Kuponeswa Kusiyana muHereditary Breast Cancer
Vanhu vazhinji vakave vaine hanya ne "genetic" kana kenza yepabonde. Tinoziva kuti mutsauko we BRCA unogona kuwedzera zvakanyanya dambudziko rako rekudzivirira kenza yepabonde. Asi kune avo vanowana kenza yemazamu , kuponesa kunofananidzwa sei nevaya vanokura kenza yepamu asi vasina mazamu emagetsi? Isu iye zvino tine zvidzidzo zvinoverengeka izvo zvakatarisa mubvunzo uyu.
Zvechokwadi, zvinotyisa kuziva kuti iwe unotakura chimwe chezvinhu izvi zvinochinja. Kana iwe wakatakura mutsauko we BRCA unogona kureva kuongororwa kwakawedzerwa, kukonzera mwoyo kushungurudza, uye kukura kwakanyanya kana kenza inofanira kukura. Asi kutsvakurudza kutsva pamusoro pekugara kwenguva refu nekuchinja uku kunogona kuderedza zvimwe zvekutya kwako.
Zvakakosha, zvisinei, kutarisa zvidzidzo zvachose zvakakwana. Dzimwe dzidzo dzakangotarisa vakadzi vechidiki. Vamwe vakatarisa panguva dzakasiyana-siyana pavanoongorora kupona. Uyezve vamwe vakaongorora kuti zvipi zvingashandise kuponesa zvakanyanya kune vakadzi vane mutsauko we BRCA.
Ngatitange nekuongorora kuchinja kwe BRCA, nei vachikosha mukukudzirwa kwekenza yepazamu, uye kuti mararamiro aya angasiyana sei neaya asina kodzero dzekenza yepamusoro, uye zvino taura pamusoro pezvatakadzidza kubva pakuona kwekupona.
BRCA Mutations-Definition uye Basa reBBRCA Genes
Tinoziva kuti kenza kazhinji inowedzera mushure mokutenderera kweDNA yechinja kuchinjwa kunoitika.
Majena edu akaita segadziro rinotakura chirongwa chemaprotini akaitwa mumitumbi yedu. Iro mirayiridzo inotungamirirwa majeni anounza mazano ekuita mapuroteni anobva kumakemikari anokanganisa zvokudya zvedu, kune mapuroteni anoshanda kuti atichengetedze tisina kenza.
Izwi rokuti mutation rinoreva chero rudzi rwekuparara kune DNA inoshandura kuumbwa kwayo.
DNA yedu yakaumbwa nemakromosomes 46, 23 kubva kumadzimai edu uye 23 kubva kumadzibaba edu. Zvisikwa, zvakare, zvikamu zve chromosomes zvinotakura mazano ekugadzira mapuroteni chaiwo. Aya mazano anoumbwa sechitsamba chemashoko (mabhesi maviri) ayo anoshandisa se code.
Kana mabhii (mabhesi) mujeni akanganiswa, mazano acho anogona kunge asina kururama uye saka ichange iri purogiramu yeprotini isina kukodzera. Dzimwe nguva zvigaro zvinowedzerwa (kuwedzerwa), dzimwe nguva zvinodzingwa (kubvisa mutations) uye dzimwe nguva zvinoshandiswa zvakare. (Panewo zvimwe zvimwe zvingaitika zvinogona kuitikawo). Chii chinoitika mushure mokunge kuchinjwa kwave kwakagara nhaka kana kuwanikwa munguva yevanhu vakuru, zvinoenderana nebasa rejeni chaiyo.
BRCA mazamu mapepa ane chiremera chinodzvinyirira majini . Vanyoresa mapuroteni anodzivisa kukura kwemamota akadai sekenza yemazamu nekenza yeavari. Kunyanya, BRCA maitiro ezvinyorwa zvinokonzera kukonzera kukanganisa kweDNA mumasero edu (ivo vanogadzira kuputika muDNA yakapetwa kaviri).
Rimwe nerimwe remasero edu rine majini maviri eBCA, kopi imwe kubva kuna amai vedu uye imwe kopi kubva kuna baba vedu. BRCA mazita ezvinyorwa zvinokonzeresa, zvinoreva kuti zvose maikoro ejeni anofanira kuchinjwa kuitira kuti kenza inopindirana nejeni mutation kukura.
