Publications:

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Comprehensive investigating of MMR gene in hepatocellular carcinoma with chronic hepatitis B virus infection in Han Chinese population.

Frontiers In Oncology

Ma, Ning N; Jin, Ao A; Sun, Yitong Y; Jin, Yiyao Y; Sun, Yucheng Y; Xiao, Qian Q; Sha, XuanYi X; Yu, Fengxue F; Yang, Lei L; Liu, Wenxuan W; Gao, Xia X; Zhang, Xiaolin X; Li, Lu L

Publication Date: 2023

Variant appearance in text: rs1981928

PubMed Link: 37035153

Variant Present in the following documents:

• Main text
• fonc-13-1124459.pdf

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Establishment and characterization of a new mantle cell lymphoma cell line with a NOTCH2 mutation, Arbo.

Ejhaem

Safa, Firas F; Rasmussen, Terri T; Lobelle-Rich, Patricia P; Collier, Stephanie S; Milligan, Nicholas N; Schmeig, John J; Schmid, Janet J; Wiewiorowski, Carol C; Totaro, Denise D; Brown, Theresa C TC; Satyavarapu, Ishwarya I; Badoo, Melody M; Ungerleider, Nathan N; Flemington, Erik K EK; Safah, Hana H; Saba, Nakhle S NS

Publication Date: 2022-11

Variant appearance in text: rs1981928

PubMed Link: 36467812

Variant Present in the following documents:

• JHA2-3-1326-s001.xlsx, sheet 1

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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: rs1981928

PubMed Link: 34172528

Variant Present in the following documents:

• jmedgenet-2021-107886supp006.xlsx, sheet 2

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PGG.SNV: understanding the evolutionary and medical implications of human single nucleotide variations in diverse populations.

Genome Biology

Zhang, Chao C; Gao, Yang Y; Ning, Zhilin Z; Lu, Yan Y; Zhang, Xiaoxi X; Liu, Jiaojiao J; Xie, Bo B; Xue, Zhe Z; Wang, Xiaoji X; Yuan, Kai K; Ge, Xueling X; Pan, Yuwen Y; Liu, Chang C; Tian, Lei L; Wang, Yuchen Y; Lu, Dongsheng D; Hoh, Boon-Peng BP; Xu, Shuhua S

Publication Date: 2019-10-22

Variant appearance in text: rs1981928

PubMed Link: 31640808

Variant Present in the following documents:

• 13059_2019_1838_MOESM3_ESM.xlsx, sheet 1

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Genetic Polymorphisms of DNA Repair Pathways in Sporadic Colorectal Carcinogenesis.

Journal Of Cancer

Liu, Jingwei J; Zheng, Bowen B; Li, Ying Y; Yuan, Yuan Y; Xing, Chengzhong C

Publication Date: 2019

Variant appearance in text: rs1981928

PubMed Link: 31031852

Variant Present in the following documents:

• Main text
• jcav10p1417.pdf

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Genetic Evidence Supporting the Role of the Calcium Channel, CACNA1S, in Tooth Cusp and Root Patterning.

Frontiers In Physiology

Laugel-Haushalter, Virginie V; Morkmued, Supawich S; Stoetzel, Corinne C; Geoffroy, Véronique V; Muller, Jean J; Boland, Anne A; Deleuze, Jean-François JF; Chennen, Kirsley K; Pitiphat, Waranuch W; Dollfus, Hélène H; Niederreither, Karen K; Bloch-Zupan, Agnès A; Pungchanchaikul, Patimaporn P

Publication Date: 2018

Variant appearance in text: rs1981928

PubMed Link: 30319441

Variant Present in the following documents:

• Table_7.xlsx, sheet 1
• Table_6.xlsx, sheet 1

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Investigation of DNA repair-related SNPs underlying susceptibility to papillary thyroid carcinoma reveals MGMT as a novel candidate gene in Belarusian children exposed to radiation.

