"SUMMER 2004 NEWSLETTER DEAR READERS,"
SUMMER 2004 NEWSLETTER kConFab Kathleen Cuningham Foundation CONsortium for research into FAmilial Breast Cancer Published by kConFab, Peter MacCallum Cancer Centre, St Andrews Place, East Melbourne 3002, www.kconfab.org, phone (03) 9656 1542 DEAR READERS, It may seem that you only just have three approved research projects impressed with our achievements received a newsletter from us, but that will use the frozen breast tumours, in Australia in building up kConFab we have now decided to send them and one that will need to use frozen from scratch to what is now probably every six months because of the ovarian tumours. In addition, we the best resource in the world for positive feedback we received after anticipate that we will receive many research into familial breast cancer. the last newsletter sent out in May. requests to use the tissue collected There are now 7,667 participants in from prophylactic breast and ovarian kConFab from 855 families. This could Some kConFab participants asked surgeries, aimed at working out the not have been done without your help us to keep the issue of collecting fresh early steps that change a normal and continued participation. We realise surgical tissue on the front page of the cell to a cancer cell. Because of the that this may be an imposition on your newsletter so that they remember to difficulty of collecting material straight time, and we are very grateful. We let us know if they are having breast from surgery, and the restrictions to have no doubt that the research that or ovarian surgery. There is no doubt collecting biological specimens that stems from kConFab will improve the that these newsletters do serve as are being imposed in many countries outcome for women, and men, from a reminder as we always get several overseas, these fresh tissue collections families at high risk of developing phone calls soon after they are mailed. are probably the most important of breast cancer, and we hope that you So, please remember if you are having all the material that kConFab collects. share this vision. surgery and would like to donate tissue We have included with this newsletter to kConFab, phone your local kConFab a fridge magnet with a 1800 221 894 Sincerely, nurse (or Heather Thorne 03 9656 1542) contact number to make contacting Georgia Chenevix-Trench before the surgery so that we can make us easier. Chair, kConFab Executive Committee arrangements with the local surgeon and pathologist to collect the tissue In August we had our 7th kConFab at the time of the operation. This allows Annual Conference in Queensland, the tissue to be frozen, which preserves and as usual invited several world it much better than the standard leaders in familial breast and ovarian pathology storage protocols. We now cancer research. They were extremely 1 USE OF TISSUE THE kConFab CLINICAL FOLLOW DONATED TO UP STUDY HAS BEEN REFUNDED kConFab In November last year the Clinical questionnaire will contain a few Follow-Up Project was refunded new questions regarding the use We want to reassure our participants by the NHMRC for a further three of hormonal contraception, general that kConFab will only have access to years. This means we are able medications and complementary any ‘left-over’ tissue. When kConFab to continue sending questionnaires and alternative therapies. It will participants notify us about planned to kConFab participants, in order also ask about any new cancers surgery, the kConFab team always to update and collect information diagnosed, surgery performed and takes the following steps: regarding your health and lifestyle. changes of address. Even if your details have not changed during the • We contact the surgeon and the If you have not received a follow last 3 years, it is still important to pathologist involved with your up questionnaire before, you complete the questionnaire, as this surgery and discuss the possibility should expect to hear from us information is just as valuable to us. of kConFab having any tissue that approximately three years after you is left over after the pathologist has were first enrolled into kConFab. The It is difficult to design questions examined it. questionnaire takes approximately to suit everyone, so please don’t 20 minutes to complete and can hesitate to contact us if you are • We supply the surgeon and be posted back to us in the self- having any problems completing pathologist with a copy of your addressed envelope provided. your questionnaire. Our toll free signed kConFab consent form so We understand the questionnaire number is 1800 111 581. This line that they can be confident that you can arrive at a busy time in your life, is manned during normal office have consented to our project and so it is OK if you need to wait a few hours and 5 nights a week until have given permission for us to weeks before filling it in – although it 7pm (EST). We now have four access your surgical material. is helpful if you can let us know. For research assistants working on the the integrity and quality of the study follow up study including our • We attend theatre on the day it is important to follow up as many newest member Joel Murray. Joel of surgery. participants as possible in this way, brings a male perspective to our but if you prefer not to complete the research team. • We liaise with the pathologist questionnaire you can withdraw from who takes all of the tissue that the study at any time. Thank you again for taking the time is required to make an accurate to fill in your questionnaire. Please let diagnosis on the