PALB2 Interest Group is an international consortium of scientists and clinicians interested in PALB2 gene. We are always open to extending our collaborative network. Click here if you would like to join us.
Dr Marc Tischkowitz is a Reader in Medical Genetics at the University of Cambridge and an Honorary Consultant Physician in the Department of Medical Genetics at Cambridge. He completed his medical degree in 1993 and trained in Medical Oncology before completing his CCST in Medical Genetics. From 1999-2002 he undertook a PhD researching the role of Fanconi anemia gene mutations in the development of sporadic acute myeloid leukaemia. He held a Consultant post at Great Ormond Street Hospital before moving to McGill University, Montreal in 2005 where he worked on Faculty for six years before coming to Cambridge. Much of his research has been on the Fanconi Anemia genes and hereditary breast/ovary cancer predisposition but his interests cover all areas of hereditary cancer and translating the recent advances in genomic technology into clinical practice.
Professor Antoniou studied at the London School of Economics and Political Science and the University of Cambridge before gaining his PhD in Genetic Epidemiology at Cambridge in 2001. In 2013 he was appointed a Reader in Cancer Risk Prediction and was promoted to Professor of Cancer Risk Prediction in 2017. He currently leads a research group within the Department of Public Health and Primary Care and he is the Academic Course Director for the MPhil in Epidemiology.
Professor Antoniou’s main research is the development and application of statistical modelling techniques for addressing clinical questions, and the development of risk prediction tools which are used in clinical practice.
Professor Antoniou heads up a research group of 10 which focuses on two broad areas:
- The development and evaluation of risk prediction models for familial breast, ovarian, prostate and other common cancers.
- The characterisation of cancer risks for genetically susceptible individuals, such as those carrying mutations in the the BRCA1, BRCA2, PALB2, RAD51C and RAD51D genes.
Specific ongoing projects include:
CanRisk Programme, which aims to develop and validate quantitative tools for cancer risk stratification and prevention that take advantage of discoveries in both cancer genomics and epidemiology; the development of the BOADICEA risk prediction algorithm which can be used for predicting the risk of developing breast or ovarian cancer and the likelihood of carrying mutations in high risk genes; investigation of genetic modifiers of breast, ovarian and prostate risk for BRCA1 and BRCA2 mutation carriers using data from the Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA).
Professor Douglas Easton is currently Director of the Centre for Cancer Genetic Epidemiology within the Department of Public Health and Primary Care. He studied Mathematical Statistics at the University of Cambridge before gaining a PhD in Genetic Epidemiology at the University of London in 1992. In 1995 he set up the Cancer Research UK Genetic Epidemiology Unit at Cambridge, where he was a CR-UK Principal Research Fellow from 2001-2011. He was awarded Professorship of Genetic Epidemiology in 2003.
His main research interest is in genetic susceptibility to common cancers. The aim of his research group is to identify and characterise genetic variants associated with cancer risk, with particular emphasis on the hormone related cancers. Much of their recent work has focused on the analysis of genome-wide association studies (GWAS) to characterise common susceptibility variants, and the characterisation of susceptibility loci through fine-mapping. The group has conducted GWAS in breast cancer, prostate, endometrial and testis cancer. Prof Easton’s group also co-ordinates three large international consortia: the Breast Cancer Association Consortium (BCAC), Prostate Cancer Association Group to Investigate Cancer Associated Alterations in the Genome (PRACTICAL – a collaboration with Professor Ros Eeles) and (in collaboration with Dr Antoniou and Dr Georgia Chenevix-Trench) the Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA). Current work includes evaluating the role of rarer variants in breast and prostate cancer, and susceptibility to cancer-related traits including breast density, steroid hormones and telomere length.
Over the past 5 years Dr. Foulkes has worked on various aspects of inherited susceptibility to cancer. His main focus is on the clinico-pathological features of, and outcome following hereditary breast cancer and on detailed mutation analysis in hereditary colorectal cancer. He also works on familial prostate cancer.
My interest in DNA repair began during my PhD where I studied the function of base excision repair enzymes using budding yeast S. cerevisiae genetics. Since my Ph.D. was focused on base excision repair, I wanted to have a better knowledge of how the cell repairs double-strand breaks. I joined the laboratory of Dr Steve West (Cancer Research UK) for four years to study DNA repair by homologous recombination using biochemical and cellular approaches.
Our current work, in my own laboratory at the Laval University Cancer Research Centre, is divided between basic science studies of DNA repair and studies aimed at manipulating DNA repair pathways for therapeutic benefit. Basic science studies in the laboratory focus mainly on the characterization of the breast/ovarian PALB2 and BRCA2 proteins and Fanconi anemia enzymes in DNA double-strand break repair by homologous recombination. We are also currently developing synthetic lethal strategies, based on the function of some of these enzymes, to selectively kill ovarian and breast cancer cells.
Professor Pharoah qualified in Medicine from the University of Oxford in 1986. After a series of posts in internal medicine he worked for a year in Malawi on a leprosy vaccine trial. Then he completed his training in public health medicine before taking up a post as research fellow in the CRC Human Cancer Genetics group at the University of Cambridge in 1996. Having completed his doctoral studies in 1999 he won a Cancer Research UK Senior Clinical Research Fellowship. In 2004 his fellowship was renewed and he was successful in obtaining programme grant funding. On completion of his fellowship in 2009 he was appointed Reader in Cancer Epidemiology and then promoted to a personal Chair in 2012.
The major themes of the research programme of Professor Pharoah’s group are:
- Genetic susceptibility to ovarian cancer
- The role of germline genetic variation in determining clinical outcome after a diagnosis of breast or ovarian cancer.
- The molecular pathology of breast and ovarian cancer.
- SEARCH – an ongoing study of genetic susceptibility to the common cancers
Tuya Pal is a board-certified clinical geneticist based at the Moffitt Cancer Center, where she staffs all patients evaluated and tested through the Genetic Risk Assessment Service. For further information on Dr. Pal, please click here.
Image: Asteroidea Electrica, First Prize in the ZEISS photography competition 2014 at Cambridge University (cropped), Credit: ZEISS Microscopy