Publications:

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Molecular landscape of TP53 mutations in breast cancer and their utility for predicting the response to HER-targeted therapy in HER2 amplification-positive and HER2 mutation-positive amplification-negative patients.

Cancer Medicine

Liu, Binliang B; Yi, Zongbi Z; Guan, Yanfang Y; Ouyang, Quchang Q; Li, Chunxiao C; Guan, Xiuwen X; Lv, Dan D; Li, Lixi L; Zhai, Jingtong J; Qian, Haili H; Xu, Binghe B; Ma, Fei F; Zeng, Yixin Y

Publication Date: 2022-07

Variant appearance in text: TSC2: 3422C>T; A1141V

PubMed Link: 35393784

Variant Present in the following documents:

• CAM4-11-2767-s001.xlsx, sheet 1

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Ultrasensitive profiling of UV-induced mutations identifies thousands of subclinical facial tumors in tuberous sclerosis complex.

The Journal Of Clinical Investigation

Klonowska, Katarzyna K; Grevelink, Joannes M JM; Giannikou, Krinio K; Ogorek, Barbara A BA; Herbert, Zachary T ZT; Thorner, Aaron R AR; Darling, Thomas N TN; Moss, Joel J; Kwiatkowski, David J DJ

Publication Date: 2022-05-16

Variant appearance in text: TSC2: Ala1141Val

PubMed Link: 35358092

Variant Present in the following documents:

• jci-132-155858-s186.xlsx, sheet 1

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Architecture of the Tuberous Sclerosis Protein Complex.

Journal Of Molecular Biology

Ramlaul, Kailash K; Fu, Wencheng W; Li, Hua H; de Martin Garrido, Natàlia N; He, Lin L; Trivedi, Manjari M; Cui, Wei W; Aylett, Christopher H S CHS; Wu, Geng G

Publication Date: 2021-01-22

Variant appearance in text: TSC2: A1141V

PubMed Link: 33307091

Variant Present in the following documents:

• mmc1.pdf

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Molecular landscape and efficacy of HER2-targeted therapy in patients with HER2-mutated metastatic breast cancer.

Npj Breast Cancer

Yi, Zongbi Z; Rong, Guohua G; Guan, Yanfang Y; Li, Jin J; Chang, Lianpeng L; Li, Hui H; Liu, Binliang B; Wang, Wenna W; Guan, Xiuwen X; Ouyang, Quchang Q; Li, Lixi L; Zhai, Jingtong J; Li, Chunxiao C; Li, Lifeng L; Xia, Xuefeng X; Yang, Ling L; Qian, Haili H; Yi, Xin X; Xu, Binghe B; Ma, Fei F

Publication Date: 2020

Variant appearance in text: TSC2: 3422C>T; A1141V

PubMed Link: 33145402

Variant Present in the following documents:

• 41523_2020_201_MOESM2_ESM.xlsx, sheet 1

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REVEL and BayesDel outperform other in silico meta-predictors for clinical variant classification.

Scientific Reports

Tian, Yuan Y; Pesaran, Tina T; Chamberlin, Adam A; Fenwick, R Bryn RB; Li, Shuwei S; Gau, Chia-Ling CL; Chao, Elizabeth C EC; Lu, Hsiao-Mei HM; Black, Mary Helen MH; Qian, Dajun D

Publication Date: 2019-09-04

Variant appearance in text: TSC2: 3422C>T; A1141V

PubMed Link: 31484976

Variant Present in the following documents:

• 41598_2019_49224_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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An enhanced workflow for variant interpretation in UniProtKB/Swiss-Prot improves consistency and reuse in ClinVar.

Database : The Journal Of Biological Databases And Curation

Famiglietti, M L ML; Estreicher, A A; Breuza, L L; Poux, S S; Redaschi, N N; Xenarios, I I; Bridge, A A; ,

Publication Date: 2019-01-01

Variant appearance in text: TSC2: 3422C>T; Ala1141Val

PubMed Link: 30937429

Variant Present in the following documents:

• famiglietti_supplementarytables1_rev_baz040.xlsx, sheet 1

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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: TSC2: 3422C>T; Ala1141Val

PubMed Link: 30787465

Variant Present in the following documents:

• NIHMS1525468-supplement-Large_Excel_File.xlsx, sheet 6

View BVdb publication page

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Germline mutations in candidate predisposition genes in individuals with cutaneous melanoma and at least two independent additional primary cancers.

