Ngaba uyazi ngovavanyo lwe-BRCA? (Uvavanyo lwe-BRCA) Indlela yokuchonga umngcipheko womhlaza kwangethuba!

Mhlawumbi ukhe waliva igama elithi `BRCA` (BRCA) xa lithetha ngezinto ezifana nomhlaza webele, umhlaza wesibeleko. Mhlawumbi ugqirha wakho naye ukhe walikhankanya. Yintoni kanye kanye le `BRCA` gene? Yintoni esinokuyifunda ngokwenza olu `(uvavanyo lwe-BRCA)`? Namhlanje siza kuthetha ngazo zonke ezi zinto ngokulula, ngendlela onokuyiqonda. Njengokuthetha nomhlobo.

Yintoni i-BRCA? Kutheni ibalulekile kuthi?

Ngamafutshane, i-'BRCA1' kunye ne-'BRCA2' ziijini ezimbini ezikhethekileyo emzimbeni wethu. Zifana nabagcini ngaphakathi kwiiseli zethu. Umsebenzi wazo ophambili kukulungisa umonakalo kwi-'DNA' yethu kunye nokuthintela iiseli ukuba zingakhuli ngokukhawuleza kwaye zingalawuleki kwiindawo ezifana nebele kunye nama-ovari. Cinga ngezi jini njengenkqubo encinci "yokuqhekeza" emzimbeni wethu ethintela ukwakheka kweeseli zomhlaza. Yiyo loo nto sizibiza ngokuba yi-'(iijini zokunciphisa ithumba)'.

Nangona kunjalo, ngamanye amaxesha ezi gene zibalulekileyo ze-'BRCA' zinokuba notshintsho oluthile, okanye 'iinguqu' . Kulapho ke ingxaki iqala khona. Xa ezi gene zingasebenzi kakuhle, iiseli endizikhankanyileyo zikhula zingalawuleki. Emva koko umngcipheko wokufumana kungekuphela nje umhlaza webele, umhlaza wesibeleko, kodwa nezinye iintlobo ezininzi zomhlaza uyanda.

Into ebalulekileyo kukuba ezi nguqu ze-'BRCA' zezakhi zofuzo zidluliselwe kwizizukulwana ngezizukulwana. Oko kuthetha ukuba ungayifumana le nguqu kumama okanye kutata wakho. Kufana nelifa lentsapho. Senza uvavanyo lwe-genetic olubizwa ngokuba yi-'(BRCA testing)` ukuze sifumanise ukuba unazo na ezi nguqu ze-'BRCA`. Ngenxa yoku, kuthathwa isampuli yegazi elincinci kuwe kwaye livavanywe.

Ngubani ofanele enze uvavanyo lwe-BRCA? Ngaba wonke umntu uyalufuna?

Enyanisweni, olu tshintsho lwe-'BRCA' aluqhelekanga kangako. Umzekelo, malunga ne-0.2% yabantu baseMelika banale meko. Elo lipesenti elincinci kakhulu. Ke ngoko, uninzi loogqirha alucebisi ukuba wonke umntu afumane olu vavanyo lwe-'BRCA'. Nangona kunjalo, ukuba unezinto ezithile ezinobungozi, ugqirha wakho unokukucebisa ukuba ufumane olu vavanyo.

Ngoku makhe sibone ukuba zeziphi ezo zinto zinobungozi:

• Ukuba ukhe waba nomhlaza webele , ingakumbi ukuba uvele ungekafiki kwiminyaka engama-50 ubudala.
• Ukuba isalamane esisondeleyo kusapho lwakho (umama, utata, abantakwenu, abantwana) sele sifunyenwe sine-'BRCA' mutation.
• Ukuba elinye okanye amalungu amaninzi osapho lwakho akhe aba nomhlaza webele (ingakumbi ukuba amadoda akhe aba nomhlaza webele, oko kubalulekile).
• Ukuba unomhlaza webele kunye nomhlaza wesibeleko.
• Ukuba ungowohlanga lwamaJuda angama-Ashkenazi (abantu beli qela banamathuba amaninzi okuba ne-BRCA mutations).
• Ukuba wena okanye umntu kusapho lwakho unembali yokuhlaselwa ziintlobo ezahlukeneyo zomhlaza.
• Ukuba kukho umntu kusapho lwakho onesifo esibangela umhlaza, umzekelo, iCowden syndrome, iFanconi anemia, iLi-Fraumeni syndrome, okanye iPeutz-Jeghers syndrome.