Sezvo vanhu vakawanda vachigara nhaka imwe chete yemutachiona (iyi yakanyorwa seBrCA1 / 2), kuva nechirwere che BRCA kunowedzera mukana wako wekenza (inotakura chimiro chepabonde kune kenza) asi hazvirevi kuti iwe uchava nekenza. Kuti kenza ipe imwe yeropa rejeni inoda kuchinjwa. Iyi yechipiri inochinja inowanzowanikwa (kubva kuDNA kukanganisa nekuda kwezvakatipoteredza, kusarudzwa kwemararamiro, kana kushandiswa kwemaitiro emasero).
Zvinogona kuvhiringidza zvakanyanya patinotaura pamusoro pemhando idzi dzakasiyana-siyana, kunyange zvichitsanangura nei zvisingaiti kuti munhu wese ane mutsauko we BRCA ave nekenza.
Kuchinja kwezvinhu zviviri kunotungamirira kukenza yemvere mune vazhinji vevakadzi vari BRCA + uye kukura kenza yemazamu inosanganisira chirwere chemajeni-mutation uye kuchinjwa kunoitwa.
- Mushonga weGermany kana kuti kuchinja kwezvinhu (izvi zvinosanganisira kuchinja kweBBRCA sezvakakurukurwa pano) zvakapfuura kubva kuna amai kana baba kune mwana pamuviri.
- Somatic kana kuchinja-chinjwa kunowanikwa (kuchinja kunoitika semugumisiro weDNA kukuvara kwakabatana nemamiriro ezvinhu, mararamiro ezvimwe zvinhu, kana kunyange zviratidzo zvinowanzoitika mumasero) zvinoitika panguva ipi zvayo muupenyu hwemunhu.
(Kunewo maitiro anokonzerwa nekenza anonzi oncogenes ayo akagara nhaka muzvinyorwa zvekutsvaga zvekuti inoshandiswa chete kuitira kuti imwe chete ye mutered gene idikanwe kuendesa kukura kwekenza, asi izvi zvinopfuura kudarika kwenyaya ino).
Kunzwisisa kuchinja kweBCA
Kana uchitaura nezvekuda kwekuchinja kweBrCA, zvakakosha kuratidza kuti hatisi kutaura pamusoro pekushandurwa kwakananga kuDNA. Asi pane mazana emaitiro akasiyana-siyana umo mabhii e BRCA anogona kuchinjwa. Sezvakataurwa pamusoro apa, mazamu aya anogona kunge ane ruzivo rwekare (tsamba), chisingawaniki, kana zvigadziro zvinogona kugadziriswa neimwe nzira.
Kune dzimwe misiyano muhutano hwekenza pakati pe BRCA1 uye BRCA2 kuchinja-shanduka, pamwe chete nehuwandu hwemutauro uripo mune rimwe geni. Dambudziko rose rekenza yemazamu kuvakadzi vasina BRCA mutation inenge inenge 12 muzana. Kune avo vane mutsauko we BRCA1, muwandu wehuwandu hunosvika 55 kusvika ku65 muzana (uye inogona kuva yakakwirira se 87 muzana). Kune avo vane mutsauko we BRCA2, vanenge makumi mashanu nezana makumi mashanu kubva kuzana muzana yevakadzi vachava nekenza yepamu nezera remakore makumi manomwe.
Kenza yeOvarian inowanikwa inenge 1.3 muzana yevakadzi vose. Kune avo vane BRCA1 mutations, 39 muzana inotarisirwa kuve nekenza yevana, asi 11 kusvika ku17 muzana yevaya vane BRCA2 mutation ichawedzera chirwere.
Kune dzimwe kenza dzingave dzakabatanidzwa ne-BRCA mutations zvakare, zvakadai sekenza yeprotate, kenza yepancreatic, uye kunyange yemukenza yemapapu .
Kusiyanisa muBerechi Cancers muvakadzi Ne BRCA mutations
Kune dzimwe misiyano mumakondombera emucheche pakati pevakadzi vane BRC mutations uye avo vasina zvinhu izvi zvinochinja. Izvi zvakakosha sezvo mamwe emakakatanwa aya angakonzera kusiyana kwekugara.
