Ciwon Daji

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Ciwon Daji
Description (en) Fassara
Iri Sankara, Dalilan Ciwon Daji, Ciwon Kwayoyin Halitta, rare genetic disease (en) Fassara, neoplastic syndrome (en) Fassara
inherited tumor (en) Fassara
Specialty (en) Fassara Oncology
Identifier (en) Fassara
MeSH D009386
Iyali adenomatous polyposis ciwo ne na kansa wanda a cikinsa akwai ɗaruruwa zuwa dubbai na adenoma mara kyau a cikin hanji .

Ciwon daji, ko ciwon daji na iyali, cuta ce ta kwayoyin halitta wanda gadaje maye gurbi a cikin daya ko fiye da kwayoyin halitta ya sa wadanda abin ya shafa ga ci gaban ciwon daji kuma yana iya haifar da farkon farkon wadannan ciwon daji. Ciwon daji sau da yawa yana nuna ba kawai babban haɗarin kamuwa da cutar kansa ba, har ma da haɓakar ciwace-ciwacen farko masu zaman kansu.[1]

Yawancin waɗannan cututtukan suna haifar da maye gurbi a cikin ƙwayoyin cuta masu hana ƙari, kwayoyin halittar da ke da hannu wajen kare tantanin halitta daga juyewar kansa. Sauran kwayoyin halittar da za a iya shafa su ne kwayoyin gyaran DNA, oncogenes da kwayoyin da ke cikin samar da jini ( angiogenesis ). [2] Misalai na gama-gari na ciwon daji da aka gada sune ciwon daji na nono-ovarian na gado da ciwon daji marasa polyposis colon cancer (Lynch syndrome).[3][4]

Fage[gyara sashe | gyara masomin]

Ciwon daji na gado yana ƙarƙashin kashi 5 zuwa 10 cikin ɗari na duk cututtukan daji kuma akwai nau'ikan ciwon daji sama da 50 waɗanda za a iya gane su.[5] Fahimtar ilimin kimiyya game da cututtukan ciwon daji na haɓakawa sosai: ana samun ƙarin cututtukan cututtuka,[6] ilimin halitta yana ƙara bayyana, kuma gwajin ƙwayoyin cuta yana inganta ganowa, jiyya, da rigakafin cututtukan daji.[7] Idan aka yi la’akari da yawaitar ciwon nono da ciwon hanji, cututtukan da aka fi sani da su sun haɗa da ciwon daji na nono-ovarian na gado da kuma ciwon daji marasa polyposis colon cancer (Lynch syndrome).[6]

Wasu cututtukan da ba a saba gani ba suna da alaƙa mai ƙarfi tare da cututtukan cututtukan daji na gado. Ya kamata a yi la'akari da gwajin kwayoyin halitta tare da adrenocortical carcinoma ; ciwon daji na carcinoid ; yaduwa ciwon daji ; tube fallopian / ciwon daji na peritoneal na farko; leiomyosarcoma ; medullary thyroid ciwon daji ; paraganglioma / pheochromocytoma; ciwon daji na koda na chromophobe, hybrid oncocytic, ko oncocytoma histology; ciwon daji na sebaceous ; da ciwace-ciwacen jima'i tare da tubules na annular.[6] Likitocin kulawa na farko na iya gano mutanen da ke cikin haɗarin kamuwa da ciwon daji na gado.[8]

Genetics na ciwon daji[gyara sashe | gyara masomin]

Misalin ginshiƙi na gadon gado na autosomal. Yawancin ciwon daji ana gadonsu ta wannan hanyar.
Mafi qarancin, ciwon daji ana gadon su ta hanyar da ba ta dace ba. A cikin wannan misalan ginshiƙi na ƙabilar mutum ɗaya tilo da zai sami ƙarin haɗarin cutar kansa shine namijin ɗan luwadi a cikin ƙarni na biyu; duk da cewa akwai masu dauke da kwayoyin halitta da yawa.

