So wunim BRCA sɔhwɛ bi? (BRCA Testing) Ɔkwan a wɔfa so hu kokoram ho asiane ntɛm!

Ebia woate asɛmfua `BRCA` (BRCA) bere a woreka nneɛma te sɛ nufu mu kokoram, awotwaa mu kokoram ho asɛm no. Ebia wo duruyɛfo nso aka ho asɛm. Dɛn ankasa ne saa `BRCA` awosu mu abɔde yi? Dɛn na yebetumi asua denam saa `(BRCA sɔhwɛ)` yi a yɛbɛyɛ so? Ɛnnɛ yɛbɛka eyinom nyinaa ho asɛm tiawa koraa, wɔ ɔkwan a wubetumi ate ase so. Te sɛ nea wo ne w’adamfo bi rekasa ara pɛ.

Dɛn ne BRCA? Dɛn nti na ɛho hia yɛn?

Sɛ yɛbɛka no tiawa a, `BRCA1` ne `BRCA2` yɛ awosu mu nkwaadɔm titiriw abien wɔ yɛn nipadua mu. Wɔte sɛ awɛmfo a wɔwɔ yɛn afiase dan mu no. Wɔn adwuma titiriw ne sɛ wobesiesie yɛn `DNA` a asɛe no na wɔasiw nkwammoaa no kwan sɛ ɛnnyin ntɛmntɛm dodo na wontumi nni so wɔ mmeae te sɛ nufu ne awotwaa mu. Fa no sɛ saa awosu mu nkwaadɔm yi yɛ "breki" nhyehyɛe ketewaa bi a ɛwɔ yɛn nipadua mu a esiw kokoram nkwammoaa kwan sɛ ɛbɛhyehyɛ. Ɛno nti na yɛfrɛ wɔn `(tumor suppressor genes)`.

Nanso, ɛtɔ da bi a saa `BRCA` awosu mu nkwaadɔm a ɛho hia yi betumi anya nsakrae bi, anaasɛ `nkwaa mu nsakrae` . Ɛno na ɔhaw no fi ase. Sɛ saa awosu mu nkwaadɔm yi ntumi nyɛ adwuma yiye a, ɛda adi sɛ nkwammoaa a mekaa ho asɛm no nyin a wontumi nni so. Afei asiane a ɛwɔ hɔ sɛ ɛnyɛ nufu mu kokoram, awotwaa mu kokoram nko, na mmom kokoram ahorow afoforo pii nso kɔ soro.

Adeɛ a ɛho hia ne sɛ wɔde saa `BRCA` awosu mu nkwaadɔm mu nsakraeɛ yi kɔ awoɔ ntoatoasoɔ so kɔ awoɔ ntoatoasoɔ so. Ɛno kyerɛ sɛ wubetumi anya saa mutation yi afi wo maame anaa wo papa hɔ. Ɛte sɛ abusua agyapade. Yɛyɛ awosu mu nhwehwɛmu a wɔfrɛ no `(BRCA testing)` de hu sɛ wowɔ saa `BRCA` mutations yi anaa. Eyi nti, wogye mogya ketewaa bi fi wo hɔ na wɔyɛ mu nhwehwɛmu.

Henanom na ɛsɛ sɛ wɔyɛ BRCA sɔhwɛ no? So obiara hia?

Nokwarem no, saa `BRCA` awosu mu nkwaadɔm mu nsakrae yi ntaa mma saa. Sɛ nhwɛso no, Amerikafo dodow bɛyɛ 0.2% na wɔwɔ saa tebea yi. Ɛno yɛ ɔha biara mu nkyem ketewaa bi pɛ. Enti, nnuruyɛfo dodow no ara nhyɛ nyansa sɛ obiara nyɛ saa `BRCA` sɔhwɛ yi. Nanso, sɛ wowɔ asiane ahorow bi a, ebia wo duruyɛfo betu wo fo sɛ yɛ nhwehwɛmu yi.

Afei ma yɛnhwɛ nea saa asiane ahorow no yɛ:

• Sɛ woanya nufu mu kokoram , titiriw sɛ ɛbaa ansa na woadi mfe 50 a.
• Sɛ wɔahu sɛ wo busuani bi a ɔbɛn wo wɔ w’abusua mu (ɛna, agya, anuanom, mma) anya `BRCA` mutation dedaw a.
• Sɛ w’abusua no muni biako anaa nea ɛboro saa anya nufu mu kokoram (titiriw sɛ mmarima anya nufu mu kokoram a, ɛno nso ho hia).
• Sɛ wowɔ nufu mu kokoram ne awotwaa mu kokoram nyinaa a.
• Sɛ woyɛ Ashkenazi Yudafo abusuakuw mu a (ɛda adi sɛ nnipa a wofi saa abusuakuw yi mu benya BRCA mutation ahorow).
• Sɛ wo anaa obi a ɔwɔ w’abusua mu wɔ abakɔsɛm a ɛkyerɛ sɛ woanya kokoram ahorow pii a.
• Sɛ obi a ɔwɔ w’abusua mu wɔ awosu mu asiane a ɛma obi nya kokoram, sɛ nhwɛso no, Cowden yare, Fanconi mogya a ɛtɔ kɔ nipadua mu, Li-Fraumeni yare, anaa Peutz-Jeghers yare.

