Publications:

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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: MSH6: 3013C>T; R1005*; rs63750563

PubMed Link: 36922933

Variant Present in the following documents:

• crc-22-0136-s01.xlsx, sheet 1

View BVdb publication page

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Tumor-independent Detection of Inherited Mismatch Repair Deficiency for the Diagnosis of Lynch Syndrome with High Specificity and Sensitivity.

Cancer Research Communications

Kansikas, Minttu M; Vähätalo, Laura L; Kantelinen, Jukka J; Kasela, Mariann M; Putula, Jaana J; Døhlen, Anni A; Paloviita, Pauliina P; Kärkkäinen, Emmi E; Lahti, Niklas N; Arnez, Philippe P; Kilpinen, Sami S; Alcala-Repo, Beatriz B; Pylvänäinen, Kirsi K; Pöyhönen, Minna M; Peltomäki, Päivi P; Järvinen, Heikki J HJ; Seppälä, Toni T TT; Renkonen-Sinisalo, Laura L; Lepistö, Anna A; Mecklin, Jukka-Pekka JP; Nyström, Minna M

Publication Date: 2023-03

Variant appearance in text: MSH6: 3013C>T

PubMed Link: 36875157

Variant Present in the following documents:

• Main text
• crc-22-0384.pdf

View BVdb publication page

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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: MSH6: 3013C>T; Arg1005Ter

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

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: R1005X; rs63750563

PubMed Link: 36816149

Variant Present in the following documents:

• BCO2-4-156-s001.xlsx, sheet 1

View BVdb publication page

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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: MSH6: R1005X

PubMed Link: 36344544

Variant Present in the following documents:

• 41467_2022_34523_MOESM4_ESM.xlsx, sheet 3

View BVdb publication page

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Lynch syndrome pre-screening and comprehensive characterization in a multi-center large cohort of Chinese patients with colorectal cancer.

Cancer Biology & Medicine

Li, Yan Y; Fan, Lihong L; Zheng, Jianming J; Nie, Xiu X; Sun, Yu Y; Feng, Qin Q; Lian, Shenyi S; Bai, Wenqi W; Cai, Weijing W; Yang, Yanan Y; Su, Bo B; Xi, Yanfeng Y; Lin, Dongmei D

Publication Date: 2022-06-01

Variant appearance in text: MSH6: 3013C>T; Arg1005Ter

PubMed Link: 35638907

Variant Present in the following documents:

• cbm-19-1235-s001.pdf

View BVdb publication page

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The repertoire of germline variants in patients with early-onset rectal cancer.

Cancer Communications (London, England)

Beltrami, Caroline Moraes CM; do Canto, Luisa Matos LM; Villacis, Rolando André Rios RAR; Petersen, Annabeth Høgh AH; Aagaard, Mads Malik MM; Cury, Sarah Santiloni SS; Formiga, Maria Nirvana da Cruz MNDC; Junior, Samuel Aguiar SA; Rogatto, Silvia Regina SR

Publication Date: 2022-05

Variant appearance in text: MSH6: 3013C>T; Arg1005Ter; rs63750563

PubMed Link: 35029067

Variant Present in the following documents:

• CAC2-42-481-s003.xlsx, sheet 3

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: 3013C>T; Arg1005Ter; rs63750563

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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Postoperative circulating tumor DNA as markers of recurrence risk in stages II to III colorectal cancer.

Journal Of Hematology & Oncology

Chen, Gong G; Peng, Junjie J; Xiao, Qian Q; Wu, Hao-Xiang HX; Wu, Xiaojun X; Wang, Fulong F; Li, Liren L; Ding, Peirong P; Zhao, Qi Q; Li, Yaqi Y; Wang, Da D; Shao, Yang Y; Bao, Hua H; Pan, Zhizhong Z; Ding, Ke-Feng KF; Cai, Sanjun S; Wang, Feng F; Xu, Rui-Hua RH

Publication Date: 2021-05-17

Variant appearance in text: MSH6: R1005*

PubMed Link: 34001194

Variant Present in the following documents:

• 13045_2021_1089_MOESM6_ESM.xlsx, sheet 1

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: 3013C>T; Arg1005*; rs63750563

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: Arg1005X

PubMed Link: 32820175

Variant Present in the following documents:

• 41467_2020_17374_MOESM1_ESM.pdf

View BVdb publication page

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Molecular Basis of Mismatch Repair Protein Deficiency in Tumors from Lynch Suspected Cases with Negative Germline Test Results.

Cancers

Olkinuora, Alisa A; Gylling, Annette A; Almusa, Henrikki H; Eldfors, Samuli S; Lepistö, Anna A; Mecklin, Jukka-Pekka JP; Nieminen, Taina Tuulikki TT; Peltomäki, Päivi P

Publication Date: 2020-07-09

Variant appearance in text: MSH6: 3013C>T; Arg1005Ter

PubMed Link: 32660107

Variant Present in the following documents:

• Main text

View BVdb publication page

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Constitutional mismatch repair deficiency-associated brain tumors: report from the European C4CMMRD consortium.

