策劃、編譯■李威撰

安潔莉娜裘莉因基因檢測的結果而決定切除乳房，消息傳出以後，人體基因序列能否註冊專利的問題，再次引發話題。

BRCA1與BRCA2是抑制腫瘤的基因，這兩條基因若發生突變，罹患乳癌與卵巢癌的機率就會提高。目前，只有擁有專利的麥利亞德能進行BRCA基因缺陷的研究及檢測。壟斷的結果，價格也受到了控制。反對者擔心，過高的價格使得收入偏低的女性無法負擔費用。

▲乳癌患者在美國華盛頓喬治城大學醫院（Georgetown University Hospital）的倫巴狄癌症中心（Lombardi Cancer Center）裡就診，圖攝於2007年5月23日。（圖文／路透）

另外，麥利亞德主導了研究的方向。在癌症基因研究這塊領域，麥利亞德扮演守門員的角色。麥利亞德通過檢測，蒐集到龐大的基因資料，而這些資料對於改善人體健康而言極其珍貴，然麥利亞德不願分享這些資料。

美國最高法院目前正在審理麥利亞德的案子，討論的重點放在麥利亞德在分離基因序列的同時，是否「發明」出任何東西。獲得生技業支持的麥利亞德，稱聲分離的基因序列之所以可以當作專利，乃因這些基因在人體內不會以獨立的方式存在。

但批評者則認為，麥利亞德只是「發現」某種自然形成之物，因此不能申請專利。最高法院對這項問題也有不同意見。法官認為，如果從自然物分離出來的東西可以申請專利，按此邏輯，亞馬遜森林裡的一棵樹或細胞抽離出的染色體也都能申請專利。

不過，另一個現實問題是，如果分離的基因序列不能被申請專利，是否有公司願意去花大筆投資經費在研發上？麥利亞德聲稱專利若被推翻，恐將影響到個人化診斷醫療的投資。

美國分子病理學學會（Molecular Pathology）控訴麥利亞德基因科技公司的案件，今年4月已在最高法院進行口頭辯論，判決預計下個月出爐。

（綜合外電報導）

策劃、編譯■李威撰

安潔莉娜裘莉在《紐約時報》的投書，引起廣大民眾迴響。許多人讚許她的勇氣同時，卻也激起女性讀者對癌症的恐慌。這一恐慌是可理解的，畢竟乳癌在美國一直是女性癌症的10大死因之首。

讀完安潔莉娜裘莉的文章，讀者很容易肯定裘莉的想法及作法。但是達特茅斯衛生政策與臨床診療研究所（The Dartmouth Institute for Health Policy and Clinical Practice）教授威爾希（H. Gilbert Welch）卻認為，名人發揮偌大啟發作用的同時，讀者可能會疏忽一些重要的事實。

安潔莉娜裘莉的故事在激起某些女性的共鳴時，讀者可能會在裘莉的身上看見自己，因而自問是否該進行預防性的乳房切除。威爾希表示，裘莉的文章應該加上一句重要的警語，表明自己的故事與美國99％以上的婦女都無關。

安潔莉娜裘莉進行BRCA基因突變的檢測，得出乳癌風險87％、卵巢癌風險50％的結果。BRCA基因一旦突變，乳癌風險增加約莫5倍，卵巢癌則是10倍以上。然而，美國只有0.11％至0.12％的婦女有BRCA基因突變的問題。

對於高風險族群及一般民眾來說，手術帶來的傷害都是一樣的。可是，對高風險的民眾來說，預防性的醫療干預愈有可能是合算的行為，動手術的利益可能大於傷害。一般人則不同，事先的手術，帶來利益的可能性偏低。

威爾希表示，絕大多數的婦女都沒有BRCA1的突變問題，罹患乳癌的機率是平均的風險水準，因此不該進行預防性切除手術。他表示，醫學上有一條基本道理：嚴重病患因醫療介入而獲得的利益會大於輕病者。輕病者因為介入的醫療行為而獲益的可能較低，甚至是有害無益。

另外，女性又否該為BRCA1而去進行昂貴的檢測？裘莉的答案或許是肯定的，因為她指出全球每年有50萬名女性死於乳癌。但威爾希表示，裘莉沒有提及這些死者有9成跟BRCA1無關，大多數罹癌的女性都沒有基因突變的問題，因為大多數的乳癌都是出於偶發。

（整理自《有線電視新聞網》）

策劃、編譯■李威撰

為預防乳癌發生，奧斯卡女星安潔莉娜裘莉切除雙乳的決定，震驚了她的影迷。但醫師們表示，許多有罹患乳癌高基因風險的婦女對此都能感同身受。

裘莉14日刊登在《紐約時報》的投書中，細述自己手術及休養3個月的經過。她表示，希望自己的經驗可以鼓勵其他有乳癌家族病史的婦女前去檢測。

癌症專家表示，裘莉是在充分掌握資訊後，才進行這項醫療行為，將她87％的罹癌風險降至5％以下。對那些面臨相同抉擇的民眾來說，專家們希望裘莉的案例能有助於她們的討論。

