BRCA突變是BRCA1BRCA2基因出現的突變,這兩個基因都是腫瘤抑制基因。5–10%的女性乳腺癌病例與BRCA1和BRCA2突變有關( BRCA1突變比BRCA2突變略常見)。 [1]

父母任何一方都可以將突變遺傳給兒子和女兒。 [2]BRCA突變還會增加罹患大腸癌胰腺癌前列腺癌的風險。

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