Publications:

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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: MSH6: 3246G>T

PubMed Link: 36865205

Variant Present in the following documents:

• media-10.xlsx, sheet 1
• media-8.xlsx, sheet 1

View BVdb publication page

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Clinical relevance of pathogenic germline variants in mismatch repair genes in Chinese breast cancer patients.

Npj Breast Cancer

Hu, Li L; Sun, Jie J; Li, Zhongwu Z; Qu, Ziwei Z; Liu, Yan Y; Wan, Qiting Q; Liu, Jiaming J; Ding, Xinyun X; Zang, Fan F; Zhang, Juan J; Yao, Lu L; Xu, Ye Y; Wang, Yin Y; Xie, Yuntao Y

Publication Date: 2022-04-21

Variant appearance in text: N/A

PubMed Link: 35449176

Variant Present in the following documents:

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: rs3136351

PubMed Link: 34172528

Variant Present in the following documents:

• jmedgenet-2021-107886supp006.xlsx, sheet 3
• jmedgenet-2021-107886supp003.xlsx, sheet 3

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Prevalence of germline pathogenic variants in 22 cancer susceptibility genes in Swedish pediatric cancer patients.

Scientific Reports

von Stedingk, Kristoffer K; Stjernfelt, Karl-Johan KJ; Kvist, Anders A; Wahlström, Cecilia C; Kristoffersson, Ulf U; Stenmark-Askmalm, Marie M; Wiebe, Thomas T; Hjorth, Lars L; Koster, Jan J; Olsson, Håkan H; Øra, Ingrid I

Publication Date: 2021-03-05

Variant appearance in text: N/A

PubMed Link: 33674644

Variant Present in the following documents:

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: MSH6: 3246G>T

PubMed Link: 32849802

Variant Present in the following documents:

• Main text
• fgene-11-00798.pdf
• Data_Sheet_1.xlsx, sheet 3
• Data_Sheet_1.xlsx, sheet 1

View BVdb publication page

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Genomic variation as a marker of response to neoadjuvant therapy in locally advanced rectal cancer.

Molecular & Cellular Oncology

Douglas, Jason K JK; Callahan, Rose E RE; Hothem, Zachary A ZA; Cousineau, Craig S CS; Kawak, Samer S; Thibodeau, Bryan J BJ; Bergeron, Shelli S; Li, Wei W; Peeples, Claire E CE; Wasvary, Harry J HJ

Publication Date: 2020

Variant appearance in text: MSH6: 3246G>T; P1082P

PubMed Link: 32391418

Variant Present in the following documents:

• Main text

View BVdb publication page

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Identifying sequence variants contributing to hereditary breast and ovarian cancer in BRCA1 and BRCA2 negative breast and ovarian cancer patients.

Scientific Reports

Jarhelle, Elisabeth E; Riise Stensland, Hilde Monica Frostad HMF; Hansen, Geir Åsmund Myge GÅM; Skarsfjord, Siri S; Jonsrud, Christoffer C; Ingebrigtsen, Monica M; Strømsvik, Nina N; Van Ghelue, Marijke M

Publication Date: 2019-12-27

Variant appearance in text: MSH6: 3246G>T; rs3136351

PubMed Link: 31882575

Variant Present in the following documents:

• 41598_2019_55515_MOESM1_ESM.pdf

View BVdb publication page

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Genomics of lethal prostate cancer at diagnosis and castration resistance.

The Journal Of Clinical Investigation

Mateo, Joaquin J; Seed, George G; Bertan, Claudia C; Rescigno, Pasquale P; Dolling, David D; Figueiredo, Ines I; Miranda, Susana S; Nava Rodrigues, Daniel D; Gurel, Bora B; Clarke, Matthew M; Atkin, Mark M; Chandler, Rob R; Messina, Carlo C; Sumanasuriya, Semini S; Bianchini, Diletta D; Barrero, Maialen M; Petermolo, Antonella A; Zafeiriou, Zafeiris Z; Fontes, Mariane M; Perez-Lopez, Raquel R; Tunariu, Nina N; Fulton, Ben B; Jones, Robert R; McGovern, Ursula U; Ralph, Christy C; Varughese, Mohini M; Parikh, Omi O; Jain, Suneil S; Elliott, Tony T; Sandhu, Shahneen S; Porta, Nuria N; Hall, Emma E; Yuan, Wei W; Carreira, Suzanne S; de Bono, Johann S JS

Publication Date: 2020-04-01

Variant appearance in text: MSH6: 3246G>T; rs3136351

PubMed Link: 31874108

Variant Present in the following documents:

• jci-130-132031-s100.xlsx, sheet 1

View BVdb publication page

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Development and validation of a targeted gene sequencing panel for application to disparate cancers.

