Publications:

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Comprehensive proteogenomic characterization of early duodenal cancer reveals the carcinogenesis tracks of different subtypes.

Nature Communications

Li, Lingling L; Jiang, Dongxian D; Liu, Hui H; Guo, Chunmei C; Zhao, Rui R; Zhang, Qiao Q; Xu, Chen C; Qin, Zhaoyu Z; Feng, Jinwen J; Liu, Yang Y; Wang, Haixing H; Chen, Weijie W; Zhang, Xue X; Li, Bin B; Bai, Lin L; Tian, Sha S; Tan, Subei S; Yu, Zixiang Z; Chen, Lingli L; Huang, Jie J; Zhao, Jian-Yuan JY; Hou, Yingyong Y; Ding, Chen C

Publication Date: 2023-03-29

Variant appearance in text: rs7971

PubMed Link: 36991000

Variant Present in the following documents:

• 41467_2023_37221_MOESM5_ESM.xlsx, sheet 3

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Beneficial effects of mifepristone treatment in breast cancer patients selected by the progesterone receptor isoform ratio: Results from the MIPRA trial.

Clinical Cancer Research : An Official Journal Of The American Association For Cancer Research

Elía, Andrés A; Saldain, Leo L; Vanzulli, Silvia I SI; Helguero, Luisa A LA; Lamb, Caroline A CA; Fabris, Victoria V; Pataccini, Gabriela G; Martínez-Vazquez, Paula P; Burruchaga, Javier J; Caillet-Bois, Ines I; Spengler, Eunice E; Acosta Haab, Gabriela G; Liguori, Marcos M; Castets, Alejandra A; Lovisi, Silvia S; Abascal, María F MF; Novaro, Virginia V; Sánchez, Jana J; Muñoz, Javier J; Belizán, Jose M JM; Abba, Martín C MC; Gass, Hugo H; Rojas, Paola P; Lanari, Claudia C

Publication Date: 2022-10-21

Variant appearance in text: rs7971

PubMed Link: 36269797

Variant Present in the following documents:

• ccr-22-2060_supplementary_table_s5_suppts5.xlsx, sheet 1

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Uncovering the Contribution of Moderate-Penetrance Susceptibility Genes to Breast Cancer by Whole-Exome Sequencing and Targeted Enrichment Sequencing of Candidate Genes in Women of European Ancestry.

Cancers

Dumont, Martine M; Weber-Lassalle, Nana N; Joly-Beauparlant, Charles C; Ernst, Corinna C; Droit, Arnaud A; Feng, Bing-Jian BJ; Dubois, Stéphane S; Collin-Deschesnes, Annie-Claude AC; Soucy, Penny P; Vallée, Maxime M; Fournier, Frédéric F; Lemaçon, Audrey A; Adank, Muriel A MA; Allen, Jamie J; Altmüller, Janine J; Arnold, Norbert N; Ausems, Margreet G E M MGEM; Berutti, Riccardo R; Bolla, Manjeet K MK; Bull, Shelley S; Carvalho, Sara S; Cornelissen, Sten S; Dufault, Michael R MR; Dunning, Alison M AM; Engel, Christoph C; Gehrig, Andrea A; Geurts-Giele, Willemina R R WRR; Gieger, Christian C; Green, Jessica J; Hackmann, Karl K; Helmy, Mohamed M; Hentschel, Julia J; Hogervorst, Frans B L FBL; Hollestelle, Antoinette A; Hooning, Maartje J MJ; Horváth, Judit J; Ikram, M Arfan MA; Kaulfuß, Silke S; Keeman, Renske R; Kuang, Da D; Luccarini, Craig C; Maier, Wolfgang W; Martens, John W M JWM; Niederacher, Dieter D; Nürnberg, Peter P; Ott, Claus-Eric CE; Peters, Annette A; Pharoah, Paul D P PDP; Ramirez, Alfredo A; Ramser, Juliane J; Riedel-Heller, Steffi S; Schmidt, Gunnar G; Shah, Mitul M; Scherer, Martin M; Stäbler, Antje A; Strom, Tim M TM; Sutter, Christian C; Thiele, Holger H; van Asperen, Christi J CJ; van der Kolk, Lizet L; van der Luijt, Rob B RB; Volk, Alexander E AE; Wagner, Michael M; Waisfisz, Quinten Q; Wang, Qin Q; Wang-Gohrke, Shan S; Weber, Bernhard H F BHF; Genome Of The Netherlands Project, ; Ghs Study Group, ; Devilee, Peter P; Tavtigian, Sean S; Bader, Gary D GD; Meindl, Alfons A; Goldgar, David E DE; Andrulis, Irene L IL; Schmutzler, Rita K RK; Easton, Douglas F DF; Schmidt, Marjanka K MK; Hahnen, Eric E; Simard, Jacques J