Sɛ saa nneɛma yi mu biako anaa nea ɛboro saa fa wo ho a, ɛbɛyɛ nea nyansa wom sɛ wo ne oduruyɛfo bɛkasa na woasusuw ho sɛ wobɛyɛ BRCA nhwehwɛmu.

Dɛn na yebetumi asua afi BRCA sɔhwɛ mu?

Fa no sɛ wowɔ sɔhwɛ yi. Sɛ ɛkyerɛ sɛ wowɔ nkwaadɔm mu nsakrae wɔ `BRCA1` anaa `BRCA2` awosu mu nkwaadɔm mu a, ɛkyerɛ sɛ asiane kɛse wɔ hɔ sɛ wubenya nufu mu kokoram sen onipa a ɔte saa . Nhwehwɛmu bi ada no adi sɛ obi a ɔwɔ `BRCA` mutation no betumi anya nufu mu kokoram bere a wadi mfe 80 no bɛyɛ mpɛn asia sen onipa a ɔte saa. Afei nso, ɛda adi sɛ kokoram no benya wɔ mmofraase na ɛka nufu abien no nyinaa .

Ɛnyɛ ɛno nko, na mmom BRCA mu nsakrae betumi ama kokoram ahorow afoforo pii ho asiane ayɛ kɛse. Wɔn titiriw ne:

• Ovarian kokoram ne kokoram abien a ɛfa ho, fallopian tube kokoram ne peritoneal kokoram.
• Prostate cancer - Eyi ho hia ma mmarima.
• ` (Kokoram a ɛwɔ dwensɔtwaa mu)` (kokoram a ɛwɔ dwensɔtwaa mu).
• ` (Fanconi anemia)` (Fanconi anemia) - Eyi yɛ kokoram a ɛntaa nsi koraa, ɛtaa ba wɔ mmofraase.

Nea ɛho hia: Sɛ wowɔ BRCA mutation a , ɛnkyerɛ sɛ akyinnye biara nni ho sɛ wubenya kokoram. Ɛkyerɛ ampa sɛ wowɔ asiane kɛse mu. Eyi a wubehu no betumi aboa wo ma woayɛ nneɛma bi de atew asiane a ɛwɔ hɔ no so.

Dɛn na ɛba ansa na wɔayɛ BRCA sɔhwɛ no?

Ansa na wobɛyɛ BRCA nhwehwɛmu no, ɛho behia sɛ wokɔ awosu ho ɔfotufo bi nkyɛn . Eyi yɛ anammɔn a ɛho hia paa. Saa awosu ho ɔfotufo yi bɛkyerɛkyerɛ sɛnea awosu mu nkwaadɔm a wunya fi w’abusua hɔ betumi aka asiane a ɛwɔ hɔ sɛ wubenya kokoram no mu akyerɛ wo. Wɔbɛkyerɛkyerɛ mu akyerɛ wo sɛ:

• Sɛ BRCA nhwehwɛmu aba no yɛ papa anaasɛ ɛnyɛ papa a, dɛn na ɛkyerɛ?
• Ɔkwan bɛn so na nea efii wo nhwehwɛmu mu bae no ka asiane a ɛwɔ hɔ sɛ kokoram wom no?
• Ɔkwan bɛn so na nea efi mu ba no ka asiane a ɛwɔ w’abusua mufo afoforo mu no?

Ɛyɛ papa sɛ wobɛyɛ sɔhwɛ no bere a woanya eyinom nyinaa ho ntease pa akyi nkutoo.

Sɛ woyɛ BRCA sɔhwɛ a, dɛn na ɛba?

Ɛyɛ mmerɛw ankasa. BRCA nhwehwɛmu no hwehwɛ mogya kakraa bi pɛ fi wo hɔ.Ɛte sɛ bere a wɔyɛ wo mogya mu nhwehwɛmu anaa bere a wode mogya ma no ara pɛ. Oduruyɛfo anaa ɔyarehwɛfo no de ade ketewaa bi hyɛ ntini bi a ɛwɔ wo nsa mu mu na ɔtwe mogya kakraa bi kɔ toa ketewa bi mu.

