Liyini i-BRCA Gene Test? Inhloso, Amazinga/Inqubo & Umphumela

I-BRCA gene test iyisivivinyo segazi esihlola izinguquko kumajini akho e-BRCA1 kanye ne-BRCA2. Lawa majini ngokuvamile akusiza ukuthi uzivikele emithanjeni yamabele kanye nezindlala zamaqanda ngokulungisa i-DNA elimele emangqamuzaneni akho.

Uma lawa majini enezinguquko eziyingozi (ezibizwa ngokuthi ukuguqulwa), awukwazi ukwenza umsebenzi wawo wokuvikela ngendlela efanele. Lokhu kusho ukuthi ingozi yakho yokuthuthukisa imithombo ethile yomdlavuza iba phezulu kunamanye. Lolu vivinyo lukusiza kanye nodokotela wakho ukuthi uqonde ingozi yakho yomdlavuza siqu ukuze ukwazi ukwenza izinqumo ezinolwazi ngempilo yakho.

Liyini ukuhlolwa komjini we-BRCA?

Ukuhlolwa komjini we-BRCA kubheka izinguquko ezithile kumajini amabili abalulekile abizwa ngokuthi i-BRCA1 kanye ne-BRCA2. Cabanga ngala majini njengabasebenzi bakho bomzimba abalungisa i-DNA elimele.

Wonke umuntu unawo la majini, futhi asebenza ubusuku nemini ukulungisa izinkinga ezincane ze-DNA ezenzeka ngokwemvelo emangqamuzaneni akho. Uma esebenza ngendlela efanele, anciphisa kakhulu ingozi yakho yomdlavuza. Kodwa-ke, uma lawa majini enokuguqulwa okuyingozi, awukwazi ukwenza imisebenzi yawo yokuvikela ngempumelelo.

Lolu vivinyo luhlanganisa ukuthatha isampula elincane legazi ezingalweni zakho. Kwezinye izimo, udokotela wakho angase aqoqe amathe esikhundleni salokho. Isampula liya elabhorethri ekhethekile lapho ososayensi behlola ukulandelana kwakho kwe-DNA ukuze bafune izinguquko eziyingozi ezaziwayo.

Kungani kwenziwa ukuhlolwa komjini we-BRCA?

Ukuhlolwa kwe-BRCA kusiza ukukhomba abantu abazuze ifa eliphezulu lokuthuthukisa umdlavuza wamabele, wezindlala zamaqanda, kanye neminye imithombo eminingi yomdlavuza. Udokotela wakho angase ancome lolu vivinyo uma umdlavuza ukhona emndenini wakho noma uma unezici ezithile eziyingozi zomuntu siqu.

Ulwazi oluvela kulolu vivinyo lungaqondisa izinqumo ezibalulekile zempilo. Uma uhlolwa ukuthi unokuguqulwa okuyingozi, wena nethimba lakho lezempilo ningakha uhlelo olwenzelwe wena lokuvimbela umdlavuza nokutholwa kwasekuqaleni. Lokhu kungase kuhlanganise ukuhlolwa okuvamile, imithi yokuvimbela, noma ngisho nokuhlinzwa kokuvimbela.

Ukwenza izivivinyo kungahlinzeka ngolwazi olubalulekile emndenini wakho. Njengoba lezi zinguquko zizuzwa ngofuzo, imiphumela yakho ingase iqhubekisele izihlobo ukuthi nazo zicabange ukwenza izivivinyo. Le ndlela yomndeni wonke ingasiza ekuvikeleni izizukulwane eziningi.

Yini inqubo yokuhlola ngofuzo lwe-BRCA?

Inqubo yokuhlola ngofuzo lwe-BRCA iqondile futhi ngokuvamile ithatha imizuzu embalwa nje. Umhlinzeki wakho wezempilo uzodonsa inani elincane legazi emthanjeni engalweni yakho, okufana nomsebenzi wegazi ojwayelekile.