tissue removed. Thank you to everyone who has us know if you change your contact completed a questionnaire. We details. Your information is of great • Only then does kConFab obtain will be contacting some of you value to our ongoing research. any additional tissue for its again shortly with a second round research project. questionnaire, as it will have been Prue Weideman six years since you were first Clinical Follow up Coordinator • kConFab does not take any interviewed. The second round Toll Free number 1800 111 581 tissue until the Pathologist has taken everything needed for diagnostic purposes. Clinical Follow Up Team, left to right: Prue Weideman, • On some occasions we do not Joel Murray, Joanne McKinley. collect any tissue as there is not enough left over, for example if a biopsy is taken from a small lump. 2 Top: Dr Graeme Suthers (SA Clinical Genetic Services Left to right: Adelaide), Prof Bruce Ponder (Canbridge UK). Meryl Altree (kConFab SA research nurse), Prof Joe Sambrook (Founding Director, kConFab). Bottom, left to right: kConFab research nurses Anna Nash (WA), Helen Conlon (NSW), Beth Spear (VIC). kConFab PATHOLOGY REVIEW By kConFab pathologist Maurice Loughrey ‘BRCAX’ genes) are probably more women with a strong family history common than mutations in BRCA1 of breast cancer. Furthermore, if the and BRCA2 and may confer a lower BRCAX group can be subdivided into risk of breast cancer. smaller pathologically similar groups more likely to represent a common The current study involves examination underlying genetic cause, this may by a pathologist of the microscopic assist conventional genetic laboratory features of breast cancers from techniques in the identification of more BRCAX families, in the hope of genes that may be involved in the identifying a pattern or patterns development of breast cancer. that would establish a ‘fingerprint’ of BRCAX tumours. Similar studies Only a few studies looking at the A large study is underway looking looking at the pathology of breast pathology of BRCAX breast cancers at the pathological features of breast cancers in individuals who have have to date been reported and these cancers arising in families lacking a BRCA1 mutation have revealed have been on a small scale, with less mutations (faults) in BRCA1 and a distinctive pattern when the cells than 100 cases included. No strong BRCA2, or the so-called BRCAX are reviewed under the microscope, patterns have emerged. As the BRCAX families. The major breast cancer different from most sporadic tumours group is likely to represent multiple predisposition genes BRCA1 and and from BRCA2 associated cases. smaller groups, reflecting different BRCA2 were identified in the early This makes it theoretically possible underlying genetic causes, a large 1990s and mutations in these genes to predict possible BRCA1 mutation scale study is more likely to obtain account for only a minority of breast status from routine pathological significant results. cancer families. Despite intensive examination of a breast cancer using efforts since then, identification of the a standard microscope. Similarly, if The current kConFab study aims to genetic basis underlying the remainder a pattern or patterns emerge within study tissue from participants from of breast cancer families has had the BRCAX group of tumours, features 400 BRCAX families. Preliminary results limited success. Mutations (faults) in may be identified which allow us to should be available in early 2005. these unidentified genes (so-called predict the mutation carrier status in 3 TO KNOW OR NOT TO KNOW? By Tanya Wilson When I was 35 I went to my GP of At the time of my mastectomy and 12 of the young women’s breast cancer many years with a breast lump the doses of chemotherapy, I was a single support group I’d founded 4 years size of a ten cent piece. He knew my mother with daughters aged 5 and 7 earlier. It was definitely easier dealing aunt developed breast cancer in her and I’m an only child. I had to hide my with my diagnosis this time because 40’s but still assured me “it was fears and feelings from my daughters of all the support, experience and nothing to worry about” without and my mother who was terrified I knowledge I could get and share with ordering any tests. I never thought would die like her sister. others in the group. Some of these to seek a second opinion because I women had a breast cancer gene didn’t feel sick, I wasn’t tired and this For 6 months the chemotherapy was mutation and understood first hand man had looked after me for over 20 injected undiluted into my arm at my about the guilt, worry and the fear years. I trusted his opinion. Months surgeon’s office, with no opportunities I was feeling. later I felt a lump under my arm and to meet other young women enduring went to the local GP who found I had the same life crisis and no one to offer Over the next 13 months I had a breast cancer and it had spread to me hope and support. mastectomy, 8 doses of chemotherapy, the lymph nodes under my arm. 30 doses of radiotherapy, my ovaries Eventually I was referred to an removed and bi-lateral breast oncologist who suggested I be tested reconstruction. Had I known about my for a breast cancer gene mutation. gene mutation before I found my first Both my mother and grandmother lump, I know I would have been treated hadn’t had breast cancer but mum’s 2 differently by health professionals and cousins and only sister had developed I would also have taken preventative breast or ovarian cancer in their 40’s measures to reduce my risk of and all were deceased. Thinking I was