A first report of a rare TP53 variant associated with Li-Fraumeni syndrome manifesting as invasive breast cancer and malignant solitary fibrous tumor

Autor: Fran Borovečki, Natalija Dedić Plavetić, Juraj Prejac, Kristina Gotovac Jercic

Publikováno v: World Journal of Surgical Oncology, Vol 19, Iss 1, Pp 1-6 (2021)
World Journal of Surgical Oncology

Background Li-Fraumeni is a rare autosomal dominant cancer predisposition syndrome. The basis is a germline mutation of TP53 gene which encodes tumor suppressor protein resulting in early onset of tumors, most often breast cancer, soft tissue sarcoma

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d3d21bc3627218f0a68a24c8d101cc8c
https://doi.org/10.1186/s12957-021-02370-8

ALPK1 hotspot mutation as a driver of human spiradenoma and spiradenocarcinoma

Autor: Zlatko Marušić, Sofia Y. Chen, Alena Pance, Nicolas De Saint Aubain, Boštjan Luzar, Marie S Abi Daoud, Arno Rütten, Francesca Butera, Sandra Louzada, Thomas Mentzel, Louise van der Weyden, Carla Daniela Robles-Espinoza, Paul W. Harms, Michiel P J van der Horst, Steven D. Billings, Jason L. Hornick, Chris Bakal, Thomas Brenn, Ingrid Ferreira, Jennifer S. Ko, James Hewinson, David J. Adams, Guia Cerretelli, Rajiv M. Patel, Mark J. Arends, Mamunur Rashid

Publikováno v: Nature communications, 10 (1
Nature Communications, Vol 10, Iss 1, Pp 1-10 (2019)
Rashid, M, van der Horst, M, Mentzel, T, Butera, F, Ferreira, I, Pance, A, Rütten, A, Luzar, B, Marusic, Z, de Saint Aubain, N, Ko, J S, Billings, S D, Chen, S, Abi-Daoud, M, Hewinson, J, Louzada, S, Harms, P W, Cerretelli, G, Robles-Espinoza, C D, Patel, R M, van der Weyden, L, Bakal, C, Hornick, J L, Arends, M J, Brenn, T & Adams, D J 2019, ' ALPK1 hotspot mutation as a driver of human spiradenoma and spiradenocarcinoma ', Nature Communications, vol. 10, 2213 . https://doi.org/10.1038/s41467-019-09979-0
Nature Communications

Spiradenoma and cylindroma are distinctive skin adnexal tumors with sweat gland differentiation and potential for malignant transformation and aggressive behaviour. We present the genomic analysis of 75 samples from 57 representative patients includi

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a7805e8b278a80914f13e1620a57749e
https://doi.org/10.1038/s41467-019-09979-0

Phenotype specific analyses reveal distinct regulatory mechanism for chronically activated p53

Autor: Kirschner, K., Samarajiwa, S. A., Cairns, J. M., Menon, S., Perez-Mancera, P. A., Tomimatsu, K., Bermejo-Rodriguez, C., Ito, Y., Chandra, T., Narita, M., Lyons, S. K., Lynch, A. G., Kimura, Hiroshi, Ohbayashi, T., Tavare, S.

Publikováno v: PLoS genetics. 11(No. 3)

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=jairo_______::f6e535a0db5b41353f67f0acce907319
http://t2r2.star.titech.ac.jp/cgi-bin/publicationinfo.cgi?q_publication_content_number=CTT100736784

Micronuclei to detect in vivo chemotherapy damage in a p53 mutated solid tumour

Autor: Patrick Browaeys, Xenofon Giannakopoulos, Catherine Bruyns, Dominique Waroquier, Laura Harsan, Bernard Robaye, Thierry Velu, Gregory Driessens

Publikováno v: British Journal of Cancer, 89 (4
British Journal of Cancer

Apoptosis induction and micronuclei formation were compared following cytotoxic treatments in two rat glioma differing in p53 integrity. In vitro, micronuclei emergence but not apoptosis was linked to the p53 mutated status. In vivo, micronuclei assa

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5732e7a44de8b48c8eba727d95d3bfad
http://olympias.lib.uoi.gr/jspui/handle/123456789/20037

Prognostic and predictive value of TP53mutations in node-positive breast cancer patients treated with anthracycline- or anthracycline/taxane-based adjuvant therapy: results from the BIG 02-98 phase III trial

Autor: Prudence A. Francis, Denis Larsimont, Magali Olivier, Marc Buyse, Evandro de Azambuja, Lynnette Fernandez-Cuesta, Martine Piccart-Gebhart, Patrizia Dell'Orto, M. Stella Dolci, Ke-seay Smoth, John Crown, Catherine Oakman, Pierre Hainaut, Priscila Falagan-Lotsch, Giuseppe Viale, Angelo Di Leo, E. Quinaux

Publikováno v: Breast cancer research, 14 (3
Breast Cancer Research : BCR

Pre-clinical data suggest p53-dependent anthracycline-induced apoptosis and p53-independent taxane activity. However, dedicated clinical research has not defined a predictive role for TP53 gene mutations. The aim of the current study was to retrospec

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9744f8e8aaf520718d3519a261e1272f
https://doi.org/10.1186/bcr3179