Ngaphambi kokuhlolwa, uzohlangana nomeluleki wezofuzo ozobukeza umlando wakho womndeni futhi achaze ukuthi imiphumela ingasho ukuthini. Lesi sikhathi sokwelulekwa sibalulekile ngoba sikusiza ukuthi uqonde imiphumela yokuhlolwa futhi sikulungiselele imiphumela ehlukene engenzeka.

Nakhu ongakulindela ngesikhathi senqubo yokuhlolwa:

1. Iseshini yokwelulekwa ngezofuzo ngaphambi kokuhlolwa ukuze kuxoxwe ngomlando wakho womndeni nezici eziyingozi
2. Ukudonswa kwegazi noma ukuqoqwa kwamathe endaweni yezokwelapha
3. Ukuhlaziywa kwelabhorethri kwe-DNA yakho, okuthatha amasonto angu-2-4
4. Ukuxoxwa kwemiphumela nomeluleki wakho wezofuzo kanye nomhlinzeki wezempilo
5. Ukwelulekwa ngemva kokuhlolwa ukuze kuchazwe imiphumela futhi kuxoxwe ngezinyathelo ezilandelayo

Yonke inqubo igcizelela ukusekela nemfundo. Ithimba lakho lezempilo lifuna ukuqinisekisa ukuthi uzizwa unolwazi futhi ukhululekile ngesikhathi sohambo lwakho lokuhlolwa.

Ungalungela kanjani ukuhlolwa kwakho ngofuzo lwe-BRCA?

Ukulungiselela ukuhlolwa ngofuzo lwe-BRCA kuhilela ukuqoqa ulwazi ngomlando wezempilo womndeni wakho kunokulungiselela ngokomzimba. Akudingeki ukuthi uzile noma ugweme noma yikuphi ukudla noma imithi ngaphambi kokuhlolwa.

Ukulungiselela okubaluleke kakhulu ukuqoqa imininingwane enemininingwane mayelana nokuxilongwa komdlavuza emndenini wakho. Lokhu kuhlanganisa izinhlangothi zombili zomuthi wakho womndeni, ubuyele emuva okungenani ezizukulwaneni ezintathu uma kungenzeka. Umeluleki wakho wezofuzo uzosebenzisa lolu lwazi ukuhlola ukuthi ukuhlolwa kufanele yini kuwe.

Nansi imininingwane okufanele uyibuthe ngaphambi kokuqokwa kwakho:

• Izinhlobo zomdlavuza ezitholwe emndenini
• Iminyaka lapho amalungu omndeni atholwa ngayo umdlavuza
• Noma ngabe yimaphi amalungu omndeni aye ahlolwa ngofuzo
• Ulwazi mayelana nezihlobo ezivela ezinhlangothini zikanina noyihlo
• Noma yiziphi izinguquko zofuzo ezaziwayo emndenini wakho

Cabangela ukuletha ilungu lomndeni elithembekile noma umngani ekuqokweni kwakho kokwelulekwa. Ukuba nokusekelwa ngokomzwelo kungakusiza ukuthi ucubungule imininingwane futhi wenze izinqumo ezizwakala zilungile kuwe.

Ungawafunda kanjani imiphumela yakho yokuhlolwa kwe-gene ye-BRCA?

Imiphumela yokuhlolwa kwe-gene ye-BRCA ingena ezigabeni ezintathu eziyinhloko: ezinhle, ezingezinhle, noma ukuhluka okungaqinisekile. Umeluleki wakho wezofuzo uzokuchazela kahle ukuthi imiphumela yakho ethile isho ukuthini ngempilo yakho.

Umphumela omuhle usho ukuthi unoshintsho oluyingozi ku-BRCA1 noma i-BRCA2. Lokhu kwandisa kakhulu ingozi yakho yokuthuthukisa umdlavuza webele, we-ovari, neminye imidlavuza eminingi phakathi nokuphila kwakho. Kodwa-ke, ukuba nokuguquka akukuqinisekisi ukuthi uzothuthukisa umdlavuza.