Kwafi biyu na kowane kwayar halitta suna nan a cikin dukkan sel na jiki kuma kowannensu ana kiransa allele . Yawancin ciwon daji na ciwon daji ana yaɗa su ta hanyar ƙwararrun ƙwararrun ƙwayoyin cuta . A cikin waɗannan lokuta, allele guda ɗaya kawai dole ne ya kasance a wurin don mutum ya sami yanayin cutar kansa. Mutanen da ke da allele guda ɗaya na al'ada da kuma allele ɗaya mara kyau ana kiran su heterozygous . Mutum mai heterozygous da mutumin da ke da allura biyu na al'ada ( homozygous ) za su sami damar 50% na haifar da yaron da abin ya shafa.[9] An san maye gurbin da ke cikin kwayoyin halittar da aka gada a matsayin maye gurbi na germline da kuma ƙarin maye gurbi a cikin al'ada na al'ada yana haifar da ci gaban ciwon daji. Wannan shi ake kira da Knudson ta biyu-hit hasashe, inda farkon bugu na kwayar halitta shine maye gurbi kuma bugun na biyu yana faruwa daga baya a rayuwa.[2] Kamar yadda kawai allele ɗaya ke buƙatar canzawa (kamar idan aka kwatanta da duka a cikin abin da ake kira "ciwon daji na lokaci-lokaci"), mutum yana da babbar dama ta bunkasa ciwon daji fiye da yawan jama'a.[ana buƙatar hujja]

Kadan sau da yawa, ana iya yaɗuwar ciwon siga a matsayin halin koma baya na autosomal . Dole ne a canza nau'ikan cututtukan da kuma da cutar kansa. Mutumin da ke da allale guda biyu ana kiransa da homozygous recessive . Duk iyaye biyu dole ne su sami aƙalla kuskure guda ɗaya don yaro ya zama mai ɗaukar homozygous. Idan iyaye biyu suna da allele guda ɗaya da allele guda ɗaya ( heterozygous ) to suna da damar 25% na samar da ɗan luwaɗi na homozygous (yana da tsinkaya), 50% damar samar da ɗan heterozygous (mai ɗaukar kwayar cutar) da 25% damar haifar da yaro tare da alleles guda biyu na al'ada.[9]

Misalan cututtukan ciwon daji na autosomal sune autoimmune lymphoproliferative syndrome (Canale-Smith Syndrome), ciwon Beckwith-Wiedemann (ko da yake kashi 85 cikin 100 na lokuta na ɗan lokaci ne),[ana buƙatar hujja] -Dubé ciwo, Carney ciwo, familial chordoma, Cowden ciwo, dysplastic nevus ciwo tare da familial melanoma, iyali adenomatous polyposis, gadon nono-ovarian ciwon daji, gadon yaduwa na ciki ciwon daji (HDGC), Gada nonpolyectal cancer color . (Lynch ciwo), Howel-Evans ciwo na esophageal ciwon daji tare da tylosis, yara polyposis ciwo, Li-Fraumeni ciwo, mahara endocrine neoplasia type 1/2, mahara osteochondromatosis, neurofibromatosis type 1/2, babu basal-cell carcinoma ciwo (Gorlin ciwo). ), Peutz–Jeghers ciwo, Familial prostate ciwon daji, hereditary leiomyomatosis renal cell ciwon daji (LRCC), hereditary papillary renal ciwon daji, hereditary paraganglioma -pheochromocytoma ciwo, retinoblastoma, tuberous sclerosis, von Hippel-Lindau cuta da kuma Wilm's tumor cuta .[10]

Misalan cututtuka na ciwon daji na autosomal sune ataxia-telangiectasia, Bloom syndrome, Fanconi anemia, MUTYH polyposis, Rothmund-Thomson ciwo, Werner ciwo da Xeroderma pigmentosum .[10]

Misalai[gyara sashe | gyara masomin]

Ko da yake ciwon daji yana nuna haɗarin ciwon daji, haɗarin ya bambanta. Ga wasu daga cikin waɗannan cututtuka, ciwon daji ba shine farkon fasalinsu ba.[ana buƙatar hujja]

Fanconi anemia[gyara sashe | gyara masomin]