Ebia wobɛte ɛyaw kakra bere a wɔde ade no hyɛ mu na wɔayi afi mu no. Nanso eyi befi hɔ wɔ nea ennu simma anum mu. Sɛ mogya tu kakra a, wobetumi de plaster ketewaa bi apete baabi a ɛwɔ no. Ɛtɔ da bi a, wobetumi de nnompe a wɔde yɛ nhwehwɛmu nso ayɛ sɔhwɛ yi.

Dɛn na ɛba wɔ BRCA sɔhwɛ no akyi?

Wo duruyɛfo bɛkyerɛ wo bere tenten a ebegye ansa na woanya nea efi mu ba no. Bere a nea efi mu ba no asan aba akyi no, ɛho hia sɛ wosan kɔ w’awosu ho ɔfotufo nkyɛn bio. Wobetumi akyerɛkyerɛ nea afi mu aba no mu akyerɛ wo na wɔakyerɛkyerɛ nneɛma a wubetumi apaw mu.

Dɛn ne nea ebetumi afi BRCA sɔhwɛ mu aba?

Nneɛma ahorow abiɛsa betumi afi mu aba.

1. Na sɛ nea efi mu ba no yɛ papa nso ɛ?

Sɛ wowɔ BRCA mutation a, ɛkyerɛ sɛ asiane a ɛwɔ hɔ sɛ wubenya kokoram no akɔ soro kɛse . Nanso, mma ɛnhaw wo. Ɛnkyerɛ sɛ akyinnye biara nni ho sɛ wubenya kokoram. Eyi a wunim no betumi aboa wo ma woayɛ nneɛma pa de asiw kokoram ano, ahu no ntɛm, anaa mpo asiw ano. Ebetumi nso aboa afoforo a wɔwɔ w’abusua mu ma wɔate asiane a ɛwɔ mu no ase.

Wo ne wo duruyɛfo ne awosu ho ɔfotufo nkasa na si gyinae sɛ ebia ɛsɛ sɛ w’abusua mufo afoforo yɛ nhwehwɛmu anaa. Wɔbɛka akwan a wubetumi afa so asiw ano nso akyerɛ wo. Nhwɛsoɔ:

• Kokoram ho nhwehwɛmu a wɔbɛyɛ no mpɛn pii: Sɛ nhwɛso no, mpɛn pii no, wɔyɛ wɔn nufu mu nhwehwɛmu.
• Akwan foforo a wɔfa so yɛ nhwehwɛmu: Nneɛma te sɛ nufu mu MRI mfonini.
• Awo ano aduru bi a wɔde bedi dwuma ano hye: Bere a awo ano aduru bi betumi atew asiane a ɛwɔ hɔ sɛ wobenya awotwaa mu kokoram no so no, ebetumi ama asiane a ɛwɔ hɔ sɛ wobenya nufu mu kokoram no ayɛ kɛse wɔ nnipa binom mu. Ɛsɛ sɛ wo ne wo duruyɛfo kasa fa eyi ho.
• Nnuru a wɔde ko tia kokoram a wɔde di dwuma: Sɛ nhwɛso no, nnuru te sɛ tamoxifen.
• Oprehyɛn a wɔde siw ano: Nufu mu ntini a ɛte apɔw a woyi ansa na kokoram aba (prophylactic mastectomy) anaasɛ woyi awotwaa ne awotwaa mu ntini (woyi awotwaa ne awotwaa mu ntini a wɔde siw ano). Eyinom yɛ gyinaesi akɛse, enti ɛsɛ sɛ wusi bere a woasusuw ho yiye na wo ne wo duruyɛfo asusuw ho awie no.

2. Na sɛ nea efi mu ba no nyɛ papa nso ɛ?

Nea efi mu ba a enye kyerɛ sɛ wunni `BRCA` mutation. Afei nso, woremfa `BRCA` mutation nkɔma wo mma. Nanso, `BRCA` nhwehwɛmu a ɛnyɛ papa no nkyerɛ sɛ worennya kokoram da. Ɛkyerɛ sɛ asiane a wowɔ no te sɛ obi a ɔwɔ nnipa dodow no ara mu de.

Nanso, sɛ wo nhwehwɛmu no nyɛ papa, nanso w’abusua no muni biako anaa nea ɛboro saa anya nufu mu kokoram ansa na wɔadi mfe 50 a, tebea no mu yɛ den kakra. Ebia eyi bɛkyerɛ sɛ w’abusua no wɔ awosu mu nsakrae foforo a ɛma asiane a ɛwɔ hɔ sɛ wubenya kokoram no yɛ kɛse. W’awosu ho ɔfotufo betumi aboa wo ma woate nea afi mu aba yi ase na woasi gyinae sɛ ebia nhwehwɛmu foforo ho hia anaa.

