Ukuqonda i-Hereditary Cancer, Ukuvivinya I-Genetic, kanye Nezingozi
Yini ngempela umdlavuza wefa? Ngenkulumo mayelana nezivivinyo zokuhlola i-genetic kanye "nezakhi zomdlavuza webele," abantu abaningi baye baqala ukuzibuza ukuthi umdlavuza "ubhalwe ezinkanyezini." Ngakho-ke kubalulekile ukuqonda lokho okushiwo izakhi zofuzo, kanye nokuthi yini ongayenza ukuze unciphise ingozi yakho uma unomlando womndeni womdlavuza.
Yini i-Hereditary Cancer noma i-Genetic Predisposition?
Umdlavuza we-Hereditary ubhekisela kumdlavuza ongase abe khona kwabanye abantu kunamanye asekelwe ohlelweni lwabo lofuzo.
Umdlavuza we-Hereditary ngumdlavuza oye wakha ngenxa yokuguquka kwezakhi zofuzo noma okunye okungajwayelekile kofuzo okuvela kumzali kuya kwengane. Ukuzuza izakhi zofuzo akusho ukuthi uzokwakha umdlavuza, kodwa ngokuqinisekile kukhulisa ingozi (uma kuqhathaniswa nomuntu ongazuze ifa eliguquguqukayo). Amanqamu ayenzeka kubantu abanezifo ezingezona zofuzo abizwa ngokuthi "i-cancer yesifo ."
I-Cancer ayizuze ifa, esikhundleni salokho, uzuza ifa lomzimba (noma ukuhlanganiswa kwezakhi zofuzo noma ezinye izinto ezingafani nezakhi zofuzo ezifana nokudluliselwa kanye nokuhlelwa kabusha) ezingakunqanda umdlavuza, futhi lokho okungahle kube khona kuncane noma kukhulu kakhulu, kuye ngokuthi isakhi sofuzo ezinye izici eziyingozi noma inhlanganisela yezakhi zofuzo.
Ukuba nomthelela wokuguqula izakhi zofuzo ongaholela emdlalweni kusho ukuthi unesifo " somzimba " somdlavuza - okungukuthi, unengozi enkulu yokuba nomdlavuza kunabantu abaningi.
I-genetic mutations kanye ne-cancer
Kunezinhlobo ezimbili zezakhi zofuzo ezingaholela emdlalweni:
- Izinguquko ezithintekayo
- Izinguquko ezithintekayo
Ukuguqulwa kwezidakamizwa kugxila ekuthuthukisweni komdlavuza, kodwa akuzona zonke izinhlobo zomdlavuza eziphilayo, njengoba ukwelashwa okuningi kungumphumela wokuguquka kwezakhi zofuzo (izinguquko ezenzeka ngemva kokuzalwa).
Ngesikhathi sethu sokuphila, izakhi zethu zofuzo zitholela izinguquko ngenxa yokutholakala kwamagciwane (izinto ezibangelwa umdlavuza), kodwa futhi ngenxa yezinqubo ezivamile zamaseli:
- Njalo uma iseli lihlukanisa, kufanele lenze ikhophi ephelele ye-DNA esitokisini.
- Le DNA ingalimala (iguquliwe) nje njengengozi ngesikhathi sokuhlukanisa.
- Izinguquko ezibangelwa ngesikhathi sokuhlukanisa yisona sizathu sokuthi umdlavuza uba ovamile kubantu abadala. Yisizathu sokuthi ukuvuvukala okungapheli, okunjengomusa okwenzeka emlonyeni nasemaphaphu ngokubhema, kungabangela umdlavuza.
- Esikhathini esiningi sokuthi lokhu kulimala ku-DNA kwenzeka, kungenzeka kulungiswe, noma iseli lihamba ngenqubo yokufa kwe-cell ehleliwe (i-apoptosis).
