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: 1035G>A; Trp345Ter; rs63750396

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: MSH2: 1035G>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

View BVdb publication page

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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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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: 1035G>A; Trp345Ter; rs63750396

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: MSH2: 1035G>A; Trp345Ter; rs63750396

PubMed Link: 34172528

Variant Present in the following documents:

• jmedgenet-2021-107886supp006.xlsx, sheet 2

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: MSH2: 1035G>A; W345*

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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Early Colorectal Cancers Provide New Evidence for a Lynch Syndrome-to-CMMRD Phenotypic Continuum.

Cancers

Fernandez-Rozadilla, Ceres C; Alvarez-Barona, Miriam M; Schamschula, Esther E; Bodo, Sahra S; Lopez-Novo, Anael A; Dacal, Andres A; Calviño-Costas, Consuelo C; Lancho, Angel A; Amigo, Jorge J; Bello, Xabier X; Cameselle-Teijeiro, Jose Manuel JM; Carracedo, Angel A; Colas, Chrystelle C; Muleris, Martine M; Wimmer, Katharina K; Ruiz-Ponte, Clara C

Publication Date: 2019-07-30

Variant appearance in text: MSH2: 1035G>A

PubMed Link: 31366136

Variant Present in the following documents:

• Main text
• cancers-11-01081.pdf

View BVdb publication page

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Microsatellite Instability Occurs in a Subset of Follicular Thyroid Cancers.

Thyroid : Official Journal Of The American Thyroid Association

Genutis, Luke K LK; Tomsic, Jerneja J; Bundschuh, Ralf A RA; Brock, Pamela L PL; Williams, Michelle D MD; Roychowdhury, Sameek S; Reeser, Julie W JW; Frankel, Wendy L WL; Alsomali, Mohammed M; Routbort, Mark J MJ; Broaddus, Russell R RR; Wakely, Paul E PE; Phay, John E JE; Walker, Christopher J CJ; de la Chapelle, Albert A

Publication Date: 2019-04

Variant appearance in text: MSH2: 1035G>A; W345*

PubMed Link: 30747051

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: MSH2: 1035G>A; Trp345Ter

PubMed Link: 28569743

Variant Present in the following documents:

• gim201760x7.xlsx, sheet 2

View BVdb publication page

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Hereditary cancer syndromes in Latino populations: genetic characterization and surveillance guidelines.

Hereditary Cancer In Clinical Practice

Cruz-Correa, Marcia M; Pérez-Mayoral, Julyann J; Dutil, Julie J; Echenique, Miguel M; Mosquera, Rafael R; Rivera-Román, Keila K; Umpierre, Sharee S; Rodriguez-Quilichini, Segundo S; Gonzalez-Pons, Maria M; Olivera, Myrta I MI; Pardo, Sherly S; ,

Publication Date: 2017

Variant appearance in text: MSH2: 1035G>A; Trp345*

PubMed Link: 28127413

Variant Present in the following documents:

• Main text
• 13053_2017_Article_63.pdf

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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