Ziziphi i-Cancers ezibangelwa yiinguqulelo ze-BRCA2 kunye nokuba ziqhele kangakanani?
Ukuba uye wafunda ukuba uphethe i-BRCA2 ye-gene mutation, okanye ukuba unomdla, unokufuna ukwazi ntoni? I-BRCA2 inguquko yesiginci inganyusa ingozi yomhlaza wesifuba kunye nezinye izicubu.
Iinguqu ze-BRCA2 zihlala zidibaniswa kunye ne-BRCA1 zinguqulelo, kodwa kukho izinto ezininzi ezibalulekileyo. Ukutshintshwa kwezimbini zineengozi ezahlukahlukeneyo zomhlaza wesifuba kunye ne-ovarian kwaye nazo zidibene neekresi ezahlukeneyo kwezinye iindawo zomzimba.
Ngokomzekelo, umdlavuza we-pancreatic uqheleke kakhulu kwiinguqu ze-BRCA2.
Ukuqonda ukungafani kwezi zinguqu kubalulekile ekuqondeni imbali yentsapho yakho. Ugqirha wakho unokukhathazeka xa unesihlobo esisondelene naye esinesifo somhlaza wesifuba kunye nomntu onomdlavuza we-pancreatic kunokuba ngaba unesibini ngomhlaza wesibele. Umhlaza we-Pancreatic awuqhelekanga kunomdlavuza webele, kwaye xa kwenzeka ngokubambisana nomhlaza wesifuba kuphakamisa ifulegi ebonisa ukuguqulwa kwe-BRCA2.
Inkcazo
Ukuhlaziywa ngokukhawuleza kwemizimba kungenza iinguqulelo ze-BRCA zilula ukuqonda. I- DNA yethu yenziwe ngama-chromosomes angama-46, 23 ukusuka koobawo kunye no-23 koomama. Izifo zeGenesis ziziqendu ze-DNA ezifumaneka kuma-chromosomes ezikhokelela kwimisebenzi ethile. Zifana neprogram eyenziwa ngumzimba ukwenza iiprotheni. Ezi proteins zinezinto ezininzi ezahlukahlukeneyo ezivela kwi-hemoglobin egazini lakho elibopha umoya-mpilo, ukukhusela kumdlavuza.
Ukuguqulwa kwamanzi kuyimimandla yamagciwane awonakele. Xa i-gene okanye i-blueprint yonakaliswe, iprotheni engavumelekanga ingenziwa yinto engasebenzi njengeprotheni eqhelekileyo. Kukho iintlobo ezahlukeneyo zeenguqu ze-BRCA. I "khowudi" kwiijethi iyancitshiswa kwiluhlu lweencwadi (ezibizwa ngokuba njengeziseko). Uchungechunge lweetalela xelela umzimba wakho ukubeka i-amino acid ezahlukeneyo ukwenzela ukwenza iprotheni.
Ngokuqhelekileyo isiseko sisusiwe (ukususa utshintsho), ngamanye amaxesha omnye uyongezwa, kwaye ngamanye amaxesha ubuninzi beziseko zihlaziywa.
Unomdlavuza njani
I-gene ye-BRCA yimizimba ekhethekileyo ebizwa ngokuba yi- genetic suppressor gene ephethe isicwangciso seeprotheni ezinokusinceda sikhusele umhlaza.
Ukulimala (utshintsho kunye nezinye iinguqu zofuzo) kwenzeka kwi-DNA yamaseli ethu yonke imihla. Uninzi lwexesha, iiprotheni (ezinjengezo zikhowudiweyo kwi-BRCA i-stroke suppressor genes) ukulungisa umonakalo okanye ukuphelisa iseli engavumelekanga ngaphambi kokuba ihambe kwinkqubo yokuba ngumhlaza. Ngeenguquko ze-BRCA2, nangona kunjalo, le protein ayiqhelekanga, ngoko ke lolu hlobo oluthile lokulungiswa alukho (i-BRCA iiprotheni zokulungisa i-DNA).
Ukukhula
Ukuba nokuguqulwa kwe-BRCA akuqhelekanga. I-BRCA1 iinguqulelo zitholakala kwi-0.2 ekhulwini yabemi, okanye 1 kwi-500 abantu. I-BRCA2 iinguqu zininzi kwaye zifumaneka kwi-0.45 pesenti yabemi, okanye 1 kwabangu-222 abantu, nangona kukho ukuhluka kwezifundo ezahlukeneyo. I-BRCA1 iinguqu zixhaphake kakhulu kwii-Ashkenazi zelifa lamaYuda, kanti i-BRCA2 iinguqu zitshintsha kakhulu.