Fanconi anemia cuta ce da ke da fa'idar bakan asibiti, gami da: farkon farawa da haɗarin ciwon daji; gazawar kasusuwa ; da rashin haihuwa . Babban bayyanar cututtuka na wannan cuta shine wadanda ke da alaka da hematopoeisis (samar da jini ta hanyar kasusuwa ); waɗannan sun haɗa da anemia aplastic, myelodysplastic syndrome da kuma m myeloid cutar sankarar bargo . Ciwace-ciwacen hanta da squamous cell carcinomas na esophagus, oropharynx da uvula sune ciwace-ciwacen ciwace-ciwacen da aka danganta da FA. Abubuwan da aka haifa sun haɗa da: skeletal anomalies (musamman wadanda ke shafar hannu), cafe au lait spots da hypopigmentation . Har zuwa yau, kwayoyin halittar da aka sani suna haifar da FA sune: FANCA, FANCB, FANCC, FANCD2, FANCE, FANCF, FANCG, FANCI, FANCJ, FANCL, FANCM, FANCN, FANCO, FANCP da BRCA2 (wanda aka sani da FANCD1). Gadon wannan ciwo da farko shine recessive autosomal, amma FANCB za a iya gado daga uwa ko uba x-chromosome ( x-linked recessive gadon ). Hanyar FA tana da hannu wajen gyaran DNA lokacin da aka haɗa nau'i biyu na DNA ba daidai ba ( interstrand crosslinks ). Hanyoyi da yawa ana daidaita su ta hanyar FA don wannan ciki har da gyaran ɓangarorin nucleotide, fassarar fassarar da sake hadewar homologous .[11][12][13][14][15]

Familial adenomatous polyposis[gyara sashe | gyara masomin]

Familial adenomatous polyposis (FAP) wani ciwo ne mai rinjaye na autosomal wanda ke ƙara haɗarin kansar launin fata . Kusan 1 cikin 8000 mutane za su kamu da wannan cuta kuma tana da kusan 100% shiga . Mutumin da ke da wannan cuta zai sami ɗaruruwa zuwa dubbai na adenoma mara kyau a ko'ina cikin hanjin su, wanda a mafi yawan lokuta zai ci gaba zuwa ciwon daji. Sauran ciwace-ciwacen da ke karuwa a yawan sun hada da; osteomas, adrenal adenomas da carcinomas, thyroid ciwace-ciwacen daji da kuma desmoid ciwace-ciwacen daji . Dalilin wannan rashin lafiya shine maye gurbin APC gene, wanda ke shiga cikin tsarin β-catenin . Kuskuren APC yana haifar da β-catenin don tarawa a cikin sel kuma kunna abubuwan rubutun da ke cikin yaduwar kwayar halitta, ƙaura, bambance-bambance da apoptosis (mutuwar kwayar halitta).[16][17][18]

Gadon nono da ciwon daji na kwai[gyara sashe | gyara masomin]

Ciwon daji na ciwon nono-ovarian na gado cuta ce da ta mamaye ta ta hanyar maye gurbi na kwayoyin halittar BRCA1 da BRCA2 . A cikin mata wannan cuta da farko yana ƙara haɗarin nono da kansar kwai, amma kuma yana ƙara haɗarin kamuwa da cutar sankara na fallopian tube da papillary serous carcinoma na peritoneum. A cikin maza ana ƙara haɗarin cutar kansar prostate . Sauran cututtukan daji da ke da alaƙa da wannan ciwon sun haɗa da ciwon daji na pancreatic, kansar nono na namiji, ciwon daji na launin fata da kuma ciwon daji na mahaifa da cervix . Maye gurbin kwayoyin halitta sun kai kusan kashi 7% da 14% na ciwon nono da ovarian, bi da bi, kuma BRCA1 da BRCA2 ke da kashi 80% na waɗannan lokuta. BRCA1 da BRCA2 duka kwayoyin cutar ciwon tumo ne da ke da hannu wajen kiyayewa da gyara DNA, wanda hakan ke haifar da rashin zaman lafiyar kwayoyin halitta. Maye gurbi a cikin waɗannan kwayoyin halitta suna ba da damar ƙarin lalacewa ga DNA, wanda zai haifar da ciwon daji.[19][20]

Gadon ciwon daji mara polyposis[gyara sashe | gyara masomin]

