BRCAplus

Georg Thieme Verlag KG

Mayelana nalolu hlelo lokusebenza

Uhlelo lokusebenza lwe-BRCAplus luhlose kodokotela abafuna ukuthola okuningi mayelana nokunengqondo, ukukhombisa kanye nokwenza umsebenzi wokuxilongwa kwe-BRCA. Umqondo kanye nokusebenza kohlelo lokusebenza kubhekela izidingo ezimbili ezibalulekile:

-> Ukufinyelela okusheshayo kwezihloko ezingokoqobo.
-> Ukuxhumana nezinsizakusebenza ezibalulekile zemfundo kanye nokuhlolwa.

Kulokhu, i-BRCAplus inikeza ulwazi oluhlelwe kahle olususelwa kubufakazi bamanje, izincomo, izinkombandlela nemithetho.

Ukubuka ukubuka okungcono uzothola:

- Izifingqo eziholayo.
- Ukugqamisa ukwamukelwa okungcono.
- Ihluzo eziningi ngomfanekiso.

Izidingo zokuxilongwa kwe-BRCA zokuhlelela ukwelashwa kuqhathaniswa nokuhlola ubungozi emndenini kanye nenqubo yokuhlaziywa kwezakhi zofuzo ezinikezwa ngesinyathelo ngesinyathelo kusukela ekukhetheni kwezinto eziyisampula kokutholakele. Lokhu kufaka imininingwane:

- ukuqala ukuxilongwa kokuhlelela ukwelashwa,
- impahla eyisampula,
- Ukuhlaziywa kofuzo kusetshenziswa i-NGS,
- ye-biioinformatics kanye nokuhunyushwa kwedatha,
- ngezigaba zokuhluka kwe-BRCA,
- ekutholeni izakhi zofuzo,
- imfundo yezakhi zofuzo.


Izifo ezengeziwe zamathumbu zingabonakala ngezakhi zofuzo futhi ziphathwe ngendlela eqondiwe. Inani lezinhlobo ezithintekayo ezinomdlavuza lihlala likhula njalo. Izinhlobo ze-BRCA zibaluleke kakhulu ekuhleleni kokulashwa nge-PARP inhibitors (1-3)
Uhlelo lokusebenza lwazisa ngalo:

-> Yimiphi imisebenzi nezinhlaka ezinezinhlobo ze-BRCA1 / 2,
-> kwenzeka kanjani ukusweleka kokuphinda kwenziwe kabusha (i-HRD),
-> okuvela kuwo amaphuzu okuqala kokwelashwa kuwo.

Uma ungathanda ukuthola ukuthi izinhlobo ze-germ-line noma ezinye ze-BRCA eziguqulwe kanjani nokuthi zisebenza kanjani, chofoza ngqo kusihloko esihambelanayo.

Ukutholwa kokuhluka kwe-pathogenic kwe-BRCA1 / 2 kusunguliwe ukuze kuhlolwe ubungozi kanye nokuhlelela ukwelashwa. Kepha iyini i-phenotype ye-BRCAness? Uhlelo lokusebenza le-BRCAplus linikeza izimpendulo.
Lesinye isigaba sinikelwe inqubo yokusebenza kwe-PARP inhibition. Amagama agqamile: ubugebenga bokwenziwa kanye nesicupho sePARP.

Ukuhlela izihloko zokwelapha. Uhlelo lokusebenza liyachaza:

-> yiziphi izincomo zamanje ezitholakalayo
-> Izimo lapho ama-PARP inhibitors angasetshenziswa kuzinkomba ezifanele,
-> inikeza isifinyezo sezifundo nge-PARP inhibitor olaparib.




Okuqukethwe kwalolu hlelo lokusebenza kudalwe yi-AstraZeneca ne-MSD ngosizo lochwepheshe emikhakheni yabo.

iziqinisekiso
1. https://cancergenome.nih.gov
2. Isikhombisi-ndlela se-Interdisciplinary S3 sokutholwa kokuqala, ukuxilongwa, ukwelashwa kanye nokulandelwa kwenguqulo yomdlavuza webele 4.3 - _February 2020 AWMF rejista nenombolo: 032-045OL, kokugcina ukufinyelela ngo-15.5.2020
Iseluleko se-1.S3 sokuxilonga, ukwelashwa nokunakekelwa kokulimala kwama-ovarian tumor, inguqulo 3.0- Januwari 2019, inombolo yerejista ye-AWMF: 032 / 035OL, ukufinyelela kokugcina 15.5.2020