很多肿瘤也是广义上的遗传病，存在遗传倾向。

估计约有四分子一的乳腺癌病例与遗传因素有关，有的基因已经比较明确，例如基因BRCA。这不需多说，安吉丽娜·朱莉(Angelina Jolie)的乳房已经吸引了世界太多的目光。

女性朋友都应该知道如何自查，什么样的信号可能与乳腺癌有关，时刻警惕：

包括：

局部乳房肿块或组织增厚，常提的橘皮样变化；

不明原因单次或双侧乳房大小或形状的改变；

莫名乳头外观的改变，例如出现内陷等；

乳头的莫名排出物；

腋窝肿块；

乳房皮肤的凹陷；

乳头区域类似皮疹的出现等。

对任何恶性肿瘤，及时发现都十分重要。乳腺癌也是如此，早期诊断是关键，发现的越早处理越容易，效果也将越好。

对于一个个体是不是有必要需要开展遗传学易感基因筛查。在英国的指导原则是：只有存在高风险的人群才有必要开展遗传性检查以明确是不是存在相关基因的突变，例如自己的母亲或是姊妹在40岁之前有人患了乳腺癌；男性则要求如果父亲或兄弟、儿子中无论何年龄有人患乳腺癌，都应该开展遗传学检查。

当一个个体发现自己存在乳腺癌家族史，而且通过遗传检测确实存在致病突变基因的话，这一结果无疑将该个体彻底笼罩于恐惧、忧虑和不安之中，让她难于承受如泰山压顶般强大的压力。安吉丽娜·朱莉正是因无法承受，干脆未雨绸缪，防患于未然，在毫无症状下提前选择了双侧乳房切除术。

另有一个问题无疑有家族史者十分关心：有乳腺癌家族史的患者经治疗后，是不是就意味着比没有家族史的人更容易复发，预后更差？

BritishJournal of Surgery最新文章分析了近3000例病例，所有患者都在41岁前就患了乳腺癌，其中三分之二病例没有家族史，三分之一有家族史。研究发现虽然遗传基因可以增加患乳腺癌的几率，但是在处理后肿瘤复发和扩散等指标上两者并无区别；即便是将乳腺癌按对激素治疗是否有反应（雌激素受体状态）划分成两类，然后看这两类各自内部在有无家族史患者间是否存在复发率的差别，也没有得到阳性结果。也就是说，存在家族史并不意味着在处理上，处理后的复发率和预后上与无家族史的散发病例有不同。这一结果在相当程度上可以消除有家族史的患者对自己乳腺癌处理后复发率上的过分忧虑。

论文链接：

http://onlinelibrary.wiley.com/doi/10.1002/bjs.9816/abstract;jsessionid=20242213179438E1B9882E5537782B67.f01t03

文题：Family history and outcome of young patients with breast cancer in theUK (POSH study)

摘要：

Background

Youngpatients presenting to surgical clinics with breast cancer are usually aware oftheir family history and frequently believe that a positive family history mayadversely affect their prognosis. Tumour pathology and outcomes were comparedin young British patients with breast cancer with and without a family historyof breast cancer.

Methods

ProspectiveOutcomes in Sporadic versus Hereditary breast cancer (POSH) is a largeprospective cohort study of women aged less than 41 years with breast cancerdiagnosed and treated in the UK using modern oncological management. Personalcharacteristics,tumour pathology,treatment and family history of breast/ovarian cancer were recorded. Follow-updata were collected annually.

Results

Familyhistory data were available for 2850 patients. No family history was reportedby 65.9 per cent, and 34.1 per cent reported breast/ovarian cancer in at leastone first- or second-degree relative. Patients with a family history were morelikely to have grade 3 tumours (63.3 versus 58.9 per cent) and less likely tohave human epidermal growth factor receptor 2-positive tumours (24.7 versus 28.8per cent) than those with no family history. In multivariable analyses,there were no significant differences in distant disease-free intervals for patients with versus thosewithout a family history, either for the whole cohort (hazard ratio (HR) 0.89,95 per cent c.i. 0.76 to 1.03; P = 0.120) or when stratified by oestrogenreceptor (ER) status (ER-negative: HR 0.80, 0.62 to 1.04, P = 0.101; ER-positive:HR 0.95, 0.78 to 1.15, P = 0.589).

Conclusion

YoungBritish patients presenting to breast surgical clinics with a positive familyhistory can be reassured that this is not a significant independent risk factorfor breast cancer outcome.

群晓科苑

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