Neuro-Oncology Advances

Guerrini-Rousseau, Léa L; Varlet, Pascale P; Colas, Chrystelle C; Andreiuolo, Felipe F; Bourdeaut, Franck F; Dahan, Karin K; Devalck, Christine C; Faure-Conter, Cécile C; Genuardi, Maurizio M; Goldberg, Yael Y; Kuhlen, Michaela M; Moalla, Salma S; Opocher, Enrico E; Perez-Alonso, Vanessa V; Sehested, Astrid A; Slavc, Irene I; Unger, Sheila S; Wimmer, Katharina K; Grill, Jacques J; Brugières, Laurence L

Publication Date: 2019

Variant appearance in text: MSH6: 3013C>T; Arg1005*

PubMed Link: 32642664

Variant Present in the following documents:

• Main text
• vdz033.pdf

View BVdb publication page

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The Medical Genome Reference Bank contains whole genome and phenotype data of 2570 healthy elderly.

Nature Communications

Pinese, Mark M; Lacaze, Paul P; Rath, Emma M EM; Stone, Andrew A; Brion, Marie-Jo MJ; Ameur, Adam A; Nagpal, Sini S; Puttick, Clare C; Husson, Shane S; Degrave, Dmitry D; Cristina, Tina Navin TN; Kahl, Vivian F S VFS; Statham, Aaron L AL; Woods, Robyn L RL; McNeil, John J JJ; Riaz, Moeen M; Barr, Margo M; Nelson, Mark R MR; Reid, Christopher M CM; Murray, Anne M AM; Shah, Raj C RC; Wolfe, Rory R; Atkins, Joshua R JR; Fitzsimmons, Chantel C; Cairns, Heath M HM; Green, Melissa J MJ; Carr, Vaughan J VJ; Cowley, Mark J MJ; Pickett, Hilda A HA; James, Paul A PA; Powell, Joseph E JE; Kaplan, Warren W; Gibson, Greg G; Gyllensten, Ulf U; Cairns, Murray J MJ; McNamara, Martin M; Dinger, Marcel E ME; Thomas, David M DM

Publication Date: 2020-01-23

Variant appearance in text: MSH6: Arg1005Ter

PubMed Link: 31974348

Variant Present in the following documents:

• 41467_2019_14079_MOESM2_ESM.xlsx, sheet 2

View BVdb publication page

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Using next-generation sequencing to redefine BRCAness in triple-negative breast cancer.

Cancer Science

Lin, Po-Han PH; Chen, Ming M; Tsai, Li-Wei LW; Lo, Chiao C; Yen, Tzu-Chun TC; Huang, Thomas Yoyan TY; Chen, Chih-Kai CK; Fan, Sheng-Chih SC; Kuo, Sung-Hsin SH; Huang, Chiun-Sheng CS

Publication Date: 2020-04

Variant appearance in text: MSH6: R1005X

PubMed Link: 31958182

Variant Present in the following documents:

• Main text
• CAS-111-1375.pdf

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: MSH6: 3013C>T; R1005*

PubMed Link: 31925297

Variant Present in the following documents:

• 42003_2019_736_MOESM3_ESM.xlsx, sheet 1

View BVdb publication page

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DNA methylation changes and somatic mutations as tumorigenic events in Lynch syndrome-associated adenomas retaining mismatch repair protein expression.

Ebiomedicine

Mäki-Nevala, Satu S; Valo, Satu S; Ristimäki, Ari A; Sarhadi, Virinder V; Knuutila, Sakari S; Nyström, Minna M; Renkonen-Sinisalo, Laura L; Lepistö, Anna A; Mecklin, Jukka-Pekka JP; Peltomäki, Päivi P

Publication Date: 2019-01

Variant appearance in text: MSH6: 3013C>T; Arg1005*

PubMed Link: 30578081

Variant Present in the following documents:

• mmc1.pdf

View BVdb publication page

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Evaluation of a 27-gene inherited cancer panel across 630 consecutive patients referred for testing in a clinical diagnostic laboratory.

Hereditary Cancer In Clinical Practice

Gardner, Sabrina A SA; Weymouth, Katelyn S KS; Kelly, Wei S WS; Bogdanova, Ekaterina E; Chen, Wenjie W; Lupu, Daniel D; Suhl, Joshua J; Zeng, Qiandong Q; Geigenmüller, Ute U; Boles, Debbie D; Okamoto, Patricia M PM; McDowell, Geraldine G; Hayden, Melissa A MA; Nagan, Narasimhan N

Publication Date: 2018

Variant appearance in text: MSH6: 3013C>T; Arg1005*

PubMed Link: 29308099

Variant Present in the following documents:

• 13053_2017_83_MOESM1_ESM.xlsx, sheet 1

View BVdb publication page

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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: MSH6: 3013C>T; Arg1005*; rs63750563

PubMed Link: 28944238

Variant Present in the following documents:

• Main text
• MGG3-5-553.pdf
• MGG3-5-553-s002.xlsx, sheet 1

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: 3013C>T; Arg1005Ter

PubMed Link: 28569743

Variant Present in the following documents:

• gim201760x7.xlsx, sheet 2

View BVdb publication page

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Patients with genetically heterogeneous synchronous colorectal cancer carry rare damaging germline mutations in immune-related genes.

