Publications:

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Workflow enabling deepscale immunopeptidome, proteome, ubiquitylome, phosphoproteome, and acetylome analyses of sample-limited tissues.

Nature Communications

Abelin, Jennifer G JG; Bergstrom, Erik J EJ; Rivera, Keith D KD; Taylor, Hannah B HB; Klaeger, Susan S; Xu, Charles C; Verzani, Eva K EK; Jackson White, C C; Woldemichael, Hilina B HB; Virshup, Maya M; Olive, Meagan E ME; Maynard, Myranda M; Vartany, Stephanie A SA; Allen, Joseph D JD; Phulphagar, Kshiti K; Harry Kane, M M; Rachimi, Suzanna S; Mani, D R DR; Gillette, Michael A MA; Satpathy, Shankha S; Clauser, Karl R KR; Udeshi, Namrata D ND; Carr, Steven A SA

Publication Date: 2023-04-03

Variant appearance in text: MSH6: I981V

PubMed Link: 37012232

Variant Present in the following documents:

• 41467_2023_37547_MOESM12_ESM.xlsx, sheet 2

View BVdb publication page

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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: I981V

PubMed Link: 36922933

Variant Present in the following documents:

• crc-22-0136-s01.xlsx, sheet 1

View BVdb publication page

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Germline Testing in a Cohort of Patients at High Risk of Hereditary Cancer Predisposition Syndromes: First Two-Year Results from South Italy.

Genes

Paduano, Francesco F; Colao, Emma E; Fabiani, Fernanda F; Rocca, Valentina V; Dinatolo, Francesca F; Dattola, Adele A; D'Antona, Lucia L; Amato, Rosario R; Trapasso, Francesco F; Baudi, Francesco F; Perrotti, Nicola N; Iuliano, Rodolfo R

Publication Date: 2022-07-21

Variant appearance in text: MSH6: 2941A>G; Ile981Val; rs730881799

PubMed Link: 35886069

Variant Present in the following documents:

• Main text
• genes-13-01286.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: 2941A>G; Ile981Val; rs730881799

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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STAT3 and TP53 mutations associate with poor prognosis in anaplastic large cell lymphoma.

Leukemia

Lobello, Cosimo C; Tichy, Boris B; Bystry, Vojtech V; Radova, Lenka L; Filip, Daniel D; Mraz, Marek M; Montes-Mojarro, Ivonne-Aidee IA; Prokoph, Nina N; Larose, Hugo H; Liang, Huan-Chang HC; Sharma, Geeta G GG; Mologni, Luca L; Belada, David D; Kamaradova, Katerina K; Fend, Falko F; Gambacorti-Passerini, Carlo C; Merkel, Olaf O; Turner, Suzanne D SD; Janikova, Andrea A; Pospisilova, Sarka S

Publication Date: 2021-05

Variant appearance in text: rs730881799

PubMed Link: 33247178

Variant Present in the following documents:

• 41375_2020_1093_MOESM4_ESM.xlsx, sheet 1

View BVdb publication page

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AMLVaran: a software approach to implement variant analysis of targeted NGS sequencing data in an oncological care setting.

Bmc Medical Genomics

Wünsch, Christian C; Banck, Henrik H; Müller-Tidow, Carsten C; Dugas, Martin M

Publication Date: 2020-02-04

Variant appearance in text: MSH6: 2941A>G; I981V

PubMed Link: 32019565

Variant Present in the following documents:

• 12920_2020_668_MOESM7_ESM.xls, sheet 1
• 12920_2020_668_MOESM8_ESM.xls, sheet 1

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: 2941A>G; Ile981Val

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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appreci8: a pipeline for precise variant calling integrating 8 tools.

Bioinformatics (Oxford, England)

Sandmann, Sarah S; Karimi, Mohsen M; de Graaf, Aniek O AO; Rohde, Christian C; Göllner, Stefanie S; Varghese, Julian J; Ernsting, Jan J; Walldin, Gunilla G; van der Reijden, Bert A BA; Müller-Tidow, Carsten C; Malcovati, Luca L; Hellström-Lindberg, Eva E; Jansen, Joop H JH; Dugas, Martin M

Publication Date: 2018-12-15

Variant appearance in text: MSH6: 2941A>G; Ile981Val

PubMed Link: 29945233

Variant Present in the following documents:

• bty518_supplementary_data_s7.xlsx, sheet 2

View BVdb publication page

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Incomplete Segregation of MSH6 Frameshift Variants with Phenotype of Lynch Syndrome.

International Journal Of Molecular Sciences

Liccardo, Raffaella R; De Rosa, Marina M; Rossi, Giovanni Battista GB; Carlomagno, Nicola N; Izzo, Paola P; Duraturo, Francesca F

Publication Date: 2017-05-06

Variant appearance in text: MSH6: 2941A>G; Ile981Val

PubMed Link: 28481244

Variant Present in the following documents:

• Main text
• ijms-18-00999.pdf

View BVdb publication page

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Novel Implications in Molecular Diagnosis of Lynch Syndrome.

Gastroenterology Research And Practice

Liccardo, Raffaella R; De Rosa, Marina M; Izzo, Paola P; Duraturo, Francesca F

Publication Date: 2017

Variant appearance in text: MSH6: 2941A>G

PubMed Link: 28250766

Variant Present in the following documents:

• GRP2017-2595098.pdf

View BVdb publication page

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Targeted exome sequencing reveals distinct pathogenic variants in Iranians with colorectal cancer.

Oncotarget

Ashktorab, Hassan H; Mokarram, Pooneh P; Azimi, Hamed H; Olumi, Hasti H; Varma, Sudhir S; Nickerson, Michael L ML; Brim, Hassan H

Publication Date: 2017-01-31

Variant appearance in text: MSH6: I981V

PubMed Link: 28002797

Variant Present in the following documents:

• oncotarget-08-7852-s002.xlsx, sheet 13

View BVdb publication page

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