Ukuqonda i-Cancer Hereditary, i-Genetic Testing kunye neengozi
Yintoni ngempela umhlaza wesizalo? Ngokuthetha ngeemvavanyo zokuhlola i-genetic kunye "neengcambu zomhlaza zesifuba," abaninzi abantu baye baqala ukubuza ukuba umhlaza "ubhalwe kwienkwenkwezi." Ngoko ke, kubalulekile ukuqonda ukuba impawu eziphathekayo zemizimba zithetha ntoni, kunye nento ongayenza ukuze unciphise umngcipheko wakho ukuba unomdla wentsapho yomhlaza.
Yintoni i-Cancer ye-Hereditary okanye i-Genetic Predisposition?
Umhlaza womhlaza ubhekiselele kumagciwane angaphantsi kwamandla angaphezu kwamanye athile ngokusekelwe kwiimpawu zabo zofuzo.
Umhlaza womhlaza ngumdlavuza oye waphuhliswa ngenxa yokuguquka kwemfuza okanye enye into engafanelekanga yokuvelisa umzali kumntwana. Ifa lokuguqulwa kwesigidi akuthethi ukuba uya kuhlakulela umhlaza, kodwa ngokuqinisekileyo ukwandisa umngcipheko (xa uthelekiswa nomntu ongazalanga i-genetic mutation). Iintsholongwane ezenzeka kubantu abaneempawu ezingaqhelekanga zibizwa ngokuthi "i-cancer ".
I-Cancer ayizuze ilifa, kunoko, uzuze ifa lomzimba (okanye udibaniso lwezakhi zofuzo okanye ezinye izityalo ezingafaniyo ezifana nokutshintshela kunye nokulungiswa kwakhona) ezingakunceda ukuba ube nomhlaza, kwaye loo nto ingaba yincinci okanye inkulu kakhulu, kuxhomekeke kwimfuza ethile ezinye izinto ezinobungozi okanye ukudibanisa kwamajethi.
Ukuba negalelo lofuzo oluzuze ilifa elingakhokelela kumhlaza lithetha ukuba unayo " imfuyo " ngenxa yomhlaza- oko kukuthi, unomngcipheko ophezulu wokuba nomhlaza kunabantu bonke.
Ukuguquka kwemizimba kunye neCanscer
Kukho iintlobo ezimbini zokuguquka kwemfuyo engakhokelela kumhlaza:
- Utshintsho oluthile
- Utshintsho oluthile
Ukutshintshwa kwe-genetic kukhuthaza ukuphuhliswa komdlavuza, kodwa akusiyo yonke i-cancer efa, njengokuba amaninzi emdlavuza yimiba yokuguquka kwemizimba (ukuguqulwa kwezinto ezenzeka emva kokuzalwa).
Ngethuba lethu lokuphila, iigesi zethu ziqokelela ukuguqulwa komzimba ngenxa yokubonakalisa i- carcinogens (izinto ezibangela umdlavuza), kodwa nangenxa yeenkqubo eziqhelekileyo zokusetyenziswa kwamaseli:
- Njalo ixesha iseli lihlula, kufuneka lenze ikopi eyiyo yonke i-DNA kwiseli.
- Le DNA ingonakaliswa (iguqulwe) nje ngengozi ngexesha lokwahlula.
- Utshintsho olubangelwa ngethuba lokuhlukanisa yeso sizathu sokuba umdlavuza uba yinto eqhelekileyo kumntu omdala esiwafumanayo. Kwakhona sizathu sokuba ukutshabalalisa okungapheliyo, njengokwenene okwenzeka emlonyeni nasemaphungeni ngokubhema, kunokubangela umdlavuza.
- Uninzi lwexesha lo monakalo kwi-DNA, kulungiswe, okanye iseli ihamba kwinkqubo yokufa kweeselingi (apoptosis).
