遗传性恶性肿瘤

德国汉诺威 —— 乳腺癌是致命性最强的恶性肿瘤之一,西方国家有十分之一的妇女都受到乳腺癌威胁。如果研究一下 100 名妇女的家族遗传史,每 15 人中就有 1 人的一级亲属曾有过罹患乳腺癌的经历。

事实上,调查显示曾有乳腺癌家族史的女性罹患乳腺癌的风险约为常人的两倍。 1994 95 年间,人们研究发现 BRCA1 BRCA2 两种基因是乳腺癌的致病元凶。上述基因的数十种变异形态增加了罹患遗传性乳腺癌和卵巢癌的可能性。 BRCA1 BRCA2 异常的女性罹患乳腺癌的终生风险高达 85% ,且 BRCA1 变异的女性罹患卵巢癌的概率约为 55% BRCA2 变异的女性患病比率约为 25% 。就在不久前,分析 BRCA1/BRCA2 变异基因携带者罹患乳腺癌风险的大规模 基因组 DNA 单核苷酸变异影响(即所谓的单核苷酸多态性,缩写为 SNP )研究已经证实存在所谓的改性单核苷酸多态性,这种改性单核苷酸多态性可以减小或加大个人终生罹患乳腺癌的风险。

我们还了解到只有 20-40% 的家族型乳腺癌起源于 BRCA1 BRCA2 生殖细胞突变 —— 这是一种与生俱来的人体细胞基因变异,而且可以遗传给后代。已知患乳腺癌的风险增加也与若干遗传综合症状相关,比方说利弗劳梅尼综合症,利弗劳梅尼综合症患者有可能在儿童期爆发软组织瘤、白血病和脑瘤等多种恶性肿瘤性疾病。但在多数家族性乳腺癌病例中,我们仍然很难确定遗传易感因素所起的作用。事实上,我们并未找到因发生突变造成罹患乳癌风险升高的相关基因。

To continue reading, please log in or enter your email address.

Registration is quick and easy and requires only your email address. If you already have an account with us, please log in. Or subscribe now for unlimited access.

required

Log in

http://prosyn.org/cjg5WLq/zh;
  1. Patrick Kovarik/Getty Images

    The Summit of Climate Hopes

    Presidents, prime ministers, and policymakers gather in Paris today for the One Planet Summit. But with no senior US representative attending, is the 2015 Paris climate agreement still viable?

  2. Trump greets his supporters The Washington Post/Getty Images

    Populist Plutocracy and the Future of America

    • In the first year of his presidency, Donald Trump has consistently sold out the blue-collar, socially conservative whites who brought him to power, while pursuing policies to enrich his fellow plutocrats. 

    • Sooner or later, Trump's core supporters will wake up to this fact, so it is worth asking how far he might go to keep them on his side.
  3. Agents are bidding on at the auction of Leonardo da Vinci's 'Salvator Mundi' Eduardo Munoz Alvarez/Getty Images

    The Man Who Didn’t Save the World

    A Saudi prince has been revealed to be the buyer of Leonardo da Vinci's "Salvator Mundi," for which he spent $450.3 million. Had he given the money to the poor, as the subject of the painting instructed another rich man, he could have restored eyesight to nine million people, or enabled 13 million families to grow 50% more food.

  4.  An inside view of the 'AknRobotics' Anadolu Agency/Getty Images

    Two Myths About Automation

    While many people believe that technological progress and job destruction are accelerating dramatically, there is no evidence of either trend. In reality, total factor productivity, the best summary measure of the pace of technical change, has been stagnating since 2005 in the US and across the advanced-country world.

  5. A student shows a combo pictures of three dictators, Austrian born Hitler, Castro and Stalin with Viktor Orban Attila Kisbenedek/Getty Images

    The Hungarian Government’s Failed Campaign of Lies

    The Hungarian government has released the results of its "national consultation" on what it calls the "Soros Plan" to flood the country with Muslim migrants and refugees. But no such plan exists, only a taxpayer-funded propaganda campaign to help a corrupt administration deflect attention from its failure to fulfill Hungarians’ aspirations.

  6. Project Syndicate

    DEBATE: Should the Eurozone Impose Fiscal Union?

    French President Emmanuel Macron wants European leaders to appoint a eurozone finance minister as a way to ensure the single currency's long-term viability. But would it work, and, more fundamentally, is it necessary?

  7. The Year Ahead 2018

    The world’s leading thinkers and policymakers examine what’s come apart in the past year, and anticipate what will define the year ahead.

    Order now