Publications:

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Genomic profiles of IDH-mutant gliomas: MYCN-amplified IDH-mutant astrocytoma had the worst prognosis.

Scientific Reports

Lee, Kwanghoon K; Kim, Seong-Ik SI; Kim, Eric Eunshik EE; Shim, Yu-Mi YM; Won, Jae-Kyung JK; Park, Chul-Kee CK; Choi, Seung Hong SH; Yun, Hongseok H; Lee, Hyunju H; Park, Sung-Hye SH

Publication Date: 2023-04-25

Variant appearance in text: MSH6: 3514dupA; Arg1172fs

PubMed Link: 37185778

Variant Present in the following documents:

• Main text
• 41598_2023_Article_32153.pdf

View BVdb publication page

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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: rs63751327

PubMed Link: 36922933

Variant Present in the following documents:

• crc-22-0136-s01.xlsx, sheet 1

View BVdb publication page

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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: MSH6: 3514dupA; rs63751327

PubMed Link: 36816149

Variant Present in the following documents:

• BCO2-4-156-s001.xlsx, sheet 1

View BVdb publication page

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An EGFR L858R mutation identified in 1862 Chinese NSCLC patients can be a promising neoantigen vaccine therapeutic strategy.

Frontiers In Immunology

Lin, Jing J; Liu, Jun J; Hao, Shi-Guang SG; Lan, Bin B; Zheng, Xiao-Bin XB; Xiong, Jia-Ni JN; Zhang, Ying-Qian YQ; Gao, Xuan X; Chen, Chuan-Ben CB; Chen, Ling L; Huang, Yu-Fang YF; Luo, Hong H; Yi, Yu-Ting YT; Yi, Xin X; Lu, Jian-Ping JP; Zheng, Xiong-Wei XW; Chen, Gang G; Wang, Xue-Feng XF; Chen, Yu Y

Publication Date: 2022

Variant appearance in text: MSH6: 3514dupA; R1172Kfs*5

PubMed Link: 36505399

Variant Present in the following documents:

• Table_2.xlsx, sheet 3

View BVdb publication page

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Case report: Undifferentiated sarcoma with multiple tumors involved in Lynch syndrome: Unexpected favorable outcome to sintilimab combined with chemotherapy.

Frontiers In Oncology

Liu, Jiaying J; Chang, Xiaona X; Xiao, Guixiang G; Zhong, Jingmin J; Huang, Bo B; Zhang, Jiwei J; Gao, Beibei B; Peng, Gang G; Nie, Xiu X

Publication Date: 2022

Variant appearance in text: MSH6: 3514_3515insA; Arg1172Lysfs*5

PubMed Link: 36457512

Variant Present in the following documents:

• Main text
• fonc-12-1014859.pdf

View BVdb publication page

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Clinical exome-based panel testing for medically actionable secondary findings in a cohort of 383 Italian participants.

Frontiers In Genetics

Martone, Stefania S; Buonagura, Autilia Tommasina AT; Marra, Roberta R; Rosato, Barbara Eleni BE; Del Giudice, Federica F; Bonfiglio, Ferdinando F; Capasso, Mario M; Iolascon, Achille A; Andolfo, Immacolata I; Russo, Roberta R

Publication Date: 2022

Variant appearance in text: MSH6: 3514dupA; Arg1172Lysfs*5; rs63751327

PubMed Link: 36437915

Variant Present in the following documents:

• Main text
• fgene-13-956723.pdf

View BVdb publication page

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The prevalence of germline pathogenic variants in Estonian colorectal cancer patients: results from routine clinical setting 2016-2021.

Frontiers In Genetics

Roht, Laura L; Tooming, Mikk M; Rekker, Kadri K; Roomere, Hanno H; Toome, Kadri K; Murumets, Ülle Ü; Šamarina, Ustina U; Õunap, Katrin K; Kahre, Tiina T

Publication Date: 2022

Variant appearance in text: MSH6: 3514dup; Arg1172Lysfs*5

PubMed Link: 36425062

Variant Present in the following documents:

• Main text
• fgene-13-1020543.pdf

View BVdb publication page

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Association between germline pathogenic variants in cancer-predisposing genes and lymphoma risk.

