BRCA2 Gene Mutations uye Dambudziko reCancer muMarume nevakadzi

Ndeipi Cancers Inokonzerwa neBrCA2 Kuchinja Kwakaitwa uye Inowanikwa Sei?

Kana iwe wakadzidza kuti iwe unotakura BRCA2 mutenhe mutenhe, kana kana iwe unonetseka iwe unogona, iwe unoda kuziva chii? BRCA2 kuchinja kwemajeni kunogona kuwedzera mungozi yekenza yekubere pamwe nemamwe matumbo.

BRCA2 kuchinja-chinja kunowanzobatana pamwe chete nekuchinja kwe BRCA1, asi pane zvakawanda zvakasiyana-siyana. Kuchinja kwezvinhu zviviri kunoisa njodzi dzakasiyana-siyana pamucheche uye mucheche weavoan uye zvinosanganiswa nevana vakasiyana-siyana mune dzimwe nzvimbo dzomuviri.

Semuenzaniso, kenza yepancreatic inowanzonyoresa nekuchinja kwe BRCA2.

Kunzwisisa kusiyana kwezvinhu izvi kuchinja kunokosha pakunzwisisa nhoroondo yemhuri yako zvakare. Chiremba wako angave ane hanya zvikuru kana iwe uine hama yako yepedyo uyo aiva nekenza yemazamu uye uyo aiva nekenza yepancreatic kupfuura kana iwe waiva nekenza yengamera. Mukenza wepancreatic hauna kufanana nekenza yepamuviri, uye kana ichiitika musangano nekenza yemazamu inomutsa mureza unoratidza kuchinja kwe BRCA2 kunogona kuvapo.

Tsanangudzo

Kuongorora kwakakurumidza kwemajini kunogona kuita kuti BRCA ishanduke nyore kuchinja. DNA yedu yakaumbwa nemakromosomes 46, 23 kubva kumadzibaba edu uye 23 kubva kumadzimai edu. Zvitsva zvikamu zveDNA zvinowanikwa mumakromosomes anonyora nezvemabasa. Ivo vakaita segadziriro iyo muviri inoshandisa kuita mapuroteni. Aya mapurotini anobva ave nemhando yakawanda yemabasa kubva ku hemoglobin muropa rako rinobatanidza oksijeni, kukudzivirira kubva pamukenza.

Kuchinja-shanduka kunzvimbo dzemajeni akaora. Apo jini kana blueprint yakaodzwa, puroteni isina kukwana inogona kuitwa iyo isingashandisi saiyo iyo puroteni yakazara. Kune marudzi akawanda akasiyana-siyana emutsiriro we BRCA. Iko "kodeti" mumakemikari inopesana nehuwandu rwemashoko (inozivikanwa sezvigaro). Nyaya dzemashoko aya dzinoudza muviri wako kuti uise amino acid zvakasiyana kuti uite purotini.

Hazvisi zvisingawanzogadziriswa nheyo inobviswa (kubviswa kwekuchinja), dzimwe nguva imwe inowedzerwa, uye dzimwe nguva dzimwe nheyo dzezvigadziro dzakarongedzwa zvakare.

Nzira Yekuti Kanzera Inokonzerwa Sei?

I BRCA yegene ndiyo geni chaiyo inonzi chirwere chinodzvinyirira gene rine chirongwa cheproteins chinotibatsira kutidzivirira pakushaya kenza.

Kukuvadza (kushanduka kwezvinhu uye mamwe mararamiro anochinja) kunoitika muDNA yemasero edu zuva rimwe nerimwe. Kazhinji yenguva, mapuroteni (akadai seaya akanyorwa muBBRCA mumakumbo ekudzivirira zviyero) kugadzirisa kukanganisa kana kubvisa zera risati rasvika risati raenda kuburikidza nekugadzirwa kwekenza. Nekuchinja kweBCACA2, zvisinei, iyi proteine ​​haina kufanana, naizvozvo rudzi urwu rwekugadzirisa haruna kuitika (BRCA mapuroteni kugadzirisa kuputika mune DNA mbiri yakanyanyisa).

Kuwanda

Kuva ne BRCA mutation isinganzwisisiki. BRCA1 kuchinja-chinja kunowanikwa mune zvinenge 0.2 muzana yevanhu, kana kuti 1 muvanhu 500. BRCA2 kuchinja kune zvimwe zvakanyanya kuwanikwa uye kunowanikwa mu 0.45 muzana yevanhu, kana 1 mu 222 vanhu, kunyange zvazvo kune kusiyana mune zvidzidzo zvakasiyana. BRCA1 kuchinja kwakawanda kune avo veAshkenazi Jewish heritage, asi BRCA2 kuchinja kwezvinhu kunowanzosiyana.

Ndiani Anofanira Kuedzwa?

Parizvino, hazvikurudzirwi kuti kuongororwa kwe BRCA2 kuve vanhu vakawanda.

