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: 3029C>T; Thr1010Ile; rs768925694

PubMed Link: 36922933

Variant Present in the following documents:

• crc-22-0136-s01.xlsx, sheet 1

View BVdb publication page

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Utilization of cytologic cell blocks for targeted sequencing of solid tumors.

Cancer Medicine

Vormittag-Nocito, Erica E; Kumar, Ravindra R; Narayan, Kunwar Digvijay KD; Chen, Zhengjia Z; David, Odile O; Behm, Frederick F; Mohapatra, Gayatry G

Publication Date: 2022-09-20

Variant appearance in text: MSH6: T1010I

PubMed Link: 36125633

Variant Present in the following documents:

• Main text
• CAM4-12-4042.pdf

View BVdb publication page

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IDH-wild type glioblastomas featuring at least 30% giant cells are characterized by frequent RB1 and NF1 alterations and hypermutation.

Acta Neuropathologica Communications

Barresi, Valeria V; Simbolo, Michele M; Mafficini, Andrea A; Martini, Maurizio M; Calicchia, Martina M; Piredda, Maria Liliana ML; Ciaparrone, Chiara C; Bonizzato, Giada G; Ammendola, Serena S; Caffo, Maria M; Pinna, Giampietro G; Sala, Francesco F; Lawlor, Rita Teresa RT; Ghimenton, Claudio C; Scarpa, Aldo A

Publication Date: 2021-12-24

Variant appearance in text: MSH6: 3029C>T; Thr1010Ile

PubMed Link: 34952640

Variant Present in the following documents:

• 40478_2021_1304_MOESM3_ESM.xlsx, sheet 2

View BVdb publication page

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IDH-wild type glioblastomas featuring at least 30% giant cells are characterized by frequent RB1 and NF1 alterations and hypermutation.

Acta Neuropathologica Communications

Barresi, Valeria V; Simbolo, Michele M; Mafficini, Andrea A; Martini, Maurizio M; Calicchia, Martina M; Piredda, Maria Liliana ML; Ciaparrone, Chiara C; Bonizzato, Giada G; Ammendola, Serena S; Caffo, Maria M; Pinna, Giampietro G; Sala, Francesco F; Lawlor, Rita Teresa RT; Ghimenton, Claudio C; Scarpa, Aldo A

Publication Date: 2021-12-24

Variant appearance in text: MSH6: 3029C>T; Thr1010Ile

PubMed Link: 34952640

Variant Present in the following documents:

• 40478_2021_1304_MOESM3_ESM.xlsx, sheet 2

View BVdb publication page

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Validation and clinical application of a targeted next-generation sequencing gene panel for solid and hematologic malignancies.

Peerj

Prieto-Potin, Iván I; Carvajal, Nerea N; Plaza-Sánchez, Jenifer J; Manso, Rebeca R; Aúz-Alexandre, Carmen Laura CL; Chamizo, Cristina C; Zazo, Sandra S; López-Sánchez, Almudena A; Rodríguez-Pinilla, Socorro María SM; Camacho, Laura L; Longarón, Raquel R; Bellosillo, Beatriz B; Somoza, Rosa R; Hernández-Losa, Javier J; Fernández-Soria, Víctor Manuel VM; Ramos-Ruiz, Ricardo R; Cristóbal, Ion I; García-Foncillas, Jesús J; Rojo, Federico F

Publication Date: 2020

Variant appearance in text: MSH6: 3029C>T; Thr1010Ile

PubMed Link: 33083132

Variant Present in the following documents:

• peerj-08-10069-s012.xlsx, sheet 1
• peerj-08-10069-s013.xlsx, sheet 1
• peerj-08-10069-s010.xlsx, sheet 1

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: 3029C>T; T1010I

PubMed Link: 31874108

Variant Present in the following documents:

• jci-130-132031-s100.xlsx, sheet 1

View BVdb publication page

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Response to Mammalian Target of Rapamycin-Based Therapy and Incidental Finding of Lynch Syndrome in a Patient With Solid Pseudopapillary Neoplasm of the Pancreas With AKT1_E17K Mutation.