Ciwon daji wanda ba shi da polyposis na gado, wanda kuma aka sani da cutar Lynch, ciwo ne na kansa wanda ya mamaye kansa wanda ke ƙara haɗarin kansar launin fata. Ana haifar da maye gurbi a cikin kwayoyin halittar DNA mismatch gyara (MMR), musamman MLH1, MSH2, MSH6 da PMS2 . Bugu da ƙari, ciwon daji na launin fata da yawa sauran ciwon daji suna karuwa a mita. Wadannan sun hada da; ciwon daji na endometrial, ciwon ciki, ciwon daji na ovarian, ciwon daji na ƙananan hanji da ciwon daji na pancreatic . Ciwon daji na hanji wanda ba shi da polyposis kuma yana da alaƙa da farkon farawar kansar launin fata. Kwayoyin halittar MMR suna da hannu wajen gyara DNA lokacin da tushe akan kowane madaidaicin DNA ba su daidaita ba. Ƙwayoyin halittar MMR marasa lahani suna ba da damar ci gaba da sakawa da goge maye gurbi a yankuna na DNA da aka sani da microsatellites . Waɗannan gajerun jerin DNA masu maimaitawa sun zama marasa ƙarfi, suna haifar da yanayin rashin zaman lafiya na microsatellite (MSI). Ana samun maye gurbin microsatellites sau da yawa a cikin kwayoyin halittar da ke da hannu wajen farawa da ci gaba, kuma MSI na iya inganta rayuwar sel, wanda zai haifar da ciwon daji.[4][21][22][23]

Kodayake yawancin cututtukan anemia na Fanconi ana gadar su ta hanyar dawo da kai, waɗanda FANCB ke haifarwa ana gadonsu ta hanyar gado mai alaƙa da x. Wannan misalan ginshiƙi na ƙayyadaddun tsarin gado na Fanconi anemia mai alaƙa da X zai iya faruwa ta ƙarni da yawa.

Paraganglioma-pheochromocytoma ciwo na gado[gyara sashe | gyara masomin]

Yawancin lokuta na paraganglioma na iyali suna haifar da maye gurbi a cikin succinate dehydrogenase (succinate: ubiquinone oxidoreductase) ƙananan kwayoyin halitta ( SDHD, SDHAF2, SDHC, SDHB ).

PGL-1 yana da alaƙa da maye gurbin SDHD, kuma yawancin mutanen PGL-1 tare da paraganglioma sun shafi ubanni maimakon iyaye mata. PGL1 da PGL2 sun mamaye autosomal tare da bugawa . PGL-4 yana hade da maye gurbin SDHB kuma yana da alaƙa da haɗarin pheochromocytoma mafi girma, da kuma ciwon daji na renal cell da ciwon daji na thyroid wanda ba medullary ba.[24]

Li-Fraumeni ciwo[gyara sashe | gyara masomin]

Li-Fraumeni ciwo ne mai autosomal rinjaye ciwo da farko lalacewa ta hanyar maye gurbi a cikin TP53 gene, wanda ƙwarai yana ƙara haɗarin ciwon daji da yawa kuma yana da alaƙa sosai da farkon farkon waɗannan ciwon daji. Ciwon daji masu alaka da wannan cuta sun hada da; sarcomas nama mai laushi (sau da yawa ana samun su a cikin yara), osteosarcoma, ciwon nono, ciwon daji na kwakwalwa, cutar sankarar bargo da adrenocortical carcinoma . Mutanen da ke da ciwon Li-Fraumeni sau da yawa suna da cututtukan daji na farko masu zaman kansu da yawa. Dalilin babban nau'in asibiti na wannan cuta na iya kasancewa saboda wasu maye gurbi da ke gyara cutar. Sunadaran da aka samar ta hanyar TP53 gene, p53, yana da hannu a cikin kama sake zagayowar tantanin halitta, gyaran DNA da apoptosis . Ƙila p53 bazai iya aiwatar da waɗannan matakai yadda ya kamata ba, wanda zai iya zama dalilin samuwar ƙwayar cuta. Saboda kawai 60-80% na mutanen da ke da cutar suna da maye gurbi a cikin TP53, sauran maye gurbi a cikin hanyar p53 na iya shiga cikin ciwo na Li-Fraumeni.[25][26][27][28]

polyposis mai alaƙa da MUTYH[gyara sashe | gyara masomin]

polyposis mai alaƙa da MUTYH yana raba mafi yawan fasalulluka na asibiti tare da FAP; Bambance-bambancen shine cewa cuta ce ta autosomal recessive cuta ta hanyar maye gurbi a cikin kwayar gyaran DNA na MUTYH . Ciwon daji tare da ƙarin haɗari a cikin wannan cuta sune ciwon daji na launi, adenoma na ciki da adenoma duodenal.[16][29]

