Searching for genes in breast and childhood cancers
Professor Nazneen Rahman is Professor of Human Genetics and Section Chair of Cancer Genetics at The Institute of Cancer Research. She leads two research teams who are making excellent progress identifying genes associated with an increased risk of breast and childhood cancers.
Childhood Cancer Syndromes
The Childhood Cancer Genetics Team is studying genetic conditions that can lead to childhood cancers. These include 'Aneuploidy-Cancer syndromes', where children have a variable number of chromosomes in some of their cells. This condition increases a child's risk of developing several types of cancer including rhabdomyosarcoma and leukaemia.
Professor Rahman's team is looking for genes that are linked to this condition and have identified an important fault in BUB1B. This gene plays a key role in cell division by ensuring that the chromosomes are equally distributed between the two daughter cells.
Researchers are now looking for more gene faults that contribute to Aneuploidy-Cancer syndromes. These findings will help doctors to understand how cancers develop in children with these genetic disorders and allow them to tailor treatments accordingly.
Inherited breast cancer genes
Professor Rahman also leads the Breast Cancer Genetics Team that is studying breast cancer in families where multiple people are affected. They are looking for genes in addition to BRCA1 and BRCA2 that account for these inherited cases.
The team is analysing samples from around 6,000 families with a history of breast cancer but who do not carry mutations in their BRCA1 or BRCA2 genes. By comparing their DNA, they hope to find new genes that affect a person's risk of developing this disease.
Work carried out in Professor Rahman's laboratory has already identified several genes that might play a role in inherited breast cancer. These findings are helping us to understand the genetic basis of this common disease. This information will allow doctors in the future to identify women at high risk of breast cancer, leading to improvements in diagnosis and treatment and a more tailored approach to their care.
Professor Rahman is also analysing the genes of 1,000 women with a family history of breast cancer, to find new genetic changes that increase the risk of the disease. This research is part of Cancer Research UK’s Genomics Initiative – a set of groundbreaking projects that are using the latest high-tech gene sequencing machines to track down the genetic faults driving different types of cancer. These projects will bring us a step closer to more personalised cancer treatment – making sure patients receive the treatments that will work best for them.
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Other research projects by Nazneen Rahman
Funding period: 01 July 2008 to 30 June 2013
Exome analysis of 1000 individuals with familial breast cancer to identify new breast cancer predisposition genes
Funding period: 01 August 2011 to 31 July 2013
Heterogeneity of familial medulloblastoma and contribution of germline PTCH1 and SUFU mutations to sporadic medulloblastoma.
DICER1 syndrome: clarifying the diagnosis, clinical features and management implications of a pleiotropic tumour predisposition syndrome
J Med Genet.2011;48 :273-278