3. Na sɛ nea ebefi mu aba no yɛ nea wontumi nsi pi nso ɛ?

Ɛtɔ da bi a nea ebefi mu aba no betumi ayɛ "nea wontumi nsi ho gyinae." Eyi kyerɛ sɛ wowɔ nsakrae wɔ wo BRCA1 anaa BRCA2 awosu mu nkwaadɔm no biako mu, nanso wonnya nhuu saa nsakrae no sɛ nkwaadɔm mu nsakrae a ɛma asiane a ɛwɔ hɔ sɛ wubenya nufu mu kokoram no yɛ kɛse. Wɔfrɛ eyi "Variant of unknown significance" (VUS) . Sɛ eyi ba a, w’awosu ho ɔfotufo no bɛkyerɛkyerɛ nea ebefi mu aba no mu akyerɛ wo na waboa wo ma woasi gyinae sɛ ebia wo anaa w’abusua mufo afoforo hia awosu mu nhwehwɛmu foforo anaa.

Mfaso bɛn na ɛwɔ BRCA sɔhwɛ so? So asiane ahorow bi wɔ hɔ?

Mfaso kɛse a ɛwɔ sɔhwɛ yi so ne sɛ ɛkyerɛ wo sɛ ebia wowɔ `BRCA` gene mutation anaa. Eyi ma wunya kokoram ho asiane a ɛwɔ hɔ no ase yiye . Afei nso, saa nsɛm yi betumi aboa w’abusua ma wɔasisi wɔn akwahosan ho gyinae. Seesei ``comprehensive genetic testing panels`` wɔ hɔ a ɛsɔ awosu mu nkwaadɔm afoforo pii hwɛ de ka ``BRCA1/BRCA2`` ho. W’awosu ho ɔfotufo betumi akyerɛ wo kwan wɔ sɔhwɛ a ɛfata wo kɛse no ho.

Ɛdefa asiane ahorow ho no, asiane akɛse biara nni sɔhwɛ yi mu. Ɛyɛ mogya a wɔtwe a ɛyɛ mmerɛw yiye ara kwa.

Dɛn na ɛsɛ sɛ mibisa me duruyɛfo/ɔyarehwɛfo?

Sɛ woresusuw nhwehwɛmu yi ho, anaasɛ woayɛ bi dedaw a, ɛbɛyɛ papa sɛ wubebisa wo duruyɛfo anaa awosu ho ɔfotufo nsɛm yi:

• So ɛyɛ adwene pa sɛ obi foforo biara wɔ m’abusua mu sɛ ɔbɛyɛ saa `BRCA` sɔhwɛ yi?
• Sɛ me nhwehwɛmu no da adi sɛ ɛyɛ papa a, so ɛno kyerɛ sɛ me mma nso benya saa awosu mu nsakrae no?
• Ɔkwan bɛn so na nea efii me nhwehwɛmu mu bae no bɛka nufu mu kokoram ho nhwehwɛmu, ne kokoram ahorow afoforo ho nhwehwɛmu?
• Sɛ me nhwehwɛmu no yɛ papa a, dɛn na ɛsɛ sɛ meyɛ na ama asiane a ɛwɔ hɔ sɛ menya kokoram ahorow bi no so atew?
• So sɔhwɛ ko a meyɛe no betumi ahu awosu mu nsakrae afoforo?

Ɛho hia paa sɛ wubehu nsɛmmisa yi ho mmuae.

Nea etwa to no, nneɛma a ɛsɛ sɛ wokae (Take-Home Message) .

`BRCA` sɔhwɛ yɛ sɔhwɛ a ɛhwehwɛ nsakrae a ɛnteɛ, anaa nkwaadɔm mu nsakrae, wɔ awosu mu nkwaadɔm `BRCA1` ne `BRCA2` mu. Sɛ nea efi mu ba no yɛ papa a, ɛkyerɛ sɛ asiane kɛse wɔ hɔ sɛ wubenya nufu, awotwaa, ne kokoram ahorow bi sen onipa biara.

Nanso, nea ɛho hia sen biara no, nim a wunim sɛ wowɔ BRCA awosu mu nkwaadɔm mu nsakrae no ma wutumi tu anammɔn bi de tew asiane a ɛwɔ hɔ no so na wusiw kokoram ano.Afei nso, saa nsɛm yi betumi ayɛ nea ɛho hia w’abusua paa. Enti, nsuro sɛ wo ne wo duruyɛfo anaa awosu ho ɔfotufo bi bɛkasa afa eyi ho, na nya ntease pa wɔ sɛ ebia wuhia nhwehwɛmu yi ne, sɛ ɛte saa a, sɛnea wobɛtoa nea ebefi mu aba no so.

` BRCA, BRCA nhwehwɛmu, nufu mu kokoram, awotwaa mu kokoram, awosu mu nhwehwɛmu, kokoram ho asiane, awosu mu nsakrae