Ukuba enye okanye ezingaphezulu kwezi zinto ziyasebenza kuwe, kuya kuba bubulumko ukuthetha nogqirha kwaye ucinge ngokwenza uvavanyo lwe-BRCA.

Yintoni esinokuyifunda kuvavanyo lwe-BRCA?

Khawuthelekelele ukuba uvavanyiwe. Ukuba ibonisa ukuba unenguqu kwi-genes ye-`BRCA1` okanye ye-`BRCA2`, oko kuthetha ukuba usengozini enkulu yokuba nomhlaza webele kunomntu oqhelekileyo . Ezinye izifundo zibonise ukuba umntu onoguquko lwe-`BRCA` unamathuba aphindwe kathandathu okuba nomhlaza webele xa eneminyaka engama-80 kunomntu oqhelekileyo. Kwakhona, umhlaza unamathuba amaninzi okukhula usemncinci kwaye uchaphazele amabele omabini .

Ayipheleli apho, utshintsho lwe-BRCA lunokunyusa umngcipheko wezinye iintlobo ezininzi zomhlaza. Ezona ziphambili zezi:

• Umhlaza wesibeleko kunye nomhlaza onxulumeneyo emibini, umhlaza wetyhubhu ye-fallopian kunye nomhlaza we-peritoneal.
• Umhlaza weprostate - Oku kubalulekile kumadoda.
• (Umhlaza wepancreatic)` (umhlaza wepancreatic).
• ` (Fanconi anemia)` (Fanconi anemia) - Lo ngumhlaza ongaqhelekanga, odla ngokuvela ebuntwaneni.

Kubalulekile: Ukuba notshintsho lwe-BRCA akuthethi ukuba ngokuqinisekileyo uza kuba nomhlaza. Kuthetha ukuba usengozini enkulu. Ukwazi oku kunokukunceda uthathe amanyathelo okunciphisa umngcipheko wakho.

Kwenzeka ntoni ngaphambi kovavanyo lwe-BRCA?

Ngaphambi kokuba wenze uvavanyo lwe-BRCA, kuya kufuneka ubone umcebisi wezemfuza . Eli linyathelo elibaluleke kakhulu. Lo mcebisi wezemfuza uza kukuchazela indlela ii-genes ozifumene kusapho lwakho ezinokuchaphazela ngayo umngcipheko wakho womhlaza. Baza kukuchazela:

• Kuthetha ukuthini ukuba iziphumo zovavanyo lwe-BRCA zilungile okanye azilunganga?
• Iziphumo zovavanyo lwakho ziyichaphazela njani ingozi yakho yomhlaza?
• Isiphumo sakho siyichaphazela njani ingozi yamanye amalungu osapho lwakho?

Kungcono ukwenza uvavanyo kuphela emva kokuba ukuqondile kakuhle konke oku.

Kwenzeka ntoni xa ufumana uvavanyo lwe-BRCA?

Kulula kakhulu. Uvavanyo lwe-BRCA lufuna kuphela igazi elincinci kuwe.Kufana nje naxa uvavanywa igazi okanye xa unikela ngegazi. Ugqirha okanye umongikazi ufaka inaliti encinci emthanjeni osengalweni yakho aze akhuphe igazi elincinci ebhotileni encinci.

Usenokuva intlungu encinci xa inaliti ifakwa kwaye isuswa. Kodwa oku kuya kuphela kwimizuzu engaphantsi kwemihlanu. Ukuba kukho ukopha okuncinci, iplasta encinci ingafakwa kwindawo leyo. Ngamanye amaxesha olu vavanyo lunokwenziwa ngesampuli yamathe.

