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Here you will find brief summaries about some of the research projects underway using the lifepool resource.  When researchers approach the Access Committee to request access to information held by lifepool, they are required to provide a short summary of their project plan. These are posted here to illustrate how valuable the data and samples provided by lifepool participants are for research.

Project LP001. Prof Ian Campbell: Validation of putative breast cancer susceptibility genes

Cancer occurs when individual genes within the body’s own cells become mutated (develops a fault) and stop working normally. To develop better ways of detecting and treating breast cancer we need to understand more about these faulty genes.

The task of finding one faulty gene among the approximately 22,000 genes in each cell of the body is difficult.  We know about some of the genes that cause breast cancer in families, such as BRCA1 and BRCA2, but these genes only explain about 1 in 5 breast cancer families.  We believe there are many other genes that remain to be discovered that cause breast cancer in families. Our aim has been to use new technologies to identify these genes.

Earlier work analysed the DNA from 130 women from 64 high-risk breast cancer families and identified the faulty gene in 9 of these families. We are confident we have found several new breast cancer predisposition genes.  We have close linkages with familial cancer clinics and they have passed on this new information onto the relevant families so they can make more informed choices about managing their risk of developing breast cancer.

The next phase of this work is to screen very large numbers of women to demonstrate that mutations in the new gene are only found in women with breast cancer (or a family history of breast cancer) but not in women without cancer. Lifepool is now recruiting a new batch of up to 10,000 DNA samples from willing participants.

Finding sufficiently large numbers of women without breast cancer to screen is difficult which is why lifepool is so important. The large number of women recruited into lifepool who are donating a DNA sample are assisting us in identifying new breast cancer genes and speeding up the process of translating our findings into the clinic.

Project LP002. Mr Kevin Nguyen: Australian and South East AsiaN (ASEAN) study of mammographic density

Mammographic density, the extend of the light white areas on a woman's mammogram, is a risk factor for breast cancer. This is therefore a potentially important tool for breast cancer research and prevention, just as blood pressure has been for cardiovascular disease. To date, the vast majority of research work in this area has been conducted on Causcasian women, and in this project we will focus on South East Asian women. We will use the lifepool project to determine the measured environmental and lifestyle factors that explain why South East Asian women who live in Victoria, especially Vietnamese born women, differ from each other in their mammographic density. We will also compare South East Asian women with Caucasian women to see if differences in mammographic density reflect the different breast cancer risks of these two groups of women.

Project LP007. Ms Mary-Anne Young: Development of a model of telephone genetic counselling to facilitate informed decision-making about clinically significant research results

Research studies conducting genomic screening where clinically significant genetic information is identified, e.g.pathogenic BRCA1/2 mutations, have previously returned these findings to participants via a notification letter. The aim of the notification letter is to inform research participants that genetic information had been identified which may have health implications for them or their family. The purpose in notifying people is so that they can choose whether or not to cliarify their genetic status and engage in risk reducing strategies to reduce their significant cancer risk and associated morbidity and mortality.

Evidence indicates that most research participants are enthusiastic and willingly consent to be notified about the availability of clinically significant research results however fewer than 50% of participants enrolled in some large cancer studies have followed up on the information contained in the notification letter. This qualitative interview study will investigate research participant's experience of receiving telephone genetic counselling and a notification letter from lifepool.

Project LP010. Prof Patrick Brennan: Comparison of breast density and cancer presentation between women in Australia and China

Breast cancer is the most common neoplasm diagnosed among women worldwide and it is the leading cause of cancer deaths. The recent wholescale migration towards digital screening environments offers the potential to optimise cancer detection using novel and established algortihms, however the assumption that breast compositions are consistent between global regions underestimates the complexity of the subject. The breast cancer prevalence and age of manifestation is different in China compared with westernised countries such as Australia and anecdotally the aggressiveness of the disease is higher; however little attention has been given to identifying the mammographic differences between Australia and China. This study aims to characterize the breast presentation/density and cancer image appearances in Chinese women compared to caucasian women who are lifepool participants. Based on this information, we will determine the optimim imaging technology for early detection of breast cancer.

Project LP015. Dr Carolyn Nickson:Analysis of the lifepool cohort to inform the ABACUS health economics model of breast cancer screening, diagnosis and treatment

BreastScreen Australia currently offers mammographic screening for breast cancer to women from the age of 40 years, with services targeted to women aged 50-74years. In the future it is possible that screening will be offered in a more personalised way, so that women are offered tailored screening strategies based on their estimated risk of breast cancer and the expected accuracy of different screening tests.

To help identify optimal strategies for personalised screening, we are developing a health economics model of breast cancer screening, diagnosis and treatment in Australia (the ABACUS model), through research funded by Cancer Australia. This model is being used to compare the costs, benefits and potential harms of different breast cancer screening strategies. To help specify this model, we will analyse lifepool participants' questionnaire data, mammograms, health service utilisation and health outcomes

Project LP020. Dr Hannah Bromley: Valuing the benefits and risks associated with treating low risk breast conditions

This study, conducted through the University of Melbourne, will gather information from women in the lifepool community about their understanding of, and attitudes toward different treatment choices for ductal carcinoma in situ (DCIS), a pre-cancerous condition of the breast identified by screening. The researchers will interview women who have had breast cancer and DCIS as well as women who have never been diagnosed with breast cancer.

During the interviews, women will be asked to fill in a questionnaire describing imaginary scenarios relating to possible treatments for DCIS, such as surgery, radiotherapy or active monitoring (having regular mammograms). For each of the imaginary scenarios, the researchers will ask how the woman might decide what treatment(s) to have.

The aim of the research is to help women make better informed choices about treating DCIS by exploring how different treatments might impact upon quality of life. Further information about the study can be found here

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