Isizathu sokuba sonke sifumana umdlavuza ngexesha lonke kukuba sinendlela yokulungisa umonakalo ongenakupheka owenzeka kwi-DNA yethu. Ezinye zeentsholongwane zethu zibizwa ngokuba yi-tumor suppressor genes. Ikhowudi yokuxhatshaza i-genetic code for proteins ezilungisa i-DNA eyonakaliswe kwiiseli zethu. Xa i-genetic suppressor geni iguqulwa, iyakhathalela iiprotheni ezingasebenzi kunye nokwenza lo msebenzi wokulungisa, kwaye iiseli ezonakalisiweyo zivunyelwe ukuba ziphile kwaye zanda kwaye ekugqibeleni ziba nesifo (umhlaza).
Yintoni ebangela ukuba iiKhansela zibe yiHereditary?
Umzali ngamnye udlulisela ikopi yamagciwane azo kumntwana ukuze umntwana azalwe eneefoto ezimbini zomzimba ngamnye emzimbeni wazo (enye evela kumama kunye noyise). Uninzi lwabantu luzalelwa ngamakhophi amabini aqhelekileyo yomzimba ngamnye, kodwa umntu onesiguqu esisigubileyo kwikhophi enye ye-tumor suppressor gene (esivame ukukhusela umdlavuza) uthetha ukuba umngcipheko wesifo somhlaza unyukile.
Iimbini ezimbini eziqhelekileyo zokuxhatshaza i-tumor ziyi-BRCA1 ne-BRCA2 zegesi. Amaninzi eentlobo ezahlukeneyo zokutshintshwa kwezinto kwi-BRCA1 kunye ne-BRCA2 zegesi ziye zachongwa, ezinye zazo zizimisele ukulimaza nokunyusa umngcipheko womhlaza xa izakhi zofuzo eziguqulwayo zidluliselwa kwimbewu.
Imbali Yentsapho Yomhlaza: Ngaba Usengozini?
Kubalulekile ukuba uqaphele ukuba kukho ezinye i-cancer ezinokuthi zininzi kunokuba ezinye zibe negalelo lomzimba. Kukho neekresela ezihamba kunye ngamaqela. Ngokomzekelo, ukuba umntu unomdla weentsapho zomhlaza wesifuba sokuqala kunye nezinye izihlobo ezinomdlavuza we-pancreatic ungayikrokra uguquko lwezityalo ze-BRCA2. Abantu abanomdlavuza wekoloni banomngcipheko omncinci wokwenza umdlavuza webele. Ekuqaliseni umngcipheko, abacebisi bezofuzo bajonga izinto ezininzi:
- Inani leentsapho ezinomdlavuza (zombini umdlavuza kunye nayiphi na umhlaza.)
- Iindidi zesifo somhlaza (njengoko kuphawuliwe ngaphambili, ezinye i-cancer ziyakwazi ukuqhuba kwintsapho kunabanye.)
- Udibaniso lweentsholongwane zomdlavuza - Akunakuqaphela ukuba udibaniso lwee-khansa lunokucingelwa ukuba lunomnxeba ophezulu lwezofuzo kunokuba amalungu angamalungu entsapho anomdlavuza kwenye indawo. Ngokomzekelo, ukuguqulwa kwezityalo ze-BRCA2 bekube yinto ebangela ukuba umdlavuza wesifuba isinye isiqhelo somhlaza, isifo somhlaza wesifo se-ovari kumnye, umhlaza wesifo se-prostate kwisithathu, kunye nomhlaza wesi-pancreatic kwi-4th. Intlangano enjengale nto inokuba yinkxalabo ngakumbi kunokufumana umdlavuza webele kwizihlobo ezithandathu okanye ezisibhozo. Oko kuthetha ukuthini ukuba wonke umntu kufuneka athathe imbali yentsapho enonophelo yomhlaza kwiintsapho zawo ukuxoxa kunye noogqirha babo.
- Umhlaza kunye nesini - Umzekelo wesini ochaphazela umngcipheko womhlaza ngumhlaza wesifuba, apho umdlavuza wesikhumba emadodeni kunokwenzeka ukuba ube nomzimba wofuzo kunomdlavuza webele kwabesetyhini.
