BRCA突變改善了卵巢癌病患之存活


  March 19, 2008 — 末期卵巢癌病患且為非中歐猶太人(non-AJ)後裔BRCA突變者,相較於其他偶發性卵巢癌患者,有明顯較佳的存活利益;此一資料在佛羅里達坦帕所舉辦的婦產科醫學會第39屆年會婦癌專題中發表,支持之前研究所發現的中歐猶太人且有BRCA1/2突變者的卵巢癌病患有較佳的長期存活。
  
  資深作者、休士頓安德森癌症中心婦科腫瘤科副教授Karen Lu醫師在訪談中表示,最重要的是,有BRCA突變者的存活較佳;有兩篇研究曾經顯示有卵巢的猶太婦女且有BRCA突變者的存活較佳,但研究認為其他有此突變之種族的婦女也可能如此。
  
  本研究的第二個重點為,有BRCA突變者的存活利益不只侷限在中歐猶太婦女;Lu醫師表示,我們的資料顯示所有的卵巢癌婦女且有BRCA 突變者看似都可以改善存活。
  
  目前的研究包括了85名第3/4期卵巢癌、輸卵管癌、或者原發性腹膜癌的婦女,在1996年1月到2007年7月之間進行基因檢測發現有BRCA1或BRCA2突變,這世代也包括116名偶發性卵巢癌或者原發性腹膜癌而無乳癌或卵巢癌家族史婦女。
  
  Lu醫師等人發現,non-AJ BRCA基因突變之婦女比沒有BRCA突變者有較長的無惡化存活期(分別是27.8 和 19.0 個月);non-AJ BRCA基因突變之婦女的整體存活期間為101.4個月,沒有BRCA突變者的存活期間為65.6個月;non-AJ BRCA基因突變之婦女對初始化學治療有完整反應的比率是偶發性卵巢癌者的2.15倍。
  
  Lu醫師表示,對醫師而言,重點在於知道卵巢癌病患的BRCA 狀態,此知識或許可以幫助導引治療;目前有針對病患BRCA圖片的臨床製劑試驗。
  
  由Lu醫師等人所進行的另一篇相關研究發現,近十多年來實際接受基因諮商和BRCA檢測突變的卵巢癌婦女相當少,他們發現大部分的卵巢癌婦女不知道可以基因檢測,在未成年組則相當缺乏警覺。
  
  研究者要求這些不論是在癌症中心婦科部門或者私人診所就醫的卵巢癌病患,完成一篇有關BRCA檢測的知識與接受檢測意願的問卷;225 名婦女志願完成。
  
  這一組中,有56%(142/225) 報告指出她們未曾聽過BRCA 檢測;若依照種族分開計算,52%的白人婦女、69%的西班牙後裔婦女、88%的黑人婦女不知道 BRCA檢測;研究者也指出,檢測的警覺性和教育程度有關。
  
  Lu醫師向Medscape腫瘤學表示,所有的卵巢癌病患約10%有BRCA 突變,各組數量皆如此。
  
  大部分的(85.3%)病患表示,如果對治療有直接影響,她們願意接受BRCA 檢測;81.8%表示,即便只對他們的家人有利,也願意接受檢測;不過,對許多婦女而言,檢測費用是個問題,約有 68% 表示她們願意負擔的費用為檢測的20%,只有22.2%表示會對美金3,000元的檢測費用照單全收。
  
  Lu醫師表示,我們試著系統性篩選所有診斷為卵巢癌的婦女,照護卵巢癌婦女的我們,需要更系統的進行BRCA突變篩檢。

BRCA Mutation Improves Surviva

By Roxanne Nelson
Medscape Medical News

March 19, 2008 — Patients with advanced-stage ovarian cancer with non-Ashkenazi Jewish (non-AJ) BRCA mutations have a significant survival advantage over those with sporadic ovarian cancer. The data, which were presented at the Society of Gynecologic Oncologists 39th Annual Meeting on Women's Cancers, in Tampa, Florida, support previous research that found better long-term survival among ovarian cancer patients of Ashkenazi Jewish heritage with BRCA1/2 mutations.

"The first important point is that overall survival is better if you have the BRCA mutation," senior author Karen Lu, MD, associate professor in the department of gynecologic oncology at MD Anderson Cancer Center in Houston, Texas, said in an interview. "There have been 2 studies that showed improved survival in Jewish women with ovarian cancer who had BRCA mutations, and there has been a suggestion that this may be applicable to all carriers."

The second important take-away point from this study is that it showed that the survival benefit associated with the BRCA mutation is not limited to Ashkenazi Jewish women. "Our data show that all women with ovarian cancer who have the BRCA mutation do seem to have improved survival," said Dr. Lu.

The current study included 85 women with stage 3/4 ovarian, fallopian tube, or primary peritoneal cancer with a BRCA1 or BRCA2 mutation who received genetic testing between January 1996 and July 2007. The cohort also included 116 women with sporadic ovarian or primary peritoneal cancer without any family history of breast or ovarian cancer.

Dr. Lu and colleagues found that women who were non-AJ BRCA carriers had longer progression-free survival than those without BRCA mutations (27.8 vs 19.0 months). Overall survival was 101.4 months for carriers of non-AJ BRCA mutations and 65.6 months for noncarriers. Women with non-AJ BRCA mutations were also 2.15 times more likely to experience a complete response to initial chemotherapy than women with sporadic ovarian cancer.

"It is important for physicians to know the BRCA status of ovarian cancer patients," said Dr. Lu. "This knowledge may help guide treatment. There are new agents in clinical trials right now specifically for patients with BRCA mutations."

A second related study, also conducted by Dr. Lu and colleagues from the MD Anderson Cancer Center, found that despite being available for more than a decade, few women with ovarian cancer actually undergo genetic counseling and testing for BRCA mutations. They found that the majority of women with ovarian cancer were not aware of the availability of genetic testing and that the lack of awareness was most evident among certain minority groups.

The researchers asked all patients with ovarian cancer who were seen in the gynecology department of a cancer center or at a private clinic to complete a questionnaire regarding their knowledge of and willingness to undergo BRCA testing; 225 women voluntarily complied.

Of this group, 56% (142/225) reported that they had not heard of BRCA testing. When broken down by racial/ethnic group, 52% of white women were unaware of BRCA testing, as were 69% of Hispanic women and 88% of black women. The researchers also noted that awareness of testing correlated with the level of education.

"About 10% of all ovarian cancer patients have the BRCA mutation," Dr. Lu told Medscape Oncology. "That number is the same across all groups."

The majority of patients (85.3%) said that they would be willing to undergo BRCA testing if it would directly affect their therapy; 81.8% said that they would be willing to be tested even if it would benefit only their family. However, the cost of getting tested could present a barrier to many women. Although 68% said that they would be willing to pay 20% of the cost of testing, only 22.2% stated that they would pay the full $3000 testing fee.

"We are trying to systemically screen all women diagnosed with ovarian cancer," said Dr. Lu. "Those of us who take care of women with ovarian cancer need to be more systematic in how we screen women for the BRCA mutation."

Society of Gynecologic Oncologists 39th Annual Meeting on Women's Cancers. Posters 249 Abstract, 132. Abstract. March 9-12, 2008.

    
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