Umphumela ongemuhle ngokuvamile usho ukuthi akukho ukuguquka okuyingozi kwe-BRCA okutholakele. Uma unomlando oqinile womdlavuza emndenini, lokhu kungasho ukuthi ingozi yomdlavuza emndenini wakho ivela kwezinye izici zofuzo noma izimbangela zemvelo ezingahlobene namajini e-BRCA.

Ukuhluka okungaqinisekile kusho ukuthi ukuhlolwa kuthole ushintsho lofuzo, kodwa ososayensi abaqinisekile ukuthi luyayandisa yini ingozi yomdlavuza. Lo mphumela udinga ukuqapha ngokucophelela njengoba ucwaningo olwengeziwe lutholakala ukuze kuqiniswe ukubaluleka kokuhluka.

Yini engumphumela omuhle kakhulu wokuhlolwa kwe-gene ye-BRCA?

Umphumela omuhle kakhulu wokuhlolwa kwe-gene ye-BRCA ungemuhle ngempela, okusho ukuthi akukho ukuguquka okuyingozi okutholakele futhi umndeni wakho awunawo umlando wemidlavuza ehlobene ne-BRCA. Lo mphumela usikisela ukuthi ingozi yakho yomdlavuza ifana nabantu abaningi.

Noma kunjalo, yonke imiphumela inikeza ulwazi olubalulekile olungaqondisa izinqumo zakho zokunakekelwa kwezempilo. Ngisho nomphumela omuhle, ngenkathi ukhathaza, ukunika amandla ngolwazi lokuthatha izinyathelo eziqhubekayo zempilo yakho. Abantu abaningi abanezinguquko ze-BRCA abalokothi bathuthukise umdlavuza, ikakhulukazi uma belandela izindlela zokuhlola nokuvimbela ezinconyiwe.

Okubaluleke kakhulu ukuthi usebenzisa kanjani imiphumela yakho ukwenza izinqumo ezinolwazi mayelana nempilo yakho. Noma ngabe muhle noma mubi, imiphumela yakho iba yithuluzi lokudala uhlelo lokunakekelwa kwezempilo olwenzelwe wena olungena esimweni sakho esithile nezintandokazi zakho.

Ziyini izici eziyingozi zokuguqulwa kofuzo lwe-BRCA?

Ushintsho lofuzo lwe-BRCA yizimo ezizuzwe ngofuzo, ngakho-ke isici sakho esiyinhloko esiyingozi ukuba nomlando womndeni walezi zinguquko. Uzuzwa ikhophi elilodwa leli naleli fuzo le-BRCA kumzali ngamunye, futhi ukuguqulwa kunoma iyiphi ikhophi kungakhuphula ingozi yakho yomdlavuza.

Ezinye izizinda zobuhlanga zinamazinga aphezulu okuguqulwa kwe-BRCA. Abantu abavela e-Ashkenazi Jewish banamathuba angaba ngu-1 kwangu-40 okuthwala ukuguqulwa kwe-BRCA, uma kuqhathaniswa no-1 kwangu-500 emphakathini jikelele. Lokhu kwanda kwemvamisa kungenxa yemiphumela yabasunguli kulaba bantu.

Amaphethini amaningi omlando womndeni asikisela ukwanda kwethuba lokuguqulwa kwe-BRCA:

• Amalungu omndeni amaningi anomdlavuza webele noma we-ovari
• Umdlavuza webele otholakale ngaphambi kweminyaka engama-50
• Umdlavuza we-ovari nganoma yisiphi isikhathi
• Umdlavuza webele wesilisa
• Umdlavuza webele o-triple-negative
• Umdlavuza webele kuwo womabili amabele
• Umdlavuza webele kanye ne-ovari emuntu ofanayo

Ukuba nalezi zici eziyingozi akusho ukuthi ngokuqinisekile unokuguqulwa kwe-BRCA. Abantu abaningi abanomlando womndeni oqinile bahlolwa bengatholakali, kanti abanye abanomlando womndeni olinganiselwe bahlolwa batholakala.

Ziyini izinkinga ezingaba khona zokuguqulwa kofuzo lwe-BRCA?

