Publications:

---

Phase II Clinical Trial of Everolimus in a Pan-Cancer Cohort of Patients with mTOR Pathway Alterations.

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

Adib, Elio E; Klonowska, Katarzyna K; Giannikou, Krinio K; Do, Khanh T KT; Pruitt-Thompson, Solida S; Bhushan, Ketki K; Milstein, Matthew I MI; Hedglin, Jennifer J; Kargus, Katherine E KE; Sholl, Lynette M LM; Tsuji, Junko J; Hyman, David M DM; Sisk, Anne A; Shapiro, Geoffrey I GI; Vargas, Hebert A HA; Harding, James J JJ; Voss, Martin H MH; Iyer, Gopa G; Kwiatkowski, David J DJ

Publication Date: 2021-07-15

Variant appearance in text: TSC2: 3610+1G>A

PubMed Link: 33727259

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Germline mutation of TSC1 or TSC2 gene in Chinese patients with bilateral renal angiomyolipomas and mutation spectrum of Chinese TSC patients.

Aging

Jiangyi, Wang W; Gang, Guo G; Guohai, Shi S; Dingwei, Ye Y

Publication Date: 2020-01-12

Variant appearance in text: TSC2: 3610+1G>A

PubMed Link: 31927531

Variant Present in the following documents:

• Main text
• aging-12-102654-s001..xlsx, sheet 1
• aging-12-102654.pdf

View BVdb publication page

---

A comprehensive assessment of Next-Generation Sequencing variants validation using a secondary technology.

Molecular Genetics & Genomic Medicine

Zheng, Jianchao J; Zhang, Hongyun H; Banerjee, Santasree S; Li, Yun Y; Zhou, Junyu J; Yang, Qian Q; Tan, Xuemei X; Han, Peng P; Fu, Qinmei Q; Cui, Xiaoli X; Yuan, Yuying Y; Zhang, Meiyan M; Shen, Ruiqin R; Song, Haifeng H; Zhang, Xiuqing X; Zhao, Lijian L; Peng, Zhiyu Z; Wang, Wei W; Yin, Ye Y

Publication Date: 2019-07

Variant appearance in text: TSC2: 3610+1G>A

PubMed Link: 31165590

Variant Present in the following documents:

• MGG3-7-e00748-s004.xlsx, sheet 1

View BVdb publication page

---

Pan-urologic cancer genomic subtypes that transcend tissue of origin.

Nature Communications

Chen, Fengju F; Zhang, Yiqun Y; Bossé, Dominick D; Lalani, Aly-Khan A AA; Hakimi, A Ari AA; Hsieh, James J JJ; Choueiri, Toni K TK; Gibbons, Don L DL; Ittmann, Michael M; Creighton, Chad J CJ

Publication Date: 2017-08-04

Variant appearance in text: rs45517299

PubMed Link: 28775315

Variant Present in the following documents:

• 41467_2017_289_MOESM7_ESM.xlsx, sheet 1

View BVdb publication page

---

Response to everolimus is seen in TSC-associated SEGAs and angiomyolipomas independent of mutation type and site in TSC1 and TSC2.

European Journal Of Human Genetics : Ejhg

Kwiatkowski, David J DJ; Palmer, Michael R MR; Jozwiak, Sergiusz S; Bissler, John J; Franz, David D; Segal, Scott S; Chen, David D; Sampson, Julian R JR

Publication Date: 2015-12

Variant appearance in text: TSC2: 3610+1G>A

PubMed Link: 25782670

Variant Present in the following documents:

• ejhg201547x1.xls, sheet 1

View BVdb publication page

---

Exonic mutations of TSC2/TSC1 are common but not seen in all sporadic pulmonary lymphangioleiomyomatosis.

American Journal Of Respiratory And Critical Care Medicine

Badri, Kameswara Rao KR; Gao, Ling L; Hyjek, Elizabeth E; Schuger, Noa N; Schuger, Lucia L; Qin, Wei W; Chekaluk, Yvonne Y; Kwiatkowski, David J DJ; Zhe, Xiaoning X

Publication Date: 2013-03-15

Variant appearance in text: TSC2: 3610+1G>A

PubMed Link: 23504366

Variant Present in the following documents:

• Main text

View BVdb publication page

---