Kwenzeka ntoni emva kovavanyo lwe-BRCA?

Ugqirha wakho uza kukuxelela ukuba kuza kuthatha ixesha elingakanani ukufumana iziphumo zakho. Emva kokuba iziphumo zakho zibuyile, kubalulekile ukubonana nomcebisi wakho wezofuzo kwakhona. Banokukuchazela iziphumo baze bakuchazele ngeendlela onokukhetha kuzo.

Zithini iziphumo ezinokubakho zovavanyo lwe-BRCA?

Kunokubakho iintlobo ezintathu zeziphumo.

1. Kuthekani ukuba iziphumo zilungile?

Ukuba une-BRCA mutation, oko kuthetha ukuba usengozini enkulu yokuba nomhlaza. Kodwa, ungakhathazeki. Oko akuthethi ukuba ngokuqinisekileyo uza kuba nomhlaza. Ukwazi oku kunokukunceda uthathe amanyathelo afanelekileyo okuthintela umhlaza, uwubone kwangethuba, okanye uwuthintele. Kunokunceda nabanye kusapho lwakho ukuba baqonde umngcipheko wabo.

Thetha nogqirha wakho kunye nomcebisi wezemfuza ukuze ugqibe kwelokuba amanye amalungu osapho lwakho kufuneka avavanywe na. Baza kukuxelela nangamanyathelo okuthintela onokuwathatha. Umzekelo:

• Ukufumana uhlolo lomhlaza rhoqo: Umzekelo, ukufumana ii-mammogram rhoqo.
• Iindlela ezongezelelweyo zovavanyo: Izinto ezifana ne-MRI yebele.
• Ukunciphisa ukusetyenziswa kwezinye iipilisi zokulawula ukuzala: Nangona ezinye iipilisi zokulawula ukuzala zinokunciphisa umngcipheko womhlaza wesibeleko, zinokunyusa umngcipheko womhlaza webele kwabanye abantu. Kuya kufuneka uthethe nogqirha wakho ngale nto.
• Ukusetyenziswa kwamayeza okulwa nomhlaza: Umzekelo, amayeza afana ne-tamoxifen.
• Utyando lokuthintela: Ukususa izicubu zebele ezisempilweni ngaphambi kokuba umhlaza uvele (ukususwa kwe-mastectomy yokuthintela) okanye ukususa ii-ovari kunye nee-fallopian tubes (ukususwa kwe-ovari kunye nee-fallopian tubes zokuthintela). Ezi zizigqibo ezinkulu, ngoko ke kufuneka zenziwe emva kokucingisisa kakuhle kunye nengxoxo nogqirha wakho.

2. Kuthekani ukuba iziphumo zithi azikho?

Iziphumo ezingezizo zithetha ukuba awunayo i-'BRCA` mutation. Kwakhona, awuyi kudlula i-'BRCA` mutation' kubantwana bakho. Nangona kunjalo, uvavanyo olungezizo lwe-'BRCA` aluqinisekisi ukuba awusoze ube nomhlaza. Oku kuthetha ukuba umngcipheko wakho ufana nowomntu othile kuluntu ngokubanzi.

Nangona kunjalo, ukuba uvavanyo lwakho alubonisi ukuba une-HIV, kodwa elinye okanye amalungu osapho lwakho aye anesifo somhlaza webele ngaphambi kokuba abe neminyaka engama-50 ubudala, imeko inzima kancinci. Oku kunokuthetha ukuba usapho lwakho lunolunye utshintsho lwezakhi zofuzo oluyandisa umngcipheko wakho wokuba nomhlaza. Umcebisi wakho wezakhi zofuzo angakunceda uqonde ezi ziphumo kwaye uthathe isigqibo sokuba ngaba kufuneka olunye uvavanyo.

