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: 3788G>A; R1263H; rs147852216

PubMed Link: 36922933

Variant Present in the following documents:

• crc-22-0136-s01.xlsx, sheet 1

View BVdb publication page

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Unexplained mismatch repair deficiency: Case closed.

Hgg Advances

Eikenboom, Ellis L EL; Moen, Sarah S; van Leeuwen, Lotte L; Geurts-Giele, Willemina R R WRR; Tops, Carli M J CMJ; van Ham, Tjakko J TJ; Dinjens, Winand N M WNM; Dubbink, Hendrikus J HJ; Spaander, Manon C W MCW; Wagner, Anja A

Publication Date: 2023-01-12

Variant appearance in text: MSH6: 3788G>A; R1263H

PubMed Link: 36624813

Variant Present in the following documents:

• Main text
• main.pdf
• mmc2.pdf

View BVdb publication page

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Next-generation sequencing in advanced Chinese melanoma reveals therapeutic targets and prognostic biomarkers for immunotherapy.

Scientific Reports

Huang, Fuxue F; Li, Jingjing J; Wen, Xizhi X; Zhu, Baoyan B; Liu, Wei W; Wang, Jiuhong J; Jiang, Hang H; Ding, Ya Y; Li, Dandan D; Zhang, Xiaoshi X

Publication Date: 2022-06-10

Variant appearance in text: MSH6: 3788G>A; R1263H; rs147852216

PubMed Link: 35688842

Variant Present in the following documents:

• 41598_2022_13391_MOESM5_ESM.xlsx, sheet 2

View BVdb publication page

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Mutation profiles in circulating cell-free DNA predict acquired resistance to olaparib in high-grade serous ovarian carcinoma.

Cancer Science

Hu, Dianxing D; Guo, Ensong E; Yang, Bin B; Qin, Xu X; Fu, Yu Y; Fan, Junpeng J; Zhuang, Xucui X; Yao, Qianqian Q; Lu, Funian F; Li, Wenting W; Xiao, Rourou R; Wu, Xue X; Yang, Xiaohang X; Wang, Zizhuo Z; Liu, Chen C; You, Lixin L; Zang, Rongyu R; Zhou, Qi Q; Zhao, Weidong W; Chen, Gang G; Sun, Chaoyang C

Publication Date: 2022-08

Variant appearance in text: MSH6: R1263H

PubMed Link: 35661486

Variant Present in the following documents:

• CAS-113-2849-s010.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: MSH6: 3788G>A; Arg1263His; rs147852216

PubMed Link: 34253785

Variant Present in the following documents:

• 41598_2021_93715_MOESM2_ESM.xlsx, sheet 8

View BVdb publication page

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Helpful Criteria When Implementing NGS Panels in Childhood Lymphoblastic Leukemia.

Journal Of Personalized Medicine

Vega-Garcia, Nerea N; Benito, Rocío R; Esperanza-Cebollada, Elena E; Llop, Marta M; Robledo, Cristina C; Vicente-Garcés, Clara C; Alonso, Javier J; Barragán, Eva E; Fernández, Guerau G; Hernández-Sánchez, Jesús M JM; Martín-Izquierdo, Marta M; Maynou, Joan J; Minguela, Alfredo A; Montaño, Adrián A; Ortega, Margarita M; Torrebadell, Montserrat M; Cervera, José J; Sánchez, Joaquín J; Jiménez-Velasco, Antonio A; Riesco, Susana S; Hernández-Rivas, Jesús M JM; Lassaletta, Álvaro Á; Fernández, José María JM; Rives, Susana S; Dapena, José Luis JL; Ramírez, Manuel M; Camós, Mireia M; On Behalf Of The Group Of Leukemia Of The Spanish Society Of Pediatric Hematology And Oncology Sehop,

Publication Date: 2020-11-26

Variant appearance in text: MSH6: 3788G>A; Arg1263His; rs147852216

PubMed Link: 33255984

Variant Present in the following documents:

• jpm-10-00244-s001.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: 3788G>A; Arg1263His

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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Sequencing of Lynch syndrome tumors reveals the importance of epigenetic alterations.

Oncotarget

Porkka, Noora N; Valo, Satu S; Nieminen, Taina T TT; Olkinuora, Alisa A; Mäki-Nevala, Satu S; Eldfors, Samuli S; Peltomäki, Päivi P

Publication Date: 2017-12-08

Variant appearance in text: MSH6: R1263H

PubMed Link: 29296220

Variant Present in the following documents:

• oncotarget-08-108020-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: 3788G>A; Arg1263His

PubMed Link: 28569743

Variant Present in the following documents:

• gim201760x7.xlsx, sheet 2

View BVdb publication page

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Germline variation in cancer-susceptibility genes in a healthy, ancestrally diverse cohort: implications for individual genome sequencing.

Plos One

Bodian, Dale L DL; McCutcheon, Justine N JN; Kothiyal, Prachi P; Huddleston, Kathi C KC; Iyer, Ramaswamy K RK; Vockley, Joseph G JG; Niederhuber, John E JE

Publication Date: 2014

Variant appearance in text: MSH6: R1263H; rs147852216

PubMed Link: 24728327

Variant Present in the following documents:

• pone.0094554.s002.xlsx, sheet 1

View BVdb publication page

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