Publications:

A phase II study of everolimus in patients with advanced solid malignancies with TSC1, TSC2, NF1, NF2 or STK11 mutations.

Journal Of Thoracic Disease

Devarakonda, Siddhartha S; Pellini, Bruna B; Verghese, Luke L; Park, Haeseong H; Morgensztern, Daniel D; Govindan, Ramaswamy R; Suresh, Rama R; Oppelt, Peter P; Baggstrom, Maria Q MQ; Wu, Ningying N; Waqar, Saiama N SN

Publication Date: 2021-07

Variant appearance in text: NF1: 7253C>T

PubMed Link: 34422335

Variant Present in the following documents:

• Main text
• jtd-13-07-4054.pdf

View BVdb publication page

Germline pathogenic variants of 11 breast cancer genes in 7,051 Japanese patients and 11,241 controls.

Nature Communications

Momozawa, Yukihide Y; Iwasaki, Yusuke Y; Parsons, Michael T MT; Kamatani, Yoichiro Y; Takahashi, Atsushi A; Tamura, Chieko C; Katagiri, Toyomasa T; Yoshida, Teruhiko T; Nakamura, Seigo S; Sugano, Kokichi K; Miki, Yoshio Y; Hirata, Makoto M; Matsuda, Koichi K; Spurdle, Amanda B AB; Kubo, Michiaki M

Publication Date: 2018-10-04

Variant appearance in text: NF1: 7253C>T; Thr2418Ile; rs764022114

PubMed Link: 30287823

Variant Present in the following documents:

• 41467_2018_6581_MOESM4_ESM.xlsx, sheet 1

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Unexpected cancer-predisposition gene variants in Cowden syndrome and Bannayan-Riley-Ruvalcaba syndrome patients without underlying germline PTEN mutations.

Plos Genetics

Yehia, Lamis L; Ni, Ying Y; Sesock, Kaitlin K; Niazi, Farshad F; Fletcher, Benjamin B; Chen, Hannah Jin Lian HJL; LaFramboise, Thomas T; Eng, Charis C

Publication Date: 2018-04

Variant appearance in text: NF1: T2418I

PubMed Link: 29684080

Variant Present in the following documents:

• pgen.1007352.s008.xlsx, sheet 1

View BVdb publication page