Cancer Science

Usui, Yoshiaki Y; Iwasaki, Yusuke Y; Matsuo, Keitaro K; Endo, Mikiko M; Kamatani, Yoichiro Y; Hirata, Makoto M; Sugano, Kokichi K; Yoshida, Teruhiko T; Matsuda, Koichi K; Murakami, Yoshinori Y; Maeda, Yoshinobu Y; Nakagawa, Hidewaki H; Momozawa, Yukihide Y

Publication Date: 2022-11

Variant appearance in text: MSH6: 3514dupA; Arg1172fs

PubMed Link: 36065483

Variant Present in the following documents:

• CAS-113-3972-s007.pdf

View BVdb publication page

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Distinct landscapes of deleterious variants in DNA damage repair system in ethnic human populations.

Life Science Alliance

Qin, Zixin Z; Huang, Teng T; Guo, Maoni M; Wang, San Ming SM

Publication Date: 2022-09

Variant appearance in text: MSH6: 3514dup; Arg1172LysfsTer5; rs63751327

PubMed Link: 35595529

Variant Present in the following documents:

• LSA-2021-01319_TableS5.xlsx, sheet 2
• LSA-2021-01319_TableS1.xlsx, sheet 1
• LSA-2021-01319_TableS3.xlsx, sheet 3
• LSA-2021-01319_TableS4.xlsx, sheet 1

View BVdb publication page

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Collaborative Group of the Americas on Inherited Gastrointestinal Cancers (CGA-IGC) Annual Virtual Meeting, November 13-15, 2021.

Familial Cancer

Publication Date: 2022-10

Variant appearance in text: MSH6: 3514dup; Arg1172Lysfs

PubMed Link: 35366121

Variant Present in the following documents:

• Main text
• 10689_2021_Article_284.pdf

View BVdb publication page

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Clinical and genomic features of Chinese lung cancer patients with germline mutations.

Nature Communications

Peng, Wenying W; Li, Bin B; Li, Jin J; Chang, Lianpeng L; Bai, Jing J; Yi, Yuting Y; Chen, Rongrong R; Zhang, Yanyan Y; Chen, Chen C; Pu, Xingxiang X; Jiang, Meilin M; Li, Jia J; Zhong, Rui R; Xu, Fang F; Chen, Bolin B; Xu, Li L; Wang, Ning N; Huan, Jiaojiao J; Dai, Pingping P; Guan, Yanfang Y; Yang, Ling L; Xia, Xuefeng X; Yi, Xin X; Wang, Jiayin J; Yu, Fenglei F; Wu, Lin L

Publication Date: 2022-03-10

Variant appearance in text: MSH6: 3514dupA; R1172Kfs*5

PubMed Link: 35273153

Variant Present in the following documents:

• 41467_2022_28840_MOESM4_ESM.xlsx, sheet 1
• 41467_2022_28840_MOESM5_ESM.xlsx, sheet 1

View BVdb publication page

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Sporadic and Lynch syndrome-associated mismatch repair-deficient brain tumors.

Laboratory Investigation; A Journal Of Technical Methods And Pathology

Kim, Hyunhee H; Lim, Ka Young KY; Park, Jin Woo JW; Kang, Jeongwan J; Won, Jae Kyung JK; Lee, Kwanghoon K; Shim, Yumi Y; Park, Chul-Kee CK; Kim, Seung-Ki SK; Choi, Seung-Hong SH; Kim, Tae Min TM; Yun, Hongseok H; Park, Sung-Hye SH

Publication Date: 2022-02

Variant appearance in text: MSH6: 3514dupA; Arg1172fs

PubMed Link: 34848827

Variant Present in the following documents:

• Main text
• 41374_2021_Article_694.pdf

View BVdb publication page

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Sporadic and Lynch syndrome-associated mismatch repair-deficient brain tumors.

