Ngamanje mhlawumbe uyazi ukuthi ezinye izakhi zofuzo zenza abantu babe nomdlavuza. Ukusakazwa kwezindaba ezungeze izidalwa ze-prophylactic ze-Angelina Jolie ngenxa ye "isifo somdlavuza webele" kwandise ukuqwashisa umphakathi. Ucwaningo olusha nolwazi oluncane olusakaziwe luye lwathola ukuthi ukuguqulwa okuthile okwezinye izakhi ezifanayo eziphakamisa ingozi yomdlavuza webele kungabuye kwandisa ingozi yokuthuthukisa umdlavuza wamaphaphu.
Ngaphambi kokuchaza ukuthi ngubani osemngciphekweni, noma kunjalo, kusiza ukuchaza amagama ambalwa.
Kuyini Ukuguqulwa KwamaGenesis?
Ukuzalwa ngokuguqulwa kwezakhi zofuzo njenge-BRCA2 akusho ukuthi uzothola umdlavuza ngokuqinisekile. Esikhundleni salokho, kusho ukuthi une- susceptibility ezuze njengefa ( ukufakwa kwesimo sofuzo ) noma amathuba okuthola lesi sifo. Kuye ngokuthi ushintsho oluthile lwezakhi, ingozi yakho ingahluka kakhulu. Isibonelo, ukuguquguquka kungase kusho ukuthi amathuba akho okuthuthukisa isifo angamaphesenti angama-80 noma kungenzeka ukuthi amancane kakhulu.
Esikhathini esiningi, imbangela yomdlavuza ibhekwa njenge-multifactorial. Lokhu kusho ukuthi izici eziningi (eziningi) zisebenza ndawonye ukudala noma ukuvimbela umdlavuza. Endabeni yomdlavuza wamaphaphu, lokhu kungasho ukuhlanganiswa kokubhema, ukungcola komoya, ukuxubuliswa kwe-radon , noma ukukhula kwenyuka kwandisa ingozi yakho, kanti izici ezifana nokudla okunempilo nokuzivocavoca umzimba kunganciphisa ingozi.
Yini i-BRCA2 Gene Mutation futhi Yenza Kanjani Cancer?
Igama elisemthethweni wegciwane le-BRCA2 yi "isifo somdlavuza 2, isandulela" ekuqaleni.
Ukuguqulwa kwezakhi zofuzo kutholakala kuqala ukuthi kuhlotshaniswa nomdlavuza webele, ikakhulukazi umdlavuza webele kubantu besifazane abasebasha.
I-Genesini isebenza ngokufaka ikhodi yamaphrotheni emzimbeni, uhlobo olufana neprogram. Lapho izakhi zofuzo ze-BRCA zishintshwa, amaprotheni angavamile akhiwa. Ijethi ye-BRCA2 iyinhlobo yesifo segciwane eliyisifo sofuba .
Leli khodi yezinhlobo zama-protein okusebenza ngawo ukulungisa i-DNA ewonakele (eyonakaliswe ngenxa yezinto eziyingozi emvelweni, imisebe, noma amaphutha ekuphenduleni kwezakhi zofuzo) noma ukususa iseli ngenqubo yokufa kwe-cell ehlelwe ngokuthi i-apoptosis. Ngaphandle kwalokhu kulungiswa (noma ukususwa kweseli nge-apoptosis), umonakalo uvunyelwe ukuhamba ungahloliwe futhi amangqamuzana anomdlavuza angathuthuka.
Ngenkathi ezinye izakhi zofuzo zithinta iphrotheni eyodwa, amakhodi we-BRCA2 weprotheyini esebenza uhlobo olufana nomphathi. Kunesibopho sokuqondisa izenzo zezakhi zofuzo eziningana ezikhombise amaprotheni okusebenza kwawo ukulungisa i-DNA ewonakele. Ukuguqulwa kwe-BRCA2 akukonke okufanayo, futhi abacwaningi bathole izinhlobo ezingaphezu kwezingu-800 zenguquko.
Zivamile kangakanani lezi zinguquko?
Cishe amaphesenti amabili wabantu baseYurophu abathwele ukuguqulwa kwe-BRCA2. Lokhu kuguquka kwenzeka ku-chromosome 13 futhi kungathathwa njengefa noma kumama noma ubaba. Wonke umuntu uthwala ezimbili zalezi zakhi zofuzo, futhi ukuguquguquka komunye kuphela kubeka ingozi.
Lokhu kuguqulwa kwezakhi zofuzo kuzuzwe njengefa elihle kakhulu ekutheni i-autosomal pattern ethinta kakhulu ukuthi uma umzali ethwala isakhi nge-mutation, izingane zabo zinamathuba angu-50 okuba nezinguquko. Njengoba kuphawuliwe ngenhla, ukuguqulwa kwe-BRCA2 akubangelwa umdlavuza, kodwa kwandisa ingozi.
I-BRCA2 Gene Mutation ne-Cancer Cancer
Kukhona ubudlelwane phakathi kwe-BRCA2 ye-gene mutation kanye nomdlavuza wamaphaphu. Esicwaningweni esashicilelwe ngo-2014, abacwaningi babheka abantu abangaphezu kuka-11 000 abanomdlavuza wamaphaphu futhi bawaqhathanisa nabantu abangaphezu kuka-15 000 abangenayo umdlavuza wamaphaphu. Bathole ukuthi ababhemayo abathwala ukuguquguquka kwe-BRCA2 beba cishe kabili amathuba okuthola umdlavuza wamaphaphu njengabokubhema ngaphandle kokuguquka.
