritchard, Colin C CC; de la Chapelle, Albert A; Jonasson, Jon G JG; Goldberg, Richard M RM; Stefansson, Kari K

Publication Date: 2017-05-03

Variant appearance in text: MLH1: 588del; K196Nfs*6

PubMed Link: 28466842

Variant Present in the following documents:

• Main text
• ncomms14755.pdf

View BVdb publication page

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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: 583delA; K196fs*6

PubMed Link: 27397505

Variant Present in the following documents:

• mmc3.xlsx, sheet 3

View BVdb publication page

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Genomic Correlates of Immune-Cell Infiltrates in Colorectal Carcinoma.

Cell Reports

Giannakis, Marios M; Mu, Xinmeng Jasmine XJ; Shukla, Sachet A SA; Qian, Zhi Rong ZR; Cohen, Ofir O; Nishihara, Reiko R; Bahl, Samira S; Cao, Yin Y; Amin-Mansour, Ali A; Yamauchi, Mai M; Sukawa, Yasutaka Y; Stewart, Chip C; Rosenberg, Mara M; Mima, Kosuke K; Inamura, Kentaro K; Nosho, Katsuhiko K; Nowak, Jonathan A JA; Lawrence, Michael S MS; Giovannucci, Edward L EL; Chan, Andrew T AT; Ng, Kimmie K; Meyerhardt, Jeffrey A JA; Van Allen, Eliezer M EM; Getz, Gad G; Gabriel, Stacey B SB; Lander, Eric S ES; Wu, Catherine J CJ; Fuchs, Charles S CS; Ogino, Shuji S; Garraway, Levi A LA

Publication Date: 2016-04-26

Variant appearance in text: N/A

PubMed Link: 27149842

Variant Present in the following documents:

View BVdb publication page

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Genetic and epigenetic aberrations occurring in colorectal tumors associated with serrated pathway.

International Journal Of Cancer

Sakai, Eiji E; Fukuyo, Masaki M; Ohata, Ken K; Matsusaka, Keisuke K; Doi, Noriteru N; Mano, Yasunobu Y; Takane, Kiyoko K; Abe, Hiroyuki H; Yagi, Koichi K; Matsuhashi, Nobuyuki N; Fukushima, Junichi J; Fukayama, Masashi M; Akagi, Kiwamu K; Aburatani, Hiroyuki H; Nakajima, Atsushi A; Kaneda, Atsushi A

Publication Date: 2016-04-01

Variant appearance in text: MLH1: 583_583delA; K196fs*6

PubMed Link: 26510091

Variant Present in the following documents:

• IJC-138-1634-s001.pdf

View BVdb publication page

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Risk of colorectal cancer for people with a mutation in both a MUTYH and a DNA mismatch repair gene.

Familial Cancer

Win, Aung Ko AK; Reece, Jeanette C JC; Buchanan, Daniel D DD; Clendenning, Mark M; Young, Joanne P JP; Cleary, Sean P SP; Kim, Hyeja H; Cotterchio, Michelle M; Dowty, James G JG; MacInnis, Robert J RJ; Tucker, Katherine M KM; Winship, Ingrid M IM; Macrae, Finlay A FA; Burnett, Terrilea T; Le Marchand, Loïc L; Casey, Graham G; Haile, Robert W RW; Newcomb, Polly A PA; Thibodeau, Stephen N SN; Lindor, Noralane M NM; Hopper, John L JL; Gallinger, Steven S; Jenkins, Mark A MA

Publication Date: 2015-12

Variant appearance in text: MLH1: 588delA

PubMed Link: 26202870

Variant Present in the following documents:

• Main text

View BVdb publication page

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High prevalence of mismatch repair deficiency in prostate cancers diagnosed in mismatch repair gene mutation carriers from the colon cancer family registry.

Familial Cancer

Rosty, Christophe C; Walsh, Michael D MD; Lindor, Noralane M NM; Thibodeau, Stephen N SN; Mundt, Erin E; Gallinger, Steven S; Aronson, Melyssa M; Pollett, Aaron A; Baron, John A JA; Pearson, Sally S; Clendenning, Mark M; Walters, Rhiannon J RJ; Nagler, Belinda N BN; Crawford, William J WJ; Young, Joanne P JP; Winship, Ingrid I; Win, Aung Ko AK; Hopper, John L JL; Jenkins, Mark A MA; Buchanan, Daniel D DD

Publication Date: 2014-12

Variant appearance in text: MLH1: 588delA; Lys196AsnfsX6

PubMed Link: 25117503

Variant Present in the following documents:

• Main text

View BVdb publication page

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