Ukuhlolwa kwe-BRCA Genetic

-Delile

• Luyini uvivinyo lwe-BRCA genetic?
• Kusetshenziselwa ini?
• Kungani ngidinga ukuhlolwa kofuzo kwe-BRCA?
• Kwenzekani ngesikhathi sokuhlolwa kofuzo kwe-BRCA?
• Ngabe kukhona engizodinga ukukwenza ukulungiselela isivivinyo?
• Ingabe zikhona izingozi esivivinyweni?
• Isho ukuthini imiphumela?
• Ngabe kukhona okunye engidinga ukukwazi ngokuhlolwa kofuzo kwe-BRCA?
• Izinkomba

Luyini uvivinyo lwe-BRCA genetic?

Ukuhlolwa kwezakhi zofuzo kwe-BRCA kubheka ushintsho, olwaziwa njengokuguquka kwezakhi zofuzo, kuzakhi zofuzo ezibizwa nge-BRCA1 ne-BRCA2. Izakhi zofuzo ziyingxenye ye-DNA edluliselwe isuka kumama nobaba wakho. Ziphethe imininingwane enquma izici zakho ezihlukile, njengokuphakama nombala wamehlo. Izakhi zofuzo nazo zibhekene nezimo ezithile zezempilo. I-BRCA1 ne-BRCA2 yizakhi zofuzo ezivikela amaseli ngokwenza amaprotheni asiza ukuvimbela izicubu ekwakhekeni.

Ukuguquka kwesakhi sofuzo se-BRCA1 noma i-BRCA2 kungadala ukulimala kweseli okungaholela kumdlavuza. Abesifazane abanegciwane le-BRCA eliguqukile banengozi enkulu yokuthola umdlavuza webele noma we-ovari. Amadoda ane-gene eshintshiwe ye-BRCA asengozini enkulu yokuthola umdlavuza webele noma wendlala. Akuwona wonke umuntu ozuza ifa lokuguqulwa kwe-BRCA1 noma i-BRCA2 azothola umdlavuza. Ezinye izinto, kufaka phakathi indlela ophila ngayo nendawo ohlala kuyo, zingathinta ingozi yomdlavuza wakho.

Uma uthola ukuthi unokuguquka kwe-BRCA, ungakwazi ukuthatha izinyathelo zokuvikela impilo yakho.

Amanye amagama: Ukuhlolwa kofuzo lwe-BRCA, i-BRCA gene 1, i-BRCA gene 2, ukutholakala komdlavuza webele ufuzo1, isakhi sofuzo somdlavuza webele 2

Kusetshenziselwa ini?

Lokhu kuhlolwa kusetshenziselwa ukuthola ukuthi ngabe une-BRCA1 noma i-BRCA2 ukuguqulwa kwezakhi zofuzo. Ukuguqulwa kwezakhi zofuzo kwe-BRCA kungandisa ingozi yokuthola umdlavuza.

Kungani ngidinga ukuhlolwa kofuzo kwe-BRCA?

Ukuhlolwa kwe-BRCA akunconyelwe abantu abaningi. Ukuguqulwa kwezakhi zofuzo kwe-BRCA akuvamile, kuthinta kuphela amaphesenti angama-0.2 wabantu base-U.S. Kepha ungahle ufune lolu vivinyo uma ucabanga ukuthi usengozini enkulu yokuba noshintsho. Kungenzeka ukuthi ube nokuguquka kwe-BRCA uma:

• Unomdlavuza webele noma owatholwa ngaphambi kweminyaka yobudala engama-50
• Unomdlavuza webele noma unawo emabeleni womabili
• Unomdlavuza webele nowamaqanda womabili
• Yiba nelungu elilodwa noma amaningi omndeni onomdlavuza webele
• Yiba nesihlobo sowesilisa esinomdlavuza webele
• Yiba nesihlobo esivele sitholakele ngokuguquka kwezakhi ze-BRCA
• Abakwa-Ashkenazi (Eastern Europe) okhokho bamaJuda. Izinguquko ze-BRCA zivame kakhulu kuleli qembu uma kuqhathaniswa nabantu abaningi. Izinguquko ze-BRCA zivame kakhulu kubantu abavela kwezinye izingxenye zeYurophu, kufaka phakathi, i-Iceland, iNorway, neDenmark.

Kwenzekani ngesikhathi sokuhlolwa kofuzo kwe-BRCA?