Ngubani omele ahlolwe?
Ngexesha langoku, akukhuthazwa ukuba uvavanyo lwe-BRCA2 lwenziwe ngabantu bonke.
Esikhundleni saloo, abanembali yomntu okanye intsapho yomdla banokufuna ukujonga ukuhlolwa ukuba iphethini kunye neentlobo zomhlaza zifumanise ukuba ukuguqulwa kungenzeka. Funda kabanzi malunga nokuba ufanele ucinge ukuhlolwa kwe-BRCA .
Iintsholongwane ezibangelwa nguMutshintsho
Ukuba nokuguqulwa kwe-BRCA2 kwahluke kunokuba utshintshwe kwe-BRCA1 (oko kwakungowokuthi u-Angelina Jolie wayethetha ngokuphindaphindiweyo) kwaye uphakamisa umngcipheko weentlobo ezahlukeneyo zomhlaza. Ngeli xesha, nangona kunjalo, ulwazi lwethu luyaqhubeka kwaye oku kungatshintshwa ngexesha. Iintsholongwane eziqhelekileyo kubantu abanokuguquka kwe-BRCA2 ziquka:
- Umhlaza wesifuba: Umhlaza wesibeletho ngenxa ye-BRCA iinguqu zokuguqula i-BR ukuya kuma-20 ukuya kuma-25 ekhulwini lomhlaza webele. Abafazi abaneengxaki ze-BRCA2 baneempesenti ezingama-45 zokuvelisa umdlavuza webele xa beneminyaka engama-70 (i-lower inferior kune-BRCA1). Amadoda anokuguquguquka kwe-BRCA2 anokufumana ingozi ephakamileyo, kodwa le mngcipheko ungama-1 ekhulwini. Abasetyhini kunye namadoda anesigxina se-BRCA bavame ukuhlakulela umdlavuza webele xa selula.
- Umhlaza we-Ovarian: Abasetyhini abane-BRCA2 ukuguqulwa kwamathuba e-11 ukuya kuma-17 amathuba okuphucula umdlavuza we-ovariya eneminyaka engama-70 (nayo iphantsi kakhulu kunomxholo we-BRCA1). Abasetyhini abane-BRCA2 ukuguqulwa kwamathambo bathambekele ekuphuhliseni umdlavuza we-ovarian ngexesha elincinane kunabesifazana abangenawo utshintsho.
- Umhlaza wesifo seprotate: Amadoda kunye ne-BRCA1 kunye ne-BRCA2 iinguqu ezinama-4.5 ukuya kuma-8.3 amathuba okuba nomdlavuza wesibeletho. Labo abaneenguquko ze-BRCA2 (ngokungafani ne-BRCA1) bavame ukuvelisa umdlavuza wesifo seprotate kunye nomlinganiselo wokusinda oneminyaka emi-5 ungama-50 ekhulwini (xa kuthelekiswa nama-99 ekhulwini kwi-5-year survival rate).
- Umhlaza wePancreatic: Umngcipheko womhlaza wesifo somhlaza unyuke. Kwalabo abahlakulela umdlavuza we-pancreatic, olunye uphando luboniswe ukuba ngenkqubela abantu ababenomdlavuza we-BRCA2 bephantsi kunabo ababenomdlavuza we-pancreatic sporadic, abo banokuguqulwa kwamanzi baye baphumelela ngakumbi kwi-chemotherapy kunokuba bengenanto yokuguquka.
- Umdlavuza womlenze: Asinalo uphando oluninzi kwimpembelelo ye-BRCA2 kwingozi yomdlavuza wamaphaphu . Kwisifundo esinye, abasetyhini abaye babhema kwaye banokuguqulwa kwe-BRCA2 kabili amathuba okuba bavelise umdlavuza wamaphaphu kunokuba bahambisane nomntu ongalungileyo.
- I-leukemia: Abantu abanokuguqulwa kwe-BRCA1 ababonakali banomngcipheko we- leukemia . Umngcipheko ubonakala uphakanyisiwe kwabasetyhini abaneenguquko ze-BRCA2 abaye bafumana ikhemotherapy yomhlaza wesifuba .
