MSH6 c.4068_4071dup ;(p.K1358Dfs*2)

Variant ID: 2-48033981-T-TTTGA

NM_000179.2(MSH6):c.4068_4071dup;(p.K1358Dfs*2)

This variant was identified in 15 publications

View GRCh38 version.




Publications:


Integrative single-cell analysis reveals transcriptional and epigenetic regulatory features of clear cell renal cell carcinoma.

Cancer Research
Yu, Zhenyuan Z; Lv, Yufang Y; Su, Cheng C; Lu, Wenhao W; Zhang, RuiRui R; Li, Jiaping J; Guo, Bingqian B; Yan, Haibiao H; Liu, Deyun D; Yang, Zhanbin Z; Mi, Hua H; Mo, Linjian L; Guo, Yi Y; Feng, Wenyu W; Xu, Haotian H; Peng, Wenyi W; Cheng, Jiwen J; Nan, Aruo A; Mo, Zengnan Z
Publication Date: 2023-01-06

Variant appearance in text: rs55740729
PubMed Link: 36607615
Variant Present in the following documents:
  • can-22-2224_table_s9_suppst9.xlsx, sheet 5
  • can-22-2224_table_s9_suppst9.xlsx, sheet 19
View BVdb publication page



Germline pathogenic variants in unselected Korean men with prostate cancer.

Investigative And Clinical Urology
So, Min-Kyung MK; Ahn, Hyun Kyu HK; Huh, Jungwon J; Kim, Kwang Hyun KH
Publication Date: 2022-05

Variant appearance in text: MSH6: 4068_4071dup; rs55740729
PubMed Link: 35534218
Variant Present in the following documents:
  • icu-63-294-s001.xls, sheet 1
View BVdb publication page



Identification of Germline Mutations in Upper Tract Urothelial Carcinoma With Suspected Lynch Syndrome.

Frontiers In Oncology
Guan, Bao B; Wang, Jie J; Li, Xuesong X; Lin, Lin L; Fang, Dong D; Kong, Wenwen W; Tian, Chuangyu C; Li, Juan J; Yang, Kunlin K; Han, Guanpeng G; Wu, Yucai Y; He, Yuhui Y; Peng, Yiji Y; Yu, Yanfei Y; He, Qun Q; He, Shiming S; Gong, Yanqing Y; Zhou, Liqun L; Tang, Qi Q
Publication Date: 2022

Variant appearance in text: rs55740729
PubMed Link: 35372080
Variant Present in the following documents:
  • Main text
  • fonc-12-774202.pdf
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: rs55740729
PubMed Link: 34172528
Variant Present in the following documents:
  • jmedgenet-2021-107886supp006.xlsx, sheet 3
  • jmedgenet-2021-107886supp003.xlsx, sheet 3
View BVdb publication page



Somatic Mutation Profiling of Papillary Thyroid Carcinomas by Whole-exome Sequencing and Its Relationship with Clinical Characteristics.

International Journal Of Medical Sciences
Qi, Tingyue T; Rong, Xin X; Feng, Qingling Q; Sun, Hongguang H; Cao, Haiyan H; Yang, Yan Y; Feng, Hao H; Zhu, Linhai L; Wang, Lei L; Du, Qiu Q
Publication Date: 2021

Variant appearance in text: rs55740729
PubMed Link: 34104084
Variant Present in the following documents:
  • Main text
  • ijmsv18p2532.pdf
  • ijmsv18p2532s2.xlsx, sheet 4
  • ijmsv18p2532s2.xlsx, sheet 1
View BVdb publication page



Patient-derived organoids in cellulosic sponge model chemotherapy response of metastatic colorectal cancer.

Clinical And Translational Medicine
Xu, Yanjie Y; Chen, Jianjun J; Huang, Yizhou Y; Luo, Yang Y; Hsieh, An-Chih AC; Chen, Jianyi J; Li, Han H; Wei, Xunbin X; Gao, Wei-Qiang WQ; Zhong, Ming M; Zhang, Yan Y
Publication Date: 2021-01

Variant appearance in text: rs55740729
PubMed Link: 33463056
Variant Present in the following documents:
  • CTM2-11-e285-s003.xlsx, sheet 17
View BVdb publication page



Unique roles of rare variants in the genetics of complex diseases in humans.

Journal Of Human Genetics
Momozawa, Yukihide Y; Mizukami, Keijiro K
Publication Date: 2021-01

Variant appearance in text: rs55740729
PubMed Link: 32948841
Variant Present in the following documents:
  • Main text
  • 10038_2020_Article_845.pdf
View BVdb publication page



Frequency and spectrum of actionable pathogenic secondary findings in Taiwanese exomes.