- Inani leentsapho ezinezifo zibalulekile. Ngokuqinisekileyo, umngcipheko wokuvelisa umdlavuza wekolon uninzi xa umama wakho, umalume kunye nomzalwana wabo benesi sifo kunokuba abe nesinye sezi zalwane nesifo.
Ukuzaliswa kwimbali yakho yentsapho epheleleyo kunokukunceda ukuba ulinganise ukuba uzalwe ngumhlaza. Abanye abantu banokukhetha ukuphanda iimvavanyo zofuzo ukuze bazi ukuba baphethe i-genetic mutation. Kancinci, kwaye ngoku ukuba sinemivavanyo emininzi yemfuyo, wonke umntu kufuneka abhale imbali epheleleyo yomhlaza kwintsapho yabo eyongezelelweyo ukuba ihlolwe kunye nodokotela wabo wokunyamekela ngokusisigxina ngexesha lomzimba.
UkuCetyiswa ngeeGenesis nokuVavanywa
Kubalulekile ukuba ufumane ukululekwa ngezofuzo xa ucinga ukuhlolwa kofuzo. Esinye isizathu kukuba uqonde inkqubo yokuvavanya kunye neziphumo kwaye zilungiselelwe nayiphi na impendulo. Okubaluleke ngakumbi kukuba loo migaqo yengozi ingaqatshelwa apho kungabikho iimvavanyo ezikhoyo, kodwa ngokusekelwe kwimbali yedwa kunokucetyiswa ukuba unemvavanyo eyongezelelweyo yokuhlola.
Uvavanyo lwe-Genetic lungazwakala lulula njengolu vavanyo lwegazi olukhawulezayo, kodwa akulona olulula. Njengomzekelo okhawulezayo, ukuba unelungu lentsapho elinomdlavuza wesifuba kunye nokuguqulwa komnye kwi-BRCA2 gene, ukuguqulwa okwenziweyo kunokuhlolwa. Ngaphandle koko, iphaneli epheleleyo nje ukuvavanya zonke iinguqu kwi-BRCA2 igalelo yedwa ingabiza iindleko eziliwaka zeedola. Ukuqwalasela oku kuvavanyo olulodwa lomzimba, unokubona apho oku kuhamba khona.
Ngethuba kunye neprojekthi yokuzaliswa kwe-genome yomntu, olu hlobo lovavanyo lufanele luphuculwe, kodwa isayensi isele, ngeendlela ezininzi, ukususela ekuqaleni.
Ezinye iingongoma zokuqwalasela nokuxoxa nge-genetic counselor phambi kokuba uvavanyo lwemizimba luquka:
- Yintoni ongayenza kwaye wawuya kuziva njani ukuba ufunde ukuba unesifo semfuza ethile kwimeko ethile yomhlaza?
- Zichanekile kangakanani iziphumo?
- Uvavanyo lunixelela ntoni?
- Ziziphi iimida zovavanyo?
Ukuvavanya i-Genetic kunokukuxelela ukuba ulungelelaniso oluthile lokuguqula umzila onokukubeka kwelinye uhlobo (okanye ngaphezulu) lomhlaza. Kwiininzi zamanomdlavuza, kukho uloyiko lokuba iimvavanyo zofuzo ziya kunika abantu isiqinisekiso sobuxoki malunga nokungabi nengozi. Makhe sijonge kwii-khansa ezimbalwa.
Umhlaza webele: Ngaba i-Genetic?
Umhlaza wesifuba ngokuqinisekileyo usebenza kwiintsapho malunga neepesenti ezili-10 zeengcambu zebele zithathwa njenge "zofuzo."
Abantu abaninzi baqhelanise ne-BRCA1 / BRCA2 iinguqu zomzimba kunye nomhlaza wesifuba. Xa u-Angelina Jolie wayenomzimba wakhe wokukhusela ngenxa yesinye solu tshintsho, uluntu lwaba nomdla wokuvavanya la majethi. Ngelishwa, ukuvavanywa kwezi galethi akulula nje ngokuba kuthatha "uvavanyo lwegazi" njengoko kukho iindlela ezininzi apho i-BRCA1 ne-BRCA2 zegesi zingatshintshwa.
