Publications:

---

Pan-cancer circulating tumor DNA detection in over 10,000 Chinese patients.

Nature Communications

Zhang, Yongliang Y; Yao, Yu Y; Xu, Yaping Y; Li, Lifeng L; Gong, Yan Y; Zhang, Kai K; Zhang, Meng M; Guan, Yanfang Y; Chang, Lianpeng L; Xia, Xuefeng X; Li, Lin L; Jia, Shuqin S; Zeng, Qiang Q

Publication Date: 2021-01-04

Variant appearance in text: MSH2: 1077A>C; R359S

PubMed Link: 33397889

Variant Present in the following documents:

• 41467_2020_20162_MOESM6_ESM.xlsx, sheet 1

View BVdb publication page

---

Refinement of evolutionary medicine predictions based on clinical evidence for the manifestations of Mendelian diseases.

Scientific Reports

Šimčíková, Daniela D; Heneberg, Petr P

Publication Date: 2019-12-09

Variant appearance in text: MSH2: R359S

PubMed Link: 31819097

Variant Present in the following documents:

• 41598_2019_54976_MOESM2_ESM.xlsx, sheet 8

View BVdb publication page

---

Novel Genetic Markers for Early Detection of Elevated Breast Cancer Risk in Women.

International Journal Of Molecular Sciences

Wu, Bohua B; Peng, Yunhui Y; Eggert, Julia J; Alexov, Emil E

Publication Date: 2019-09-28

Variant appearance in text: MSH2: Arg359Ser

PubMed Link: 31569399

Variant Present in the following documents:

• Main text
• ijms-20-04828-s001.pdf
• ijms-20-04828.pdf

View BVdb publication page

---

Assessing the Pathogenicity, Penetrance, and Expressivity of Putative Disease-Causing Variants in a Population Setting.

American Journal Of Human Genetics

Wright, Caroline F CF; West, Ben B; Tuke, Marcus M; Jones, Samuel E SE; Patel, Kashyap K; Laver, Thomas W TW; Beaumont, Robin N RN; Tyrrell, Jessica J; Wood, Andrew R AR; Frayling, Timothy M TM; Hattersley, Andrew T AT; Weedon, Michael N MN

Publication Date: 2019-02-07

Variant appearance in text: MSH2: R359S

PubMed Link: 30665703

Variant Present in the following documents:

• mmc3.xlsx, sheet 1

View BVdb publication page

---

Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.

Plos One

Holehouse, Alex S AS; Naegle, Kristen M KM

Publication Date: 2015

Variant appearance in text: HNPCC1: R359S

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

View BVdb publication page

---

Prognostic impact of mismatch repair genes germline defects in colorectal cancer patients: are all mutations equal?

Oncotarget

Maccaroni, Elena E; Bracci, Raffaella R; Giampieri, Riccardo R; Bianchi, Francesca F; Belvederesi, Laura L; Brugiati, Cristiana C; Pagliaretta, Silvia S; Del Prete, Michela M; Scartozzi, Mario M; Cascinu, Stefano S

Publication Date: 2015-11-17

Variant appearance in text: MSH2: R359S

PubMed Link: 26485756

Variant Present in the following documents:

• Main text
• oncotarget-06-38737.pdf

View BVdb publication page

---

GESPA: classifying nsSNPs to predict disease association.

Bmc Bioinformatics

Khurana, Jay K JK; Reeder, Jay E JE; Shrimpton, Antony E AE; Thakar, Juilee J

Publication Date: 2015-07-25

Variant appearance in text: MSH2: R359S

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 3

View BVdb publication page

---

Genotype to phenotype: analyzing the effects of inherited mutations in colorectal cancer families.

Mutation Research

Heinen, Christopher D CD

Publication Date: 2010-11-10

Variant appearance in text: MSH2: R359S

PubMed Link: 19766128

Variant Present in the following documents:

• Main text

View BVdb publication page

---