BRCA mutations inowanzozivikanwa kuvakadzi vaduku vanoita kenza yemazamu. Kune avo vari pasi pemakore makumi mana, zvinofungidzirwa kuti zvinopfuura gumi zvezana zvekenza zvinosanganiswa nekuve BRCA yakanaka. Kusiyana neizvi, nhamba iri pedyo ne5 muzana yevakadzi vakwegura vane chirwere.
Kanzira yepabonde muvakadzi vane BRCA mutations inowanzove nekenza ine kamukira yepamusoro . Tumor grade ndiyo imwe yehutsinye hwechiremera.
Mishonga yekenza yevakadzi muine BRCA mutations (kunyanya BRCA1 mutations) haigoni kuva nesrogen receptor kana progesterone receptor positive. Ivo havashomawo kuva HER2 akanaka . Hormone receptors , pamwe chete neHER2, inogamuchirwa pamusoro pekenza yengamera yepamuti iyo isrogen kana kukura zvinhu zvinosungiridzira kutungamirira kenza yekenza.
Mune mamwe mazwi, " kanhamba katatu " haikwanisi kufanana nevakadzi vane BRCA mutations. Muzhinji, kanhatu dzisina mazamu emakondomu anonyanya kuoma kurapa, sezvo mishonga yeHarmonal kana HER yakatarwa inenge ichishanda.
Pamusoro pezvinyorwa zvakanaka, makondomu ezviyo muvakadzi vane BRCA mutations inowanzopindura zvakanakisisa neoadadvant chemotherapy (chemotherapy inopiwa vasati vavhiyiwa) kupfuura avo vasina migumisiro iyi.
BRCA Mutations vs. Non-BRCA Chirwere Chechirwere Chechirwere (BRCAX)
Zvinowanzovhiringidza kutaura pamusoro pekuchinja kwe BRCA uye kenza yepabonde . BRCA mutations ndeye chikonzero chekenza yepamuviri yepamuviri asi haisi yose yekenza yepamusoro yekamu inokonzerwa nekuchinja kwe BRCA. Pasi pose, kuchinja kweBBRCA kunokonzera 20 kusvika ku25 muzana yemakemikari anowanikwa nevana uye 5 kusvika ku10 muzana yekenza yepamuviri yose.
Hereded breast cancer is not related to mutations BRCA inonzi haina-BRCA yemhuri yekenza yemukomana kana BRCAX. Gene kuchinja kunoenderana nekenza yemvere kunosanganisira avo vari muATM CDH1, CHEK2, PALB2, PTKN, STK11, uye TP53. Pano pane vakawanda vakawanda vakamirira kuwanikwa, asi tsvakurudzo ichiri muzvikamu zvekutanga.
Kuponeswa Nayo uye Pasina BRCA Mutation (Chidzidzo 2018)
Kana uchitaura nezvekupona neBBRCA kuchinja kwezvinhu zvakakosha kuziva kuti tiri kutaura pamusoro pezviverengero. Isu tine ruzivo rwekuti "chiyero" munhu ane "chiyero" che BRCA chingashandurwa sei uye zvinoguma nei. Asi sezvo pane zvakawanda zvakasiyana-siyana mukuchinja kwezvinhu izvi, uye vanhu vanosarudza nzira dzakasiyana dzekutarisira kenza yavo, nhamba hazvirevi kutaurira matambudziko evanhu. Vanhu havasi mashamba.
Chidzidzo che 2018 chakabudiswa muLancet Oncology chave chiri chidzidzo chikuru kukuenzanisa kuponesa kwepabonde kwevaya kune vane mutsauko we BRCA kune avo vane kenza yemazamu epora. mukurarama nekenza yebonde inobatana nekuchinja kwe BRCA.