Molecular Genetics & Genomic Medicine
Kuo, Chieh-Wen CW; Hwu, Wuh-Liang WL; Chien, Yin-Hsiu YH; Hsu, Ching C; Hung, Miao-Zi MZ; Lin, I-Lin IL; Lai, Feipei F; Lee, Ni-Chung NC
Publication Date: 2020-10

Variant appearance in text: rs55740729
PubMed Link: 32794656
Variant Present in the following documents:
  • Main text
  • MGG3-8-e1455.pdf
View BVdb publication page



Cas9 activates the p53 pathway and selects for p53-inactivating mutations.

Nature Genetics
Enache, Oana M OM; Rendo, Veronica V; Abdusamad, Mai M; Lam, Daniel D; Davison, Desiree D; Pal, Sangita S; Currimjee, Naomi N; Hess, Julian J; Pantel, Sasha S; Nag, Anwesha A; Thorner, Aaron R AR; Doench, John G JG; Vazquez, Francisca F; Beroukhim, Rameen R; Golub, Todd R TR; Ben-David, Uri U
Publication Date: 2020-07

Variant appearance in text: rs55740729
PubMed Link: 32424350
Variant Present in the following documents:
  • NIHMS1581982-supplement-1581982_Supp_Dataset1-7.xlsx, sheet 7
View BVdb publication page



Discovery of actionable genetic alterations with targeted panel sequencing in children with relapsed or refractory solid tumors.

Plos One
Lee, Ji Won JW; Kim, Nayoung K D NKD; Lee, Soo Hyun SH; Cho, Hee Won HW; Ma, Youngeun Y; Ju, Hee Young HY; Yoo, Keon Hee KH; Sung, Ki Woong KW; Koo, Hong Hoe HH; Park, Woong-Yang WY
Publication Date: 2019

Variant appearance in text: rs55740729
PubMed Link: 31747416
Variant Present in the following documents:
  • pone.0224227.s002.xlsx, sheet 2
View BVdb publication page



Mutation Spectrum of Cancer-Associated Genes in Patients With Early Onset of Colorectal Cancer.

Frontiers In Oncology
Zhunussova, Gulnur G; Afonin, Georgiy G; Abdikerim, Saltanat S; Jumanov, Abai A; Perfilyeva, Anastassiya A; Kaidarova, Dilyara D; Djansugurova, Leyla L
Publication Date: 2019

Variant appearance in text: rs55740729
PubMed Link: 31428572
Variant Present in the following documents:
  • Main text
  • fonc-09-00673.pdf
View BVdb publication page



Hypermutagenesis in untreated adult gliomas due to inherited mismatch mutations.

International Journal Of Cancer
Sa, Jason K JK; Choi, Seung Won SW; Zhao, Junfei J; Lee, Yeri Y; Zhang, Jing J; Kong, Doo-Sik DS; Choi, Jung Won JW; Seol, Ho Jun HJ; Lee, Jung-Il JI; Iavarone, Antonio A; Rabadan, Raul R; Nam, Do-Hyun DH
Publication Date: 2019-06-15

Variant appearance in text: rs55740729
PubMed Link: 30536544
Variant Present in the following documents:
  • Main text
  • IJC-144-3023.pdf
View BVdb publication page



Mutation analysis of 13 driver genes of colorectal cancer-related pathways in Taiwanese patients.

World Journal Of Gastroenterology
Chang, Yuli Christine YC; Chang, Jan-Gowth JG; Liu, Ta-Chih TC; Lin, Chien-Yu CY; Yang, Shu-Fen SF; Ho, Cheng-Mao CM; Chen, William Tzu-Liang WT; Chang, Ya-Sian YS
Publication Date: 2016-02-21

Variant appearance in text: rs55740729
PubMed Link: 26900293
Variant Present in the following documents:
  • Main text
View BVdb publication page



Whole-genome sequencing of the world's oldest people.

Plos One
Gierman, Hinco J HJ; Fortney, Kristen K; Roach, Jared C JC; Coles, Natalie S NS; Li, Hong H; Glusman, Gustavo G; Markov, Glenn J GJ; Smith, Justin D JD; Hood, Leroy L; Coles, L Stephen LS; Kim, Stuart K SK
Publication Date: 2014

Variant appearance in text: rs55740729
PubMed Link: 25390934
Variant Present in the following documents:
  • pone.0112430.s004.xlsx, sheet 1
View BVdb publication page



Germline variation in cancer-susceptibility genes in a healthy, ancestrally diverse cohort: implications for individual genome sequencing.

Plos One
Bodian, Dale L DL; McCutcheon, Justine N JN; Kothiyal, Prachi P; Huddleston, Kathi C KC; Iyer, Ramaswamy K RK; Vockley, Joseph G JG; Niederhuber, John E JE
Publication Date: 2014

Variant appearance in text: rs55740729
PubMed Link: 24728327
Variant Present in the following documents:
  • pone.0094554.s002.xlsx, sheet 1
View BVdb publication page