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Autor:
Fabio Corradini, Francesco Piva, Riccardo Cellerino, C. Brugiati, R. Bracci, Eva Galizia, Italo Bearzi, Alessandra Viel, L. Belvederesi, Diana Baralle, Francesca Bianchi, Michela Raponi, Cristian Loretelli
Publikováno v:
Familial Cancer
Single base substitutions can lead to missense mutations, silent mutations or intronic mutations, whose significance is uncertain. Aberrant splicing can occur due to mutations that disrupt or create canonical splice sites or splicing regulatory seque
Autor:
Jan Steffen, Michalina Dabrowska, Aneta Balabas, Magdalena Piatkowska, Dorota Nowakowska, Izabela Brozek, Anna Niwińska, Magdalena Ratajska, Jadwiga Rachtan, Janusz Limon, Anna Kluska
Publikováno v:
Familial Cancer
It is estimated that about 5–10% of ovarian and 2–5% of all breast cancer patients are carriers of a germline BRCA1 or BRCA2 gene mutation. Most families with detected BRCA1 or BRCA2 gene mutation are qualified for molecular testing on the basis
Publikováno v:
Familial Cancer
Triple-negative breast cancer (TNBC) is characterised by worse clinical outcome and poor prognosis. The alterations in the oncogenes and tumor suppressor genes as well as microsatellite instability (MSI) have been associated with breast cancer develo