Okwangoku mhlawumbi uyazi ukuba ezinye izakhi zofuzo zibeka abantu kwisifo somhlaza. Ukuxhaswa kweendaba ezungeze i-Angelina Jolie's prophylactic mastectomies ngenxa ye "gene genetic breast" yandisa ulwazi loluntu. Izifundo ezintsha, kunye nezifundo ezingaphantsi zifumene ukuba utshintsho oluthile kwenye yeefesi ezifanayo eziphakamisa umngcipheko wesifo somhlaza wesifuba unokunyusa umngcipheko wokuba nomdlavuza wamaphaphu.
Ngaphambi kokuba uchaze ubani usemngciphekweni, kunjalo, kunceda ukuchaza ambalwa amagama.
Yintoni i-Genetic Predisposition?
Ukuzalwa ngokuguqulwa kwemfuza njenge-BRCA2 akuthethi ukuba uya kufumana umhlaza ngokuqinisekileyo. Esikhundleni salo, kuthetha ukuba unelungelo lokufumana ifa (i- genetic predisposition ) okanye ukwanda okwenziwe ukufumana isifo. Ngokuxhomekeke kwisiguqu esithile soguquko, umngcipheko wakho unokuhluka kakhulu. Ngokomzekelo, ukuguqulwa komzimba kunokuthetha ukuba amathuba akho okuphuhlisa isifo angama-80 ekhulwini okanye inokuba yincinci.
Uninzi lwexesha, imbangela yomhlaza ithathwa njengento ephezulu. Oku kuthetha ukuba amaninzi (amaninzi) amanqaku asebenza kunye ukuze abone okanye aphephe umhlaza. Kwimeko yomdlavuza wamaphaphu, oku kungathetha ukudibanisa ukutshaya, ukucoceka komoya, ukuhlaselwa kwe- radon , okanye ukunyuka kweengcipheko kwandisa umngcipheko wakho, ngelixa izinto ezifana nokutya okunempilo nokuzilolonga kunokunciphisa umngcipheko.
Yiyiphi i-BRCA2 ye-Gene Mutation kwaye njani ibangela umdlavuza?
Igama elisemthethweni lomdlavuza we-BRCA2 "ngumdlavuza wesibeleko 2, i-gene".
Ukutshintshwa kwe-gene kwafunyanwa kuqala kudibaniswa nomdlavuza webele, ingakumbi umdlavuza webele ekubesetyhini abaselula.
IGenesis isebenza ngokubhala iiprotheni emzimbeni, uhlobo olufana neprogram. Xa iigleji ze-BRCA zitshintshwa, iiprotheni ezingaqhelekanga zenziwe. Uhlobo lwe-BRCA2 luhlobo lwe- genetic suppressor gene .
Le khowudi yeejethi yeeprotheni ezinomsebenzi wokulungisa i-DNA ewonakalisiweyo (eyonakaliswe ngenxa yeengxube zendalo, i-radiation, okanye iimpazamo kwi-gene replication) okanye ukususa iseli ngokusebenzisa inkqubo yokufa kweeselingi ebizwa ngokuba yi-apoptosis. Ngaphandle kokulungiswa (okanye ukususwa kweeseli nge-apoptosis), umonakalo uvumelekile ukuba ungahambelwanga kwaye iiseli zomhlaza zingakhula.
Nangona ezinye izigulo zentsholongwane zichaphazela iprotheni enye, iikhowudi ze-BRCA2 zeprotheyini eyenza uhlobo olufana nomphathi. Inoxanduva lokuqondisa izenzo zeendiza eziliqela ezithatha iiprotheyini ezinomsebenzi wokulungisa i-DNA eyonakalisiweyo. Utshintsho lwe-BRCA2 alufani, kwaye abaphandi bafumene iinguqu ezingama-800 zenguqu.
Ziyintoni eziqhelekileyo ezi ngumoya?
Amaphesenti amabini abantu baseYurophu okhokho bathatha ukuguqulwa kwe-BRCA2. Olu tshintsho lwenzeka kwi-chromosome 13 kwaye lunokufumana ilifa elivela kumama okanye uyise. Wonke umntu uthwala ezimbini zala magesi, kwaye ukuguquka komnye kuphela kunikela ingozi.
Olu tshintsho lomzimba luzuze kwifa elikulo likhulu lithetha ukuba xa umzali ethwala imfuza kunye nokuguquka, abantwana babo banekhesenti elingama-50 lokuba netshintsho. Njengoko kuphawuliwe ngasentla, ukuguqulwa kwe-BRCA2 akubangelwa ngumhlaza, kodwa kwandisa ingozi.
I-BRCA2 ye-Gene Mutation ne-Cancer Cancer
Kukho umbutho phakathi kwe-BRCA2 ye-gene mutation kunye nomdlavuza wemiphunga. Kuphando olupapashwe ngo-2014, abaphandi bajonga abantu abangaphezu kwe-11 000 benomdlavuza wamaphaphu kwaye bafanisa nabantu abangaphezu kwe-15,000 abangenayo umdlavuza wamaphaphu. Bafumene ukuba ababhemayo abathwala ukuguquguquka kwe-BRCA2 bephantse bafumana kabini umdlavuza wamaphaphu njengababhema ngaphandle kokuguquka.