Plos One

Pritchard, Antonia L AL; Johansson, Peter A PA; Nathan, Vaishnavi V; Howlie, Madeleine M; Symmons, Judith J; Palmer, Jane M JM; Hayward, Nicholas K NK

Publication Date: 2018

Variant appearance in text: rs34870424

PubMed Link: 29641532

Variant Present in the following documents:

• pone.0194098.s003.xlsx, sheet 2

View BVdb publication page

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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: TSC2: 3422C>T; Ala1141Val

PubMed Link: 28569743

Variant Present in the following documents:

• gim201760x7.xlsx, sheet 2

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The impact of tumor profiling approaches and genomic data strategies for cancer precision medicine.

Genome Medicine

Garofalo, Andrea A; Sholl, Lynette L; Reardon, Brendan B; Taylor-Weiner, Amaro A; Amin-Mansour, Ali A; Miao, Diana D; Liu, David D; Oliver, Nelly N; MacConaill, Laura L; Ducar, Matthew M; Rojas-Rudilla, Vanesa V; Giannakis, Marios M; Ghazani, Arezou A; Gray, Stacy S; Janne, Pasi P; Garber, Judy J; Joffe, Steve S; Lindeman, Neal N; Wagle, Nikhil N; Garraway, Levi A LA; Van Allen, Eliezer M EM

Publication Date: 2016-07-26

Variant appearance in text: TSC2: 3422C>T; A1141V; rs34870424

PubMed Link: 27460824

Variant Present in the following documents:

• 13073_2016_333_MOESM5_ESM.xlsx, sheet 1

View BVdb publication page

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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: TSC2: A1141V; rs34870424

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

View BVdb publication page

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Gene mutations in primary tumors and corresponding patient-derived xenografts derived from non-small cell lung cancer.

Cancer Letters

Hao, Chuncheng C; Wang, Li L; Peng, Shaohua S; Cao, Mengru M; Li, Hongyu H; Hu, Jing J; Huang, Xiao X; Liu, Wei W; Zhang, Hui H; Wu, Shuhong S; Pataer, Apar A; Heymach, John V JV; Eterovic, Agda Karina AK; Zhang, Qingxiu Q; Shaw, Kenna R KR; Chen, Ken K; Futreal, Andrew A; Wang, Michael M; Hofstetter, Wayne W; Mehran, Reza R; Rice, David D; Roth, Jack A JA; Sepesi, Boris B; Swisher, Stephen G SG; Vaporciyan, Ara A; Walsh, Garrett L GL; Johnson, Faye M FM; Fang, Bingliang B

Publication Date: 2015-02-01

Variant appearance in text: TSC2: A1141V

PubMed Link: 25444907

Variant Present in the following documents:

• Main text

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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: TSC2: A1141V; rs34870424

PubMed Link: 24728327

Variant Present in the following documents:

• pone.0094554.s002.xlsx, sheet 1

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Lack of association of rare functional variants in TSC1/TSC2 genes with autism spectrum disorder.

Molecular Autism

Bahl, Samira S; Chiang, Colby C; Beauchamp, Roberta L RL; Neale, Benjamin M BM; Daly, Mark J MJ; Gusella, James F JF; Talkowski, Michael E ME; Ramesh, Vijaya V

Publication Date: 2013-03-20

Variant appearance in text: TSC2: A1141V

PubMed Link: 23514105

Variant Present in the following documents:

• Main text
• 2040-2392-4-5.pdf
• 2040-2392-4-5-S5.xls, sheet 1

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DAXX/ATRX, MEN1, and mTOR pathway genes are frequently altered in pancreatic neuroendocrine tumors.

Science (New York, N.Y.)

Jiao, Yuchen Y; Shi, Chanjuan C; Edil, Barish H BH; de Wilde, Roeland F RF; Klimstra, David S DS; Maitra, Anirban A; Schulick, Richard D RD; Tang, Laura H LH; Wolfgang, Christopher L CL; Choti, Michael A MA; Velculescu, Victor E VE; Diaz, Luis A LA; Vogelstein, Bert B; Kinzler, Kenneth W KW; Hruban, Ralph H RH; Papadopoulos, Nickolas N

Publication Date: 2011-03-04

Variant appearance in text: TSC2: 3422C>T; A1141V

PubMed Link: 21252315

Variant Present in the following documents:

• Main text

View BVdb publication page

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