Publication Date: 2022-07-11

Variant appearance in text: rs7971

PubMed Link: 35884425

Variant Present in the following documents:

• Main text
• cancers-14-03363.pdf

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Incorporating Polygenic Risk Scores and Nongenetic Risk Factors for Breast Cancer Risk Prediction Among Asian Women.

Jama Network Open

Yang, Yaohua Y; Tao, Ran R; Shu, Xiang X; Cai, Qiuyin Q; Wen, Wanqing W; Gu, Kai K; Gao, Yu-Tang YT; Zheng, Ying Y; Kweon, Sun-Seog SS; Shin, Min-Ho MH; Choi, Ji-Yeob JY; Lee, Eun-Sook ES; Kong, Sun-Young SY; Park, Boyoung B; Park, Min Ho MH; Jia, Guochong G; Li, Bingshan B; Kang, Daehee D; Shu, Xiao-Ou XO; Long, Jirong J; Zheng, Wei W

Publication Date: 2022-03-01

Variant appearance in text: rs7971

PubMed Link: 35311964

Variant Present in the following documents:

• jamanetwopen-e2149030-s001.pdf

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Genetic analysis of sinonasal undifferentiated carcinoma discovers recurrent SWI/SNF alterations and a novel PGAP3-SRPK1 fusion gene.

Bmc Cancer

Heft Neal, Molly E ME; Birkeland, Andrew C AC; Bhangale, Apurva D AD; Zhai, Jingyi J; Kulkarni, Aditi A; Foltin, Susan K SK; Jewell, Brittany M BM; Ludwig, Megan L ML; Pinatti, Lisa L; Jiang, Hui H; McHugh, Jonathan B JB; Marentette, Lawence L; McKean, Erin L EL; Brenner, J Chad JC

Publication Date: 2021-05-29

Variant appearance in text: rs7971

PubMed Link: 34051734

Variant Present in the following documents:

• 12885_2021_8370_MOESM15_ESM.xlsx, sheet 1

View BVdb publication page

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Integrated genetic and metabolic landscapes predict vulnerabilities of temozolomide resistant glioblastoma cells.

Npj Systems Biology And Applications

Immanuel, Selva Rupa Christinal SRC; Ghanate, Avinash D AD; Parmar, Dharmeshkumar S DS; Yadav, Ritu R; Uthup, Riya R; Panchagnula, Venkateswarlu V; Raghunathan, Anu A

Publication Date: 2021-01-08

Variant appearance in text: rs7971

PubMed Link: 33420045

Variant Present in the following documents:

• 41540_2020_161_MOESM3_ESM.xlsx, sheet 2
• 41540_2020_161_MOESM3_ESM.xlsx, sheet 3

View BVdb publication page

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Delineation of the Germline and Somatic Mutation Interaction Landscape in Triple-Negative and Non-Triple-Negative Breast Cancer.

International Journal Of Genomics

Wu, Jiande J; Mamidi, Tarun K K TKK; Zhang, Lu L; Hicks, Chindo C

Publication Date: 2020

Variant appearance in text: rs7971

PubMed Link: 32724790

Variant Present in the following documents:

• Main text
• IJG2020-2641370.pdf

View BVdb publication page

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Clustering of known low and moderate risk alleles rather than a novel recessive high-risk gene in non-BRCA1/2 sib trios affected with breast cancer.