Jco Precision Oncology

Cuglievan, Branko B; Subbiah, Vivek V; Wang, Huamin H; Morani, Ajaykumar A; Meric-Bernstam, Funda F; Holla, Vijaykumar V; Herzog, Cynthia E CE

Publication Date: 2018

Variant appearance in text: MSH6: T1010I

PubMed Link: 31650099

Variant Present in the following documents:

• Main text
• PO.18.00182.pdf

View BVdb publication page

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DNA methylation changes and somatic mutations as tumorigenic events in Lynch syndrome-associated adenomas retaining mismatch repair protein expression.

Ebiomedicine

Mäki-Nevala, Satu S; Valo, Satu S; Ristimäki, Ari A; Sarhadi, Virinder V; Knuutila, Sakari S; Nyström, Minna M; Renkonen-Sinisalo, Laura L; Lepistö, Anna A; Mecklin, Jukka-Pekka JP; Peltomäki, Päivi P

Publication Date: 2019-01

Variant appearance in text: MSH6: Thr1010Ile

PubMed Link: 30578081

Variant Present in the following documents:

• mmc1.pdf

View BVdb publication page

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Computational development of a molecular-based approach to improve risk stratification of endometrial cancer patients.

Oncotarget

Torricelli, Federica F; Nicoli, Davide D; Bellazzi, Riccardo R; Ciarrocchi, Alessia A; Farnetti, Enrico E; Mastrofilippo, Valentina V; Zamponi, Raffaella R; La Sala, Giovanni Battista GB; Casali, Bruno B; Mandato, Vincenzo Dario VD

Publication Date: 2018-05-22

Variant appearance in text: MSH6: 3029C>T

PubMed Link: 29876005

Variant Present in the following documents:

• oncotarget-09-25517-s001.pdf

View BVdb publication page

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Unexpected cancer-predisposition gene variants in Cowden syndrome and Bannayan-Riley-Ruvalcaba syndrome patients without underlying germline PTEN mutations.

Plos Genetics

Yehia, Lamis L; Ni, Ying Y; Sesock, Kaitlin K; Niazi, Farshad F; Fletcher, Benjamin B; Chen, Hannah Jin Lian HJL; LaFramboise, Thomas T; Eng, Charis C

Publication Date: 2018-04

Variant appearance in text: MSH6: T1010I

PubMed Link: 29684080

Variant Present in the following documents:

• pgen.1007352.s009.xlsx, sheet 1

View BVdb publication page

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Mutational and gene fusion analyses of primary large cell and large cell neuroendocrine lung cancer.

Oncotarget

Karlsson, Anna A; Brunnström, Hans H; Lindquist, Kajsa Ericson KE; Jirström, Karin K; Jönsson, Mats M; Rosengren, Frida F; Reuterswärd, Christel C; Cirenajwis, Helena H; Borg, Åke Å; Jönsson, Per P; Planck, Maria M; Jönsson, Göran G; Staaf, Johan J

Publication Date: 2015-09-08

Variant appearance in text: MSH6: T1010I

PubMed Link: 26124082

Variant Present in the following documents:

• Main text
• oncotarget-06-22028.pdf

View BVdb publication page

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Evaluation of ultra-deep targeted sequencing for personalized breast cancer care.

Breast Cancer Research : Bcr

Harismendy, Olivier O; Schwab, Richard B RB; Alakus, Hakan H; Yost, Shawn E SE; Matsui, Hiroko H; Hasteh, Farnaz F; Wallace, Anne M AM; Park, Hannah L HL; Madlensky, Lisa L; Parker, Barbara B; Carpenter, Philip M PM; Jepsen, Kristen K; Anton-Culver, Hoda H; Frazer, Kelly A KA

Publication Date: 2013-12-10

Variant appearance in text: MSH6: T1010I

PubMed Link: 24326041

Variant Present in the following documents:

• bcr3584-S1.pdf

View BVdb publication page

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