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: MSH2: 1034G>A; Trp345Ter; rs63751027

PubMed Link: 36922933

Variant Present in the following documents:

• crc-22-0136-s01.xlsx, sheet 1

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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: MSH2: 1034G>A

PubMed Link: 36865205

Variant Present in the following documents:

• media-10.xlsx, sheet 1

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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: MSH2: 1034G>A; Trp345Ter

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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Potential Targeted Therapies in Ovarian Cancer.

Pharmaceuticals (Basel, Switzerland)

Sisman, Yagmur Y; Vestergaard, Lau Kræsing LK; de Oliveira, Douglas Nogueira Perez DNP; Poulsen, Tim Svenstrup TS; Schnack, Tine Henrichsen TH; Høgdall, Claus C; Høgdall, Estrid E

Publication Date: 2022-10-26

Variant appearance in text: MSH2: Trp345Ter

PubMed Link: 36355495

Variant Present in the following documents:

• pharmaceuticals-15-01324.pdf

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Integrated gene analyses of de novo variants from 46,612 trios with autism and developmental disorders.

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

Wang, Tianyun T; Kim, Chang N CN; Bakken, Trygve E TE; Gillentine, Madelyn A MA; Henning, Barbara B; Mao, Yafei Y; Gilissen, Christian C; , ; Nowakowski, Tomasz J TJ; Eichler, Evan E EE

Publication Date: 2022-11-15

Variant appearance in text: MSH2: 1034G>A; Trp345*

PubMed Link: 36350923

Variant Present in the following documents:

• pnas.2203491119.sd01.xlsx, sheet 1

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Disease similarity network analysis of Autism Spectrum Disorder and comorbid brain disorders.

Frontiers In Molecular Neuroscience

Vilela, Joana J; Martiniano, Hugo H; Marques, Ana Rita AR; Santos, João Xavier JX; Rasga, Célia C; Oliveira, Guiomar G; Vicente, Astrid Moura AM

Publication Date: 2022

Variant appearance in text: MSH2: W345X

PubMed Link: 36061363

Variant Present in the following documents:

• Table_7.xlsx, sheet 1

View BVdb publication page

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Integrating de novo and inherited variants in 42,607 autism cases identifies mutations in new moderate-risk genes.

Nature Genetics

Zhou, Xueya X; Feliciano, Pamela P; Shu, Chang C; Wang, Tianyun T; Astrovskaya, Irina I; Hall, Jacob B JB; Obiajulu, Joseph U JU; Wright, Jessica R JR; Murali, Shwetha C SC; Xu, Simon Xuming SX; Brueggeman, Leo L; Thomas, Taylor R TR; Marchenko, Olena O; Fleisch, Christopher C; Barns, Sarah D SD; Snyder, LeeAnne Green LG; Han, Bing B; Chang, Timothy S TS; Turner, Tychele N TN; Harvey, William T WT; Nishida, Andrew A; O'Roak, Brian J BJ; Geschwind, Daniel H DH; , ; Michaelson, Jacob J JJ; Volfovsky, Natalia N; Eichler, Evan E EE; Shen, Yufeng Y; Chung, Wendy K WK

Publication Date: 2022-09

Variant appearance in text: MSH2: 1034G>A; W345*

PubMed Link: 35982159

Variant Present in the following documents:

• 41588_2022_1148_MOESM5_ESM.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: MSH2: 1034G>A; Trp345Ter; rs63751027

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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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: MSH2: 1034G>A; Trp345Ter

PubMed Link: 32849802

Variant Present in the following documents:

• Data_Sheet_1.xlsx, sheet 3

View BVdb publication page

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Naproxen chemoprevention promotes immune activation in Lynch syndrome colorectal mucosa.

Gut

Reyes-Uribe, Laura L; Wu, Wenhui W; Gelincik, Ozkan O; Bommi, Prashant V PV; Francisco-Cruz, Alejandro A; Solis, Luisa M LM; Lynch, Patrick M PM; Lim, Ramona R; Stoffel, Elena M EM; Kanth, Priyanka P; Samadder, N Jewel NJ; Mork, Maureen E ME; Taggart, Melissa W MW; Milne, Ginger L GL; Marnett, Lawrence J LJ; Vornik, Lana L; Liu, Diane D DD; Revuelta, Maria M; Chang, Kyle K; You, Y Nancy YN; Kopelovich, Levy L; Wistuba, Ignacio I II; Lee, J Jack JJ; Sei, Shizuko S; Shoemaker, Robert H RH; Szabo, Eva E; Richmond, Ellen E; Umar, Asad A; Perloff, Marjorie M; Brown, Powel H PH; Lipkin, Steven M SM; Vilar, Eduardo E

Publication Date: 2021-03

Variant appearance in text: MSH2: 1034G>A

PubMed Link: 32641470

Variant Present in the following documents:

• gutjnl-2020-320946supp002.pdf

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Rare genetic susceptibility variants assessment in autism spectrum disorder: detection rate and practical use.