Kusho ukuthini lokhu ngezinombolo? Abantu ababhemayo banamathuba angama-40 okuthuthukisa umdlavuza wamaphaphu kunelabo abangabhemi. Ababhemayo abathwala ukuguqulwa kwezikhathi cishe bangama-80 amathuba okuthuthukisa lesi sifo.
Ukuchaza lokhu ngenye indlela: ngokuvamile, amaphesenti angu-13 kuya kwangu-15 abantu ababhemayo kulindeleke ukuba bathuthukise umdlavuza wamaphaphu, kodwa ababhemayo abanomthelela wokuguqulwa kwezakhi zofuzo ze-BRCA2, ingozi yabo yokuphila ingaba amaphesenti angu-25. Ngenxa yokuthi ababhemayo ababheki, ingozi yokuba nomdlavuza wamaphaphu kulabo abanomthelela we-BRCA2 wokuguquguquka kwezakhi zofuzo ezichazwe kulesi sifundo kungaphansi kwamaphesenti amabili.
I-BRCA2 ye-gene mutations isondelene kakhulu nomdlavuza we-cell wamaphaphu omnyama , uhlobo lomdlavuza ongasona omncane wamaphaphu.
Amanye amaKhansela ahlotshaniswa nezinguquko ze-BRCA2
Amanye amanyevuza ekhansela ahlotshaniswa nezinguquko ze-BRCA2. Lokhu kufaka:
- Umdlavuza webele wesifazane - Kwabesifazane abanokuguqulwa kwe-BRCA2, amaphesenti angu-45 azokwakha umdlavuza webele uma uneminyaka engu-70
- Umdlavuza webele wesilisa
- Umdlavuza we-Ovarian - amaphesenti angama-11 kuya ku-17 abesifazane abathintekayo kulokhu kuzothuthukisa umdlavuza we-ovarian (ngokuvamile amaphesenti angu-1.4 wabesifazane)
- Umdlavuza we-Pancreatic
- Umdlavuza webhubhu we-Fallopian
- I-Melanoma
- Umdlavuza wePeritoneal
- Umdlavuza we-prostate
- Umdlavuza weLaryngeal
Ungazi kanjani Uma Uthwala Ukushintshwa?
Ngesikhathi samanje, iningi labantu abathwala ukuguqulwa kwe-BRCA2 abazi ngokuphelele. Ukuba nomlando womndeni wesifo somdlavuza webele, ikakhulukazi uma kwenzeka emalungwini amaningana noma esemncane, kwandisa amathuba.
Ukuguqulwa kwatholakala ukuthi kuvame kakhulu kwezinye izizwe ezihlanganisa ama-Ashkenazi amaJuda nabantu baseNorway, Dutch, nase-Icelandic.
Ikusasa
Esikhathini esizayo, izidakamizwa zingase zitholakale kubantu abanomdlavuza wamaphaphu abamba lokhu kuguqulwa. Nakuba bengakaze bahlolwe ngomdlavuza wamaphaphu, imithi eyaziwa ngokuthi i- PARP inhibitors iye yaphumelela kakhulu ekuvivinyweni komtholampilo ehilela abantu abane-cancer yombele ne-ovarian umdlavuza nge-BRCA2.
Thatha amaphuzu asekhaya
- Kubalulekile ukukhumbula ukuthi ukufakwa kwesimo akusho ukuthi uzothola umdlavuza. Ukugcina impilo enempilo, ukudla okunempilo nokuzivocavoca kunganciphisa ingozi yakho.
- Thatha umlando wezokwelapha omuhle womndeni futhi ukhuthaze amanye amalungu omndeni ukuba enze kanjalo. Lokhu kungabonisa ukuthi kunesifo somdlavuza kanye nezinye izimo ezifana nesifo senhliziyo. Ngokuya ngomlando womndeni wakho udokotela wakho angakhetha ukukuqapha eduze noma eminyakeni yobudala yalezi zimo. Khumbula ukuthi ezinye izimo zazinamagama ahlukene esikhathini esidlule, isibonelo, "ukwehla" kokuvuvukala okuhlobene nokuhluleka kwenhliziyo.
- Uma ubhema, shiya, noma ungenawo yini ushintsho lwezakhi ze-BRCA2 noma cha.
- Kubantu abasengozini enkulu, khuluma nodokotela wakho mayelana nokukhetha ukuhlolwa komdlavuza wamaphaphu .
> Imithombo
I-National Cancer Institute. I-BRCA1 ne-BRCA2: Ingozi yeCanscer and Testing Genetics. Kubuyekezwe 04/01/15.
Ilabhulali Kazwelonke Yezokwelapha. I-Genetics Home Reference. I-BRCA2. Ishicilelwe 11/09/15.
Wang, Y. et al. Izinguquko eziningana zomthelela omkhulu BRCA2 i-CHEK2 ithinta ingozi yomdlavuza wamaphaphu. I-Nature Genetics . Ishicilelwe ku-inthanethi ngomhla ka-1 Juni 2014