3. Kuthekani ukuba isiphumo asiqinisekanga?

Ngamanye amaxesha isiphumo sinokuba "singenakucaciswa." Oku kuthetha ukuba unotshintsho kwenye yezakhi zofuzo zakho ze-BRCA1 okanye ze-BRCA2, kodwa olo tshintsho alukachongwa njengotshintsho olwenyusa umngcipheko wakho wokuba nomhlaza webele. Oku kubizwa ngokuba yi-"Variant of unknown significance" (VUS) . Ukuba oku kuyenzeka, umcebisi wakho wezakhi zofuzo uza kukuchazela iziphumo aze akuncede uthathe isigqibo sokuba wena okanye abanye kusapho lwakho bafuna olunye uvavanyo lwezakhi zofuzo.

Zithini iingenelo zovavanyo lwe-BRCA? Ngaba kukho naziphi na iingozi?

Eyona nzuzo inkulu yolu vavanyo kukuba lukuxelela ukuba ngaba une-'BRCA' gene mutation. Oku kukunika ukuqonda okungcono komngcipheko wakho womhlaza. Kwakhona, olu lwazi lunokunceda usapho lwakho ukuba lwenze izigqibo malunga nempilo yalo. Ngoku kukho "iiphaneli zovavanyo lwemfuza ezibanzi" ezivavanya ezinye ii-genes ezininzi ukongeza kwi-"BRCA1/BRCA2". Umcebisi wakho wemfuza unokukukhokela kuvavanyo olufanelekileyo kuwe.

Ngokuphathelele iingozi, akukho zingozi zinkulu kolu vavanyo. Luhlobo nje lokutsalwa kwegazi olulula kakhulu.

Ndingayibuza ntoni ugqirha/umongikazi wam?

Ukuba ucinga ngolu vavanyo, okanye sele ulwenzile, kulungile ukubuza ugqirha wakho okanye umcebisi wezemfuza le mibuzo:

• Ingaba ngumbono olungileyo na ukuba nabani na kusapho lwam enze olu vavanyo lwe-'BRCA'?
• Ukuba uvavanyo lwam luthi ndinayo, ngaba oko kuthetha ukuba nabantwana bam baya kuba nolo tshintsho lwemfuza?
• Iziphumo zam zovavanyo ziza kuyichaphazela njani inkqubo yokuhlolwa komhlaza wamabele, kunye nokuhlolwa kwezinye iintlobo zomhlaza?
• Ukuba uvavanyo lwam lubonise ukuba ndinayo, ndingenza ntoni ukunciphisa umngcipheko wokuba neentlobo ezithile zomhlaza?
• Ngaba uhlobo lovavanyo endilwenzileyo lunokufumanisa ezinye iinguqu zemfuza?

Kubaluleke kakhulu ukuba uzazi iimpendulo zale mibuzo.

Okokugqibela, izinto ekufuneka uzikhumbule (Umyalezo Wokuya Ekhaya)

Uvavanyo lwe-`BRCA` luvavanyo olukhangela utshintsho olungaqhelekanga, okanye utshintsho, kwizakhi zofuzo ze-`BRCA1` kunye ne-`BRCA2`. Ukuba iziphumo zilungile, oko kuthetha ukuba usengozini ephezulu kunomntu oqhelekileyo yokuba nomhlaza webele, wesibeleko, kunye nezinye iintlobo ezithile zomhlaza.

Kodwa, okubaluleke kakhulu, ukwazi ukuba une-BRCA gene change kukuvumela ukuba uthathe amanyathelo okunciphisa umngcipheko wakho nokuthintela umhlaza.Kwakhona, olu lwazi lunokuba lubaluleke kakhulu kusapho lwakho. Ngoko ke, ungoyiki ukuthetha nogqirha wakho okanye nomcebisi wezemfuza ngale nto, uze ufumane ukuqonda okufanelekileyo malunga nokuba uyaludinga na olu vavanyo, kwaye ukuba kunjalo, indlela yokuqhubeka neziphumo.

Uvavanyo lwe- BRCA, umhlaza webele, umhlaza wesibeleko, uvavanyo lwemfuza, umngcipheko womhlaza, utshintsho lwemfuza