developing breast cancer, but there is helping research and never imagining also the psychological side to knowing I would have a mutation, I consented and I would have had to live with that and was told my test results should too. I truly believe that if I’d known in take 12 – 18 months. It took 3 1/2 years my 20’s that my life now would be to find out I had a BRCA1 gene fault completely different but not necessarily (mutation). The news hit me hard. The better, I may have made different life chances of developing cancer in my decisions. I’m still yet to decide when remaining breast and ovaries were not to tell my daughters because I know my only concern. I was worried that the information I need to share my daughters may have inherited the with them may mean they have to gene mutation from me and what was make some painful decisions. I hope the best way to tell my mother and research like kConFab will advance our cousins about the result, if they understanding on how best to manage wanted to know? and clinically treat high risk families which will make the decision process I discussed prophylactic a lot easier for future generations. (preventative) mastectomy with my oncologist and surgeon. As I now The Young Ones breast cancer had a cyst in the other breast and a support group Victoria for women swollen internal gland. Thankfully the under 45. surgeon knew it was cancer, that it had spread to my internal nodes and Contact Tanya Wilson 041 123 5964. took immediate action. email@example.com http://members.optusnet.com.au/~ I now had a fiancé, 5 kids, I was tanya_wilson/html/homePage.htm working, we’d just moved further out of Melbourne and I was co-ordinater 4 kConFab PSYCHOSOCIAL STUDY request completion of a questionnaire up questionnaires and interviews and/or a telephone interview. The with women who first participated questionnaire usually takes around in the study 3 years ago. So, if it has 15 minutes, and asks about emotional been some time since you did the responses, thoughts and feelings, and questionnaire and interview, we may social support. The interview usually be re-contacting you soon to check takes around 45 minutes, and focuses whether you may be willing to do on recent stress or change. We work them again! Finally, we are planning flexible hours, and are happy to to do a smaller study focusing on the schedule the interview around experiences of women who have not participants’ family and work had cancer, but who have decided to commitments, and even contact have prophylactic surgery (i.e. breast Left to right: Judy Wilson, Nicky people who are living overseas. and/or ovaries removed to reduce Howard, Jenny McKenzie, Georgina the risk of getting cancer). If you have Banks and Melanie Price. A number of findings from several had this type of surgery, you may hear smaller studies that have been from us again to request completion conducted as part of this research of a survey asking about how you The Psychosocial Study is examining have already been published. For reached the decision to have the the role of stress, social support and instance, one of our recently published surgery, and how it has affected common psychological states such studies found that women who are at your life three years later. as anxiety and depression in the increased risk of breast cancer do not, development of breast cancer. overall, report greater psychological We are very grateful to all of the The study is being conducted from distress (such as anxiety and women who have participated in the the Department of Psychological depression) than women who are Psychosocial Study so far – thank Medicine at the Royal North Shore not at increased risk. Another survey you for so generously giving us your Hospital, Sydney, and is funded by conducted as part of the Psychosocial time for this research. Please do not the National Health and Medical Study examined the impact on hesitate to call our toll free numbers Research Council of Australia. kConFab women of receiving genetic below if you have any questions or mutation results. This study found that issues relating to the study that you The research is based on a although many women experienced would like to discuss. Also, please common belief that stress and other distress (when mutation-positive) make sure you notify us of any psychosocial factors may affect the or guilt (when mutation-negative) change of address or contact details. risk of developing cancer, in particular when they first learned of their results, breast cancer. It is not clear from these unpleasant feelings seemed Judy Wilson existing research whether these to diminish over time. A number of Psychosocial Study Coordinator factors can and do clinically alter benefits of learning their results were 1800 772 838 cancer risk – and if so, over what sort also identified by many participants, (Toll-free call Australia) of time frame. These are some of the such as feelings of relief and reduced 0800 888 340 questions we aim to answer, and this anxiety among mutation-negative (Toll-free call New Zealand) may result in identifying specific risk women, and reduced uncertainty factors that may be modified to and a greater sense of control among reduce cancer risk. mutation-positive women. Since mid-2001, approximately 1600 We are continuing to recruit both kConFab women have taken part in new and existing kConFab women the Psychosocial Study. As you may who do not have cancer, with the aim know, this is a long-term study, and we of recruiting at least 2000 participants. will contact participants a total of three Our largest