Ngokungafani nomngcipheko wokwanda komdlavuza wekoloni kwabanye abantu abane-BRCA1, utshintsho olulodwa alufumani naluphi na umngcipheko okongezelelekileyo kulabo abane-BRCA2 utshintsho olungaphezulu kwelo lonke uluntu. Ezinye izifundo zixhase oku kufunyanwa. Izikhokelo zokucoca zicetyiswa ukuba bonke abantu bane-colonoscopy yokuhlola (okanye ukuvavanya okufana noko) kwiminyaka engama-50.
Abantu abazuza iikopi ezimbini ze-BRCA2 yegazi, ngaphezu kweekhredithi ezingasentla, banakho ukuvelisa izicubu ezinzulu ebuntwaneni kunye ne-leukemia engummangaliso.
Ukunciphisa Ubungozi bokufa
Kukho iindlela ezahlukeneyo zokulawula abantu abaneenguquko ze-BRCA2, zombini zazo zenzelwe ukunciphisa ithuba lokuba umntu abuye afe komnye weengcingo zomngcipheko:
- Ukufumanisa kwangaphambili: Ukufunyanwa kwangaphambili yinkqubo yokuzama ukufumana umhlaza owenziwe kwinqanaba lokuqala. Ngomdlavuza oninzi, siyazi ukuba ukusinda kuphezulu xa kufunyenwe kwisigaba sokuqala (umzekelo, isigaba 1 okanye isigaba sesi-2) kunokuba kufunyanwe kwisithuba esilandelayo (njengesigaba 4). Ngokufumanisa kwangaphambili, umgomo ukufumana umhlaza ngaphambi kokuba ungabangela ezinye iimpawu eziza kubakho ekufumaneni. Asinayo iindlela zokufumanisa zonke i-cancers kulezi zigaba zokuqala, kwaye iimvavanyo esinazo azifezekanga. Ngokomzekelo, abaninzi baye beva malunga nabasetyhini abanomdlavuza wesifuba nangona benesifo esiqhelekileyo.
- Ukunciphisa Ingozi: Amacandelo okunciphisa ingozi asebenza ekunciphiseni umngcipheko wokuba umhlaza uza kuphuhliswa kwindawo yokuqala. Zenzelwe ukunqanda umdlavuza ukuba ungabikho. Izindlela zokunciphisa ziquka ukuhlinzwa okanye imithi (i-chemoprevention).
Uninzi lweendlela eziza kubangela umhlaza ziquka ukuhlola okanye ukunciphisa umngcipheko, kodwa kukho uvavanyo olulodwa olunokukwenza zombini. I-Colonoscopy ingasetyenziselwa ukufumanisa umdlavuza wekoloni kumazinga okuqala. Noko ke, kunokusetyenziswa ekunciphiseni umngcipheko womntu ofumana umdlavuza ukuba i-polyp pre-cancerous ifunyenwe kwaye isuswe ngaphambi kokuba ibe yingozi.
UkuHlola nokuPhathwa
Asinakho ukuhlola okanye ukhetho lwezokwelapha kuzo zonke i-cancer ezinxulumene ne-BRCA2. Kwakhona kwangoko kwinkqubo yokuqwalasela iindlela zokujonga kunye nezonyango ezingcono, ngoko kubalulekile ukuba ugqirha onamava ekunyamekeleni abathwali bezithuthi ze-BRCA. Makhe sijonge kwizinto ezikhethwa ngumhlaza womhlaza.
Umhlaza webele
- Ukuhlola: Ngokuxhomekeka kwimbali yakho yentsapho kunye nentsapho yakho, ukucoca ngokuqhelekileyo kuqalwe kumncinci omncinci kunabantu abangenawo utshintsho. Iimvavanyo zovavanyo zingabandakanya i-mammography, i-MRI yebele, kunye ne-ultrasound. Amammograms awanamalungelo angaphantsi kwabesetyhini abasebancinci ngenxa yobuninzi bebele kunye ne-MRIs ngokuqhelekileyo indlela ekhethiweyo.
- I-Chemoprevention: Imithi eyaziwa ngokuba yi-receptor modulators (SERMS) ekhethiweyo i-SERMS inganciphisa umngcipheko wokuba nomdlavuza webele. Amayeza atholakalayo afaka tamoxifen kunye noVevista (raloxifen) .