Isizathu sokuthi sonke asitholi umdlavuza ngaso sonke isikhathi ukuthi sinendlela yokulungisa umonakalo ongenakugwema okwenzeka ku-DNA yethu. Ezinye zezakhi zethu zofuzo zibizwa ngokuthi i-tumor suppressor genes. Ikhodi yokuphefumula i-tumor ye-geni yama-protein alungisa i-DNA ewonakele emasethini ethu. Lapho izifo zofuzo ezixoshwayo ziguquka, zikhombela amaprotheni angasebenzi kahle ekwenzeni lo msebenzi wokulungisa, futhi amaseli awonakele avunyelwe ukuba aphile futhi aphindwe futhi ekugcineni abe yisifo (umdlavuza).
Yini eyenza i-Cancers ibe yi-Hereditary?
Umzali ngamunye udlulisela ingane yakhe ikhophi yezakhi zabo zofuzo ukuze ingane izalwe ngamakhophi amabili egazini ngalinye emzimbeni wabo (elilodwa kusuka kumama nelinye elivela kubaba). Abantu abaningi bazalwa ngamakhophi amabili avamile yesigcawu, kodwana kumuntu onenarha yokuguqulwa ngefa lakhe kwelinye ikhophi ye-tumor suppressor gene (okuvame ukuvikela umdlavuza) kusho ukuthi ingozi yomdlavuza yanda.
Izakhi zofuzo ezimbili ezivamile zesifo sofuba yizakhi zofuzo ze-BRCA1 ne-BRCA2. Amakhulu ezinhlobo ezahlukene zezakhi zohlobo oluthile ezihlukahlukene ze-BRCA1 ne-BRCA2 ziye zabonwa, ezinye zazo zizimisele ukulimaza futhi zandisa ingozi yomdlavuza uma izakhi zofuzo eziguquguqukayo zidluliselwa ezinganeni.
Umlando Womndeni We-Cancer: Ingabe Usengozini?
Kubalulekile ukuqaphela ukuthi kunezinye ukwelapha okungenzeka kakhulu kunabanye ukuba babe ne-genetic component. Kukhona namanomdlavuza asebenza ndawonye ngamaqoqo. Isibonelo, uma umuntu enomlando womndeni wesifo somdlavuza webele webele kanye nezinye izihlobo ezinomdlavuza we-pancreatic ungase usolise ushintsho lwezakhi ze-BRCA2. Abantu abanomdlavuza wekoloni banengozi encane yokuthuthukisa umdlavuza webele. Ekunqumeni ingozi, abacebisi bezakhi zofuzo babheka izici eziningana:
- Isibalo sezihlobo eziye zaba nomdlavuza (zombili umdlavuza kanye nomdlavuza.)
- Izinhlobo zomdlavuza (njengoba kuphawuliwe ngaphambili, ezinye zegciwane zingase zisebenze emndenini kunabanye.)
- Ukuhlanganiswa kwezinhlobo zomdlavuza - Ngokuvamile akuqapheli ukuthi inhlanganisela yamagciwane angacatshangwa ukuthi unesixhumanisi esikhulu sezakhi zofuzo ngisho namalungu omndeni amabili anomdlavuza kwenye indawo. Isibonelo, ukuguqulwa kwegciwane le-BRCA2 kungenzeka ukuthi kwakuyisifo somdlavuza wesibeletho esiswini esisodwa, umdlavuza we-ovariya kwesinye, umdlavuza wesifo sofuba emdlalweni wesithathu, nomdlavuza we-pancreatic nge-4th. Inhlanganisela enjengale ingase ibe nokukhathazeka okuningi kunokuthola umdlavuza webele emzimbeni ayisithupha noma ayisishiyagalombili. Lokhu kusho ukuthi wonke umuntu kufanele athathe umlando womndeni oqaphele kakhulu womdlavuza emindenini yabo ukuze baxoxe nodokotela babo.
- I-Cancer nobulili - Isibonelo sobulili esinomthelela emdlalweni womdlavuza womndeni ngumdlavuza wesifuba, lapho umdlavuza wesikhumba emadodeni cishe unomdlavuza webele kunabesifazane.
- Inani lezihlobo ezinezifo nazo zibalulekile. Ngokuqinisekile, ingozi yokuba nomdlavuza wekolon inkulu uma umama wakho, umalume, nomfowenu bephethe lesi sifo esikhundleni sokuba nesinye sezihlobo ezihambisana nesifo.