achievement is that we times, at three-yearly intervals, to have started our first round of follow- 5 A NEW RESEARCH STUDY kConFab STUDY OF MEN FROM HIGH RISK BREAST CANCER FAMILIES Elizabeth Lobb, WA Centre for Cancer and Palliative Care, Perth, Western Australia This study will help us understand the faulty gene if a parent, brother or what it means to a man to belong to sister is a carrier of the faulty gene. If a high risk breast cancer family, and they inherit the faulty gene they have will assist in the development of a 50/50 chance of passing it on to genetic counselling models that are their sons or daughters. sensitive to men’s needs. We wish to understand men’s experiences of All men without cancer, and who are being part of a high risk breast cancer part of a high risk breast cancer family family, their attitudes towards being (except men who are at low risk, or at risk, their knowledge of breast partners of women at high risk) are cancer genetics and any anxiety invited to participate. or depression they may experience in coping with this family history. There are two stages to the study. Stage 1 involves a telephone interview This research is funded by the with men who have been to a familial National Health & Medical Research cancer clinic and is currently underway. Council because research in the past has mainly focussed on women in Stage 2 involves completing a high risk breast cancer families. Also, questionnaire. A detailed information fewer men than women come forward and consent form will be mailed in for predictive BRCA1/2 testing and January, 2005. If you feel you are perhaps misinformation about the unable to help with Stage 2 of the cancer risks to men explains why men study, we would be most grateful if are often under-represented in familial you could return the reply-paid “opt cancer clinics. out card”. If we don’t receive the card we will mail out the questionnaire that Although the risk of cancer in takes about 20 minutes to complete. males carrying a breast cancer gene mutation is lower than for women with For further information please the same fault, these men may be at contact: Liz Lobb on (08) 9273 8728 higher risk of developing cancer than or the toll free number 1800 993311 for men in the general population. or firstname.lastname@example.org They have a 50/50 chance of carrying MEN – WHAT USE ARE THEY TO kConFab? – LOTS! • By studying the males in the family breast cancer families and this can cancer than the general population. it helps us to track the disease be isolating for them. Their being Understanding what that risk is, through families. Even though males included helps them, their daughters and for which cancers, is likely to rarely develop breast cancer they and the study… A win win situation! be helpful in planning appropriate have a 50/50 chance of carrying the screening. Looking at how the genes faulty gene. If they inherit it they can • Although the risk of cancer in function in non-breast/ovarian tissue pass it on to their daughters. males carrying a breast cancer gene may help us understand their function. mutation is lower than that of women • Males often are left out of the family with the same fault, men may be at 6 discussions about genetic testing in a somewhat higher risk of developing MESSAGES FROM THE kConFab TEAM To keep kConFab running smoothly, some family members may already • It is very important that we are we would greatly appreciate if you know their own genetic testing notified of any new cases of cancer would remember the following: results, having attended a Family in your family. Research relies on Cancer Clinic. However, we know accurate and up-to date information • Because information is provided that others will not yet have been about the cancers in each of our to our participants by mail, it is to such a clinic. The notification participating families. We appreciate very important to keep your contact letter will provide details so that your help with this. details up to date. We may even all of those who are interested in ask you to send us the name of having a clinical genetic test can • Please notify kConFab if, at any another contact person, in case we do so with the support of a Family time, you prefer not to have more are unable to find you. Sometimes Cancer Clinic. Some family contact with our study. we need to contact family members may have told us that members when a gene fault has they do not wish to be notified if • Please tell your research nurse been identified that is relevant for kConFab finds a gene mutation if you change your address. your family. In this case, we write in their family. These people will notification letters to all participants not receive a letter. How can interested who indicated a wish to be informed about results of genetic • Please remember that fresh tissue families join kConFab? testing for the family. We do not specimens obtained at surgery are Ring any of the research nurses or supply individual research results, extremely valuable for research. the kConFab manager listed on the as our research testing is often Please ring your local kConFab next page, or, view our home page done under conditions less research nurse to inform her of to determine if your family meets our stringent than those needed for any surgery planned for treatment selection criteria: http://www.kconfab.org a clinical test. We understand that or prevention. /epidemiology/1eligibility.asp BREAST CANCER INTEREST GROUPS – USEFUL CONTACTS DRAGONS ABREAST AUSTRALIA We invite all breast cancer survivors Fourteen women living in