Publications:

Saturation-scale functional evidence supports clinical variant interpretation in Lynch syndrome.

Genome Biology

Scott, Anthony A; Hernandez, Felicia F; Chamberlin, Adam A; Smith, Cathy C; Karam, Rachid R; Kitzman, Jacob O JO

Publication Date: 2022-12-22

Variant appearance in text: MSH2: 256G>T; E86*

PubMed Link: 36550560

Variant Present in the following documents:

• 13059_2022_2839_MOESM4_ESM.xlsx, sheet 1

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Universal Screening for Lynch Syndrome Compared with Pedigree-Based Screening: 10-Year Experience in a Tertiary Hospital.

Cancer Research And Treatment

Kim, Min Hyun MH; Kim, Duck-Woo DW; Lee, Hye Seung HS; Bang, Su Kyung SK; Seo, Soo Hyun SH; Park, Kyung Un KU; Oh, Heung-Kwon HK; Kang, Sung-Bum SB

Publication Date: 2022-03-21

Variant appearance in text: MSH2: 256G>T

PubMed Link: 35313100

Variant Present in the following documents:

• crt-2021-1512.pdf

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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: MSH2: 255delinsTT; Glu86Terfs

PubMed Link: 34253785

Variant Present in the following documents:

• 41598_2021_93715_MOESM2_ESM.xlsx, sheet 7

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Diversity spectrum analysis identifies mutation-specific effects of cancer driver genes.

Communications Biology

Dong, Xiaobao X; Huang, Dandan D; Yi, Xianfu X; Zhang, Shijie S; Wang, Zhao Z; Yan, Bin B; Chung Sham, Pak P; Chen, Kexin K; Jun Li, Mulin M

Publication Date: 2020-01-07

Variant appearance in text: MSH2: 256G>T; E86*

PubMed Link: 31925297

Variant Present in the following documents:

• 42003_2019_736_MOESM3_ESM.xlsx, sheet 1

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Clinical Validity of Next-Generation Sequencing Multi-Gene Panel Testing for Detecting Pathogenic Variants in Patients With Hereditary Breast-Ovarian Cancer Syndrome.

Annals Of Laboratory Medicine

Yoo, Jaeeun J; Lee, Gun Dong GD; Kim, Jee Hae JH; Lee, Seung Nam SN; Chae, Hyojin H; Han, Eunhee E; Kim, Yonggoo Y; Kim, Myungshin M

Publication Date: 2020-03

Variant appearance in text: MSH2: 256G>T; Glu86*

PubMed Link: 31650731

Variant Present in the following documents:

• Main text
• alm-40-148.pdf

View BVdb publication page