New insights into the role of gender in breast cancer development

乳腺癌研究recently发布了一篇文章关于研究男性乳腺癌的重要性BRCA1andBRCA2突变载体。在这里,我们要求Jonine Figueroa了解更多关于研究的信息。

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When we study the causes of cancer, we find there are many factors that contribute to the variations in incidence and type of the disease. One of these factors is性别。Gender certainly plays a major role in the incidence of breast cancers.

Breast cancer is so commonly diagnosed in women that we often forget that it also affects men. Male breast cancer (MBC) numbers aren’t huge – less than 1% of breast cancers occur inmen– but men have breast tissue too and about one in 1,000 US men will develop breast cancer.

旨在确定男女乳腺癌原因的研究可能会更好地了解适用于每个人的疾病的潜在机制。

Susceptibility genes

患有乳腺癌的密切亲属是乳腺癌的重要危险因素。

患有乳腺癌的密切亲属是乳腺癌的重要危险因素。乳腺癌敏感性基因1(BRCA1)和2(BRCA2)的突变赋予患有疾病的相当较高的风险,并与早期发病乳腺癌相关联families

Approximately 10% of MBC is associated with mutations in BRCA2, but many MBCs are diagnosed at much later stages than female breast cancers (FBC).

In order to assess differences in MBC and FBC among carriers of the BRCA2 mutation, the Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA) undertook a large pooling effort. Over 400 breast cancers in men with BRCA1/2 mutations were studied to see whether tumor characteristics of the male breast cancers differed from those of over 9000 BRCA1/2 female carriers.

男性乳腺癌诊断

The CIMBA analysis confirmed data from之前的工作在疾病的较高阶段诊断出患有男性的乳腺癌,这是由于延迟乳腺癌检测而被思考。

They noted that male breast cancers of BRCA2 mutation carriers were also of a higher grade, which is thought to reflect more aggressive disease.

他们指出,与女性相比,BRCA2突变载体的MBC也是较高的等级,这被认为反映了更具侵略性的疾病,并且更可能是与女性相比的雌激素受体阳性。

One of the most interesting findings was that MBCs diagnosed in BRCA2 mutation carriers were more likely to be of a higher grade at younger ages than breast cancers diagnosed in men from the general population. Why having a mutation in BRCA2 would differ in the presentation between MBC and FBC is a mystery.

重要的是要知道患有乳腺癌的男性患有BRCA2突变载体的男性可能会在较年轻的年龄显示更具侵略性的乳腺癌。预防意识活动和为高风险家庭提供遗传咨询的人可以强调这些信息,这可能导致男性早期诊断,当它可以更有效地治疗。作者注意到发现也可能影响MBC的管理,因为男性可能会受益于佐剂化疗。

最近的非遗传危险因素的大型分析MBC.表现出肥胖和更高激素水平也是这种疾病的重要风险因素。修改生活方式或其他增加这些风险因素的其他暴露的未来工作可能是预防疾病的另一个重要手段。

As the technology advances

今天的遗传技术正在加速关于肿瘤分子病理学的新发现,并且在这种精密药的时代,那些发现可能很快转化为更具针对性的治疗方法。

今天的遗传技术正在加速关于肿瘤分子病理学的新发现,并且在这种精密药的时代,那些发现可能很快转化为更具针对性的治疗方法。

未来的工作将包括看大型数据集评估MBC和FBC的肿瘤基因组。通过BRCA1 / 2突变状态等遗传因素分析肿瘤谱可以提供额外的见解。

Risk for MBC and FBC differ in terms of other low-risk susceptibility factors, so it will also be important to assess whether their tumors differ within large consortium. Limited data support differences in molecular pathology betweenMBC和FBC,因此通过预后的差异,例如BRCA2突变也可以假设。

乳腺癌是异质的,科学证据表明,与遗传因素相关的风险相差race/ethnicity那tumor pathologysubtypeand性别。As this recent publication shows, studies of well-defined patient subgroups, may provide new insights into the biological basis of breast cancer development and it’s hoped this can be translated into improved patient outcomes.

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2Comments

奥利弗·博勒

感谢您对本文的讨论以及其他近期男性乳腺癌的工作。虽然它令人振奋的是,看到对这种疾病的偶尔研究(我试着在MaleBrestCancerblog.org上审查我的博客上的新论文),现实是对男性乳腺癌的研究不足 - 自从我写过这篇文章以来,没有太大改变几年前(https://malebreastcancerblog.org/2013/05/02/6013/05/02/where-is-the-1-research-funding-for-thththththto-1-boreging-cancer-patiants-men/的)。As you say so well here, we won’t know what the differences are until we look.

j

谢谢奥利弗为您的善意评论。我认为意识正在增加,幸存者和其他倡导者向MBC引起关注是帮助增加资金的重要作品。保持伟大的工作!

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