Laboratory Investigation; A Journal Of Technical Methods And Pathology

Kim, Hyunhee H; Lim, Ka Young KY; Park, Jin Woo JW; Kang, Jeongwan J; Won, Jae Kyung JK; Lee, Kwanghoon K; Shim, Yumi Y; Park, Chul-Kee CK; Kim, Seung-Ki SK; Choi, Seung-Hong SH; Kim, Tae Min TM; Yun, Hongseok H; Park, Sung-Hye SH

Publication Date: 2021-11-30

Variant appearance in text: MSH6: 3514dupA; Arg1172fs

PubMed Link: 34848827

Variant Present in the following documents:

• Main text
• 41374_2021_Article_694.pdf

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: MSH6: 3514dupA; Arg1172Lysfs

PubMed Link: 34253785

Variant Present in the following documents:

• 41598_2021_93715_MOESM2_ESM.xlsx, sheet 7

View BVdb publication page

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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: MSH6: 3513_3514insA; Arg1172Lysfs

PubMed Link: 34172528

Variant Present in the following documents:

• jmedgenet-2021-107886supp006.xlsx, sheet 3

View BVdb publication page

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Clinical Significance of Germline Cancer Predisposing Variants in Unselected Patients with Pancreatic Adenocarcinoma.

Cancers

Fountzilas, Elena E; Eliades, Alexia A; Koliou, Georgia-Angeliki GA; Achilleos, Achilleas A; Loizides, Charalambos C; Tsangaras, Kyriakos K; Pectasides, Dimitrios D; Sgouros, Joseph J; Papakostas, Pavlos P; Rallis, Grigorios G; Psyrri, Amanda A; Papadimitriou, Christos C; Oikonomopoulos, Georgios G; Ferentinos, Konstantinos K; Koumarianou, Anna A; Zarkavelis, George G; Dervenis, Christos C; Aravantinos, Gerasimos G; Bafaloukos, Dimitrios D; Kosmidis, Paris P; Papaxoinis, George G; Theochari, Maria M; Varthalitis, Ioannis I; Kentepozidis, Nikolaos N; Rigakos, Georgios G; Saridaki, Zacharenia Z; Nikolaidi, Adamantia A; Christopoulou, Athina A; Fostira, Florentia F; Samantas, Epaminontas E; Kypri, Elena E; Ioannides, Marios M; Koumbaris, George G; Fountzilas, George G; Patsalis, Philippos C PC

Publication Date: 2021-01-08

Variant appearance in text: MSH6: 3514dupA

PubMed Link: 33429865

Variant Present in the following documents:

• cancers-13-00198-s001.pdf

View BVdb publication page

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Exome sequencing and characterization of 49,960 individuals in the UK Biobank.

Nature

Van Hout, Cristopher V CV; Tachmazidou, Ioanna I; Backman, Joshua D JD; Hoffman, Joshua D JD; Liu, Daren D; Pandey, Ashutosh K AK; Gonzaga-Jauregui, Claudia C; Khalid, Shareef S; Ye, Bin B; Banerjee, Nilanjana N; Li, Alexander H AH; O'Dushlaine, Colm C; Marcketta, Anthony A; Staples, Jeffrey J; Schurmann, Claudia C; Hawes, Alicia A; Maxwell, Evan E; Barnard, Leland L; Lopez, Alexander A; Penn, John J; Habegger, Lukas L; Blumenfeld, Andrew L AL; Bai, Xiaodong X; O'Keeffe, Sean S; Yadav, Ashish A; Praveen, Kavita K; Jones, Marcus M; Salerno, William J WJ; Chung, Wendy K WK; Surakka, Ida I; Willer, Cristen J CJ; Hveem, Kristian K; Leader, Joseph B JB; Carey, David J DJ; Ledbetter, David H DH; , ; Cardon, Lon L; Yancopoulos, George D GD; Economides, Aris A; Coppola, Giovanni G; Shuldiner, Alan R AR; Balasubramanian, Suganthi S; Cantor, Michael M; , ; Nelson, Matthew R MR; Whittaker, John J; Reid, Jeffrey G JG; Marchini, Jonathan J; Overton, John D JD; Scott, Robert A RA; Abecasis, Gonçalo R GR; Yerges-Armstrong, Laura L; Baras, Aris A

Publication Date: 2020-10

Variant appearance in text: MSH6: 3514dupA; Arg1172fs; rs63751327

PubMed Link: 33087929

Variant Present in the following documents:

• 41586_2020_2853_MOESM11_ESM.xlsx, sheet 1

View BVdb publication page

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Polygenic background modifies penetrance of monogenic variants for tier 1 genomic conditions.