Iboka revakadzi vane makore makumi mana nemasere rakateverwa kwemakore gumi, uye kupona kwakarongerwa kune imwe, mashanu, uye makore gumi mushure mekunge vaongororwa. Mushure memazana gumi, kuponeswa kwevaya vakanga vari BRCA uye BRCA dzakaipa zvakanga zvakafanana. Kutaura zvazviri, mumakore mashomanana ekutanga, avo vane BRC mutations uye katatu kanakonzerwa nekenza yepamu yakave nemigumisiro yakanaka kune avo vakange vane zvirwere zvitatu zvisina kunaka. Vaya vaiva neRCCA kuchinja-chinja kwaive nekodzero yekuve nehuviri hwemastectomy, asi kwakanga kusina kusiyana kune kuparara pakati pevaya vaiva ne-mastectomy kana lumpectomy nemirairo.
Kukanganisa uye Kuenzanisa Nezvimwe Zvidzidzo zveBrCA Zvokupona
Chidzidzo che 2018 chakataurwa pamusoro apa chakanga chiri kukurudzira asi chakange chiine kukwana kwepamusoro pachitarisa kurarama ne BRCA yakashandura makondomu ezere.
Zera: Kuongorora kwakarongedza chete vakadzi vari pasi pemakore makumi mana, uye pane zvimwe zvakasiyana pakati pevakadzi vechidiki vane kenza yebonde uye vakwegura vakadzi vane chirwere. Hatizivi kana izvi zvingave zvakafanana kana vakadzi vakwegura vachienzaniswa.
Nguva yekudzidza: Chimwe chinetso nekudzidza 2018 ndechokuti yakangotevera vakadzi kwemakore gumi. Vakadzi vane BRCA mutations vanowanzoita kuti vawane kenza yechipiri yepamu mune imwe mvere iyo inogona kuita musiyano mushure memakore gumi ekudzidza.
Kudzidza kwenguva refu kwakatevedzera vakadzi vane kenza yepamuvako-kutanga (danho 1 ne2) uye BRCA1 uye BRCA2 kuchinja kwemakore kwemakore makumi maviri kwakaratidza kuwedzera kukurumbira kuvakadzi vaiva nehutachiwana hwemastectomi (kubviswa kwebasa risina kenzawo). Kutaura zvazviri, kuva nechirwere chepachiviri chemastectomy kwakagadzirisa dambudziko rekufa nekuda kwevakadzi ava munguva yepakati pemakore gumi nemakumi maviri mushure mekunge vasati vatariswa.
Vakawanda vekufa panguva iyoyo vaiva pakati pevanhu vakagadzira chechi yechipiri yepamuti yepabonde mune rimwe remaitiro (contralateral). Ivhareji yenguva yakareba pakati pekugadzirwa kwekenza yekutanga yebonde uye yechipiri (isina kubatana) kenza yepamu yaiva makore 5.7. Ichi chidzidzo chakasimbisa pfungwa yokuti kuongorora nzira dzakanakisisa dzokurapa kunogona kuongorora zvidzidzo zvenguva refu.
Rudzi rwekuvhiya : Rudzi rwekuvhiya mukadzi ane BRCA mutation undergoes, sezvakataurwa mubhuku rakapfuura pamusoro, rinogona kuita mutsauko. Muchidzidzo cha2018, pakanga pasina kupesana mukupukunyuka pakati pevanhu vaiva ne lumpectomy kana avo vakange vane mastectomy kana kaviri mastectomi. Izvi zvingave zvakasiyana kana vakadzi vakateverwa kupfuura makore gumi. Sezvo vazhinji vevakadzi ava vangatarisirwa kurarama makumi mashoma emakore, izvi zvakakosha kucherechedza.
Mimwe mishonga inogona kuchinja kuponesa. Chidzidzo che2013 chakatorawo kuti kupona kwakange kwakafanana pakati pe BRCA uye vakanaka ve BRCA mumakore gumi. Icho chidzidzo chakawana, zvisinei, kuti kuvakadzi vane BRCA1 kuchinja uye kenza yepabonde yepabonde, kubvisa mavhai uye fallopian tubes (oophorectomy) yakavandudza kupona. Zvimwe zvidzidzo zvakare zvakaratidza izvi kubudirira mukupona ne oophorectomy.