Translational Psychiatry

Husson, Thomas T; Lecoquierre, François F; Cassinari, Kevin K; Charbonnier, Camille C; Quenez, Olivier O; Goldenberg, Alice A; Guerrot, Anne-Marie AM; Richard, Anne-Claire AC; Drouin-Garraud, Valérie V; Brehin, Anne-Claire AC; Soleimani, Maryam M; Taton, Romain R; Rotharmel, Maud M; Rosier, Antoine A; Chambon, Pascal P; Le Meur, Nathalie N; Joly-Helas, Géraldine G; Saugier-Veber, Pascale P; Boland, Anne A; Deleuze, Jean-François JF; Olaso, Robert R; Frebourg, Thierry T; Nicolas, Gael G; Guillin, Olivier O; Campion, Dominique D

Publication Date: 2020-02-24

Variant appearance in text: MSH2: 1034G>A; Trp345*

PubMed Link: 32094338

Variant Present in the following documents:

• 41398_2020_760_MOESM2_ESM.xlsx, sheet 1

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Need for high-resolution Genetic Analysis in iPSC: Results and Lessons from the ForIPS Consortium.

Scientific Reports

Popp, Bernt B; Krumbiegel, Mandy M; Grosch, Janina J; Sommer, Annika A; Uebe, Steffen S; Kohl, Zacharias Z; Plötz, Sonja S; Farrell, Michaela M; Trautmann, Udo U; Kraus, Cornelia C; Ekici, Arif B AB; Asadollahi, Reza R; Regensburger, Martin M; Günther, Katharina K; Rauch, Anita A; Edenhofer, Frank F; Winkler, Jürgen J; Winner, Beate B; Reis, André A

Publication Date: 2018-11-21

Variant appearance in text: MSH2: 1034G>A; Trp345*

PubMed Link: 30464253

Variant Present in the following documents:

• 41598_2018_35506_MOESM5_ESM.xlsx, sheet 4

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Determining the frequency of de novo germline mutations in DNA mismatch repair genes.

Journal Of Medical Genetics

Win, Aung Ko AK; Jenkins, Mark A MA; Buchanan, Daniel D DD; Clendenning, Mark M; Young, Joanne P JP; Giles, Graham G GG; Goldblatt, Jack J; Leggett, Barbara A BA; Hopper, John L JL; Thibodeau, Stephen N SN; Lindor, Noralane M NM

Publication Date: 2011-08

Variant appearance in text:

PubMed Link: 21636617

Variant Present in the following documents:

• Main text

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Conversion analysis for mutation detection in MLH1 and MSH2 in patients with colorectal cancer.

Jama

Casey, Graham G; Lindor, Noralane M NM; Papadopoulos, Nickolas N; Thibodeau, Stephen N SN; Moskow, John J; Steelman, Scott S; Buzin, Carolyn H CH; Sommer, Steve S SS; Collins, Christine E CE; Butz, Malinda M; Aronson, Melyssa M; Gallinger, Steven S; Barker, Melissa A MA; Young, Joanne P JP; Jass, Jeremy R JR; Hopper, John L JL; Diep, Anh A; Bapat, Bharati B; Salem, Michael M; Seminara, Daniela D; Haile, Robert R; ,

Publication Date: 2005-02-16

Variant appearance in text: MSH2: 1034G>A; W345X

PubMed Link: 15713769

Variant Present in the following documents:

• Main text

View BVdb publication page

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Genetic testing among high-risk individuals in families with hereditary nonpolyposis colorectal cancer.

British Journal Of Cancer

Ponz de Leon, M M; Benatti, P P; Di Gregorio, C C; Pedroni, M M; Losi, L L; Genuardi, M M; Viel, A A; Fornasarig, M M; Lucci-Cordisco, E E; Anti, M M; Ponti, G G; Borghi, F F; Lamberti, I I; Roncucci, L L

Publication Date: 2004-02-23

Variant appearance in text: MSH2: W345X

PubMed Link: 14970868

Variant Present in the following documents:

• 90-6601529a.pdf

View BVdb publication page

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