Publications:

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: FH: S480*

PubMed Link: 33630025

Variant Present in the following documents:

• jamaoncol-e207987-s004.xlsx, sheet 2

View BVdb publication page

Targeted sequencing of FH-deficient uterine leiomyomas reveals biallelic inactivating somatic fumarase variants and allows characterization of missense variants.

Modern Pathology : An Official Journal Of The United States And Canadian Academy Of Pathology, Inc

Popp, Bernt B; Erber, Ramona R; Kraus, Cornelia C; Vasileiou, Georgia G; Hoyer, Juliane J; Burghaus, Stefanie S; Hartmann, Arndt A; Beckmann, Matthias W MW; Reis, André A; Agaimy, Abbas A

Publication Date: 2020-11

Variant appearance in text: FH: 1439C>G; Ser480Ter

PubMed Link: 32612247

Variant Present in the following documents:

• 41379_2020_596_MOESM2_ESM.xlsx, sheet 4

View BVdb publication page

MED12 mutations and FH inactivation are mutually exclusive in uterine leiomyomas.

British Journal Of Cancer

Kämpjärvi, Kati K; Mäkinen, Netta N; Mehine, Miika M; Välipakka, Salla S; Uimari, Outi O; Pitkänen, Esa E; Heinonen, Hanna-Riikka HR; Heikkinen, Tuomas T; Tolvanen, Jaana J; Ahtikoski, Anne A; Frizzell, Norma N; Sarvilinna, Nanna N; Sjöberg, Jari J; Bützow, Ralf R; Aaltonen, Lauri A LA; Vahteristo, Pia P

Publication Date: 2016-06-14

Variant appearance in text: FH: 1439C>G; Ser480X

PubMed Link: 27187686

Variant Present in the following documents:

• Main text
• bjc2016130x2.pdf
• bjc2016130a.pdf

View BVdb publication page