|医生难言的事实| 研究显示BRCA 乳腺癌基因与患者生存率无关

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国际影视巨星安吉莉娜·朱莉娅“开创”了携带BRCA乳腺癌基因“根治”的理念。她为预防患乳腺癌，在已知高风险但尚未发病的情形下，依然做了双乳切除术。引起了社会和医学界的争议。

上周五，FDA批准了针对遗传性基因诱发乳腺癌创新药上市。这无疑是对那些明确自己携带阳性基因，却犹豫不决的女性一大利好消息。

是否患癌是一个问题，患癌症治疗后生存率则是另一个让医生难言的事实：没有什么大的区别！这是英国科学家研究2700例女性乳腺癌后得出的结论，此文发表在上周《柳叶刀肿瘤》杂志上。

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Young breast cancer patients with a BRCA gene mutation have the same chances of survival after treatment as those without the mutation, a new study finds.

BRCA mutations are inherited and increase the risk of breast and ovarian cancers. Between 45% and 90%of women with a BRCA mutation develop breast cancer, compared with about 12.5%of women in the general population.

"Our study is the largest of its kind, and our findings suggest that younger women with breast cancer who have a BRCA mutation have similar survival to women who do not carry the mutation after receiving treatment," said lead researcher Diana Eccles. She is with the University of Southampton and University Hospital Southampton NHS Foundation Trust, in England.

"Women diagnosed with early breast cancer who carry a BRCA mutation are often offered double mastectomies soon after their diagnosis or chemotherapy treatment," Eccles noted. " However, our findings suggest that this surgery does not have to be immediately undertaken along with the other treatment."

This study included more than 2,700 women in the UK, aged 18 to 40, who had recently been diagnosed with breast cancer for the first time. Twelve percent of the women had a BRCA mutation.

Most of the women (89%) received chemotherapy, 49% had breast-conserving surgery, 50% had a mastectomy, and less than 1% had no breast surgery, according to the report.

Survival rates after two years were 97%for women with aBRCA mutation and 96.6%for those without the mutation, the findings showed. After five years, survival rates were 83.8%and 85%, respectively. After 10 years, those rates were 73.4% and 70.1%, respectively.

The results were the same whether mutations were in the BRCA1 or BRCA2 gene, according to the study published Jan. 11 in The Lancet Oncology.

"In the longer term, risk-reducing surgery should be discussed as an option for BRCA1 mutation carriers in particular, to minimize their future risk of developing a new breast or ovarian cancer," Eccles said in a journal news release.

"Decisions about timing of additional surgery to reduce future cancer risks should take into account patient prognosis after their first cancer, and their personal preferences," she added.

Eccles and her colleagues noted that the findings might not apply to older breast cancer patients with a BRCA mutation.

In a commentary accompanying the study, Peter Fasching from Friedrich-Alexander University Erlangen-Nuremberg, wrote: "Understanding prognosis in young patients is important because patients with BRCA mutations are at increased risk of developing specific conditions, such as secondary cancers."

Fasching added that "these risks determine treatment, and knowing that BRCA1 or BRCA2 mutations do not result in a different prognosis might change the therapeutic approach for these risks."

Therefore, he concluded, "This important topic needs more prospective research, as preventive surgical measures might have an effect on what might be a very long life after a diagnosis of breast cancer at a young age."

In related news, the U.S. FDA announced Friday that they have approved the first drug aimed at treating metastatic breast cancers linked to the BRCA gene mutation. The FDA says it is expanding approval of Lynparza (olaparib) to include use against BRCA-linked tumors that have spread outside the breast.

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