Bmc Cancer

Lonjou, Christine C; Damiola, Francesca F; Moissonnier, Monika M; Durand, Geoffroy G; Malakhova, Irina I; Masyakin, Vladimir V; Le Calvez-Kelm, Florence F; Cardis, Elisabeth E; Byrnes, Graham G; Kesminiene, Ausrele A; Lesueur, Fabienne F

Publication Date: 2017-05-12

Variant appearance in text: rs1981928

PubMed Link: 28499365

Variant Present in the following documents:

• 12885_2017_3314_MOESM1_ESM.xls, sheet 1

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A comprehensive custom panel design for routine hereditary cancer testing: preserving control, improving diagnostics and revealing a complex variation landscape.

Scientific Reports

Castellanos, Elisabeth E; Gel, Bernat B; Rosas, Inma I; Tornero, Eva E; Santín, Sheila S; Pluvinet, Raquel R; Velasco, Juan J; Sumoy, Lauro L; Del Valle, Jesús J; Perucho, Manuel M; Blanco, Ignacio I; Navarro, Matilde M; Brunet, Joan J; Pineda, Marta M; Feliubadaló, Lidia L; Capellá, Gabi G; Lázaro, Conxi C; Serra, Eduard E

Publication Date: 2017-01-04

Variant appearance in text: rs1981928

PubMed Link: 28051113

Variant Present in the following documents:

• srep39348-s1.pdf

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PredictSNP2: A Unified Platform for Accurately Evaluating SNP Effects by Exploiting the Different Characteristics of Variants in Distinct Genomic Regions.

Plos Computational Biology

Bendl, Jaroslav J; Musil, Miloš M; Štourač, Jan J; Zendulka, Jaroslav J; Damborský, Jiří J; Brezovský, Jan J

Publication Date: 2016-05

Variant appearance in text: rs1981928

PubMed Link: 27224906

Variant Present in the following documents:

• pcbi.1004962.s021.pdf

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Inversion of exons 1-7 of the MSH2 gene is a frequent cause of unexplained Lynch syndrome in one local population.

Familial Cancer

Rhees, Jennifer J; Arnold, Mildred M; Boland, C Richard CR

Publication Date: 2014-06

Variant appearance in text: rs1981928

PubMed Link: 24114314

Variant Present in the following documents:

• Main text

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Investigation of the effects of DNA repair gene polymorphisms on the risk of colorectal cancer.

Mutagenesis

Tomlinson, Ian P M IP; Houlston, Richard S RS; Montgomery, Grant W GW; Sieber, Oliver M OM; Dunlop, Malcolm G MG

Publication Date: 2012-03

Variant appearance in text: rs1981928

PubMed Link: 22294770

Variant Present in the following documents:

• Main text

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Association between DNA damage response and repair genes and risk of invasive serous ovarian cancer.

Plos One

Schildkraut, Joellen M JM; Iversen, Edwin S ES; Wilson, Melanie A MA; Clyde, Merlise A MA; Moorman, Patricia G PG; Palmieri, Rachel T RT; Whitaker, Regina R; Bentley, Rex C RC; Marks, Jeffrey R JR; Berchuck, Andrew A

Publication Date: 2010-04-08

Variant appearance in text: rs1981928

PubMed Link: 20386703

Variant Present in the following documents:

• Main text

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Partial loss of heterozygosity events at the mutated gene in tumors from MLH1/MSH2 large genomic rearrangement carriers.

Bmc Cancer

Zavodna, Katarina K; Krivulcik, Tomas T; Bujalkova, Maria Gerykova MG; Slamka, Tomas T; Martinicky, David D; Ilencikova, Denisa D; Bartosova, Zdena Z

Publication Date: 2009-11-20

Variant appearance in text: rs1981928

PubMed Link: 19930554

Variant Present in the following documents:

• Main text
• 1471-2407-9-405.pdf

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