Uchwepheshe wezempilo uzothatha isampula yegazi emthanjeni osengalweni yakho, esebenzisa inaliti encane. Ngemuva kokuthi kufakwe inaliti, kuzoqoqwa inani elincane legazi kufakwe ithubhu yokuhlola noma isitsha. Ungase uzizwe uluma kancane lapho inaliti ingena noma iphuma. Lokhu ngokuvamile kuthatha imizuzu engaphansi kwemihlanu.

Ngabe kukhona engizodinga ukukwenza ukulungiselela isivivinyo?

Awudingi amalungiselelo akhethekile wokuhlolwa kwe-BRCA. Kepha ungahle uthande ukuhlangana nomeluleki wezofuzo kuqala ukuze ubone ukuthi ukuhlolwa kukufanele yini. Umeluleki wakho angaxoxa nawe ngobungozi nezinzuzo zokuhlolwa kofuzo nokuthi imiphumela ehlukene ingasho ukuthini.

Kufanele futhi ucabange ngokuthola izeluleko zofuzo ngemuva kokuhlolwa kwakho. Umeluleki wakho angaxoxa ngokuthi imiphumela yakho ingakuthinta kanjani wena nomndeni wakho, kwezokwelapha nangokomzwelo.

Ingabe zikhona izingozi esivivinyweni?

Kunengozi encane kakhulu yokuhlolwa kwegazi. Ungaba nobuhlungu obuncane noma ukulimaza lapho kufakwe khona inaliti, kepha izimpawu eziningi ziyaphela ngokushesha.

Isho ukuthini imiphumela?

Imiphumela eminingi ichazwa njengeyi-negative, engaqinisekile, noma evumayo, futhi ngokujwayelekile isho okulandelayo:

• Umphumela ongemuhle kusho ukuthi akukho ukuguqulwa kwezakhi zofuzo kwe-BRCA okutholakele, kepha akusho ukuthi awusoze waba nomdlavuza.
• Umphumela ongaqinisekile kusho uhlobo oluthile lokuguqulwa kwezakhi zofuzo lwe-BRCA olutholakele, kepha kungahle kungaxhunyaniswa nengozi yomdlavuza eyandisiwe noma engaxhunywanga. Ungadinga ukuhlolwa okwengeziwe kanye / noma ukuqapha uma imiphumela yakho ingaqinisekile.
• Umphumela omuhle kusho ukuguqulwa kwe-BRCA1 noma i-BRCA2. Lezi zinguquko zikubeka engcupheni enkulu yokuthola umdlavuza. Kepha akuwona wonke umuntu onoguquko onomdlavuza.

Kungathatha amasonto ambalwa ukuthola imiphumela yakho. Uma unemibuzo ngemiphumela yakho, khuluma nomhlinzeki wakho wezokunakekelwa kwempilo kanye / noma umeluleki wakho wezofuzo.

Funda kabanzi mayelana nokuhlolwa kwelabhorethri, ububanzi bezinkomba, nemiphumela yokuqonda.

Ngabe kukhona okunye engidinga ukukwazi ngokuhlolwa kofuzo kwe-BRCA?

Uma imiphumela yakho ikhombisa ukuthi unokuguqulwa kwezakhi zofuzo kwe-BRCA, ungathatha izinyathelo ezinganciphisa ingozi yomdlavuza webele. Lokhu kufaka phakathi:

• Ukuhlolwa kokuhlolwa komdlavuza okuvamile, njengama-mammograms nama-ultrasound. Umdlavuza kulula ukuwelapha uma utholakala kusaqalwa.
• Ukuphuza amaphilisi okulawula ukubeletha isikhathi esilinganiselwe. Ukuphuza amaphilisi okulawula ukubeletha isikhathi esiyiminyaka emihlanu kukhonjisiwe ukunciphisa ubungozi besifo somdlavuza wesibeletho kwabanye besifazane abanezinguquko zofuzo ze-BRCA. Ukuphuza amaphilisi isikhathi esingaphezu kweminyaka emihlanu ukunciphisa umdlavuza akukhuthazwa. Uma ngabe ubephuza amaphilisi okulawula ukubeletha ngaphambi kokuthatha ukuhlolwa kwe-BRCA, tshela umhlinzeki wakho wezokunakekelwa kwezempilo ukuthi wawumdala kangakanani ngenkathi uqala ukuphuza amaphilisi nokuthi isikhathi esingakanani. Uzobe esencoma ukuthi kufanele uqhubeke nokuzithatha noma cha.
• Ukuthatha imithi elwa nomdlavuza. Izidakamizwa ezithile, njengalezo ezibizwa nge-tamoxifen, zikhonjisiwe ukunciphisa ubungozi kwabesifazane abanengozi enkulu yomdlavuza webele.
• Ukuhlinzwa, okwaziwa njenge-mastectomy yokuvimbela, ukususa izicubu zamabele ezinempilo. I-mastectomy yokuvimbela ikhonjisiwe ukunciphisa ingozi yomdlavuza webele ngamaphesenti angama-90 kwabesifazane abane-BRCA gene mutation. Kepha lokhu kungukuhlinzwa okukhulu, kunconyelwa kuphela abesifazane abasengozini enkulu yokuthola umdlavuza.