Micrograph yana nuna ciwon daji na odontogenic keratocystic, binciken gama gari a cikin ciwon basal cell carcinoma. H&E tabo .

Nevoid basal cell carcinoma syndrome[gyara sashe | gyara masomin]

Nevoid basal cell carcinoma ciwo, wanda kuma aka sani da Gorlin ciwo, ya kasan ce kuma wani autosomal rinjaye ciwon daji ciwo a cikin abin da hadarin basal cell carcinoma yana da yawa sosai. Cutar tana da alamun basal cell nevi, jaw keratocysts da skeletal abnormalities. Ƙididdiga na ciwon basal cell carcinoma na rashin lafiya ya bambanta, amma yana da kusan 1 a cikin 60000. Kasancewar basal cell carcinoma ya fi girma a fari fiye da mutane baƙi; 80% da 38%, bi da bi. Odontogenic keratocysts ana samun su a cikin kusan 75% na mutanen da ke da cutar kuma galibi suna faruwa a farkon rayuwarsu. Mafi yawan cututtukan kwarangwal suna faruwa a kai da fuska, amma sau da yawa wasu wuraren suna shafa kamar kejin haƙarƙari . Abubuwan da ke haifar da maye gurbi na wannan cuta yana faruwa a cikin kwayar halittar PTCH, kuma samfurin PTCH shine mai hana ƙari da ke cikin siginar tantanin halitta . Kodayake ainihin aikin wannan furotin a cikin ciwon basal cell carcinoma ba a san shi ba, yana da hannu a cikin hanyar siginar bushiya, wanda aka sani don sarrafa ci gaban kwayar halitta da ci gaba.[30][31]

Von Hippel-Lindau cuta[gyara sashe | gyara masomin]

Cutar von Hippel-Lindau cuta ce mai wuyar gaske, yanayin halitta mai ƙarfi da ke haifar da ɗaiɗaikun mutane ga ciwace-ciwace marasa kyau da marasa kyau. Mafi yawan ciwace-ciwacen daji a cikin cutar Von Hippel-Lindau sune tsarin juyayi na tsakiya da hemangioblastomas na retinal, carcinomas na renal fili, pheochromocytomas, ciwace-ciwacen ƙwayar cuta na pancreatic, cysts pancreatic, ciwace-ciwacen endolymphatic sac da epididymal papillary cystadenomas.[32][33] Cutar Von Hippel-Lindau ta samo asali ne daga maye gurbi a cikin kwayar cutar ta von Hippel-Lindau a kan chromosome 3p25.3.[34]

Xeroderma pigmentosum[gyara sashe | gyara masomin]

Xeroderma pigmentosum cuta ce ta autosomal recessive cuta wacce ke da hankali ga hasken ultraviolet (UV), haɓakar haɗarin kunar rana a jiki da haɗarin cututtukan fata . Haɗarin ciwon daji na fata ya fi sau 10000 fiye da na mutane na yau da kullun kuma ya haɗa da nau'ikan kansar fata da yawa, gami da melanoma da cututtukan fata waɗanda ba melanoma ba. Hakanan, wuraren da aka fallasa rana na harshe, lebe da idanu suna da haɗarin kamuwa da cutar kansa. Xeroderma pigmentosum na iya haɗuwa da wasu cututtuka na ciki da kuma ciwace-ciwacen daji.[ana buƙatar hujja] Baya ga ciwon daji, wasu sauye-sauyen kwayoyin halitta waɗanda ke haifar da xeroderma pigmentosum suna hade da neurodegeneration . Xeroderma pigmentosum na iya haifar da maye gurbin kwayoyin halitta a cikin kwayoyin halitta 8, wanda ke samar da enzymes masu zuwa: XPA, XPB, XPC, XPD, XPE, XPF, XPG da Pol η . XPA-XPF su ne enzymes gyare-gyaren cirewar nucleotide waɗanda ke gyara DNA mai lalacewa da hasken UV da kuskuren sunadaran zasu ba da damar gina maye gurbin da hasken UV ya haifar. Pol η shine polymerase, wanda shine enzyme wanda ke shiga cikin kwafin DNA. Akwai polymerases da yawa, amma pol η shine enzyme wanda ke yin kwafin UV mai lalacewa DNA. Maye gurbi a cikin wannan kwayar halitta zai haifar da kuskuren pol η enzyme wanda ba zai iya kwafin DNA tare da lalacewar hasken UV ba. Mutanen da ke da maye gurbi na wannan kwayar halitta suna da juzu'in XP; Cutar bambance-bambancen XP.[35][36]

