Beyond BRCA1 and BRCA2: pathways to breast cancer

乳腺癌是一种非常常见的女性疾病，尽管在过去的二十年里已经取得了巨大的进步，但要提高我们对不同类型乳腺癌及其治疗的认识，仍有许多工作要做。该项目汇集了三名资深研究人员的专业知识：2名科学家和1名医学科学家。特伦奇博士感兴趣的是识别与癌症相关的基因，这些基因发生在有强烈家族史的患者身上。她将使用分子方法和凯瑟琳·坎宁安家族性乳腺癌和卵巢癌研究基金会登记的患者队列来确定相关基因，评估它们在人群中的分布，并确定这些基因是否也在非家族性癌症中发挥作用。Khanna博士的工作研究了负责维持DNA完整性的一系列复杂的酶，并调查了这些机制的失败如何导致遗传物质的破坏，最终导致癌症。众所周知，与家族易感性有关的基因编码起DNA修复酶作用的蛋白质。人们还知道，存在不同类型的乳腺癌，每种乳腺癌都有不同的行为和对治疗的反应，而且它们与特定的基因变化有关，包括与家族易感性有关的变化。拉哈尼教授的兴趣在于使用显微镜和最新的分子工具来完善这些不同类型的乳腺肿瘤的分类，以便他的外科和肿瘤学同事能够适当地处理它们。更好地了解不同类型乳腺癌的基因变化和潜在生物学将导致对患者的个体化和特异性治疗。这一计划汇集了国内和国际上独特的组合，在基因和细胞水平上研究癌症，并将信息翻译到临床，以利于患者管理。

Breast Cancer is a very common disease in women and although huge progress has been made in the last two decades, much remains to be done to improve our understanding of different types of breast cancer and its management. This program brings together the expertise of three senior researchers: 2scientists and 1 medical scientist. Dr Trench has an interest in identifying genes involved in cancers arising in patients who have a strong family history. She will use molecular methods and cohorts of patients enrolled with Kathleen Cunningham Foundation for Research into Familial Breast and Ovarian Cancer to identify the genes responsible, assess their distribution in the population and determine whether these genes also play a role in non-familial cancers. Dr Khanna's work examines the complex array of enzymes that are responsible for maintaining the integrity of the DNA, and investigates how failure of these mechanisms leads to damage of the genetic material which ultimately results in cancer. It is known that genes involved in familial predisposition code for proteins that work as DNA repair enzymes. It is also known that different types of breast cancer exist, each with differing behaviour and response to treatment and that they are associated with specific genetic changes, including those associated with a familial predisposition. Prof Lakhani's interest lies in using microscopy and the latest molecular tools to refine the classification of these different types of breast tumour so that they can be managed appropriately by his surgical and oncological colleagues. A better understanding of the genetic changes and underlying biology of different types of breast cancer will lead to individualised and specific therapy for patients. This program brings together a unique combination, nationally and internationally, that investigates cancers at the level of genes and cells and translates the information to the clinic for the benefit of patient management.