Nature Communications

Cereda, Matteo M; Gambardella, Gennaro G; Benedetti, Lorena L; Iannelli, Fabio F; Patel, Dominic D; Basso, Gianluca G; Guerra, Rosalinda F RF; Mourikis, Thanos P TP; Puccio, Ignazio I; Sinha, Shruti S; Laghi, Luigi L; Spencer, Jo J; Rodriguez-Justo, Manuel M; Ciccarelli, Francesca D FD

Publication Date: 2016-07-05

Variant appearance in text: rs63750563

PubMed Link: 27377421

Variant Present in the following documents:

• ncomms12072-s2.xlsx, sheet 10
• ncomms12072-s1.pdf

View BVdb publication page

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Combined Microsatellite Instability, MLH1 Methylation Analysis, and Immunohistochemistry for Lynch Syndrome Screening in Endometrial Cancers From GOG210: An NRG Oncology and Gynecologic Oncology Group Study.

Journal Of Clinical Oncology : Official Journal Of The American Society Of Clinical Oncology

Goodfellow, Paul J PJ; Billingsley, Caroline C CC; Lankes, Heather A HA; Ali, Shamshad S; Cohn, David E DE; Broaddus, Russell J RJ; Ramirez, Nilsa N; Pritchard, Colin C CC; Hampel, Heather H; Chassen, Alexis S AS; Simmons, Luke V LV; Schmidt, Amy P AP; Gao, Feng F; Brinton, Louise A LA; Backes, Floor F; Landrum, Lisa M LM; Geller, Melissa A MA; DiSilvestro, Paul A PA; Pearl, Michael L ML; Lele, Shashikant B SB; Powell, Matthew A MA; Zaino, Richard J RJ; Mutch, David D

Publication Date: 2015-12-20

Variant appearance in text: MSH6: 3013C>T

PubMed Link: 26552419

Variant Present in the following documents:

• Main text

View BVdb publication page

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DNA hypermethylation appears early and shows increased frequency with dysplasia in Lynch syndrome-associated colorectal adenomas and carcinomas.

Clinical Epigenetics

Valo, Satu S; Kaur, Sippy S; Ristimäki, Ari A; Renkonen-Sinisalo, Laura L; Järvinen, Heikki H; Mecklin, Jukka-Pekka JP; Nyström, Minna M; Peltomäki, Päivi P

Publication Date: 2015

Variant appearance in text: MSH6: 3013C>T; Arg1005*

PubMed Link: 26203307

Variant Present in the following documents:

• 13148_2015_102_MOESM10_ESM.pdf

View BVdb publication page

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Integrative analysis of hereditary nonpolyposis colorectal cancer: the contribution of allele-specific expression and other assays to diagnostic algorithms.

Plos One

De Lellis, Laura L; Aceto, Gitana Maria GM; Curia, Maria Cristina MC; Catalano, Teresa T; Mammarella, Sandra S; Veschi, Serena S; Fantini, Fabiana F; Battista, Pasquale P; Stigliano, Vittoria V; Messerini, Luca L; Mareni, Cristina C; Sala, Paola P; Bertario, Lucio L; Radice, Paolo P; Cama, Alessandro A

Publication Date: 2013

Variant appearance in text: MSH6: 3013C>T; Arg1005*

PubMed Link: 24278394

Variant Present in the following documents:

• Main text
• pone.0081194.pdf

View BVdb publication page

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Evidence for classification of c.1852_1853AA>GC in MLH1 as a neutral variant for Lynch syndrome.

Bmc Medical Genetics

Castillejo, Adela A; Guarinos, Carla C; Martinez-Canto, Ana A; Barbera, Victor-Manuel VM; Egoavil, Cecilia C; Castillejo, Maria-Isabel MI; Perez-Carbonell, Lucia L; Sanchez-Heras, Ana-Beatriz AB; Segura, Angel A; Ochoa, Enrique E; Lazaro, Rafael R; Ruiz-Ponte, Clara C; Bujanda, Luis L; Andreu, Montserrat M; Castells, Antoni A; Carracedo, Angel A; Llor, Xavier X; Clofent, Juan J; Alenda, Cristina C; Paya, Artemio A; Jover, Rodrigo R; Soto, Jose-Luis JL

Publication Date: 2011-01-19

Variant appearance in text: MSH6: 3013C>T; Arg1005X

PubMed Link: 21247423

Variant Present in the following documents:

• Main text
• 1471-2350-12-12.pdf

View BVdb publication page

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