Publications:

Systematic review of reported association studies of monogenic genes and bladder cancer risk and confirmation analysis in a large population cohort.

Bjui Compass

Mian, Abrar A; Wei, Jun J; Shi, Zhuqing Z; Rifkin, Andrew S AS; Zheng, S Lilly SL; Glaser, Alexander P AP; Kearns, James T JT; Helfand, Brian T BT; Xu, Jianfeng J

Publication Date: 2023-03

Variant appearance in text: MSH6: 742delC; R248fs

PubMed Link: 36816149

Variant Present in the following documents:

• BCO2-4-156-s001.xlsx, sheet 1

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Pathogenic Variant Profile of Hereditary Cancer Syndromes in a Vietnamese Cohort.

Frontiers In Oncology

Tran, Van Thuan VT; Nguyen, Sao Trung ST; Pham, Xuan Dung XD; Phan, Thanh Hai TH; Nguyen, Van Chu VC; Nguyen, Huu Thinh HT; Nguyen, Huu Phuc HP; Doan, Phuong Thao Thi PTT; Le, Tuan Anh TA; Nguyen, Bao Toan BT; Jasmine, Thanh Xuan TX; Nguyen, Duy Sinh DS; Nguyen, Hong-Dang Luu HL; Nguyen, Ngoc Mai NM; Do, Duy Xuan DX; Tran, Vu Uyen VU; Nguyen, Hue Hanh Thi HHT; Le, Minh Phong MP; Nguyen, Yen Nhi YN; Do, Thanh Thuy Thi TTT; Truong, Dinh Kiet DK; Tang, Hung Sang HS; Phan, Minh-Duy MD; Nguyen, Hoai-Nghia HN; Giang, Hoa H; Tu, Lan N LN

Publication Date: 2021

Variant appearance in text: MSH6: 742del; Arg248fs

PubMed Link: 35070997

Variant Present in the following documents:

• Main text
• fonc-11-789659.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: MSH6: 742delC; Arg248Glufs; rs587781691

PubMed Link: 34253785

Variant Present in the following documents:

• 41598_2021_93715_MOESM2_ESM.xlsx, sheet 7

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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: 742delC

PubMed Link: 30787465

Variant Present in the following documents:

• NIHMS1525468-supplement-Large_Excel_File.xlsx, sheet 6

View BVdb publication page