Publications:

---

Whole-exome Sequencing of Nigerian Prostate Tumors from the Prostate Cancer Transatlantic Consortium (CaPTC) Reveals DNA Repair Genes Associated with African Ancestry.

Cancer Research Communications

White, Jason A JA; Kaninjing, Ernest T ET; Adeniji, Kayode A KA; Jibrin, Paul P; Obafunwa, John O JO; Ogo, Chidiebere N CN; Mohammed, Faruk F; Popoola, Ademola A; Fatiregun, Omolara A OA; Oluwole, Olabode P OP; Karanam, Balasubramanyam B; Elhussin, Isra I; Ambs, Stefan S; Tang, Wei W; Davis, Melissa M; Polak, Paz P; Campbell, Moray J MJ; Brignole, Kathryn R KR; Rotimi, Solomon O SO; Dean-Colomb, Windy W; Odedina, Folake T FT; Martin, Damali N DN; Yates, Clayton C

Publication Date: 2022-09

Variant appearance in text: MSH6: 107C>T; A36V; rs61756469

PubMed Link: 36922933

Variant Present in the following documents:

• crc-22-0136-s01.xlsx, sheet 1

View BVdb publication page

---

Evaluation of AlphaFold structure-based protein stability prediction on missense variations in cancer.

Frontiers In Genetics

Keskin Karakoyun, Hilal H; Yüksel, Şirin K ŞK; Amanoglu, Ilayda I; Naserikhojasteh, Lara L; Yeşilyurt, Ahmet A; Yakıcıer, Cengiz C; Timuçin, Emel E; Akyerli, Cemaliye B CB

Publication Date: 2023

Variant appearance in text: MSH6: A36V

PubMed Link: 36896237

Variant Present in the following documents:

• Table1.xlsx, sheet 1

View BVdb publication page

---

Prognostic value of baseline genetic features and newly identified TP53 mutations in advanced breast cancer.

Molecular Oncology

Zhang, Lanxin L; Sun, Siwen S; Zhao, Xiaotian X; Liu, Jingwen J; Xu, Yang Y; Xu, Lingzhi L; Song, Chen C; Li, Na N; Yu, Jing J; Zhao, Shanshan S; Yu, Peiyao P; Fang, Fengqi F; Xie, Jiping J; Ji, Xuening X; Yu, Ruoying R; Ou, Qiuxiang Q; Zhao, Zuowei Z; Li, Man M

Publication Date: 2022-10

Variant appearance in text: MSH6: 107C>T; A36V

PubMed Link: 35971249

Variant Present in the following documents:

• MOL2-16-3689-s005.xlsx, sheet 1

View BVdb publication page

---

Pathogenicity Reclassification of Genetic Variants Related to Early-Onset Breast Cancer among Women of Mongoloid Origin.

Asian Pacific Journal Of Cancer Prevention : Apjcp

Gervas, Polina P; Molokov, Aleksey A; Babyshkina, Nataliya N; Kiselev, Artem A; Zarubin, Aleksei A; Yumov, Evgeny E; Pisareva, Lubov L; Choynzonov, Evgeny E; Cherdyntseva, Nadezda N

Publication Date: 2022-06-01

Variant appearance in text: rs61756469

PubMed Link: 35763645

Variant Present in the following documents:

• Main text
• APJCP-23-2027.pdf

View BVdb publication page

---

Clinical relevance of pathogenic germline variants in mismatch repair genes in Chinese breast cancer patients.

Npj Breast Cancer

Hu, Li L; Sun, Jie J; Li, Zhongwu Z; Qu, Ziwei Z; Liu, Yan Y; Wan, Qiting Q; Liu, Jiaming J; Ding, Xinyun X; Zang, Fan F; Zhang, Juan J; Yao, Lu L; Xu, Ye Y; Wang, Yin Y; Xie, Yuntao Y

Publication Date: 2022-04-21

Variant appearance in text: MSH6: 107C>T; A36V; rs61756469

PubMed Link: 35449176

Variant Present in the following documents:

• 41523_2022_417_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

---

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: 107C>T; Ala36Val; rs61756469

PubMed Link: 34253785

Variant Present in the following documents:

• 41598_2021_93715_MOESM2_ESM.xlsx, sheet 8

View BVdb publication page

---

Prevalence and spectrum of DNA mismatch repair gene variation in the general Chinese population.

Journal Of Medical Genetics

Zhang, Li L; Qin, Zixin Z; Huang, Teng T; Tam, Benjamin B; Ruan, Yongsen Y; Guo, Maoni M; Wu, Xiaobing X; Li, Jiaheng J; Zhao, Bojin B; Chian, Jia Sheng JS; Wang, Xiaoyu X; Wang, Lei L; Wang, San Ming SM

Publication Date: 2022-07

Variant appearance in text: MSH6: 107C>T; Ala36Val; rs61756469

PubMed Link: 34172528

Variant Present in the following documents:

• jmedgenet-2021-107886supp003.xlsx, sheet 3

View BVdb publication page

---

Germline variants in UNC13D and AP3B1 are enriched in COVID-19 patients experiencing severe cytokine storms.