Ushintsho lwezakhi zofuzo ze-BRCA lukhulisa kakhulu ingozi yakho yokuthuthukisa izinhlobo eziningana zomdlavuza, lapho umdlavuza webele nowama-ovari kuyizona ezivame kakhulu. Ingozi eqondile iyahluka ngokuya ngokuthi yiliphi ilungu lomzimba elithintekile kanye nezinye izinto zomuntu siqu.

Abesifazane abane-BRCA1 mutations banengozi yokuphila engaba ngu-55-72% yomdlavuza webele kanye nengozi engu-39-44% yomdlavuza wama-ovari. Labo abane-BRCA2 mutations babhekene nengozi engaba ngu-45-69% yomdlavuza webele kanye nengozi engu-11-17% yomdlavuza wama-ovari. Lezi zinombolo ziphakeme kakhulu kunezingozi zomphakathi jikelele.

Ngaphandle komdlavuza webele nowama-ovari, izinguquko ze-BRCA zingakhuphula ingozi yeminye imidlavuza:

• Umdlavuza wamanyikwe (ikakhulukazi ngoshintsho lwe-BRCA2)
• Umdlavuza wendlala yesinye emadodeni
• Umdlavuza webele wesilisa
• I-Melanoma
• Umdlavuza wamashubhu e-Fallopian
• Umdlavuza wokuqala we-peritoneal

Le midlavuza ehlobene ne-BRCA mutations ivame ukwenzeka eminyakeni emincane kunokujwayelekile. Bangase futhi babe nolaka olwengeziwe noma babe nezici ezihlukile kunezifo zomdlavuza ezithuthuka kubantu abangenazo lezi zinguquko.

Kufanele ngibone nini udokotela ukuze ngihlolwe izakhi zofuzo ze-BRCA?

Kufanele ucabangele ukuxoxa ngokuhlolwa kwezakhi zofuzo ze-BRCA nodokotela wakho uma unomlando womuntu siqu noma womndeni okhomba ingozi eyengeziwe yomdlavuza. Isinqumo sokuhlola ngesakho futhi sincike ezintweni ezihlukahlukene okuhlanganisa umlando wakho womndeni, iminyaka, nezintandokazi zakho.

Udokotela wakho angase ancome ukwelulekwa ngezifo zofuzo uma unezici eziyingozi ezithile. Lokhu akusho ukuthi kufanele uhlolwe, kodwa kukusiza ukuthi uqonde ukuthi ukuhlolwa kungaba yinzuzo kuwe nomndeni wakho.

Cabangela ukuhlela ukubonisana uma unanoma yiziphi lezi zimo:

• Izihlobo eziningi ezinomdlavuza webele noma wama-ovari
• Umdlavuza otholakale eneminyaka emincane kakhulu emndenini wakho
• Ukwaziwa kwe-BRCA mutation emndenini wakho
• Izihlobo zesilisa ezinomdlavuza webele
• Izihlobo ezinomdlavuza webele nowama-ovari
• Umlando wobukhokho bamaJuda ase-Ashkenazi nanoma yimuphi umlando womndeni womdlavuza webele noma wama-ovari

Noma ngabe awuhlangabezani nemibandela ejwayelekile yokuhlolwa, ukuxoxa ngezinkathazo zakho nomhlinzeki wezempilo kungakusiza ukuthi uqonde ubungozi bakho kanye nezinketho zokuhlola.

Imibuzo evame ukubuzwa mayelana nokuhlolwa komgene we-BRCA

Q.1 Ingabe ukuhlolwa komgene we-BRCA kulungile ekuvikeleni umdlavuza?

Ukuhlolwa komgene we-BRCA ngokwako akuvimbeli umdlavuza, kodwa kunikeza imininingwane ebalulekile engaholela ezinqubweni zokuvimbela umdlavuza. Lolu vivinyo luthola ukuthi ngabe unokuguqulwa kofuzo okwandisa kakhulu ubungozi bakho bomdlavuza.