裘莉的情況不同。裘莉尚未罹癌，而是因為家族有罹患乳癌的高風險，因此採行切乳手術。貝德羅希安表示：「安潔莉娜裘莉的情形截然不同，在她的情況中，我認為切除雙乳是恰當的，這在腫瘤學上也是完全說得通的。」

美國國家癌症研究所指出，裘莉進行BRCA基因有害突變的檢測，結果呈現陽性，意味著她的罹患乳癌風險比常人高出5倍。

BRCA1與BRCA2的基因突變，會增加女性60％至80％的乳癌風險。裘莉風險更高，因為她的母親56歲死於乳癌，這提高了裘莉在年輕階段罹癌的風險。

裘莉表示，她目睹母親與乳癌搏鬥10年，自己動了手術後，子女不用再承受同樣的苦痛。

紐約蒙特菲爾醫學中心的生殖基因主任克盧格曼博士表示，這對尋求基因諮詢的婦女來說是要緊的。克盧格曼曾幫數千名婦女做過BRCA檢測。克盧格曼表示，諮詢專家會協助婦女了解基因檢測陽性的意義。

克盧格曼表示：「某些女性會被資訊擊垮，有些女性則發自內心的變得更堅強。」她表示，自己見過許多3、40歲的婦女也面臨類似的風險，她們選擇切除雙乳作為預防之道。「安潔莉娜裘莉體悟到自己的母親在50多歲過世，她有6個小孩，她想活下去，這些故事天天都能見到。」

以前的外科醫師會大量移除病患的乳房組織及皮膚，導致婦女雖可存活，外型卻不好看；如今，乳房切除的技術大有進步。裘莉經歷一連串手術，保留大部分的皮膚及乳頭的同時，也清除了底下的乳房組織。

她的醫師使用抽空的鹽水袋義乳作為組織擴張器，在復原期間花上數週的時間來擴張，最後再以鹽水義乳或矽膠義乳取代。

其他手術則可使用身體其他部位的組織，包括胃部的脂肪組織。美國整形外科學會表示，包含乳房再造在內，整個手術下來可花上7萬5千美元。專家表示，這筆花費通常都在私人保險的給付範圍之內。

「如今的乳房再造的技術相當不可思議，我認為這是為何跟過去相比，愈來愈多女性選擇預防性乳房切除手術的原因。」

「手術從非常細小的切口進行，切口可藏在乳暈或胸部下方，外觀上幾乎隱而不見，所以基本上你是看不到疤痕的。」

不過，就算雙乳切除有可能保住婦女的性命，要做出切除手術的決定仍是困難的。

克盧格曼最近遇到1名82歲的乳癌婦女，她應女兒的要求前來做基因檢測。「她是陽性，但她女兒後來卻不願檢查。」克盧格曼說：「她太緊張了。」克盧格曼表示，她希望裘莉對外公開自己動手術的決定，能夠去除掉一些污名。「很多人害怕談論自己的基因。」她說。

紐約史隆凱特靈癌症中心的胸部外科醫師卡普科，要求所有她的病患在動手術前，先去做檢查及諮詢。

國家癌症研究所指出，對罹患乳癌的中高風險女性來說，預防性乳房切除手術能降低90％的風險。

但這不保證手術能完全保護婦女，譬如，乳房組織有時可在鎖骨或胸壁處被發現。另外，跟其他手術一樣，有感染及失血過多的風險。

麥利亞德基因科技公司擁有這些基因檢測的專利，每次要價3千至4千美元不等。上個月，美國最高法院就人類DNA能否登記專利展開審查，預計下個月有判決結果。專家們相信，不利麥利亞德基因科技公司的判決結果，會有助於降低檢測的成本及增進檢測的可近性。

對有私人保險的婦女來說，手術花費通常都有給付，特別是那些測得BRCA突變陽性結果的人。去年2012年8月，總統歐巴馬的醫療法規定，強制要求將預防性醫療服務的BRCA檢測納入保險給付範圍。今年10月上路的醫療計畫將癌症檢測納入保險給付範圍，美國將有數百萬名沒有投保醫療險的民眾可免費獲得此一服務。（路透）

Angelina Jolie's decision to have a double mastectomy（1） to prevent breast cancer may have stunned fans of the Oscar-winning actress, but doctors say her choice is shared by many other women with a high genetic risk for breast cancer.

Jolie, who described her surgery and three-month recovery at length in an opinion piece in the New York Times on Tuesday, says she hopes her experience will encourage other women with a family risk of breast cancer to get tested.