Scientific Reports

McCabe, Mark J MJ; Gauthier, Marie-Emilie A MA; Chan, Chia-Ling CL; Thompson, Tanya J TJ; De Sousa, Sunita M C SMC; Puttick, Clare C; Grady, John P JP; Gayevskiy, Velimir V; Tao, Jiang J; Ying, Kevin K; Cipponi, Arcadi A; Deng, Niantao N; Swarbrick, Alex A; Thomas, Melissa L ML; Lord, Reginald V RV; Johns, Amber L AL; Kohonen-Corish, Maija M; O'Toole, Sandra A SA; Clark, Jonathan J; Mueller, Simon A SA; Gupta, Ruta R; McCormack, Ann I AI; Dinger, Marcel E ME; Cowley, Mark J MJ; ,

Publication Date: 2019-11-19

Variant appearance in text: MSH6: 3246G>T; P1082P

PubMed Link: 31745186

Variant Present in the following documents:

• 41598_2019_52000_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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Intraventricular meningiomas frequently harbor NF2 mutations but lack common genetic alterations in TRAF7, AKT1, SMO, KLF4, PIK3CA, and TERT.

Acta Neuropathologica Communications

Jungwirth, Gerhard G; Warta, Rolf R; Beynon, Christopher C; Sahm, Felix F; von Deimling, Andreas A; Unterberg, Andreas A; Herold-Mende, Christel C; Jungk, Christine C

Publication Date: 2019-08-30

Variant appearance in text: N/A

PubMed Link: 31470906

Variant Present in the following documents:

View BVdb publication page

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Germline mismatch repair gene variants analyzed by universal sequencing in Japanese cancer patients.

Cancer Medicine

Kiyozumi, Yoshimi Y; Matsubayashi, Hiroyuki H; Horiuchi, Yasue Y; Higashigawa, Satomi S; Oishi, Takuma T; Abe, Masato M; Ohnami, Sumiko S; Urakami, Kenichi K; Nagashima, Takeshi T; Kusuhara, Masatoshi M; Miyake, Hidehiko H; Yamaguchi, Ken K

Publication Date: 2019-09

Variant appearance in text: N/A

PubMed Link: 31386297

Variant Present in the following documents:

View BVdb publication page

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Evolving neoantigen profiles in colorectal cancers with DNA repair defects.

Genome Medicine

Rospo, Giuseppe G; Lorenzato, Annalisa A; Amirouchene-Angelozzi, Nabil N; Magrì, Alessandro A; Cancelliere, Carlotta C; Corti, Giorgio G; Negrino, Carola C; Amodio, Vito V; Montone, Monica M; Bartolini, Alice A; Barault, Ludovic L; Novara, Luca L; Isella, Claudio C; Medico, Enzo E; Bertotti, Andrea A; Trusolino, Livio L; Germano, Giovanni G; Di Nicolantonio, Federica F; Bardelli, Alberto A

Publication Date: 2019-06-28

Variant appearance in text: MSH6: P1082P

PubMed Link: 31253177

Variant Present in the following documents:

• 13073_2019_654_MOESM2_ESM.xlsx, sheet 6

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: 3246G>T

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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Specific V-ATPase expression sub-classifies IDHwt lower-grade gliomas and impacts glioma growth in vivo.

Ebiomedicine

Terrasi, Andrea A; Bertolini, Irene I; Martelli, Cristina C; Gaudioso, Gabriella G; Di Cristofori, Andrea A; Storaci, Alessandra Maria AM; Formica, Miriam M; Bosari, Silvano S; Caroli, Manuela M; Ottobrini, Luisa L; Vaccari, Thomas T; Vaira, Valentina V

Publication Date: 2019-03

Variant appearance in text: N/A

PubMed Link: 30737087

Variant Present in the following documents:

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: Pro1082=

PubMed Link: 28569743

Variant Present in the following documents:

• gim201760x7.xlsx, sheet 2

View BVdb publication page

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De novo mutations in moderate or severe intellectual disability.

Plos Genetics

Hamdan, Fadi F FF; Srour, Myriam M; Capo-Chichi, Jose-Mario JM; Daoud, Hussein H; Nassif, Christina C; Patry, Lysanne L; Massicotte, Christine C; Ambalavanan, Amirthagowri A; Spiegelman, Dan D; Diallo, Ousmane O; Henrion, Edouard E; Dionne-Laporte, Alexandre A; Fougerat, Anne A; Pshezhetsky, Alexey V AV; Venkateswaran, Sunita S; Rouleau, Guy A GA; Michaud, Jacques L JL

Publication Date: 2014-10

Variant appearance in text: MSH6: P1082P

PubMed Link: 25356899

Variant Present in the following documents:

• pgen.1004772.s004.xlsx, sheet 16

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Very low prevalence of germline MSH6 mutations in hereditary non-polyposis colorectal cancer suspected patients with colorectal cancer without microsatellite instability.

British Journal Of Cancer

Kets, C M CM; van Krieken, J H J M JH; Hebeda, K M KM; Wezenberg, S J SJ; Goossens, M M; Brunner, H G HG; Ligtenberg, M J L MJ; Hoogerbrugge, N N

Publication Date: 2006-12-18

Variant appearance in text: MSH6: 3246G>T

PubMed Link: 17117178

Variant Present in the following documents:

• Main text

View BVdb publication page

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