Iinguqulelo ze-Genetic zixhunywa kwiHereditary Breast Cancer

Ngokutsho kweNational Cancer Institute, umdlavuza webele we- invasive unomthelela kumfazi omnye kwabasibhozo base-US, kwaye malunga neepesenti ezi-5 ukuya kwe-10 yazo zonke i-cancer zebele zinefa.

Okwangoku, abaninzi abantu baqhelanise ne-BRCA1 kunye ne-BRCA2 yeentshintsho zentsholongwane, ezigugu lomgulo-okanye ukungaqhelekanga kwi-DNA yokulandelela-okwandisa umngcipheko wokuvelisa umdlavuza webele.

Ngokwezibalo ezivela kwiNational Cancer Institute, ngama-70 ubudala, ama-55 ekhulwini ukuya kuma-65 ekhulwini kwabasetyhini abazuze iinguquko ze-BRCA1 ze-gene kunye namaphesenti angama-45 amabhinqa abazuze ifa le-BRCA2, Kuza kube yimhla, i-BRCA1 kunye ne-BRCA2 iinguqu ezingama-20 ukuya kuma-25 ekhulwini kuwo onke ama-cancer.

Kodwa le datha kuphela ibhalela inxalenye encinci yabasetyhini abaza kuphuhlisa eso sifo. Ngaba izazinzulu ziza kusondela ekuqaliseni ukuhluka kofuzo okanye izinto ezinokudlala indima ekuphuhliseni umdlavuza webele? Enyanisweni, kunjalo.

Izifundo ezimbini zokuKhanya kweziNtshukumo kwiNguqulelo ezintsha ze-Gene

Ngo-Oktobha 2017, izifundo ezimbini zanyatheliswa kwiimagazini zeNdalo kunye ne- Nature Genetics , ngokulandelanayo, ezichazwe ngeziphumo ezingama-72 zangaphambili ezingekho phantsi kwezinto ezithintekayo zokutshintshela izifo ezenza umngcipheko wesifazane wokuba nomdlavuza webele. Ikomiti yamazwe ngamazwe, eqhuba izifundo, ibizwa ngokuba yi-OncoArray Consortium, kwaye yahlanganisana nabaphandi abangaphezu kwe-500 abavela kumaziko angaphezu kwama-300 ehlabathini lonke-esi sifundo sithandwa njengesifundo somhlaza wesifuba esiphezulu kakhulu emlandweni.

Ukuqokelela ulwazi lwolu cwaningo, abaphandi bahlalutya idatha yezofuzo zabafazi abangama-275,000-abangu-146 000 abaye bafumana ukuxilongwa komhlaza wesifuba. Ukuqokelelwa kolwazi oluninzi kunceda izazinzulu zichonge iziganeko ezinobungozi obangela ukuba abafazi banomhlaza wesibeleko kwaye bangabonelela ukuba kutheni kuninzi kunzima ukuphatha abanye abantu.

Nazi ezinye zeenkcukacha ngokubhekiselele kuphando lophando:

Ziyintoni le Njongo kubasetyhini abasengozini yokuphuhlisa iHereditary Breast Cancer

I-Breastcancer.org, inhlangano engenzi nzuzo ezinikezele kwimishini yokuqokelela ulwazi kunye nokudala uluntu kulabo abachaphazeleka ngumhlaza wesibele, inokwabelana ngale ngcaciso, "Abantu abaninzi abahlakulela umdlavuza webele abanalo nentsapho yolwazi lwesifo.

