Publications:

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: 2319C>T

PubMed Link: 30787465

Variant Present in the following documents:

• NIHMS1525468-supplement-Large_Excel_File.xlsx, sheet 6

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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: 2319C>T; Leu773=

PubMed Link: 28569743

Variant Present in the following documents:

• gim201760x7.xlsx, sheet 2

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MSH6 germline mutations in early-onset colorectal cancer patients without family history of the disease.

British Journal Of Cancer

Pinto, C C; Veiga, I I; Pinheiro, M M; Mesquita, B B; Jeronimo, C C; Sousa, O O; Fragoso, M M; Santos, L L; Moreira-Dias, L L; Baptista, M M; Lopes, C C; Castedo, S S; Teixeira, M R MR

Publication Date: 2006-09-18

Variant appearance in text: MSH6: L773L

PubMed Link: 16940983

Variant Present in the following documents:

• Main text
• 95-6603318a.pdf

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Low prevalence of germline hMSH6 mutations in colorectal cancer families from Spain.

World Journal Of Gastroenterology

Sánchez de Abajo, Ana A; de la Hoya, Miguel M; Tosar, Alicia A; Godino, Javier J; Fernández, Juan-Manuel JM; Asenjo, Jose-Lopez JL; Villamil, Beatriz-Perez BP; Segura, Pedro-Perez PP; Diaz-Rubio, Eduardo E; Caldes, Trinidad T

Publication Date: 2005-10-07

Variant appearance in text: MSH6: 2319C>T; L773L

PubMed Link: 16270383

Variant Present in the following documents:

• Main text

View BVdb publication page