International Journal Of Cancer

Hilbers, Florentine S FS; van 't Hof, Peter J PJ; Meijers, Caro M CM; Mei, Hailiang H; Michailidou, Kyriaki K; Dennis, Joe J; Hogervorst, Frans B L FBL; Nederlof, Petra M PM; van Asperen, Christi J CJ; Devilee, Peter P

Publication Date: 2020-11-15

Variant appearance in text: rs7971

PubMed Link: 32383162

Variant Present in the following documents:

• IJC-147-2708-s001.pdf

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Next-generation sequencing identified novel Desmoplakin frame-shift variant in patients with Arrhythmogenic cardiomyopathy.

Bmc Cardiovascular Disorders

Lin, Xiaoping X; Ma, Yuankun Y; Cai, Zhejun Z; Wang, Qiyuan Q; Wang, Lihua L; Huo, Zhaoxia Z; Hu, Dan D; Wang, Jian'an J; Xiang, Meixiang M

Publication Date: 2020-02-11

Variant appearance in text: rs7971

PubMed Link: 32046637

Variant Present in the following documents:

• 12872_2020_1369_MOESM1_ESM.xlsx, sheet 1

View BVdb publication page

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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: rs7971

PubMed Link: 31640808

Variant Present in the following documents:

• 13059_2019_1838_MOESM3_ESM.xlsx, sheet 1

View BVdb publication page

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A Polygenic Risk Score for Breast Cancer in US Latinas and Latin American Women.

Journal Of The National Cancer Institute

Shieh, Yiwey Y; Fejerman, Laura L; Lott, Paul C PC; Marker, Katie K; Sawyer, Sarah D SD; Hu, Donglei D; Huntsman, Scott S; Torres, Javier J; Echeverry, Magdalena M; Bohórquez, Mabel E ME; Martínez-Chéquer, Juan Carlos JC; Polanco-Echeverry, Guadalupe G; Estrada-Flórez, Ana P AP; , ; Haiman, Christopher A CA; John, Esther M EM; Kushi, Lawrence H LH; Torres-Mejía, Gabriela G; Vidaurre, Tatianna T; Weitzel, Jeffrey N JN; Zambrano, Sandro Casavilca SC; Carvajal-Carmona, Luis G LG; Ziv, Elad E; Neuhausen, Susan L SL

Publication Date: 2020-06-01

Variant appearance in text: rs7971

PubMed Link: 31553449

Variant Present in the following documents:

• djz174_supplementary_data.pdf

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Integrating Germline and Somatic Mutation Information for the Discovery of Biomarkers in Triple-Negative Breast Cancer.

International Journal Of Environmental Research And Public Health

Wu, Jiande J; Mamidi, Tarun Karthik Kumar TKK; Zhang, Lu L; Hicks, Chindo C

Publication Date: 2019-03-23

Variant appearance in text: rs7971

PubMed Link: 30909550

Variant Present in the following documents:

• Main text
• ijerph-16-01055.pdf

View BVdb publication page

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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: rs7971

PubMed Link: 30319441

Variant Present in the following documents:

• Table_7.xlsx, sheet 1
• Table_5.xlsx, sheet 1

View BVdb publication page

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Risk, Prediction and Prevention of Hereditary Breast Cancer - Large-Scale Genomic Studies in Times of Big and Smart Data.

Geburtshilfe Und Frauenheilkunde

Wunderle, Marius M; Olmes, Gregor G; Nabieva, Naiba N; Häberle, Lothar L; Jud, Sebastian M SM; Hein, Alexander A; Rauh, Claudia C; Hack, Carolin C CC; Erber, Ramona R; Ekici, Arif B AB; Hoyer, Juliane J; Vasileiou, Georgia G; Kraus, Cornelia C; Reis, André A; Hartmann, Arndt A; Schulz-Wendtland, Rüdiger R; Lux, Michael P MP; Beckmann, Matthias W MW; Fasching, Peter A PA

Publication Date: 2018-05

Variant appearance in text: rs7971

PubMed Link: 29880983

Variant Present in the following documents:

• Main text

View BVdb publication page

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Common Genetic Variation and Breast Cancer Risk-Past, Present, and Future.

