Tom 10, Nr 5 (2024)
Wytyczne / stanowisko ekspertów
Opublikowany online: 2024-05-06
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Eksport do Mediów Społecznościowych

Eksport do Mediów Społecznościowych

Stanowisko ekspertów dotyczące diagnostyki i leczenia olaparybem nowotworów BRCA-zależnych

Artur Kowalik12, Anita Chudecka-Głaz3, Joanna Kufel-Grabowska4, Iwona Skoneczna5, Tomasz Kubiatowski56
Onkol Prakt Klin Edu 2024;10(5):322-339.

Streszczenie

Produkty białkowe genów BRCA1 i BRCA2 odgrywają kluczową rolę w procesach naprawy DNA, realizowanych na drodze rekombinacji homologicznej. Utrzymanie prawidłowej struktury dwuniciowego DNA jest kluczowe dla stabilności genomu i zapobiegania procesom transformacji nowotworowej, w tym niekontrolowanej proliferacji komórek nowotworowych. Ponadto białko BRCA1 odgrywa ważną rolę w regulacji cyklu komórkowego i ekspresji genów, w tym tych odpowiedzialnych za poszczególne fazy cyklu komórkowego, oraz remodelowaniu chromatyny. Białko BRCA2 uczestniczy natomiast w modulowaniu odpowiedzi immunologicznej, włączając tę indukowaną obecnością antygenów nowotworowych. Mutacje germinalne lub somatyczne w genach BRCA1 i BRCA2 występują w wielu nowotworach, między innymi u chorych ze zdiagnozowanym rakiem piersi, jajnika, prostaty czy trzustki. Ich wykrycie jest ważnym czynnikiem prognostycznym odpowiedzi na chemioterapię opartą na pochodnych platyny lub inhibitorach polimerazy poli-ADP rybozy (PARP). W niniejszym artykule omówiono najważniejsze aspekty diagnostyki molekularnej oraz wskazania do stosowania olaparybu w leczeniu chorych na raka piersi, jajnika, prostaty czy trzustki. 

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