Cancer experts said that Jolie's treatment was an informed choice - reducing her risk of developing cancer from 87 percent to less than 5 percent - and hope that it can help frame the discussion for patients facing a similar decision.

For years, researchers have been warning about increases in the use of preventive mastectomy among women with lesser risks than Jolie. A study by Dr. Michel Sable of the University of Michigan Medical School last November found that 70 percent of breast cancer patients who receive a double mastectomy don't have a clinical reason for getting the procedure. In 90 percent of those cases, fear that a cancer might come back was the reason for the decision, the researchers found.

Dr Isabelle Bedrosian, a surgical oncologist at MD Anderson Cancer Center in Houston, calls that approach "overkill," as there is no proof that a double mastectomy helps women who have had breast cancer in one breast.

That was not the case with Jolie, who did not have cancer but sought treatment because of her family's high risk of breast cancer. "Angelina Jolie's situation is very different. In her context, I think moving ahead with a double mastectomy is appropriate and is fully justified oncologically as well," she said.

Jolie tested positive for a harmful mutation（2） in one of the BRCA genes, making her about five times more likely to develop breast cancer than women who do not carry this mutation, according to the U.S. National Cancer Institute.

Mutations in the BRCA 1 and BRCA 2 genes can increase a woman's risk of breast cancer by 60 to 80 percent. Jolie's risk was amplified by the fact that her mother died from breast cancer at age 56, raising the stakes that she could have a cancer at a younger age.

Jolie said she underwent the surgery to spare her children from the agony she witnessed as her mother struggled with breast cancer for a decade.

That is the case for many women who seek out genetic counseling, said Dr. Susan Klugman, director of reproductive genetics at Montefiore Medical Center in New York, who has done BRCA testing on thousands of women. Klugman said counselors help women work through what it would mean to learn they are positive for the gene.

"Some women are overwhelmed with the information and some women truly feel empowered," said Klugman, adding that she has seen several women in their 30s and 40s with similar risks who chose a double mastectomy as a preventive step. "Angelina Jolie realized her mom died in her 50s. She's got six kids. She wants to live. These are the stories we see on a daily basis."

Mastectomies have advanced considerably from the days in which surgeons would remove vast amounts of tissue and skin, leaving women alive but disfigured（3）. Jolie underwent a series of procedures that preserved most of her skin and nipples, while the underlying tissue was removed.

Her doctors also used tissue expanders, which are deflated saline implants that are expanded over a period of several weeks during the recovery period and ultimately replaced by either a saline or silicone implant.

Other procedures can involve the use of tissue from other parts of the body, including fat tissue from the stomach. The whole procedure, including reconstruction, can cost as much as $75,000, according to the American Society of Plastic Surgeons, a cost private insurers generally cover, experts said.

"The reconstructions that are done these days are absolutely incredible, which is why I think that many more women choose to have prophylactic（4） mastectomies than they did in the past," said Dr Sharon Rosenbaum Smith, a breast cancer surgeon at St. Luke's Roosevelt Medical Center in New York.

"It is done from a very small incision that often is completely hidden either on the areola（5） or underneath the breast, so you basically see no scars," she said.

However, even among women for whom a double mastectomy could be potentially life saving, choosing to have this surgery is difficult.

She recently had an 82-year-old woman with breast cancer come in for genetic testing because her daughter wanted her to be tested. "She was positive, but her daughter then declined testing," Klugman said. "She was too nervous." Klugman said she hopes Jolie's decision to make her surgery public has removed some of the stigma. "A lot of people are afraid to talk about their genetics," Klugman said.

Deborah Capko, a breast surgeon at Memorial Sloan-Kettering Cancer Center in New York, urges all of her patients who get the surgery to first undergo genetic testing and counseling.

According to the National Cancer Institute, preventive mastectomy can reduce the risk of developing breast cancer in moderate- and high-risk women by 90 percent.

But there is no guarantee that the procedure will completely protect a woman. Breast tissue can sometimes be found in the collarbone or chest wall, for example. And like any surgery, there are is a risk of infection or excessive bleeding.

Myriad Genetics owns the patents for these gene tests, which cost between $3,000 to $4,000 each. Last month, the U.S. Supreme Court took up the issue of whether human DNA can be the subject of a patent and a decision in the case is expected next month. Experts believe a decision against Myriad would help reduce the cost of the tests and increase access.

For women with private insurance, the cost of treatment is usually covered, especially if they test positive for a BRCA mutation. President Barack Obama's health law made coverage of the BRCA test mandatory as a preventive health service since August 2012. New health plans that will be offered to millions of uninsured Americans in October must also cover the service for free.

（Reuters）

1.mastectomy（n.）乳房切除

2.mutation（n.）突變

3.disfigured（a.）走樣的、外觀受損的

4.prophylactic（a.）預防疾病的

5.areola（n.）乳房暈

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