Kuedzwa kwekuchinja : Sezvambotaurwa, kuongorora kwemajini kunenge kuchiri mucheche. Ikoko kunogona kunge kwakave nemigumisiro yenhema mukudzidza semhando dzakasiyana dzekuedza dzaishandiswa.
Zvimwe zvinokonzera njodzi : Imwe yongororo yakawana kuti maitiro ekupona kwekenza yemazamu akanga ari akakwirira kune avo vaiva neBARCA mutations asi pane zvishoma zvisiri izvo. Vakadzi veAshkenazi Jewish heritage uye avo vane kenza yepamusoro yepabonde vaiva nekusara kwemazinga kana BRCA yakanaka.
Vakasununguka: Ongororo ye 2018 yakataurwa pamusoro pevaya vasina kenza yepabonde. Zvakakosha kuziva kuti chinangwa chekudzidza ndechekutarisa kupona kune vakadzi vakanga vatova nekenza yebonde uye kuchinja kweBBRCA. Ichi chidzidzo chakanga chisiri kutarisa "vanopukunyuka," izwi rinoshandiswa kurondedzera vakadzi vane mutsauko we BRCA vari pangozi asi vasati vambova nekenza yepabonde.
Shoko Rinobva
Vanhu vazhinji vakabvunza kana avo vane mutsauko we BRCA vane kusiyana kwekupona kune avo vane kenza yevasati isina nhaka. Chidzidzo che 2018 chaive chichikurudzira mune dzimwe nzira, asi nguva yakareba yekuongororwa inodiwa kuziva zvechokwadi kana kune kusiyana kwakasiyana uye nekutsvaga nzira dzakanakisisa dzokurapwa kwevakadzi vane BRCA vane kenza yakanaka yepamu. Ichokwadi kuti pane zvakawanda zvisingagoni kupona zvinofanira kuongororwa pachitarisa mishonga.
Tichitarisa zvidzidzo izvi, zviri pachena kuti tine zvakawanda zvokudzidza nezvekenza yepabonde. Kutaura zvazviri, isu tichiri kuziva zvishoma nezvisiri zve BRCA zvine chokuita nekuchinja kwemajeni uye ngozi yekenza yemazamu.
Kana wakamboonekwa nekenza yemazamu, tora nguva yekutsvaga kenza yako . Nemishonga inoshanduka zvakakurumidza zvakakosha kuti munhu wose ave mutungamiri wega muchecheche yavo yekenza . Mukadzi mumwe nomumwe akasiyana uye kurapa kwakanakisisa kune mumwe mukadzi kungave kusina kufanana kune mumwe. Zvakakosha kuti mukadzi mumwe nomumwe aone kuti ane chirwere chokusarudza kurapwa kwakanakisisa kwaari oga uye kukudza zvaanoda.
> Sources:
> Baretta, Z., Mocellin, S., Goldin, E., Olopade, O., uye D. Huo. Migumisiro yeBrCA Germline Mutations paBeast Cancer Prognosis: Kugadziriswa kwakarongeka uye Meta-Kuongorora. Medicine (Baltimore) . 2016. 95 (40): e4975.
> Copson, E., Maishman, T., Tapper, W. et al. Germline BRCA Mutation uye Chibereko muKana-Onset Breast Cancer (POSH): A Prospective Cohort Yokudzidza. Lancet Oncology . Yakabudiswa 11 January 2018.
> Metcalfe, K., Gershman, S., Ghadirion, P. et al. Contralateral Mastectomy uye Kupona Mushure meKenza Yebonde Mukutakura kwe BRCA1 uye BRCA2 Kuchinja-chinja: Restrospective Analysis. BMJ . 2014. 348: 226.
> Metcalfe, K., Lynch, H., Foulkes, W. et al. Migumisiro yeOophorectomy Mukupona Mushure meKenza Breast muBrCA1 uye BRCA2 Mutation Carriers. JAMA Oncology . 2015. 1 (3): 306-13.
> Templeton, A., Gonzalez, L., Vera-Badillo, F. et al. Kukurukurirana pakati peHormonal Receptor Status, Age uye Kuponesa mu Murwere ne BRCA1 / 2 Germline Mutations: Ongororo yeChirongwa uye Meta-Regression. PLoS One . 2016. 11 (5): e0154789.