Kufanele ukhulume nomhlinzeki wakho wezokunakekelwa kwempilo ukuze ubone ukuthi yiziphi izinyathelo ezikulungele kakhulu.

Izinkomba

1. I-American Society of Clinical Oncology [i-Intanethi]. I-American Society of Clinical Oncology; 2005-2018. Igciwane Lesifuba Nomdlavuza Wesibeletho; [icashunwe ngo-2018 Mar 19]; [cishe izikrini ezi-3]. Kutholakala kusuka: https://www.cancer.net/cancer-types/hereditary-breast-and-ovarian-cancer
2. UHinkle J, Cheever K. Brunner & Suddarth's Handbook of Laboratory and Diagnostic Test. 2nd Ed, Kindle. IPhiladelphia: I-Wolters Kluwer Health, Lippincott Williams & Wilkins; c2014. Ukuhlolwa kwe-BRCA; 108 k.
3. Ukuhlolwa Kwelebhu Ku-inthanethi [i-Intanethi]. IWashington DC: I-American Association for Clinical Chemistry; c2001–2018. Ukuhlolwa Kokuguqulwa Kwezakhi ze-BRCA [kubuyekezwe ngo-2018 Jan 15; kukhonjiwe ngo-2018 Feb 23]; [cishe izikrini ezi-2]. Kutholakala kusuka: https://labtestsonline.org/tests/brca-gene-mutation-testing
4. IMayo Clinic [Inthanethi]. IMayo Foundation for Medical Education and Research; c1998–2018. Ukuhlolwa kofuzo lwe-BRCA ngengozi yomdlavuza webele nowama-ovari; 2017 Dec 30 [icashunwe ngo-2018 Feb 23]; [cishe izikrini ezi-3]. Kutholakala kusuka: https://www.mayoclinic.org/tests-procedures/brca-gene-test/about/pac-20384815
5. Isikhungo Somdlavuza Se-Memorial Sloan Kettering [Internet]. ENew York: Isikhungo Somdlavuza SeKettering Cancering Memorial; c2018. I-BRCA1 ne-BRCA2 Genes: Ingozi Yomdlavuza Webele kanye Ne-Ovarian [icashunwe ngo-2018 Feb 23]; [cishe izikrini ezi-5]. Kutholakala kusuka: https://www.mskcc.org/cancer-care/risk-assessment-screening/hereditary-genetics/genetic-counseling/brca1-brca2-genes-risk-breast-ovarian
6. Isikhungo Somdlavuza Kazwelonke [i-Inthanethi]. I-Bethesda (MD): UMnyango Wezempilo kanye Nezinsizakalo Zabantu e-U.S. Izinguquko ze-BRCA: Ubungozi Bomdlavuza Nokuhlolwa Kofuzo [kucashunwe ngo-2018 Feb 23]; [cishe izikrini ezi-3]. Kutholakala kusuka: https://www.cancer.gov/about-cancer/causes-prevention/genetics/brca-fact-sheet#q1
7. Isikhungo Somdlavuza Kazwelonke [i-Inthanethi]. I-Bethesda (MD): UMnyango Wezempilo kanye Nezinsizakalo Zabantu e-U.S. Isichazamazwi seNCI Semigomo Yomdlavuza: ukuguquka kwesimo [okushiwo ngo-2018 Feb 23]; [cishe izikrini ezi-3]. Kutholakala kusuka: https://www.cancer.gov/publications/dictionaries/cancer-terms/search?contains=false&q;=mutation
8. I-National Heart, Lung, ne-Blood Institute [i-Intanethi]. I-Bethesda (MD): UMnyango Wezempilo kanye Nezinsizakalo Zabantu e-U.S. Ukuhlolwa Kwegazi [kucashunwe ngo-2018 Feb 23]; [cishe izikrini ezi-3]. Kutholakala kusuka: https://www.nhlbi.nih.gov/health-topics/blood-tests