Nature Communications

Fahed, Akl C AC; Wang, Minxian M; Homburger, Julian R JR; Patel, Aniruddh P AP; Bick, Alexander G AG; Neben, Cynthia L CL; Lai, Carmen C; Brockman, Deanna D; Philippakis, Anthony A; Ellinor, Patrick T PT; Cassa, Christopher A CA; Lebo, Matthew M; Ng, Kenney K; Lander, Eric S ES; Zhou, Alicia Y AY; Kathiresan, Sekar S; Khera, Amit V AV

Publication Date: 2020-08-20

Variant appearance in text: MSH6: Arg1172LysfsX5

PubMed Link: 32820175

Variant Present in the following documents:

• 41467_2020_17374_MOESM1_ESM.pdf

View BVdb publication page

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Clinical and Molecular Assessment of Patients with Lynch Syndrome and Sarcomas Underpinning the Association with MSH2 Germline Pathogenic Variants.

Cancers

de Angelis de Carvalho, Nathália N; Niitsuma, Bianca Naomi BN; Kozak, Vanessa Nascimento VN; Costa, Felipe D'almeida FD; de Macedo, Mariana Petaccia MP; Kupper, Bruna Elisa Catin BEC; Silva, Maria Letícia Gobo MLG; Formiga, Maria Nirvana MN; Volc, Sahlua Miguel SM; Aguiar Junior, Samuel S; Palmero, Edenir Inez EI; Casali-da-Rocha, José Cláudio JC; Carraro, Dirce Maria DM; Torrezan, Giovana Tardin GT

Publication Date: 2020-07-09

Variant appearance in text: MSH6: 3514_3515insA; Arg1172Lysfs*5

PubMed Link: 32659967

Variant Present in the following documents:

• Main text
• cancers-12-01848.pdf

View BVdb publication page

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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: N/A

PubMed Link: 31589614

Variant Present in the following documents:

View BVdb publication page

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False-negative errors in next-generation sequencing contribute substantially to inconsistency of mutation databases.

Plos One

Kim, Young-Ho YH; Song, Yura Y; Kim, Jong-Kwang JK; Kim, Tae-Min TM; Sim, Hye Won HW; Kim, Hyung-Lae HL; Jang, Hyonchol H; Kim, Young-Woo YW; Hong, Kyeong-Man KM

Publication Date: 2019

Variant appearance in text: MSH6: R1172fs

PubMed Link: 31513681

Variant Present in the following documents:

• pone.0222535.s006.xlsx, sheet 1

View BVdb publication page

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Evidence for GALNT12 as a moderate penetrance gene for colorectal cancer.

Human Mutation

Evans, Daniel R DR; Venkitachalam, Srividya S; Revoredo, Leslie L; Dohey, Amanda T AT; Clarke, Erica E; Pennell, Julia J JJ; Powell, Amy E AE; Quinn, Erina E; Ravi, Lakshmeswari L; Gerken, Thomas A TA; Green, Jane S JS; Woods, Michael O MO; Guda, Kishore K

Publication Date: 2018-08

Variant appearance in text: MSH6: 3514dupA; Arg1172Lysfs*5

PubMed Link: 29749045

Variant Present in the following documents:

• Main text

View BVdb publication page

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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: MSH6: 3514dupA; Arg1172Lysfs

PubMed Link: 28569743

Variant Present in the following documents:

• gim201760x7.xlsx, sheet 2

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: MSH6: Arg1172Lysfs*5

PubMed Link: 28466842

Variant Present in the following documents:

• Main text
• ncomms14755-s1.pdf
• ncomms14755.pdf

View BVdb publication page

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VarDict: a novel and versatile variant caller for next-generation sequencing in cancer research.