Kuthetha ukuthini oku kumanani? Abantu abavuthayo banamaxesha angaphezu kwama-40 okuvelisa umdlavuza wamaphaphu kunabo abangabambi. Ababhemayo abathwala ukuguqulwa kwamanzi amaxesha angama-80 amathuba okuphuhlisa eso sifo.
Ukuchaza ngale ndlela ngenye indlela: ngokuqhelekileyo, ama-13 ukuya kwe-15 ekhulwini abantu ababhemayo kulindeleke ukuba bavelise umdlavuza wamaphaphu, kodwa kubashushu ababenomdla kwi-BRCA2 ye-gene mutation, ingozi yabo yokuphila ingama-25 ekhulwini. Ngenxa yokuba bangabhema, umngcipheko wokuba nomdlavuza wamaphaphu kulabo abaneempembelelo kwi-BRCA2 ye-genetic mutation echazwe kwiphononongo ingaphantsi kweepesenti ezimbini.
I-BRCA2 iinguqu zentshintsho zentsholongwane zihambelana kakhulu kunye nomhlaza wesifo somhlaza wamaphaphu , uhlobo lomhlaza wesifo somhlaza wamangqamuzana.
Ezinye iiKhansela ezidibene ne-BRCA2 Utshintsho
Ezinye iindiza ezinomdlavuza zidibene ne-BRCA2. Ezi ziquka:
- Umhlaza wesifuba samabhinqa - Kwabesetyhini abane-BRCA2 ukuguquka komzimba, iipesenti ezingama-45 ziya kuvelisa umdlavuza webele xa uneminyaka engama-70
- Umhlaza wesifuba
- Umhlaza we-Ovarian - i-11 ukuya kwi-17 ekhulwini yabasetyhini abanolu tshintsho luya kuhlakulela umdlavuza we-ovari (ngokuqhelekileyo kuma-1.4 ekhulwini kwabasetyhini)
- Umhlaza wePancretic
- Umhlaza womhlaza we-Fallopian
- IMelanoma
- Umhlaza wePeritoneal
- Umhlaza weprostate
- Umhlaza weLaryngeal
Unokwazi Njani Ukuba Uthwala Utshintsho?
Ngeli xesha, abaninzi abantu abathwala ukuguquka kwe-BRCA2 abazi ngokupheleleyo. Ukuba nomlando weentsapho zomhlaza wesifuba, ingakumbi ukuba kwenzeke kumalungu amaninzi okanye esemncinci, kwandisa amathuba.
Utshintsho luye lwafunyanwa luqhelekileyo kumaqela athile aquka amaYuda aseAshkenazi kunye nabantu baseNorway, Dutch, nase-Icelandic.
Ngelixa elizayo
Kwixesha elizayo, iziyobisi zingase zifumaneke kubantu abanomdlavuza wemiphunga ekubanjeni oku kuguquka. Ngethuba bengakhange bahlolwe ngumhlaza wamaphaphu, imithi eyaziwa ngokuthi i- PARP inhibitors iye yaphumelela ngempumelelo kwizilingo zengqondo ezibandakanya abantu abanomdlavuza wesibeleko kunye nomhlaza wesibeleko kunye ne-BRCA2.
Thatha Amaphulo Ekhaya
- Kubalulekile ukuba ukhumbule ukuba ukulungelelaniswa akuthethi ukuba uya kufumana umhlaza. Ukugcina indlela yokuphila enempilo, ukutya ukutya kunye nokwenza umzimba kunokunciphisa ingozi yakho.
- Thatha imbali yolondolozo lweentsapho kwaye ukhuthaze amanye amalungu entsapho ukuba enze njalo. Oku kungabonakalisa ukuxhomekeka komhlaza kunye nezinye izimo ezifana nesifo senhliziyo. Ngokuxhomekeke kwimbali yakho yentsapho ugqirha unokukhetha ukukubeka esweni ngokufutshane okanye ekudala kwimimiselo. Gcina ukhumbule ukuba ezinye iimeko zinegama ezahlukileyo kwixesha elidlulileyo, umzekelo, "ukuhlahlela" ukuvuvukala okunxulumene nokuhluleka kwentliziyo.
- Ukuba utshaya, shiya, ingaba unayo okanye unayo i-BRCA2 ye-gene mutation.
- Kubantu abasengozini enkulu, bathethe nodokotela wakho malunga nokukhethwa komhlaza wamaphaphu .
> Imithombo
National Cancer Institute. I-BRCA1 ne-BRCA2: Ingozi yeCcercer and Testing Genetic. Updated 04/01/15.
IThala leSizwe leMicrothelo. I-Reference Reference Home. BRCA2. Epapashwe ngo-11/09/15.
Wang, Y. et al. Uhlobo oluthile lweziphumo ezinkulu ze-BRCA2 i-CHEK2 inokuchaphazela umngcipheko womhlaza wemiphunga. Nature Genetics . Ishicilelwe kwi-intanethi ngomhla ka-01 Juni 2014