9. I-NIH U.S. National Library of Medicine: Isethenjwa Sasekhaya se-Genetics [Internet]. I-Bethesda (MD): UMnyango Wezempilo kanye Nezinsizakalo Zabantu e-U.S. Uhlobo lwe-BRCA1; I-2018 Mar 13 [icashunwe ngo-2018 Mar 18]; [cishe izikrini ezi-3]. Kutholakala kusuka: https://ghr.nlm.nih.gov/gene/BRCA1 # izimo
10. I-NIH U.S. National Library of Medicine: Isethenjwa Sasekhaya se-Genetics [Internet]. I-Bethesda (MD): UMnyango Wezempilo kanye Nezinsizakalo Zabantu e-U.S. Uhlobo lwe-BRCA2; I-2018 Mar 13 [icashunwe ngo-2018 Mar 18]; [cishe izikrini ezi-3]. Kutholakala kusuka: https://ghr.nlm.nih.gov/gene/BRCA2# izimo
11. I-NIH U.S. National Library of Medicine: Isethenjwa Sasekhaya se-Genetics [Internet]. I-Bethesda (MD): UMnyango Wezempilo kanye Nezinsizakalo Zabantu e-U.S. Luyini ufuzo ?; 2018 Feb 20 [kucashunwe 2018 Feb 23]; [cishe izikrini ezi-3]. Kutholakala kusuka: https://ghr.nlm.nih.gov/primer/basics/gene
12. I-University of Rochester Medical Center [i-Inthanethi]. URochester (NY): Isikhungo Sezokwelapha sase-University of Rochester; c2018. I-Health Encyclopedia: I-BRCA [icashunwe ngo-2018 Feb 23]; [cishe izikrini ezi-2]. Kutholakala kusuka: https://www.urmc.rochester.edu/encyclopedia/content.aspx?contenttypeid=167&contentid;=brca
13. I-UW Health [Inthanethi]. UMadison (WI): Izibhedlela zase-University of Wisconsin kanye neGunya Lemitholampilo; c2018. Ukuhlolwa Kofuzo Lomdlavuza Webele (BRCA): Ungazilungiselela Kanjani [kubuyekezwe ngo-2017 Juni 8; kukhonjiwe ngo-2018 Feb 23]; [cishe izikrini ezi-5]. Kutholakala kusuka: https://www.uwhealth.org/health/topic/medicaltest/breast-cancer-brca-gene-test/tu6462.html#tu6465
14. I-UW Health [Inthanethi]. UMadison (WI): Izibhedlela zase-University of Wisconsin kanye neGunya Lemitholampilo; c2018. Ukuhlolwa Kofuzo Lomdlavuza Webele (BRCA): Imiphumela [ibuyekezwe ngo-2017 Juni 8; kukhonjiwe ngo-2018 Feb 23]; [cishe izikrini eziyi-9]. Kutholakala kusuka: https://www.uwhealth.org/health/topic/medicaltest/breast-cancer-brca-gene-test/tu6462.html#tu6469
15. I-UW Health [Inthanethi]. UMadison (WI): Izibhedlela zase-University of Wisconsin kanye neGunya Lemitholampilo; c2018. Ukuhlolwa Kofuzo Lomdlavuza Webele (i-BRCA): Ukubuka konke kokuhlolwa [kubuyekezwe ngo-2017 Juni 8; kukhonjiwe ngo-2018 Feb 23]; [cishe izikrini ezi-2]. Kutholakala kusuka: https://www.uwhealth.org/health/topic/medicaltest/breast-cancer-brca-gene-test/tu6462.html
16. I-UW Health [Inthanethi]. UMadison (WI): Izibhedlela zase-University of Wisconsin kanye neGunya Lemitholampilo; c2018. Umdlavuza Webele (BRCA) Gene Test: Kungani Kwenziwa [kubuyekezwe 2017 Jun 8; kukhonjiwe ngo-2018 Feb 23]; [cishe izikrini ezi-4]. Kutholakala kusuka: https://www.uwhealth.org/health/topic/medicaltest/breast-cancer-brca-gene-test/tu6462.html#tu646

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