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: 10C>T; rs786201042

PubMed Link: 36922933

Variant Present in the following documents:

• crc-22-0136-s01.xlsx, sheet 1

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: 10C>T; Gln4Ter

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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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: 10C>T; Gln4Ter; rs786201042

PubMed Link: 35595529

Variant Present in the following documents:

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

View BVdb publication page

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A functionally impaired missense variant identified in French Canadian families implicates FANCI as a candidate ovarian cancer-predisposing gene.

Genome Medicine

Fierheller, Caitlin T CT; Guitton-Sert, Laure L; Alenezi, Wejdan M WM; Revil, Timothée T; Oros, Kathleen K KK; Gao, Yuandi Y; Bedard, Karine K; Arcand, Suzanna L SL; Serruya, Corinne C; Behl, Supriya S; Meunier, Liliane L; Fleury, Hubert H; Fewings, Eleanor E; Subramanian, Deepak N DN; Nadaf, Javad J; Bruce, Jeffrey P JP; Bell, Rachel R; Provencher, Diane D; Foulkes, William D WD; El Haffaf, Zaki Z; Mes-Masson, Anne-Marie AM; Majewski, Jacek J; Pugh, Trevor J TJ; Tischkowitz, Marc M; James, Paul A PA; Campbell, Ian G IG; Greenwood, Celia M T CMT; Ragoussis, Jiannis J; Masson, Jean-Yves JY; Tonin, Patricia N PN

Publication Date: 2021-12-03

Variant appearance in text: MSH6: 10C>T; Q4X

PubMed Link: 34861889

Variant Present in the following documents:

• Main text
• 13073_2021_Article_998.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: 10C>T; Q4X; rs786201042

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 Prognosis of Lynch Syndrome and Sporadic Mismatch Repair Deficiency in Endometrial Cancer.

Journal Of The National Cancer Institute

Post, Cathalijne C B CCB; Stelloo, Ellen E; Smit, Vincent T H B M VTHBM; Ruano, Dina D; Tops, Carli M CM; Vermij, Lisa L; Rutten, Tessa A TA; Jürgenliemk-Schulz, Ina M IM; Lutgens, Ludy C H W LCHW; Jobsen, Jan J JJ; Nout, Remi A RA; Crosbie, Emma J EJ; Powell, Melanie E ME; Mileshkin, Linda L; Leary, Alexandra A; Bessette, Paul P; Putter, Hein H; de Boer, Stephanie M SM; Horeweg, Nanda N; Nielsen, Maartje M; Wezel, Tom van TV; Bosse, Tjalling T; Creutzberg, Carien L CL

Publication Date: 2021-09-04

Variant appearance in text: MSH6: 10C>T

PubMed Link: 33693762

Variant Present in the following documents:

• Main text
• djab029.pdf

View BVdb publication page

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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: MSH6: 10C>T; Q4*

PubMed Link: 33230298

Variant Present in the following documents:

• NIHMS1637640-supplement-SuppData1.xlsx, sheet 1

View BVdb publication page

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Constitutional mismatch repair deficiency is the diagnosis in 0.41% of pathogenic NF1/SPRED1 variant negative children suspected of sporadic neurofibromatosis type 1.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics

Perez-Valencia, Juan A JA; Gallon, Richard R; Chen, Yunjia Y; Koch, Jakob J; Keller, Markus M; Oberhuber, Klaus K; Gomes, Alicia A; Zschocke, Johannes J; Burn, John J; Jackson, Michael S MS; Santibanez-Koref, Mauro M; Messiaen, Ludwine L; Wimmer, Katharina K

Publication Date: 2020-12

Variant appearance in text: MSH6: 10C>T; Gln4*

PubMed Link: 32773772

Variant Present in the following documents:

• Main text
• 41436_2020_Article_925.pdf

View BVdb publication page

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Temporospatial genomic profiling in glioblastoma identifies commonly altered core pathways underlying tumor progression.

Neuro-Oncology Advances

Blomquist, Mylan R MR; Ensign, Shannon Fortin SF; D'Angelo, Fulvio F; Phillips, Joanna J JJ; Ceccarelli, Michele M; Peng, Sen S; Halperin, Rebecca F RF; Caruso, Francesca P FP; Garofano, Luciano L; Byron, Sara A SA; Liang, Winnie S WS; Craig, David W DW; Carpten, John D JD; Prados, Michael D MD; Trent, Jeffrey M JM; Berens, Michael E ME; Iavarone, Antonio A; Dhruv, Harshil H; Tran, Nhan L NL

Publication Date: 2020

Variant appearance in text: MSH6: Q4X

PubMed Link: 32743548

Variant Present in the following documents:

• vdaa078_suppl_supplementary_table_9.xlsx, sheet 1

View BVdb publication page

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Precision medicine integrating whole-genome sequencing, comprehensive metabolomics, and advanced imaging.

