Month: May 2012

The American Association for Cancer Research (AACR) Annual Meeting 2012 was held in Chicago, USA, directly after the Fourth BHD Symposium. The AACR meeting is one of the largest cancer research conferences in the world, with over 16,000 attendees from a wide range of disciplines. All areas of cancer were covered, including basic and clinical … Read more

Pulmonary cysts and pneumothorax are key indicators of BHD syndrome. However, very little is known about the pathophysiology of these lung cysts. A recent Japanese study of 9 families has now shown that not only are BHD cysts different from other blebs and bullae in the lung, they are also associated with dysfunctional mTOR signalling … Read more

This week we introduce Lindsay Middelton R.N., C.G.C, who is a genetic counsellor with the National Cancer Institute (NCI) of the National Institutes of Health, USA. Lindsay is part of the Urologic Oncology Branch at the NCI, which treats patients affected with inherited and sporadic forms of genitourinary cancer, and performs clinical trials as well … Read more

Mutations in genes such as FLCN and VHL are implicated in the development of renal cell carcinoma (RCC). However, DNA methylation and transcriptional silencing at gene promoters can also be involved, as is the case with RASSF1A, which is rarely mutated but often inactivated by promoter methylation in sporadic RCC (see Morris & Maher, 2010 … Read more