Ngalolu lwazi, wena nethimba lakho lezempilo ningathuthukisa uhlelo lokuvimbela olwenzelwe wena. Lokhu kungabandakanya ukuhlolwa okuthuthukisiwe nge-MRI ne-mammography, imithi yokuvimbela, noma ukuhlinzwa okunciphisa ubungozi. Ucwaningo lubonisa ukuthi lezi zindlela zinganciphisa kakhulu ubungozi bomdlavuza kubantu abane-BRCA mutations.

Q.2 Ingabe ukuba ne-BRCA mutation kusho ukuthi ngizothola umdlavuza nakanjani?

Cha, ukuba ne-BRCA mutation akuqinisekisi ukuthi uzothola umdlavuza. Ngenkathi lezi zinguquko zikhuphula kakhulu ubungozi bakho bomdlavuza, abantu abaningi abane-BRCA mutations abatholi umdlavuza ngesikhathi sokuphila kwabo.

Amaphesenti owaziyo mayelana nobungozi bomdlavuza obuhlobene ne-BRCA amelela izilinganiso kuzo zonke izinhlobo zabantu. Ubungozi bakho ngamunye buxhomeke ezintweni eziningi ezihlanganisa ukuguqulwa kwakho okuthile, umlando womndeni, izinqumo zokuphila, nezinye izici zofuzo. Yingakho ukwelulekwa komuntu siqu kubaluleke kangaka.

Q.3 Ingabe amadoda angazuza ekuhlolweni komgene we-BRCA?

Yebo, amadoda angazuza ngempela ekuhlolweni kwe-BRCA gene. Ngenkathi amadoda enamazinga aphansi omdlavuza wamabele kunabesifazane, ukuguqulwa kwe-BRCA kusazokwandisa ingozi yawo yomdlavuza wamabele, wendlala yesinye, kanye nowendlala yamanyikwe.

Amadoda anokuguqulwa kwe-BRCA nawo adlulisela la majini ezinganeni zawo. Indoda enokuguqulwa kwe-BRCA inethuba elingama-50% lokulidlulisela enganeni ngayinye, kungakhathaliseki ubulili bengane. Ukuhlolwa kungahlinzeka ngolwazi olubalulekile lokuhlela umndeni nezinqumo zokuhlola.

Q.4 Ukunemba kangakanani ukuhlolwa kwe-BRCA gene?

Ukuhlolwa kwe-BRCA gene kunembile kakhulu uma kwenziwa ngamalabhorethri aqinisekisiwe. Zibona ngendlela efanele ukuguqulwa okuyingozi ngaphezu kwama-99% esikhathi uma kufunwa ukuguqulwa okwaziwayo.

Kodwa-ke, ukuhlolwa kubheka kuphela ukuguqulwa ososayensi asebevele bakuchazile njengokuyingozi. Kungase kube nokuguqulwa okungavamile noma okungaziwa ukuhlolwa kwamanje okungakutholi. Yingakho umphumela ongemuhle ungawuqedi ngokuphelele umkhuba okhulayo womdlavuza, ikakhulukazi uma unomlando womndeni oqinile.

Q.5 Ingabe umshwalense wami uzosibekela ukuhlolwa kwe-BRCA gene?

Izinhlelo eziningi zomshwalense zihlanganisa ukuhlolwa kwe-BRCA gene uma uhlangabezana nemibandela ethile yezokwelapha. Le mibandela ngokuvamile ihlanganisa ukuba nomlando womuntu siqu noma womndeni okhomba ingozi eyengeziwe yokuthwala ukuguqulwa kwe-BRCA.

Umeluleki wakho wezakhi zofuzo angasiza ekunqumeni ukuthi uyahlangabezana yini nemibandela yokuhlinzekwa futhi asize ngemvume yangaphambi kokugunyazwa uma kudingeka. Ezinye izinkampani zokuhlola nazo zinikeza izinhlelo zosizo lwezezimali kubantu abangenayo inshwalense noma kulabo ababhekene nobunzima bezezimali.