- Ugqirha: I-mastectomy ephakathi kwamanye amazwe inciphisa kakhulu umngcipheko wokuba nomdlavuza webele. Kodwa ixesha lokuhlinzwa, kunjalo, kuxhomekeka kwiimeko ezininzi, kubandakanywa izicwangciso zokuzala kunye nesifiso sokuncelisa.
I-Ovarian Cancer
- Ukuhlola: Okwamanje asikho indlela yokwaneliseka yokujonga umdlavuza we-ovari. Oogqirha banokuqwalasela iimvavanyo ezifana ne-ultrasound yangaphandle, iimviwo zeklinikhi kunye ne-CA-125, kodwa asikwazi ukuba ukuhlola okunjalo kuphucula ukuqhubeka.
- I-Chemoprevention: Ukusetyenziswa kwamapilisi okulawula ukuzalwa kunokunciphisa umngcipheko we-ovarian umdlavuza ukuya kuma-50 ekhulwini ngokusetyenziswa kwexesha elide.
- Ugqirha: Ukususwa kwee-ovari kunye ne-fallopian tubes (i- salpingo-oophorectomy ) inokunciphisa umngcipheko wesifo somhlaza we-ovari. Njengomdlavuza wesifuba emva kwesifo se-mastectomy, abanye abasetyhini banokufumana umdlavuza we-ovari kodwa kungabonakali kakhulu.
Cancer Cancer
- Ukuhlolwa kwangoku kwesifo somhlaza wesifo seprotate kuqhutywe ngxabano, kuquka ukuhlolwa kwe-PSA. Kulabo abathwala ukuguqulwa kwe-BRCA2, kubalulekile ukusebenza kunye ne-urologist eyazi kakuhle isifo esinobudlova esitholakalayo kumadoda anolu tshintsho. Izikhokelo zamanje zoluntu ngokubanzi akufanele zilandelwe ngamadoda anokuguquka kwe-BRCA2. I-American Society ye-Clinical Oncology iphakamisa iPSA yonyaka kunye nokuhlolwa kwegedijithali ukususela kwiminyaka engama-40.
Ngomhlaza wePancreatic
- Asikho izikhokelo ezicacileyo ekuhlolweni komdlavuza we-pancreatic, nangona uphando lubonisa ukuba kwizigulane ezifanelekileyo (abo bangaphezu kweminyaka engama-50 kunye mhlawumbi ngamashumi ama-60), ukuphonononga kungaba luncedo
ILizwi
Abantu abathwala ukuguquka kwe-BRCA2 banomngcipheko okhulayo wokuphuhlisa iintlobo ezininzi zomhlaza. Kweminye yalezi, kukho iindlela zokuphonononga ezinokunceda ekutholeni kwangaphambili, kwakunye neendlela zokugonywa kunye nezonyango zokunciphisa umngcipheko.
Ngokuqinisekileyo, indlela yokuphila enempilo ayikwazi ukuhlaziywa xa ihlanganiswe nenye yale miququzelo, njengoko siyazi ukuba iinguqu ze-BRCA aziqinisekisi ukuba uya kuba nomhlaza. Abantu abaninzi babuza malunga nokuvavanya, kodwa ngoku ukuvavanya kwangoku kunconywa kuphela kulabo abanembali yomntu okanye yentsapho ebonisa ukuba utshintsho lube khona.
> Imithombo:
> I-American Society of Clinical Oncology Cancer.net. I-Breeditary Breast ne-Ovarian Cancer. Updated 07/17. https://www.cancer.net/cancer-types/hereditary-breast-and-ovarian-cancer
> Leao, R., Price, A., noRames James Hamilton. Ukuguquguquka kwe-BRCA ye-Germination kwi-Carriers-Ripe for Precision Oncology. I-prostate Cancer kunye neProstatic Disease . 2017 Ngomhla wama-14. (Epub phambi kokuprinta).
> Maxwell, K., Domcheck, S., Nathanson, K. et al. Ubuninzi Bemihlali YeGermanline BRCA1 / 2 Inguqulelo. Umbhalo we-Clinical Oncology . 2016. 34 (34): 4183-4185.
> INational Cancer Institute. I-BRCA1 ne-BRCA2: Ingozi yeCcercer and Testing Genetic. https://www.cancer.gov/about-cancer/causes-prevention/genetics/brca-fact-sheet
> Ilayibrari yeSizwe ka-US yamayeza. I-Reference Reference Home. IGCA2. Ukuhlaziywa 01/23/18. https://ghr.nlm.nih.gov/gene/BRCA2