I-BRCA1 kunye ne-BRCA2 zixinzelelo zegciwane zengcinezelo. Ezi zakhi zefayili zizuzwe ngefomu yokuzimela, oko kuthetha ukuba zombini iikopi ze-gene yakho kufuneka zitshintshwe ukuze kukhuliswe umdlavuza webele. Ukuba ucinga ngokuvavanya, ungaphuthelwa ezi ngcamango nokuba ngaba awufanelekanga ukuba uvavanyo lwemizimba yesifo somhlaza.
I-genetics yomhlaza empeleni iyinkimbinkimbi kakhulu kunoko. Umzekelo, kukho utshintsho kwi-oncogenes - iigenjini ezinjengo-accelerator ukuqhuba imoto. Ngale ntshintsho, kunokufuneka ukuba kube yinguqu ekhompini enye (i-autosomal ephezulu). Ukongezelela, kukho ezinye izinto ezininzi kunye neendlela ezinzima ukujongana nazo apha, kwaye amaninzi emdlavuza abangelwa kukudibanisa kweenguqu ezininzi (kunye nemibandela embalwa ebalulekileyo) kubandakanya zombini i-oncogenes kunye neengcinezelo zentsholongwane zentlungu, kunye nokuguqulwa kwamanzi, kwakhona, okuvela emva kuzalwa.
Cancer Cancer
Umhlaza wesifo seprotate ungaphinde usebenze kwiintsapho, kwaye kubonakala ngathi unxibelelwano phakathi kweprotate kunye nomhlaza wesifuba .
Ukuba unomdla weentsapho ze-prostate, qiniseka ukuthetha nodokotela wakho. Ngokomzekelo, ukuhlolwa kwe-PSA kunokusindisa ubomi , kodwa akungenxa yolwazi olungalwaziyo. Umhlaza wesifo seprotate unomnxeba ophezulu we-genetic, ekubeni ingozi yomzuzwana we-prostate yomhlaza iqikelelwe ukuba iphezulu njengama-60 ekhulwini, nangona i-5 ukuya kwi-10 kuphela ecinga ukuba ihambelana nezifo ze-genetic susceptibility. Ukuba uyihlo okanye umzalwana unomdlavuza wesibeletho, umngcipheko wakho ungaphezu kwesibini kabomntu ongenayo intsapho yembali yesifo.
Ukubonakaliswa kwiCaron Cancer
Kukho izinto ezininzi zokuqonda ngomhlaza wekolon - okanye ezininzi "iintlobo" zezinto ezichaziweyo. Ngokubanzi malunga neepesenti ezingama-20 zabantu abahlakulela umdlavuza wekoloni banembali yentsapho yesi sifo. Ukuxhomekeka komdlavuza wesi-colon kungadluliselwa ngeendlela ezimbalwa:
- Unokuba nomlando weentsapho zomdlavuza wekoloni.
- Unokufumana isifo somhlaza wekoloni njengesiLynch syndrome (i-HNPCC) engekho i-polyposis yomdlavuza (i-HNPCC), i-familial adenomatous polyposis syndrome, okanye i-teenage polyposis syndrome .
- Unokuba nesifo esilumkileyo esibilweni esiphezulu kwintsapho yakho, njengesifo sikaCrohn okanye i-ulcerative colitis, leyo leyo inokuphakamisa umngcipheko wokuvelisa umdlavuza wekoloni.
Olunye umdlavuza kunye neGenetics
Eminye imithwalo yokufa engumdlavuza kwintsholongwane yamanomdla amaninzi kunye neengcingo ezininzi ngaphezu kwezo zikhankanywe ngasentla zinomzimba wezofuzo. Abantu abaninzi abaqaphele ingozi yemvelo, umzekelo, ukuba ama-55 ekhulwini lomngcipheko womntu ngenxa yezofuzo , okanye ukuba, abafazi abomsi abanokuguqulwa kwe-BRCA2 baye bafaka kabini umngcipheko wokuba nomdlavuza wamaphaphu . Oku kugxininisa ukuba kutheni kubalulekile ukuba uthethe ugqirha uze wabelane ngembali yolondolozo lweentsapho.