Nucleic Acids Research

Lai, Zhongwu Z; Markovets, Aleksandra A; Ahdesmaki, Miika M; Chapman, Brad B; Hofmann, Oliver O; McEwen, Robert R; Johnson, Justin J; Dougherty, Brian B; Barrett, J Carl JC; Dry, Jonathan R JR

Publication Date: 2016-06-20

Variant appearance in text: rs63751327

PubMed Link: 27060149

Variant Present in the following documents:

• supp_gkw227_nar-03544-met-k-2015-File003.xls, sheet 2

View BVdb publication page

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A massive parallel sequencing workflow for diagnostic genetic testing of mismatch repair genes.

Molecular Genetics & Genomic Medicine

Hansen, Maren F MF; Neckmann, Ulrike U; Lavik, Liss A S LA; Vold, Trine T; Gilde, Bodil B; Toft, Ragnhild K RK; Sjursen, Wenche W

Publication Date: 2014-03

Variant appearance in text: MSH6: 3514dup; Arg1172Lysfs; rs63751327

PubMed Link: 24689082

Variant Present in the following documents:

• Main text
• mgg30002-0186.pdf

View BVdb publication page

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Tumours with loss of MSH6 expression are MSI-H when screened with a pentaplex of five mononucleotide repeats.

British Journal Of Cancer

You, J-F JF; Buhard, O O; Ligtenberg, M J L MJ; Kets, C M CM; Niessen, R C RC; Hofstra, R M W RM; Wagner, A A; Dinjens, W N M WN; Colas, C C; Lascols, O O; Collura, A A; Flejou, J-F JF; Duval, A A; Hamelin, R R

Publication Date: 2010-12-07

Variant appearance in text: MSH6: 3514dup; Arg1172fsX5

PubMed Link: 21081928

Variant Present in the following documents:

• Main text

View BVdb publication page

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The genetic basis of colorectal cancer in a population-based incident cohort with a high rate of familial disease.

Gut

Woods, M O MO; Younghusband, H B HB; Parfrey, P S PS; Gallinger, S S; McLaughlin, J J; Dicks, E E; Stuckless, S S; Pollett, A A; Bapat, B B; Mrkonjic, M M; de la Chapelle, A A; Clendenning, M M; Thibodeau, S N SN; Simms, M M; Dohey, A A; Williams, P P; Robb, D D; Searle, C C; Green, J S JS; Green, R C RC

Publication Date: 2010-10

Variant appearance in text: MSH6: 3514dupA; Arg1172LysfsX5

PubMed Link: 20682701

Variant Present in the following documents:

• Main text

View BVdb publication page

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Risk of urothelial bladder cancer in Lynch syndrome is increased, in particular among MSH2 mutation carriers.

Journal Of Medical Genetics

van der Post, R S RS; Kiemeney, L A LA; Ligtenberg, M J L MJ; Witjes, J A JA; Hulsbergen-van de Kaa, C A CA; Bodmer, D D; Schaap, L L; Kets, C M CM; van Krieken, J H J M JH; Hoogerbrugge, N N

Publication Date: 2010-07

Variant appearance in text: MSH6: 3514dup; Arg1172fs

PubMed Link: 20591884

Variant Present in the following documents:

• Main text

View BVdb publication page

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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

Variant appearance in text: MSH6: 3514dupA

PubMed Link: 20587412

Variant Present in the following documents:

• Main text
• jmedgenet77677.pdf

View BVdb publication page

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Patients with an unexplained microsatellite instable tumour have a low risk of familial cancer.

British Journal Of Cancer

Overbeek, L I H LI; Kets, C M CM; Hebeda, K M KM; Bodmer, D D; van der Looij, E E; Willems, R R; Goossens, M M; Arts, N N; Brunner, H G HG; van Krieken, J H J M JH; Hoogerbrugge, N N; Ligtenberg, M J L MJ

Publication Date: 2007-05-21

Variant appearance in text: MSH6: 3514dup; Arg1172fs

PubMed Link: 17453009

Variant Present in the following documents:

• Main text
• 6603754a.pdf

View BVdb publication page

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