Cancer Epidemiology, Biomarkers & Prevention : A Publication Of The American Association For Cancer Research, Cosponsored By The American Society Of Preventive Oncology

Lilyquist, Jenna J; Ruddy, Kathryn J KJ; Vachon, Celine M CM; Couch, Fergus J FJ

Publication Date: 2018-04

Variant appearance in text: rs7971

PubMed Link: 29382703

Variant Present in the following documents:

• Main text

View BVdb publication page

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Proteogenomic analysis prioritises functional single nucleotide variants in cancer samples.

Oncotarget

Ma, Shiyong S; Menon, Ranjeeta R; Poulos, Rebecca C RC; Wong, Jason W H JWH

Publication Date: 2017-11-10

Variant appearance in text: rs7971

PubMed Link: 29221171

Variant Present in the following documents:

• oncotarget-08-95841-s002.xlsx, sheet 1
• oncotarget-08-95841-s002.xlsx, sheet 4

View BVdb publication page

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Whole-exome sequencing analysis of Waardenburg syndrome in a Chinese family.

Human Genome Variation

Chen, Dezhong D; Zhao, Na N; Wang, Jing J; Li, Zhuoyu Z; Wu, Changxin C; Fu, Jie J; Xiao, Han H

Publication Date: 2017

Variant appearance in text: rs7971

PubMed Link: 28690861

Variant Present in the following documents:

• hgv201727-s1.xls, sheet 1

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Multiple myeloma risk variant at 7p15.3 creates an IRF4-binding site and interferes with CDCA7L expression.

Nature Communications

Li, Ni N; Johnson, David C DC; Weinhold, Niels N; Studd, James B JB; Orlando, Giulia G; Mirabella, Fabio F; Mitchell, Jonathan S JS; Meissner, Tobias T; Kaiser, Martin M; Goldschmidt, Hartmut H; Hemminki, Kari K; Morgan, Gareth J GJ; Houlston, Richard S RS

Publication Date: 2016-11-24

Variant appearance in text: rs7971

PubMed Link: 27882933

Variant Present in the following documents:

• ncomms13656-s1.pdf

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Integrated mRNA and microRNA transcriptome sequencing characterizes sequence variants and mRNA-microRNA regulatory network in nasopharyngeal carcinoma model systems.

Febs Open Bio

Szeto, Carol Ying-Ying CY; Lin, Chi Ho CH; Choi, Siu Chung SC; Yip, Timothy T C TT; Ngan, Roger Kai-Cheong RK; Tsao, George Sai-Wah GS; Li Lung, Maria M

Publication Date: 2014

Variant appearance in text: rs7971

PubMed Link: 24490137

Variant Present in the following documents:

• mmc5.xlsx, sheet 2

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The CCND1 c.870G>A polymorphism is a risk factor for t(11;14)(q13;q32) multiple myeloma.

Nature Genetics

Weinhold, Niels N; Johnson, David C DC; Chubb, Daniel D; Chen, Bowang B; Försti, Asta A; Hosking, Fay J FJ; Broderick, Peter P; Ma, Yussanne P YP; Dobbins, Sara E SE; Hose, Dirk D; Walker, Brian A BA; Davies, Faith E FE; Kaiser, Martin F MF; Li, Ni L NL; Gregory, Walter A WA; Jackson, Graham H GH; Witzens-Harig, Mathias M; Neben, Kai K; Hoffmann, Per P; Nöthen, Markus M MM; Mühleisen, Thomas W TW; Eisele, Lewin L; Ross, Fiona M FM; Jauch, Anna A; Goldschmidt, Hartmut H; Houlston, Richard S RS; Morgan, Gareth J GJ; Hemminki, Kari K

Publication Date: 2013-05

Variant appearance in text: rs7971

PubMed Link: 23502783

Variant Present in the following documents:

• NIHMS53125-supplement-1.pdf

View BVdb publication page

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