BRCA 유전자 변이란 어떤 것이고, 유전성 유방암 및 난소암과의 연관성에 대해서 알아보도록 하겠습니다.
BRCA 유전자란?
헐리우드 스타 안젤리나 졸리가 예방적 유방절제술을 받은 것은 유명한 사건입니다. BRCA 유전자는 그 덕분에 전세계적으로 유명해진 유전자로 유방암 및 난소암과 관련된 유전자입니다.
BRCA 유전자는 BRCA1, BRCA2의 2가지 타입이 존재합니다. BRCA1 유전자는 17번 염색체에, BRCA2 유전자는 13번 염색체에 각각 존재하는 별개의 유전자입니다. BRCA1, BRCA2 유전자는 DNA 수선에 관여하는 종양 억제 유전자들로서, 암을 예방하는 역할을 하는데, 이들 유전자에 돌연변이가 생기면 DNA 손상이 제대로 복구되지 않아 암에 걸릴 확률이 증가하는 것입니다.
BRCA 유전자 변이와 암 발생 확률
먼저, 변이라는 것에 대해서는 BRCA 유전자 검사 결과로 크게 5종류의 변이가 나올 수 있습니다. 병원성(Pathogenic), 유사 병원성(Likely pathogenic), 불확실 변이(Uncertain significance), 유사 양성(likely benign), 양성(benign)의 다섯 가지인데, 이름에서도 느껴지듯이 병원성이나 유사 병원성의 해당하는 경우에만 유방암, 난소암과 관련이 있다고 볼 수 있고, 불확실 변이, 유사 양성, 양성 변이의 경우에는 암과의 관련성이 낮다고 볼 수 있겠습니다.
연구 결과마다 차이가 있지만, 만약 BRCA1 유전자의 변이가 있는 경우 유방암에 걸릴 확률은 약 80%, 난소암에 걸릴 확률은 40%이고, BRCA2 유전자에 변이가 있는 경우 유방암에 걸릴 확률은 45%, 난소암에 걸릴 확률은 20%정도 입니다.
또한, BRCA 유전자는 유방암, 난소암 뿐만 아니라 다양한 암의 발생확률을 증가시키는 것으로 알려져 있습니다. BRCA1은 자궁경부암, 자궁내막암, 대장암과 관련이 있으며, BRCA2의 경우에는 위암, 담낭암, 담관암, 흑색종의 발병 확률을 증가시킬 수 있습니다.
그렇지만, BRCA 유전자 변이가 있다고 해서 무조건 암에 걸리는 것은 아니기 때문에, 타목시펜 등의 화학적 예방요법이나, 예방적 유방절제술이나 난소난관 절제술 등의 수술적 예방요법은 부작용 등을 고려하여, 반드시 전문의와 상담 후 신중히 결정해야 합니다.
BRCA 유전자 검사
그렇다면 어떤 분들이 BRCA 유전자 검사를 받는게 좋을까요?
BRCA1, BRCA2 유전자 검사는 다음과 같은 경우에 건강보험 급여로 인정받을 수 있습니다. 이분 들은 필수적으로 검사를 받는게 좋습니다.
- 유방암이 진단되고 환자의 가족 및 친척(3차 관계 이내)*1) 에서 1명이상 유방암, 난소암*2), 남성유방암, 전이성 전립선암, 췌장암이 있는 경우
- 만 40세 이하에 진단된 유방암
- 만 60세 이하에 진단된 삼중음성 유방암
- 양측성 유방암
- 유방암과 함께 난소암*2) 또는 췌장암이 발생한 경우
- 남성 유방암
- 난소암*2)
*1) 여기에서 가족 및 친척 (3차 관계 이내)라는 말을 살펴보면,
1차 관계: 부모, 형제자매, 자녀
2차 관계: 조부모, 부모님의 형제자매, 손자/손녀, 조카, 이복형제
3차 관계: 증조부모, 증손, 사촌
에 해당합니다.
*2) 또한 여기에서 말하는 난소암이란, 상피성 난소암으로 난관암과 원발성 복막암이 포함되고, 조직학적으로 순수 점액성 난소암은 제외됩니다.
여기에 해당하지 않는 분들이더라도, 유방암이나 난소암의 가족력이 있는 사람은 고위험군으로 BRCA 유전자 검사를 시행하는 것이 추천됩니다.
최근에는 고위험군이 아닌 일반인들을 대상으로 한 일반 건강검진에서도 유전자 검사를 시행하는 경우가 있습니다. 만약, 여기에서 BRCA 유전자 이상이 발견된다면, 좀 더 적극적으로 암 예방을 할 수 있겠습니다.
BRCA 유전자 검사는 혈액을 20cc정도 뽑아서 검사를 진행합니다. 검사 소요기간은 병원마다 다르지만 2주~1달 정도 소요됩니다. 최근에는 주로 NGS (Next generation sequencing) 기반의 검사로 진행을 하고 있습니다. 검사를 진행하는 기관마다 변이 해석의 기준은 조금씩 다를 수 있다는 점은 주의해야 하겠습니다.
검사비용은 건강보험이 적용되지 않는 비급여일 경우, 90~170만원 정도이기 때문에 다소 비싸다고 생각하실 수 있지만, 유방암, 난소암은 암 중에서도 BRCA 유전자 검사를 통해 미리 대비하고, 예방할 수 있기 때문에 한 번쯤 검사를 받아보시는 것이 좋을 것 같습니다.
BRCA 유전자에 대해 좀 알것같네요 감사합니다
질병과 연관이 있는 중요한 유전자이니 미리 검사해보는 것도 좋을것같습니다.
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