APC c.4118del ;(p.P1373Lfs*42)

Variant ID: 5-112175407-AC-A

NM_000038.5(APC):c.4118del;(p.P1373Lfs*42)

This variant was identified in 4 publications

View GRCh38 version.




Publications:


Progressing Vulvar Melanoma Caused by Instability in cKIT Juxtamembrane Domain: A Case Report and Review of Literature.

Current Oncology (Toronto, Ont.)
Englert-Golon, Monika M; Budny, Bartłomiej B; Lewandowska, Małgorzata M; Burchardt, Bartosz B; Smolarek, Natalia N; Ziemnicka, Katarzyna K; Jagodziński, Paweł Piotr PP; Ruchała, Marek M; Grabowska, Marlena M; Sajdak, Stefan S
Publication Date: 2022-04-29

Variant appearance in text: APC: P1373Lfs*42
PubMed Link: 35621644
Variant Present in the following documents:
  • curroncol-29-00254.pdf
View BVdb publication page



Mutation profile and immunoscore signature in thymic carcinomas: An exploratory study and review of the literature.

Thoracic Cancer
Asselta, Rosanna R; Di Tommaso, Luca L; Perrino, Matteo M; Destro, Annarita A; Giordano, Laura L; Cardamone, Giulia G; Rubino, Luca L; Santoro, Armando A; Duga, Stefano S; Zucali, Paolo Andrea PA
Publication Date: 2021-05

Variant appearance in text: APC: 4118_4118delC
PubMed Link: 33704917
Variant Present in the following documents:
  • TCA-12-1271-s003.xls, sheet 1
View BVdb publication page



Medulloblastomas associated with an APC germline pathogenic variant share the good prognosis of CTNNB1-mutated medulloblastomas.

Neuro-Oncology
Surun, Aurore A; Varlet, Pascale P; Brugières, Laurence L; Lacour, Brigitte B; Faure-Conter, Cécile C; Leblond, Pierre P; Bertozzi-Salomon, Anne-Isabelle AI; Berger, Claire C; André, Nicolas N; Sariban, Eric E; Raimbault, Sandra S; Prieur, Fabienne F; Desseigne, Françoise F; Zattara, Hélène H; Guimbaud, Rosine R; Polivka, Marc M; Delisle, Marie-Bernadette MB; Vasiljevic, Alexandre A; Maurage, Claude-Alain CA; Figarella-Branger, Dominique D; Coulet, Florence F; Guerrini-Rousseau, Léa L; Alapetite, Claire C; Dufour, Christelle C; Colas, Chrystelle C; Doz, François F; Bourdeaut, Franck F
Publication Date: 2020-01-11

Variant appearance in text: APC: 4118delC; Pro1373Leufs*42
PubMed Link: 31504825
Variant Present in the following documents:
  • Main text
View BVdb publication page



Hotspot KRAS exon 2 mutations in CD166 positive colorectal cancer and colorectal adenoma cells.

Oncotarget
Wong, Hung Lai HL; Ng, Lawrence Po Wah LPW; Koh, Su Pin SP; Chan, Lawrence Wing Chi LWC; Wong, Evelyn Yin Kwan EYK; Xue, Vivian Weiwen VW; Tsang, Hin Fung Andy HFA; Chan, Amanda Kit Ching AKC; Chiu, Ka Yue KY; Cheuk, Wah W; Wong, Sze Chuen Cesar SCC
Publication Date: 2018-04-17

Variant appearance in text: APC: 4118_4118delC; P1373fs*42
PubMed Link: 29755662
Variant Present in the following documents:
  • Main text
  • oncotarget-09-20426.pdf
View BVdb publication page