DNA gyara lahani da ƙara haɗarin ciwon daji[gyara sashe | gyara masomin]

Yawancin ciwon daji na ciwon daji suna faruwa ne saboda raunin da aka gada a iya gyara DNA .[ana buƙatar hujja] gurbin da aka gada ya kasance a cikin kwayar halittar DNA, ko dai ba za a bayyana gene ɗin gyaran ba ko kuma a bayyana shi a wani tsari da aka canza. Sa'an nan aikin gyaran zai iya zama kasala, kuma, saboda haka, lalacewar DNA za ta yi taruwa. Irin wannan lalacewar DNA na iya haifar da kurakurai yayin haɗin DNA wanda ke haifar da maye gurbi, wasu daga cikinsu na iya haifar da ciwon daji. Gyare-gyaren DNA na gyaran layin Germ wanda ke ƙara haɗarin kansa an jera su a cikin Tebur.

Gadon DNA na gyara maye gurbi wanda ke ƙara haɗarin kansa
Halin gyaran DNA Protein Hanyoyin gyara sun shafi* Ciwon daji tare da ƙarin haɗari
ataxia telangiectasia ya canza ATM Maye gurbi daban-daban a cikin ATM yana rage HRR, SSA ko NHEJ cutar sankarar bargo, lymphoma, nono [37]
Bloom ciwo BLM HRR cutar sankarar bargo, lymphoma, hanji, nono, fata, huhu, canal audio, harshe, esophagus, ciki, tonsil, larynx, mahaifa
ciwon nono 1 & 2 Saukewa: BRCA1 HRR na shinge biyu na karya da gibin 'yar mata nono, ovarian
Fanconi anemia genes FANCA, B,C,D1,D2,E,F,G,I,J,L,M,N,O,P FANCA etc. HRR da TLS cutar sankarar bargo, ciwace-ciwacen hanta, daskararrun ciwace-ciwace wurare da yawa
Ƙwayoyin cutar daji marasa polyposis na gado MSH2 MSH6 MLH1 PMS2 MSH2 MSH6 MLH1 PMS2 MMR colorectal, endometrial, ovariain, gastrointestinal tract (ciki da ƙananan hanji, pancreas, biliary tract), urinary tract, kwakwalwa (glioblastomas), da fata (keratoacanthomas da kuma fata).