Nangona kunjalo, xa imbali yomeleleyo yentsapho kunye / okanye umdlavuza we-ovariya ukhona, kunokubakho isizathu sokukholelwa ukuba umntu uzuze ilifa elingavamile elijongene nomngcipheko wesifo somhlaza wesifuba. Abanye abantu bakhetha ukuhlolwa kofuzo ukuze bafumane. Uvavanyo lofuzo lubandakanya ukunikela isampula yegazi okanye isalathisi esenokuhlaziywa ukuba ilandele nayiphi na into engafanelekanga kula majethi. "

Njengamanje, iimvavanyo zendalo zohlobo oluqhelekileyo kwesi sifo yi-BRCA1 kunye ne-BRCA2 yokuguqula izidalwa. Kodwa njengoko inzululwazi ibonisa iinguqu ezongezelelweyo zomzimba ezixhomekeke kumhlaza wesisu, ugqirha wakho unokuncoma ukuqhubeka nokuvavanywa nomcebisi wezityalo . Ukuba imbali yakho okanye yomntu ibonisa ukuba unokuba ngumthwali wezinye izifo ezingaqhelekanga, iphaneli yezofuzo enokubanzi ingaba yinzuzo kuwe. Njengoko ukuqhubela phambili kwintsimi ye-genetics iyaqhubeka, iinkqubo ezichanekileyo zokuvavanya ziya kuvumela ukubonakala kwangaphambili kweengxaki zengozi yomhlaza webele, indlela eyahlukileyo yokunyamekela, kunye neendlela ezingcono zokonyango.

Ngaba zikhona iindlela zokukhusela abafazi abangathabatha?

UBreastcancer.org uncoma ukuba abafazi abayazi ukuba banokuguqulwa kwemfuzo enxulumene nomhlaza wesibeleko baqwalasele ukuphumeza le miqathango yokuthintela ukunciphisa umngcipheko :

Amasu amaninzi okukhusela angabandakanya:

ILizwi

Imbali yentsapho nganye yamabhinqa iyingqayizivele, ngoko akukho nto ifanayo-inye yonke indlela yokuthintela okanye ukunyanga umdlavuza webele. Ukuba usengozini yokuhlaselwa ngumhlaza wesifuba, yenza umsebenzi kwaye uxoxe nogqirha wakho malunga nendlela yokunciphisa umngcipheko wakho wesifo kwaye, ukuba kuyimfuneko, uncedo olufanelekileyo lwezonyango olufumanekayo.

Ukuba ufumana ujongene nokuxilongwa kwesifo somhlaza wesifuba, fumana kwabanye inkxaso. Uluntu lomhlaza wesifuba lukhula, kwaye luzaliswe ngabanye besifazane abaqinileyo abanokuzifumana. Bakukukhuthaza ekuhambeni kwakho. Ngaphezu koko, ukufumana inkxaso eyongezelelweyo kunokunciphisa iimvakalelo zokuzihlukanisa ezingahle zenzeke ngokuxilongwa komhlaza wesifuba.

> Imithombo:

> I-Cancer Isifo seHormone Isimo seReceptor. I-American Cancer Society website. https://www.cancer.org/cancer/breast-cancer/understanding-a-breast-cancer-diagnosis/breast-cancer-hormone-receptor-status.html

> I-Cancer Stat Facts: I-Cancer yaseBestern Breast Cancer. INational Cancer Institute iwebhusayithi. https://seer.cancer.gov/statfacts/html/breast.html

> Michailidou K, Lindstrom S, uDennis J, et al. Uhlalutyo lombutho lubonakalisa ingozi engama-65 yomhlaza webele. Uhlobo. 2017. Ithenda: 10.1038 / imvelo24284

> Milne RL, Kuchenbaecker, KB, Michailidou K, et al. Ukuchongwa kweentlobo ezilishumi ezinxulumene nomngcipheko wesifo somhlaza we-esrogen-negative receptor. Nature Genetics. 2017. Ithenda: 10.1038 / ng.3785

> Ukufunyanwa Kufunyanwa iiNtsholongwane ezingamaNtsholongwane ezingama-72 ezinxulumene neCanscer Breast. KwiBastastcancer.org iwebhusayithi. http://www.breastcancer.org/research-news/72-new-genetic-mutations-linked-to-bc-found