Ukuhlanganisa umlando wakho womndeni ophelele kungakusiza ukuba ulinganise uma uhlaselwe isifo somdlavuza. Abanye abantu bangase bakhethe ukuphishekela ukuhlolwa kofuzo ukuze bazi ukuthi baphatha isakhi sofuzo. Okungenani, futhi manje ukuthi sinezibalo eziningana zokuhlola izakhi zofuzo ezitholakalayo, wonke umuntu kufanele abhale umlando ophelele womdlavuza emndenini wabo owandisiwe ukuze ubuyekeze nodokotela wabo wokunakekela oyinhloko ngesikhathi sokusebenza ngokomzimba.
Ukululekwa nge-Genetic nokuhlolwa
Kubalulekile ukuthi usebenzise ukwelulekwa kwezakhi zofuzo uma ucubungula ukuhlolwa kofuzo. Isizathu esisodwa ukuthi uqonde inqubo yokuhlola nemiphumela futhi ulungele noma yikuphi impendulo engase ibe khona. Okubaluleke nakakhulu ukuthi lezo zindlela ezingozini zingase ziphawulwe lapho zingakafiki khona izivivinyo, kodwa ngokusekelwe kumlando wedwa kungase kunconywe ukuthi unezivivinyo ezengeziwe zokuhlolwa.
Ukuvivinya nge-genetic kungase kuzwakale kulula njengokuhlolwa kwegazi okusheshayo, kodwa akulona lokho okulula. Njengesibonelo esisheshayo, uma unelungu lomndeni obenomdlavuza webele kanye nokuguqulwa okunye ku-geneca ye-BRCA2, lokho kuguquka okungahle kuhlolwe. Uma kungenjalo, iphaneli egcwele ukuhlola konke ukuguqulwa kwesakhi se-BRCA2 kuphela kungabiza izinkulungwane zamadola ayizinkulungwane. Ukucabangela lokhu kungukuhlolwa kwesinye sezifo zofuzo, ungabona ukuthi lokhu kuhamba kuphi.
Ngokuhamba kwesikhathi nangomsebenzi wegciwane lomuntu ophelele, lolu hlobo lokuhlola lufanele luthuthuke, kodwa isayensi namanje, ngezindlela eziningi, zisencane.
Amanye amaphuzu okucatshangelwayo nokuxoxisana nomeluleki wezakhi zofuzo ngaphambi kokuba uhlolwe izakhi zofuzo kufaka:
- Yini ongayenza futhi ungabe uzizwa kanjani uma ufunde ukuthi unesifo somdlavuza kunhlobo oluthile lomdlavuza?
- Imiphi imiphumela enembile?
- Uhlolo lukutshela ukuthini ngempela?
- Yiziphi ukulinganiselwa kohlolo?
Ukuvivinya izifo kungakutshela ukuthi uhlelwe yinto ethile yokuguqula izakhi ezingakunikela ekufomeni ethile (noma ngaphezulu) yomdlavuza. Kwabaningi kancelisi, kukhona ukwesaba ukuthi ukuhlolwa kwezakhi zofuzo kuzonikeza abantu isiqinisekiso samanga mayelana nokungabi nengozi. Ake sibheke amancanyana ambalwa.
Umdlavuza Webele: Ingabe I-Genetic?
Umdlavuza wesibeletho ugijimela emindenini njengoba cishe amaphesenti angu-10 emdlavuza webele ubhekwa "njengezakhi zofuzo."
Abantu abaningi bajwayelene ne-BRCA1 / BRCA2 yeguqula izakhi zofuzo nomdlavuza webele. Ngesikhathi u-Angelina Jolie enesisindo sakhe sokuvimbela ngenxa yezinye zalezi zinguquko, umphakathi waba nesithakazelo ekuhloleni lezi zakhi zofuzo. Ngeshwa, ukuhlolwa kwalezi zakhi zofuzo akulula njengokuthatha nje "ukuhlolwa kwegazi" njengoba kunezindlela eziningi lapho izakhi zofuzo ze-BRCA1 ne-BRCA2 zingashintshwa khona.
