乳房的美麗與哀愁：從安潔莉娜裘莉談BRCA基因突變

The Beauty and the Sorrow of Breast: Angelina Jolie and BRCA Mutation

女星安潔莉娜裘莉，因為有家族史及帶有BRCA1基因突變，於2013年接受預防性雙乳切除手術，並在2015年接受預防性雙倒輸卵管及卵巢切除術。裘莉之所以如此決定，起因於多篇研究顯示有BRCA112基因突變者， 發生乳癌的機率高達87%，卵巢癌的機率高達60%。BRCA1／BRCA2基因被稱之為乳癌易風基因第一型及第二型。它們分別位於第十七號染色體（BRCA1，17q21）和第十三號染色體上（BRCA2，13q12-13）。主要的功能在製造蛋白質來修補被破壞的DNA。當BRCA1／BRCA2基因產生缺陷（即突變）時，就容易產生癌變。不論國內外皆發現，有乳癌家族史者約有20-25%帶有BRCA1／BRCA2基因突變。其中有BRCA1基因突變者，得到的常是三陰性乳癌（約佔1／3）。專家建議帶有基因突變者，在35-40歲期間預防性切除雙乳，可減少約90%的乳癌發生率；若加做卵巢併輸卵管切除，約可減少80%的卵巢、輸卵管癌發生率及到%的乳癌發生機率。本文將回顧BRCA帶原乳癌之病生理及目前的建議治療。

The famous American actress, Angelina Jolie underwent bilateral prophylactic mastectomy in 2013 because of her strong breast / ovarian cancer family history and the detection of a BRCA1 mutation. She also received prophylactic bilateral salpingo-oophrectomy (BSO) to prevent ovarian cancer in 2015. This is because the life risk of developing breast cancer and ovarian cancer in BRCA1/ 2 mutation carriers is as high as 87% and 60%. The BRCA1/ 2 genes, breast cancer susceptibility genes type 1 and 2, are located on chromosome XVII (BRCA1, 17q21) and XIII (BRCA2, 13q12-13). The normal function of BRCA1/ 2 is DNA repair and thus BRCA1/2 mutation results in tumorigenesis. A world-wide BRCA1/ BRCA2 mutation is detected in 20-25% of breast cancer patients with a family history and one third of BRCA1 mutation is associated with triple negative breast cancer. Prophylactic mastectomy at the age of 35 to 40 years would reduce 90% of breast cancer. Prophylactic BSO would reduce 80% of ovarian/ fallopian tube cancers and 50% of breast cancer. In this paper, we will review the pathophysiology of BRCA associated breast cancer and current management.