Pane kudaro, avo vane nhoroondo yemunhu kana yemhuri yekenza vangada kufunga nezvekuedzwa kana mhando nemhando dzekenza yakawanikwa zvinoratidza kuti kuchinja kunogona kuvapo. Dzidza zvakawanda pamusoro pekuti iwe unofanira kufunga kuongorora kwe BRCA .

Cancers Inokonzerwa Nokutsika

Kuva nechirwere che BRCA2 chakasiyana nekuchinja kweBCACA1 (izvo zvakave izvo Angelina Jolie aive nazvo uye zvinotaurwa kakawanda) uye inomutsa dambudziko rezvikamu zvakasiyana-siyana zvekenza. Parizvino, nguva iyo, ruzivo rwedu ruchiri kuwedzera uye izvi zvinogona kuchinja munguva. Cancers iyo inowanzoonekwa kuvanhu vane BRCA2 kuchinja kunosanganisira:

Kusiyana nehuwandu hwehutachiwana hwekenza yekoloni kune vamwe vanhu vane mutsauko we BRCA1, imwe yongororo haina kuwana chero ingozi yakawedzerwa kune avo vane BRCA2 kuchinja kwekunze kupfuura kwevanhu vakawanda. Dzimwe dzidzo dzakatsigira izvi kuwanikwa. Mitemo yekuongorora yakaratidza kuti vanhu vose vane kuongorora koronoscopy (kana kuenzanisa kuongororwa) pazera remakore makumi mashanu.

Vanhu vanogara mairi makopi maviri emutambo we BRCA2, mukuwedzera kune kanzerasi kumusoro, zvinowanzoita kuti zvirwere zvive zvakasimba muhuduku uye zvirwere zvakanyanya zvemyeloid yeukemia.

Kuchengetedza Ngozi Yokufa

Kune maitiro maviri akasiyana ekugadzirisa maitiro evanhu vane BRCA2 kuchinja kwezvinhu, izvo zviri zviviri zvakagadzirirwa kuderedza mukana wekuti munhu achafa kubva kune rimwe remararamiro ematambudziko:

Nzira dzakawanda dzinoshandiswa pakugadzirisa zvirwere kune kenza dzinosanganisira kuongorora kana kuperesa njodzi, asi pane imwe yero inogona kuita zvose. Colonoscopy inogona kushandiswa kuona kenza yekoloni mumatangi ekutanga. Zvinokwanisa, zvisinei, zvinoshandiswa kuderedza ngozi yekuti munhu awane kenza kana chirwere chekare chisati chawanikwa chikawanikwa uye chibviswa zvisati chava chakaipa.

Kuongorora nekurapa

Hatina maitiro ekuongorora kana kurapwa kwevamwe kanzira inobatanidza neBCACA mutations. Inotanga zvakare mukugadzirisa kusarudza nzira dzekuongorora uye kurapwa kwakanakisisa, saka zvakakosha kuva nechiremba ane ruzivo mukuchengeta BRCA mutation carrier. Ngatitarisei zvisarudzo nemhando yekenza.

Chirwere chepabonde

Ovarian Cancer

Prostate Cancer

Pancreatic Cancer

Shoko Rinobva

Vanhu vanotakura mutsauko we BRCA2 vane ngozi yakawanda yekuvandudza mhando dzakasiyana dzekenza. Kune zvimwe zveizvi, kune nzira dzekuongororwa dzinogona kubatsira munguva yekutanga kuonekwa, uyewo nzira dzokuvhiya uye dzokurapa nzira dzokuderedza dambudziko.

Zvechokwadi, mararamiro ane hutano haagoni kugadziriswa kana akabatanidzwa nechimwe chezvinhu izvi zvinochinja, sezvatinoziva kuti kuchinja kwe BRCA hakuiti kuti iwe uchawana kenza. Vanhu vazhinji vanobvunza nezvekuedza, asi panguva ino kuongororwa kunongorayirwa kune avo vane nhoroondo yemunhu kana yemhuri inoratidza kuti kuchinja kunogona kuvapo.

> Sources:

> American Society of Clinical Oncology Cancer.net. Hereditary Breast uye Ovarian Cancer. Updated 07/17. https://www.cancer.net/cancer-types/hereditary-breast-and-ovarian-cancer

> Leao, R., Price, A., naRachard Hamilton. Germline BRCA Mutation mu Male Carriers-Ripe for Precision Oncology. Prostate Cancer uye Prostatic Disease . 2017 Dec 14. (Epub mberi kwekudhinda).

> Maxwell, K., Domcheck, S., Nathanson, K. et al. Population Frequency of Germline BRCA1 / 2 Mutations. Nyaya yeCliniki Oncology . 2016. 34 (34): 4183-4185.

> National Cancer Institute. BRCA1 uye BRCA2: Ngozi yeKenza uye Kuongorora kweGenetic. https://www.cancer.gov/about-cancer/causes-prevention/genetics/brca-fact-sheet

> US National Library of Medicine. Genetics Home Reference. BRCA2 geni. Updated 01/23/18. https://ghr.nlm.nih.gov/gene/BRCA2