Ngaba i-Gene Test Test yenza ukuba ulahlekelwe ngumshuwalense wakho?
Umthetho we- Federal Health Portability and Accountability Act (i-HIPAA) uvimbela ukucalulwa kwabantu ngokusekelwe kwiimvavanyo zomzimba ngomhlaza malunga nokukwazi ukufumana i-inshorensi yempilo. Oku kuthetha, kubalulekile ukuqwalasela ukulungelelaniswa kweendlela zokuhlola iimvavanyo zentsholongwane ngokuphathelele kwizicelo zomshuwalense wezobomi kunye nezinye iimeko ezinokuthi unokubuzwa ngazo malunga novavanyo.
Ngaba i-Genetic Predisposition to Cancer Ihlale ibi?
Mhlawumbi loo ndlela yayiyindlela yokunyusa ibalulekileyo kunye neyokugqibela. Ngokuqinisekileyo, awufuneki ukuba uhlaselwe ngumhlaza, okanye uphethe i-gene edibene nomdlavuza. Kodwa ukuqonda ngomngcipheko wemvelo - kunye nokwenza okokuqonda - kunokukushiya kwindawo engcono kunokuba ungenayo ingozi. Kanjani?
Ipesenti ezili-10 zesifo somhlaza wesifuba sithathwa njenge-genetic, oku kuthetha ukuba i-90 ekhulwini ayikho. Ininzi yabasetyhini abaneenkcukacha zentsapho yomhlaza wesifuba banomdla kakhulu malunga nokuhlola kwaye ngokukhawuleza babone oogqirha ukuba benalo. Kwabo abangenayo imbali yentsapho, kunokubakho ukungabikho kokuqonda okufanayo okanye unokucinga ukuba mhlawumbi isilwanyana asikho nto kuba akukho nzala yentsapho. Kulo mbono, umfazi onelungelo lokufumana isiqhelo angathatha inyathelo ngokukhawuleza - kwaye unomdlavuza wakhe webele we-breast diagnostic at the stage of the disease - kungengowesifazane ongekho kwimbali yentsapho.
I-Can-Genetic Cancer ingaqhutyelwa kwiintsapho
Njengengxelo yokugqibela, qiniseka ukulandela indlela yokuphila yokukhusela umdlavuza. Ezinye iintsholongwane ezibonakala ngathi ziqhutyelwe kwiintsapho zingenakuba yizo zofuzo kuzo zonke indawo kwaye ngenxa yoko zichazwe ngokuqhelekileyo. Umzekelo uya kuba yintsapho yabantu abangabhemiyo bonke abahlakulela umhlaza wamaphaphu. Esikhundleni salolu luhlobo lwezofuzo, mhlawumbi bonke bavelele kwi-radon ekhaya.
Imithombo:
I-American Society ye-Clinical Oncology. Cancer.Net. Genetics of Cancer. Ukuhlaziywa ngo-08/2015. http://www.cancer.net/navigating-cancer-care/cancer-basics/genetics/genetics-cancer
IHolo, uM., Obeid, E., Schwartz S., Mantia-SMaldone, G., uMnumzane, A., noMnu Daly. Ukuhlolwa kwe-Genetic yesifo somdla wesizalo: I-BRCA1 / 2, i-Lynch syndrome, nangaphezulu. Gynecologic Oncology . 2016. 140 (3): 565-74.
National Cancer Institute. Ingqungquthela ye-Genetic Overview - I-Health Professional Version (PDQ). Ukuhlaziywa 01/15/16. http://www.cancer.gov/about-cancer/causes-prevention/genetics/overview-pdq
National Cancer Institute. Genetics of Cancer. Updated 04/22/15. http://www.cancer.gov/about-cancer/causes-prevention/genetics
National Cancer Institute. I-Genetics yeCataltic Cancer - I-Health Professional Version (PDQ). Ukuhlaziywa 02/12/16. http://www.cancer.gov/types/prostate/hp/prostate-genetics-pdq