European Journal Of Human Genetics : Ejhg

Luo, Hui H; Liu, Dan D; Liu, Wenbing W; Wang, Gaoxiang G; Chen, Liting L; Cao, Yang Y; Wei, Jia J; Xiao, Min M; Liu, Xin X; Huang, Gang G; Wang, Wei W; Zhou, Jianfeng J; Wang, Qian-Fei QF

Publication Date: 2021-08

Variant appearance in text: MSH6: 107C>T; Ala36Val; rs61756469

PubMed Link: 33867526

Variant Present in the following documents:

• 41431_2021_886_MOESM2_ESM.xlsx, sheet 2

View BVdb publication page

---

A next-generation sequencing-based strategy combining microsatellite instability and tumor mutation burden for comprehensive molecular diagnosis of advanced colorectal cancer.

Bmc Cancer

Xiao, Jian J; Li, Wenyun W; Huang, Yan Y; Huang, Mengli M; Li, Shanshan S; Zhai, Xiaohui X; Zhao, Jing J; Gao, Chan C; Xie, Wenzhuan W; Qin, Hao H; Cai, Shangli S; Bai, Yuezong Y; Lan, Ping P; Zou, Yifeng Y

Publication Date: 2021-03-16

Variant appearance in text: MSH6: 107C>T; A36V

PubMed Link: 33726687

Variant Present in the following documents:

• 12885_2021_7942_MOESM3_ESM.xlsx, sheet 1

View BVdb publication page

---

Alteration of DNA mismatch repair capacity underlying the co-occurrence of non-small-cell lung cancer and nonmedullary thyroid cancer.

Scientific Reports

Fujita, Shiro S; Masago, Katsuhiro K

Publication Date: 2021-02-11

Variant appearance in text: MSH6: A36V

PubMed Link: 33574476

Variant Present in the following documents:

• Main text
• 41598_2021_Article_83177.pdf

View BVdb publication page

---

Functional characterisation guides classification of novel BAP1 germline variants.

Npj Genomic Medicine

Hong, Jing Han JH; Chong, Siao Ting ST; Lee, Po-Hsien PH; Tan, Jing J; Heng, Hong Lee HL; Ishak, Nur Diana Binte NDB; Chan, Sock Hoai SH; Teh, Bin Tean BT; Ngeow, Joanne J

Publication Date: 2020

Variant appearance in text: MSH6: 107C>T; Ala36Val

PubMed Link: 33240524

Variant Present in the following documents:

• 41525_2020_157_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

---

Transcriptomic characterization and innovative molecular classification of clear cell renal cell carcinoma in the Chinese population.

Cancer Cell International

Zhao, Qiang Q; Xue, Jia J; Hong, Baoan B; Qian, Wubin W; Liu, Tiezhu T; Fan, Bin B; Cai, Jie J; Ji, Yongpeng Y; Liu, Jia J; Yang, Yong Y; Li, Qixiang Q; Guo, Sheng S; Zhang, Ning N

Publication Date: 2020

Variant appearance in text: MSH6: A36V

PubMed Link: 32982583

Variant Present in the following documents:

• 12935_2020_1552_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

---

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: 107C>T; Ala36Val

PubMed Link: 30787465

Variant Present in the following documents:

• NIHMS1525468-supplement-Large_Excel_File.xlsx, sheet 6

View BVdb publication page

---

Mismatch repair single nucleotide polymorphisms and thyroid cancer susceptibility.

Oncology Letters

Santos, Luís S LS; Silva, Susana N SN; Gil, Octávia M OM; Ferreira, Teresa C TC; Limbert, Edward E; Rueff, José J

Publication Date: 2018-05

Variant appearance in text: MSH6: Ala36Val

PubMed Link: 29616133

Variant Present in the following documents:

• Main text

View BVdb publication page

---

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: MSH6: 107C>T; Ala36Val

PubMed Link: 28569743

Variant Present in the following documents:

• gim201760x7.xlsx, sheet 2

View BVdb publication page

---

Targeted DNA Sequencing Detects Mutations Related to Susceptibility among Familial Non-medullary Thyroid Cancer.

Scientific Reports

Yu, Yang Y; Dong, Li L; Li, Dapeng D; Chuai, Shaokun S; Wu, Zhigang Z; Zheng, Xiangqian X; Cheng, Yanan Y; Han, Lei L; Yu, Jinpu J; Gao, Ming M

Publication Date: 2015-11-04

Variant appearance in text: MSH6: A36V

PubMed Link: 26530882

Variant Present in the following documents:

• Main text
• srep16129.pdf
• srep16129-s2.xls, sheet 1

View BVdb publication page

---