NF1 c.4677G>A ;(p.W1559*)

Variant ID: 17-29588828-G-A

NM_001042492.2(NF1):c.4677G>A;(p.W1559*)

This variant was identified in 4 publications

View GRCh38 version.




Publications:


Sporadic and Lynch syndrome-associated mismatch repair-deficient brain tumors.

Laboratory Investigation; A Journal Of Technical Methods And Pathology
Kim, Hyunhee H; Lim, Ka Young KY; Park, Jin Woo JW; Kang, Jeongwan J; Won, Jae Kyung JK; Lee, Kwanghoon K; Shim, Yumi Y; Park, Chul-Kee CK; Kim, Seung-Ki SK; Choi, Seung-Hong SH; Kim, Tae Min TM; Yun, Hongseok H; Park, Sung-Hye SH
Publication Date: 2021-11-30

Variant appearance in text: NF1: 4677G>A; Trp1559*
PubMed Link: 34848827
Variant Present in the following documents:
  • Main text
  • 41374_2021_Article_694.pdf
View BVdb publication page



Sporadic and Lynch syndrome-associated mismatch repair-deficient brain tumors.

Laboratory Investigation; A Journal Of Technical Methods And Pathology
Kim, Hyunhee H; Lim, Ka Young KY; Park, Jin Woo JW; Kang, Jeongwan J; Won, Jae Kyung JK; Lee, Kwanghoon K; Shim, Yumi Y; Park, Chul-Kee CK; Kim, Seung-Ki SK; Choi, Seung-Hong SH; Kim, Tae Min TM; Yun, Hongseok H; Park, Sung-Hye SH
Publication Date: 2022-02

Variant appearance in text: NF1: 4677G>A; Trp1559*
PubMed Link: 34848827
Variant Present in the following documents:
  • Main text
  • 41374_2021_Article_694.pdf
View BVdb publication page



Assessment of Clinical Benefit of Integrative Genomic Profiling in Advanced Solid Tumors.

Jama Oncology
Cobain, Erin F EF; Wu, Yi-Mi YM; Vats, Pankaj P; Chugh, Rashmi R; Worden, Francis F; Smith, David C DC; Schuetze, Scott M SM; Zalupski, Mark M MM; Sahai, Vaibhav V; Alva, Ajjai A; Schott, Anne F AF; Caram, Megan E V MEV; Hayes, Daniel F DF; Stoffel, Elena M EM; Jacobs, Michelle F MF; Kumar-Sinha, Chandan C; Cao, Xuhong X; Wang, Rui R; Lucas, David D; Ning, Yu Y; Rabban, Erica E; Bell, Janice J; Camelo-Piragua, Sandra S; Udager, Aaron M AM; Cieslik, Marcin M; Lonigro, Robert J RJ; Kunju, Lakshmi P LP; Robinson, Dan R DR; Talpaz, Moshe M; Chinnaiyan, Arul M AM
Publication Date: 2021-04-01

Variant appearance in text: NF1: W1559*
PubMed Link: 33630025
Variant Present in the following documents:
  • jamaoncol-e207987-s004.xlsx, sheet 2
View BVdb publication page



Revisiting Epidermal Growth Factor Receptor (EGFR) Amplification as a Target for Anti-EGFR Therapy: Analysis of Cell-Free Circulating Tumor DNA in Patients With Advanced Malignancies.

Jco Precision Oncology
Kato, Shumei S; Okamura, Ryosuke R; Mareboina, Manvita M; Lee, Suzanna S; Goodman, Aaron A; Patel, Sandip P SP; Fanta, Paul T PT; Schwab, Richard B RB; Vu, Peter P; Raymond, Victoria M VM; Lanman, Richard B RB; Sicklick, Jason K JK; Lippman, Scott M SM; Kurzrock, Razelle R
Publication Date: 2019

Variant appearance in text: NF1: W1559*
PubMed Link: 31058253
Variant Present in the following documents:
  • PO.18.00180.pdf
View BVdb publication page



A targeted next-generation sequencing assay detects a high frequency of therapeutically targetable alterations in primary and metastatic breast cancers: implications for clinical practice.

The Oncologist
Vasan, Neil N; Yelensky, Roman R; Wang, Kai K; Moulder, Stacy S; Dzimitrowicz, Hannah H; Avritscher, Rony R; Wang, Baliang B; Wu, Yun Y; Cronin, Maureen T MT; Palmer, Gary G; Symmans, W Fraser WF; Miller, Vincent A VA; Stephens, Philip P; Pusztai, Lajos L
Publication Date: 2014-05

Variant appearance in text: NF1: W1559*
PubMed Link: 24710307
Variant Present in the following documents:
  • Main text
View BVdb publication page