Publications:

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Clinically relevant combined effect of polygenic background, rare pathogenic germline variants, and family history on colorectal cancer incidence.

Bmc Medical Genomics

Hassanin, Emadeldin E; Spier, Isabel I; Bobbili, Dheeraj R DR; Aldisi, Rana R; Klinkhammer, Hannah H; David, Friederike F; Dueñas, Nuria N; Hüneburg, Robert R; Perne, Claudia C; Brunet, Joan J; Capella, Gabriel G; Nöthen, Markus M MM; Forstner, Andreas J AJ; Mayr, Andreas A; Krawitz, Peter P; May, Patrick P; Aretz, Stefan S; Maj, Carlo C

Publication Date: 2023-03-05

Variant appearance in text: MLH1: 1A>G

PubMed Link: 36872334

Variant Present in the following documents:

• 12920_2023_1469_MOESM1_ESM.xlsx, sheet 1

View BVdb publication page

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Network expansion of genetic associations defines a pleiotropy map of human cell biology.

Nature Genetics

Barrio-Hernandez, Inigo I; Schwartzentruber, Jeremy J; Shrivastava, Anjali A; Del-Toro, Noemi N; Gonzalez, Asier A; Zhang, Qian Q; Mountjoy, Edward E; Suveges, Daniel D; Ochoa, David D; Ghoussaini, Maya M; Bradley, Glyn G; Hermjakob, Henning H; Orchard, Sandra S; Dunham, Ian I; Anderson, Carl A CA; Porras, Pablo P; Beltrao, Pedro P

Publication Date: 2023-02-23

Variant appearance in text: MLH1: 1A>G; Met1Val

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

View BVdb publication page

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Are transient protein-protein interactions more dispensable?

Plos Computational Biology

Ghadie, Mohamed Ali MA; Xia, Yu Y

Publication Date: 2022-04

Variant appearance in text: MLH1: 1A>G; Met1Val

PubMed Link: 35404956

Variant Present in the following documents:

• pcbi.1010013.s002.xlsx, sheet 4

View BVdb publication page

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Harmonizing variant classification for return of results in the All of Us Research Program.

Human Mutation

Harrison, Steven M SM; Austin-Tse, Christina A CA; Kim, Serra S; Lebo, Matthew M; Leon, Annette A; Murdock, David D; Radhakrishnan, Aparna A; Shirts, Brian H BH; Steeves, Marcie M; Venner, Eric E; Gibbs, Richard A RA; Jarvik, Gail P GP; Rehm, Heidi L HL

Publication Date: 2022-08

Variant appearance in text: MLH1: 1A>G

PubMed Link: 34923710

Variant Present in the following documents:

• HUMU-43-1114-s002.xlsx, sheet 1

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: MLH1: 1A>G; Met1Val; rs587778967

PubMed Link: 34253785

Variant Present in the following documents:

• 41598_2021_93715_MOESM2_ESM.xlsx, sheet 7

View BVdb publication page

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Estimating dispensable content in the human interactome.

Nature Communications

Ghadie, Mohamed M; Xia, Yu Y

Publication Date: 2019-07-19

Variant appearance in text: MLH1: 1A>G; Met1Val

PubMed Link: 31324802

Variant Present in the following documents:

• 41467_2019_11180_MOESM8_ESM.xlsx, sheet 4
• 41467_2019_11180_MOESM8_ESM.xlsx, sheet 2
• 41467_2019_11180_MOESM6_ESM.xlsx, sheet 4
• 41467_2019_11180_MOESM6_ESM.xlsx, sheet 2

View BVdb publication page

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A Novel MLH1 Initiation Codon Mutation (c.3G>T) in a Large Chinese Lynch Syndrome Family with Different Onset Age and mRNA Expression Level.

Biomed Research International

Zhang, Yanni Y; Chen, Huishuang H; Peng, Zhiyu Z; Banerjee, Santasree S; Li, Wei W; Zhao, Zhaolong Z; Sun, Jianbin J; Lv, Jian J; Huang, Hui H; Bai, Ru R; Lin, Keke K; Li, Zhongxin Z

Publication Date: 2018

Variant appearance in text: MLH1: 1A>G

PubMed Link: 30539002

Variant Present in the following documents:

• Main text
• BMRI2018-1460835.pdf

View BVdb publication page

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Using Somatic Mutations from Tumors to Classify Variants in Mismatch Repair Genes.

American Journal Of Human Genetics

Shirts, Brian H BH; Konnick, Eric Q EQ; Upham, Sarah S; Walsh, Tom T; Ranola, John Michael O JMO; Jacobson, Angela L AL; King, Mary-Claire MC; Pearlman, Rachel R; Hampel, Heather H; Pritchard, Colin C CC

Publication Date: 2018-07-05

Variant appearance in text: MLH1: 1A>G

PubMed Link: 29887214

Variant Present in the following documents:

• Main text

View BVdb publication page

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Lynch syndrome mutation spectrum in New South Wales, Australia, including 55 novel mutations.

Molecular Genetics & Genomic Medicine

Sjursen, Wenche W; McPhillips, Mary M; Scott, Rodney J RJ; Talseth-Palmer, Bente A BA

Publication Date: 2016-03

Variant appearance in text: MLH1: 1A>G

PubMed Link: 27064304

Variant Present in the following documents:

• Main text
• MGG3-4-223.pdf

View BVdb publication page

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Consequences of germline variation disrupting the constitutional translational initiation codon start sites of MLH1 and BRCA2: Use of potential alternative start sites and implications for predicting variant pathogenicity.

Molecular Carcinogenesis

Parsons, Michael T MT; Whiley, Phillip J PJ; Beesley, Jonathan J; Drost, Mark M; de Wind, Niels N; Thompson, Bryony A BA; Marquart, Louise L; Hopper, John L JL; Jenkins, Mark A MA; , ; Brown, Melissa A MA; Tucker, Kathy K; Warwick, Linda L; Buchanan, Daniel D DD; Spurdle, Amanda B AB

Publication Date: 2015-07

Variant appearance in text: MLH1: 1A>G; Met1Val

PubMed Link: 24302565

Variant Present in the following documents:

• Main text

View BVdb publication page

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