Publications:

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: MLH1: 474C>T; rs4647256

PubMed Link: 31874108

Variant Present in the following documents:

• jci-130-132031-s100.xlsx, sheet 1

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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: MLH1: 474C>T; Asn158=

PubMed Link: 28569743

Variant Present in the following documents:

• gim201760x7.xlsx, sheet 2

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Specific variants in the MLH1 gene region may drive DNA methylation, loss of protein expression, and MSI-H colorectal cancer.

Plos One

Mrkonjic, Miralem M; Roslin, Nicole M NM; Greenwood, Celia M CM; Raptis, Stavroula S; Pollett, Aaron A; Laird, Peter W PW; Pethe, Vaijayanti V VV; Chiang, Theodore T; Daftary, Darshana D; Dicks, Elizabeth E; Thibodeau, Stephen N SN; Gallinger, Steven S; Parfrey, Patrick S PS; Younghusband, H Banfield HB; Potter, John D JD; Hudson, Thomas J TJ; McLaughlin, John R JR; Green, Roger C RC; Zanke, Brent W BW; Newcomb, Polly A PA; Paterson, Andrew D AD; Bapat, Bharati B

Publication Date: 2010-10-13

Variant appearance in text: MLH1: N158N; rs4647256

PubMed Link: 20967208

Variant Present in the following documents:

• pone.0013314.s001.xls, sheet 1

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De novo constitutional MLH1 epimutations confer early-onset colorectal cancer in two new sporadic Lynch syndrome cases, with derivation of the epimutation on the paternal allele in one.

International Journal Of Cancer

Goel, Ajay A; Nguyen, Thuy-Phuong TP; Leung, Hon-Chiu E HC; Nagasaka, Takeshi T; Rhees, Jennifer J; Hotchkiss, Erin E; Arnold, Mildred M; Banerji, Pia P; Koi, Minoru M; Kwok, Chau-To CT; Packham, Deborah D; Lipton, Lara L; Boland, C Richard CR; Ward, Robyn L RL; Hitchins, Megan P MP

Publication Date: 2011-02-15

Variant appearance in text: MLH1: 474C>T; rs4647256

PubMed Link: 20473912

Variant Present in the following documents:

• Main text

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Assay validation for identification of hereditary nonpolyposis colon cancer-causing mutations in mismatch repair genes MLH1, MSH2, and MSH6.

The Journal Of Molecular Diagnostics : Jmd

Hegde, Madhuri M; Blazo, Maria M; Chong, Belinda B; Prior, Tom T; Richards, Carolyn C

Publication Date: 2005-10

Variant appearance in text: MLH1: N158N

PubMed Link: 16237223

Variant Present in the following documents:

• Main text

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