I-BRCA1 ne-BRCA2 ziyizifo zofuzo eziphefumulayo. Lezi zakhi zofuzo zizuzwe ngefayela elilodwa le-autosomal pattern, okusho ukuthi kokubili amakhophi wegesi lakho kudingeka ashintshwe ukuze athuthukise umdlavuza webele. Uma ucabangela ukuhlolwa, ungaphuthelwa le mibono ukuthi ngabe kufanele yini ube nesifo segciwane lesifo somdlavuza webele.
Izakhi zomdlavuza empeleni ziyinkimbinkimbi kakhulu kunalokhu. Isibonelo, kungaba khona ukushintshashintsha kwe-oncogenes - izakhi zofuzo ezifana nomshayeli wokushayela imoto. Ngalokhu kuguqulwa, kungadingeka ukuthi kube yinguquko eyodwa kwekhophi eyodwa (i-autosomal eyinhloko). Ngokuphambene, eziningi zegciwane zokucindezela izifo zofuzo zizuzwe njengefa njengoba kuphawuliwe ngenhla. Ngaphezu kwalokho, kunezinye izici eziningi nezinqubo eziyinkimbinkimbi kakhulu ukubhekana nazo lapha, futhi eziningi ze-khansa zibangelwa ukuhlanganiswa kwezinguquko eziningana (okuhlukile kokubalulekile) kufaka phakathi kokubili ama-oncogenes kanye nezakhi zofuzo zokuphefumula, ngokuguquguquka okuningi, okuphinde kwenzeke ngemuva ukuzalwa.
I-prostate Cancer
Umdlavuza we-prostate ungaphinde ugijime emindeni, futhi kubonakala sengathi kukhona ukuxhumana phakathi kwe-prostate nomdlavuza webele .
Uma unomlando womndeni wesifo somdlavuza we-prostate, qiniseka ukuthi ukhuluma nodokotela wakho. Isibonelo, ukuhlolwa kwe-PSA kungasindisa izimpilo , kodwa akusiyo olwaziyo. Umdlavuza we-prostate unesixhumanisi esiphakeme sezakhi zofuzo, njengoba kulinganiselwa ukuthi ingozi yomzuzwana we-prostate yomdlavuza we-prostate iphakeme ngamaphesenti angama-60, nakuba kungamaphesenti angu-5 kuya kwangu-10 kuphela okucatshangwa ukuthi ahlobene nezakhi zofuzo zokwelapha. Uma ubaba noma umfowenu bebenomdlavuza we-prostate, ingozi yakho ingaphezu kokuphindwe kabili komuntu ngaphandle komlando womndeni wesifo.
Ukumiswa kwesifo somdlavuza weColon
Kukhona izinto eziningana okufanele uziqonde ngomdlavuza wekoloni - noma "izinhlobo" eziningana zokubeka kuqala. Abantu abangamaphesenti angama-20 abantu abakha umdlavuza wekoloni banomlando womndeni wesifo. Isandulela somdlavuza wekoloni singadluliselwa ngezindlela ezimbalwa:
- Ungaba nomlando womndeni womdlavuza wekoloni.
- Ungaba nesifo somdlavuza we-colon we-colon ezifana ne- Lynch syndrome (umdlavuza we-non-polyposis we-hereditary we-hereditary (HNPCC) ongowona owodwa, i-familial adenomatous polyposis syndrome, noma i- juvenile polyposis syndrome .
- Ungaba nesifo sofuba esibangele emndenini wakho, njengesifo sikaCrohn noma i-ulcerative colitis, okungase kuphakame ingozi yakho yokuthuthukisa umdlavuza wekolon.
Okunye I-Cancer ne-Genetics
Eminye imithwalo yemvelo edlalwa umdlavuza kaningi kanomdlavuza kanye kaningi kancane ngaphezu kwezinto okukhulunywe ngazo ngenhla kunezakhi zofuzo. Abantu abaningi abaqapheli izingozi ezithile zezakhi zofuzo, isibonelo, ukuthi amaphesenti angama-55 omngcipheko womuntu we- melanoma ngenxa yezakhi zofuzo , noma ukuthi, abesifazane ababhema abanokuguqulwa kwe-BRCA2 baye kabili ingozi yokuba nomdlavuza wamaphaphu . Lokhu kugcizelela ukuthi kungani kubaluleke kangaka ukukhuluma nodokotela wakho bese wabelana ngomlando womndeni ocophelelayo.