Proceedings Of The National Academy Of Sciences Of The United States Of America

Hou, Ying-Chen Claire YC; Yu, Hung-Chun HC; Martin, Rick R; Cirulli, Elizabeth T ET; Schenker-Ahmed, Natalie M NM; Hicks, Michael M; Cohen, Isaac V IV; Jönsson, Thomas J TJ; Heister, Robyn R; Napier, Lori L; Swisher, Christine Leon CL; Dominguez, Saints S; Tang, Haibao H; Li, Weizhong W; Perkins, Bradley A BA; Barea, Jaime J; Rybak, Christina C; Smith, Emily E; Duchicela, Keegan K; Doney, Michael M; Brar, Pamila P; Hernandez, Nathaniel N; Kirkness, Ewen F EF; Kahn, Andrew M AM; Venter, J Craig JC; Karow, David S DS; Caskey, C Thomas CT

Publication Date: 2020-02-11

Variant appearance in text: MSH6: 10C>T

PubMed Link: 31980526

Variant Present in the following documents:

• Main text
• pnas.201909378.pdf

View BVdb publication page

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Lynch syndrome-associated ultra-hypermutated pediatric glioblastoma mimicking a constitutional mismatch repair deficiency syndrome.

Cold Spring Harbor Molecular Case Studies

Yang, Chen C; Austin, Frances F; Richard, Hope H; Idowu, Michael M; Williamson, Vernell V; Sabato, Fernanda F; Ferreira-Gonzalez, Andrea A; Turner, Scott A SA

Publication Date: 2019-10

Variant appearance in text: MSH6: 10C>T; Gln4*

PubMed Link: 31604779

Variant Present in the following documents:

• Main text
• MCS003863Yan.pdf

View BVdb publication page

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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: MSH6: 10C>T; Gln4X

PubMed Link: 30787465

Variant Present in the following documents:

• NIHMS1525468-supplement-Large_Excel_File.xlsx, sheet 6

View BVdb publication page

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Recent progress in Lynch syndrome and other familial colorectal cancer syndromes.

Ca: A Cancer Journal For Clinicians

Boland, Patrick M PM; Yurgelun, Matthew B MB; Boland, C Richard CR

Publication Date: 2018-05

Variant appearance in text: MSH6: Q4*

PubMed Link: 29485237

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: 10C>T; Gln4Ter

PubMed Link: 28569743

Variant Present in the following documents:

• gim201760x7.xlsx, sheet 2

View BVdb publication page

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NF1-mutated melanoma tumors harbor distinct clinical and biological characteristics.

Molecular Oncology

Cirenajwis, Helena H; Lauss, Martin M; Ekedahl, Henrik H; Törngren, Therese T; Kvist, Anders A; Saal, Lao H LH; Olsson, Håkan H; Staaf, Johan J; Carneiro, Ana A; Ingvar, Christian C; Harbst, Katja K; Hayward, Nicholas K NK; Jönsson, Göran G

Publication Date: 2017-04

Variant appearance in text: MSH6: 10C>T

PubMed Link: 28267273

Variant Present in the following documents:

• MOL2-11-438-s003.xls, sheet 1

View BVdb publication page

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Exome sequencing covers >98% of mutations identified on targeted next generation sequencing panels.

Plos One

LaDuca, Holly H; Farwell, Kelly D KD; Vuong, Huy H; Lu, Hsiao-Mei HM; Mu, Wenbo W; Shahmirzadi, Layla L; Tang, Sha S; Chen, Jefferey J; Bhide, Shruti S; Chao, Elizabeth C EC

Publication Date: 2017

Variant appearance in text: MSH6: 10C>T; Q4*

PubMed Link: 28152038

Variant Present in the following documents:

• pone.0170843.s003.xlsx, sheet 1
• pone.0170843.s004.xlsx, sheet 1

View BVdb publication page

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The impact of tumor profiling approaches and genomic data strategies for cancer precision medicine.

Genome Medicine

Garofalo, Andrea A; Sholl, Lynette L; Reardon, Brendan B; Taylor-Weiner, Amaro A; Amin-Mansour, Ali A; Miao, Diana D; Liu, David D; Oliver, Nelly N; MacConaill, Laura L; Ducar, Matthew M; Rojas-Rudilla, Vanesa V; Giannakis, Marios M; Ghazani, Arezou A; Gray, Stacy S; Janne, Pasi P; Garber, Judy J; Joffe, Steve S; Lindeman, Neal N; Wagle, Nikhil N; Garraway, Levi A LA; Van Allen, Eliezer M EM

Publication Date: 2016-07-26

Variant appearance in text: MSH6: 10C>T; Q4*

PubMed Link: 27460824

Variant Present in the following documents:

• 13073_2016_333_MOESM5_ESM.xlsx, sheet 1

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: MSH6: 10C>T; Q4*

PubMed Link: 27397505

Variant Present in the following documents:

• mmc3.xlsx, sheet 3

View BVdb publication page

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