adenoma sebaceous

Li-Fraumeni ciwo na TP53 P53 Matsayin kai tsaye a cikin HRR, BER, NER kuma yana aiki a cikin amsawar lalacewar DNA don waɗannan hanyoyin kuma don NHEJ da MMR sarcomas, ciwon nono, ciwace-ciwacen kwakwalwa, da carcinomas adrenocortical
MRE11A MRE11 HRR da NHEJ nono
MUTYH MUTYH glycosylase BER na A haɗe tare da 8-oxo-dG colorectal, duodenal, ovarian, mafitsara da kuma ciwon daji na fata
Nijmegen breakage syndrome NBS (NBN) NHEJ ciwon daji na lymphoid [38]
Farashin NTHL1 Farashin NTHL1 BER don Tg, FapyG, 5-hC, 5-hU a cikin dsDNA Ciwon daji, ciwon daji na endometrial, ciwon duodenal ciwon daji, basal-cell carcinoma
RECQL4 RECQ4 Helicase mai yiwuwa yana aiki a cikin HRR basal cell carcinoma, squamous cell carcinoma, intraepidermal carcinoma
Werner Syndrome Gene WRN Werner Syndrome ATP-dependent helicase HRR, NHEJ, dogon faci BER sarcoma mai laushi, launin fata, fata, thyroid, pancreas
Xeroderma pigmentosum genes XPA, XPB, XPD, XPF, XPG Farashin XPB XPD Rubuce-rubucen da aka haɗe NER yana gyara rubutun da aka rubuta na kwayoyin halitta masu aiki da rubutu ciwon fata (melanoma da wadanda ba melanoma) [39]
Xeroderma pigmentosum genes XPC, XPE ( DDB2 ) XPC, XPE NER genomic na duniya, yana gyara lalacewa a cikin DNA da aka rubuta da ba a rubuta su ba ciwon fata (melanoma da wadanda ba melanoma) [40] [41]
XPV (wanda ake kira polymerase H) DNA polymerase eta (Pol η) Haɗin Fassara (TLS) ciwon daji (basal cell, squamous cell, melanoma) [42]
  • Ƙididdigar hanyoyin hanyoyin gyaran DNA sune HRR homologous recombinational gyara, SSA sub-hanyar HRR, NHEJ ba homologous karshen hadawa, BER tushe gyara gyara, TLS translesion kira, NER nucleotide excision gyara gyara, MMR mismatch gyara .

Binciken kwayoyin halitta[gyara sashe | gyara masomin]

Ana iya amfani da gwajin kwayoyin halitta don gano maye gurbin kwayoyin halitta ko chromosomes da ke wucewa ta cikin tsararraki. Mutanen da suka gwada ingancin samun maye gurbin kwayoyin halitta ba lallai ba ne a la'anta su don haɓaka cutar kansa da ke da alaƙa da maye gurbin, duk da haka suna da haɗarin kamuwa da cutar kansa idan aka kwatanta da yawan jama'a. Ana ba da shawarar cewa mutane su sami gwajin kwayoyin halitta idan tarihin lafiyar danginsu ya haɗa da: Iyali da yawa masu ciwon daji, wani a cikin danginsu wanda ya kamu da cutar kansa tun yana ƙanana ko kuma ta wata ƙabila .[7]

Misali na kai tsaye zuwa kayan gwajin kwayoyin halitta na mabukaci. Wannan kit ɗin ya fito ne daga kamfanin 'MyGene'.

Tsarin binciken kwayoyin halitta hanya ce mai sauƙi, mara lalacewa. Duk da haka, kafin a gwada kwayoyin halitta don maye gurbin mai haƙuri yawanci dole ne ya je wurin mai ba da lafiya kuma ya bi ta hanyar shawarwari daya-daya, inda suke tattauna tarihin kansa da na iyali na ciwon daji. Kwararren likita zai iya tantance yiwuwar majiyyaci ya sami maye gurbin kuma zai iya jagorance su ta hanyar gwajin kwayoyin halitta.[42] Yana da mahimmanci cewa wannan shawarwarin ya faru saboda yana tabbatar da cewa mutumin ya ba da izini don shiga gwajin kwayoyin halitta, ya sani kuma ya fahimci matakai, fa'idodi da iyakancewar hanya kuma ya fi sanin sakamakon sakamakon gwajin ji.[43] Ana iya yin gwajin ta hanyar amfani da ruwan jiki ko ƙwayoyin majiyyaci, wannan ya haɗa da; jini (wanda shine ya fi kowa), jini, ruwan amniotic har ma da sel daga ciki na bakin da aka samo daga buccal swab . Ana aika wannan kayan zuwa dakin gwaje-gwaje na musamman na kwayoyin halitta inda masu fasaha za su bincika shi, ana mayar da sakamakon gwajin zuwa ma'aikacin lafiya wanda ya nemi bincike kuma an tattauna sakamakon tare da mai haƙuri. [7]