Ingabe i-Gene Test Test Ingakwenza Ulahlekelwe Umshwalense Wakho?
Umthetho we- Federal Health Portability and Accountability Act (HIPAA) uvimbela ukubandlulula kubantu ngokusekelwe kovivinyo lwegeni lomdlavuza mayelana nelungelo lokuthola umshuwalense wezempilo. Lokho kusho ukuthi kubalulekile ukucubungula ukutholakala kwezinto zokuhlolwa kwezakhi zofuzo ngokuphathelene nezinhlelo zokusebenza zomshuwalense wokuphila kanye nezinye izimo ongase ubuzwe ngazo mayelana nokuhlolwa okunjalo.
Ingabe Ukuguqulwa KwamaGenesis Kumdlavuza Kuhlale Kubi?
Mhlawumbe lokho kwakuyindlela enhle yokuveza iphuzu elibalulekile nelokugcina. Ngokuqinisekile, awusoze ufune ukuba nomdlavuza, noma uthwale isakhi esihlobene nomdlavuza. Kodwa ukuqaphela ukuthi izingozi zofuzo - nokusebenzisa lokho kuqwashisa - kungakushiya endaweni engcono kunokuba ungenayo ingozi. Kanjani?
Amaphesenti angama-10 emdlavuza webele abhekwa njengama-genetic, okusho ukuthi amaphesenti angama-90 awunjalo. Abesifazane abaningi abanomlando womndeni wesifo somdlavuza webele baqaphelisisa ngokuhlola futhi ngokushesha babone odokotela uma benesisindo. Kulabo abangenalo umlando womndeni, kungase kube khona ukungaqapheli okufanayo noma angase acabange ukuthi mhlawumbe isikhumba asiyona into ngoba akukho umlando womndeni. Kulesi simo esiyinkimbinkimbi owesifazane onesixhumanisi esizuzayo angase athathe isinyathelo ngokushesha - futhi abe nomdlavuza wakhe webele wesifo esitholakale esigabeni esingaphansi kwesifo - kunowesifazane ngaphandle komlando womndeni.
I-Can-Non-Genetic Cancer Ingasebenza Emindeni
Njengombhalo wokugcina, qiniseka ukuthi ulandela indlela yokuphila yomdlavuza. Ezinye ze-khansela ezibonakala zigijima emindenini zingase zingabi nezakhi zofuzo futhi esikhundleni salokho ngenxa yokuchayeka okuvamile. Isibonelo singaba umndeni wabangewona abokubhema bonke abakha umdlavuza wamaphaphu. Esikhundleni salokhu kuba isixhumanisi sezakhi zofuzo, kungenzeka ukuthi bonke bavezwe ku-radon ekhaya.
Imithombo:
I-American Society of Clinical Oncology. I-Cancer.Net. I-Genetics of Cancer. Kubuyekeziwe ngo-08/2015. http://www.cancer.net/navigating-cancer-care/cancer-basics/genetics/genetics-cancer
Hall, M., Obeid, E., Schwartz S., Mantia-SMaldone, G., Forman, A., noMnu Daly. Ukuvivinya ngezifo zesifo somdlavuza wefa: I-BRCA1 / 2, i-Lynch syndrome, nangaphezulu. I-Gynecologic Oncology . 2016. 140 (3): 565-74.
I-National Cancer Institute. I-Genetic Genetics Sibutsetelo - I-Health Professional Version (PDQ). Kubuyekezwe 01/15/16. http://www.cancer.gov/about-cancer/causes-prevention/genetics/overview-pdq
I-National Cancer Institute. I-Genetics of Cancer. Kubuyekezwa 04/22/15. http://www.cancer.gov/about-cancer/causes-prevention/genetics
I-National Cancer Institute. I-Genetics ye-Cancer Prostate - I-Health Professional Version (PDQ). Kubuyekezwe 02/12/16. http://www.cancer.gov/types/prostate/hp/prostate-genetics-pdq