Za a iya samun gwajin kai tsaye ga mabukaci ba tare da ƙwararren likita ba amma ba a ba da shawarar ba saboda mabukaci ya rasa damar tattauna shawararsu tare da ƙwararrun ilimi.[44] Dangane da Laburaren Magunguna na Ƙasa a cikin gwajin ƙwayoyin halittar Amurka a Amurka farashin farashi daga $100-$2000 ya danganta da nau'in da ƙaƙƙarfan gwaji. [45]

Ayyukan rigakafi[gyara sashe | gyara masomin]

Gwajin kwayoyin halitta yana da mahimmanci kamar idan gwajin ya fito tabbatacce sun fi sanin lafiyar kansu da lafiyar dangin dangi.[46] Tare da taimako da shawarwari daga kwararrun likitoci za su iya ɗaukar matakai don rage girman haɗarin ci gaban ciwon daji ta hanyar:

  • motsa jiki na yau da kullun
  • Abincin lafiya, daidaitacce
  • Kula da lafiyayyen nauyi
  • Ba shan taba ba
  • Kasance cikin aminci a ƙarƙashin hasken rana mai cutarwa[47]

Akwai wasu nau'o'in ayyukan rigakafi, misali ga nono na gado da kuma Ciwon daji na Ovarian zai kasance ta hanyar tiyata: A hysterectomy shine cire duk ko wasu daga cikin mahaifa, yayin da mastectomy yana cire nono ( mastectomy biyu ma'ana cewa nono biyu). an cire su), wannan na iya ƙara shekaru akan tsawon rayuwarsu .[48] Wani ma'auni na rigakafi shine gwajin cutar kansa na yau da kullun da kuma duba. Idan mutum yana da cutar Lynch to sai a yi masa tiyatar colonoscopy na yau da kullun don bincika idan akwai wani canji a cikin sel ɗin da ke rufe bangon hanji, an tabbatar da binciken akai-akai yana ƙara matsakaicin shekaru 7 akan tsawon rayuwar mutumin da ke fama da shi. daga cutar Lynch kamar yadda gano wuri da wuri yana nufin daidaitattun matakan rigakafi da tiyata za a iya ɗauka cikin sauri.[49] Ana kuma ba da shawarar duba nono akai-akai ga matan da aka gano suna da maye gurbi na BRCA, haka kuma, binciken da aka yi kwanan nan ya nuna cewa maza masu haɗarin kamuwa da cutar kansar prostate saboda maye gurbi na BRCA na iya rage haɗarinsu ta hanyar shan aspirin .[50] Aspirin yana da amfani sosai wajen rage yawan ciwon daji; duk da haka, dole ne a sha shi akai-akai sama da aƙalla tsawon shekaru biyar don yin tasiri.[51]

Yawaitar maye gurbi a cikin kabilu daban-daban[gyara sashe | gyara masomin]

Sau da yawa maye gurbi ya fi zama ruwan dare a wasu ƙabilu, wannan saboda jinsi na iya bin kakanninsu zuwa wuri ɗaya, rikitattun kwayoyin halitta daga kakanni sukan bi ta cikin tsararraki wanda shine dalilin da ya sa wasu ƙabilun suka fi kamuwa da maye gurbi, ta haka sai karuwa suke. yiwuwar kamuwa da cutar kansa [61]. Kamar yadda aka ambata a sama, wannan na iya zama da amfani saboda yana iya taimakawa ƙwararrun kiwon lafiya tantance haɗarin majiyyaci na maye gurbi kafin a gwada su.[42] Ciwon daji na Werner yana da yawan 1 cikin 200,000 masu rai a cikin Amurka, amma yana shafar mutane a Japan a cikin 1 cikin 20,000-40,000.[52] 1 a cikin 40 Ashkenazi Yahudawa suna da maye gurbi na BRCA, wannan babban bambanci ne daga yawan jama'a a Amurka inda 1 a cikin 400 ke shafar. Yahudawan Ashkenazi na cikin hatsarin kamuwa da ciwon nono na gado da kuma ciwon daji na kwai kuma ana ba da shawarar cewa su yi gwajin kwayoyin halitta don ganin ko suna da maye gurbi da kuma duba cutar kansa akai-akai.[53]

Duba kuma[gyara sashe | gyara masomin]

  • Tarin dangi

Manazarta[gyara sashe | gyara masomin]

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