diverse UNDER THE UMBRELLA OF BREAST and supporters to come and areas of rural and remote Australia CANCER NETWORK AUSTRALIA experience the magic that is part of make up the Rural and Remote Who are we? our unique team – not necessarily as Working Party, which meets monthly We are a group of breast cancer a paddler, there are many tasks that via teleconference. All members have survivors of various ages from a great we welcome assistance with! direct ‘grass root’ links to women from variety of backgrounds, athletic abilities rural/remote Australia through support and interests. http://www.dragonsabreast.com.au networks, advocacy groups and or ring National co-ordinator: representing women on committees High on our list of priorities is having Michelle Hanton Tel (08) 8941 8923 throughout Australia. fun, trying new things, meeting interesting people and being involved BREAST CANCER NETWORK The Rural and Remote Working Party in a challenging, physical activity whilst AUSTRALIA’S RURAL AND provides women living in rural and promoting breast cancer awareness. REMOTE WORKING PARTY remote parts of Australia with a powerful – BRIDGING THE DISTANCE voice, support and information. It strives We are under the umbrella of the At Breast Cancer Network Australia’s to identify and prioritise relevant issues, Breast Cancer Network, Australia – the National Summit in February 2002, develop achievable, sustainable national voice of Australians personally a group of women from rural and strategies that contribute to improving affected by breast cancer. remote parts of Australia met to the support, information and care of ‘network’ and discuss issues relevant women diagnosed with breast cancer Dragons Abreast provides a “face” to them. A number of unmet needs despite geographical location. for the breast cancer statistics whilst were identified and they agreed that spreading the message of breast further discussion and exploration For further details regarding the cancer awareness through participation was needed. From frustration came Rural and Remote Working Party in the wonderful and strenuous sport of determination and the formation of contact BCNA on 1800 500 258. dragon boat racing. the Rural and Remote Working Party 7 driven by consumers. BREAKING NEWS Realising the importance of tissue researchers working in the health and Hospital and Q.I.M.R. are members, collection and cell banks, the medical field will benefit from being to collect, process and disseminate Australian Government will provide able to get access to stored tissue and tumour tissue for research. more than $14.2 million to establish or cell samples or to national databases. extend eight national research facilities, Other successful applicants to receive including tissue and cell banks, in New Building on the important Australasian funding were the Australian Twin South Wales, Victoria, Queensland, Biospecimen Network at the Peter Registry, National Network of Brain Western Australia and the Australian MacCallum Cancer Centre in Victoria Banks, Cell Bank Australia, Breast Capital Territory. where kConFab has its home office Cancer Biospecimen Resource, and processing laboratories, more Australian Prostate Cancer Collaboration “The Scheme is designed to assist than $1.7 million over five years will (APCC) Bio-Resource. National health and medical researchers by establish an Australasian Biospecimen Population-based Genetic Epidemiology, providing support for specific facilities Network-Oncology, of which kConFab, Biospecimen and Bioinformatic and activities that will enhance the WA Research Tissue Network, Peter Resource, Australian Phenome Bank. national research effort,” the Health MacCallum Tissue Bank, Westmead Minister, Mr Abbott said. “All Australian Hospital and Westmead Children’s COLLABORATING FAMILY CANCER CENTRES Melbourne Sydney The John Hunter Hospital Perth Wellington – New Zealand Familial Cancer Centre Familial Cancer Service Hunter Valley Genetic Services of Western Australia Central and Southern Regional Peter MacCallum Cancer Institute Westmead Hospital Contact: Dr Tracey Dudding King Edward Memorial Hospital Genetics Services East Melbourne Westmead Phone: 02 4985 3132 Subiaco Wellington Hospital Contact: Ms Mary-Anne Young Contact: Assoc. Prof. Judy Kirk KConFab research nurse: Contact: Dr Ian Walpole Wellington South Phone: 03 9656 1199 Phone: 02 9845 6947 Helen Conlon or Professor Jack Goldblatt Contact: Dr Alexa Kidd kConFab research nurse: Beth Spear kConFab research nurse: Phone: 02 9382 2607 Phone: 08 9340 1525 Phone: 64 4 385 5310 Phone: 03 9656 1903 Monique Dyson kConFab research nurse: Anna Nash kConFab research nurse: Jane Wylie Phone: 02 9845 6845 Brisbane Phone: 08 9340 1610 Phone International: 64 9 307 7232 Royal Melbourne Hospital Queensland Clinical Genetics Service NZ local call: 0800 476 123 Familial Cancer Centre Prince of Wales Hospital Royal Children’s Hospital Tasmania Parkville Hereditary Cancer Clinic Bramston Terrace The Royal Hobart Hospital kConFab Co-ordinator Contact: Dr Geoffrey Lindeman Randwick Herston The Lauceston General Hospital Heather Thorne Phone: 03 9342 7151 Contact: Dr Kathy Tucker Contact: Dr Michael Gattas The North West Regional Hospital, Peter MacCallum Cancer Centre kConFab research nurse: Kate Pope Phone: 02 9382 2577 Phone: 07 3253 1686 Bernie Research Division Phone: 03 9342 4257 kConFab research nurse: kConFab research nurse: Contact: Dr David Amor Phone: 03 9656 1542 Helen Conlon Vicki Fennelly c/o VCGS Royal Children’s Hospital Email: email@example.com Victorian Clinical Genetics Service Phone: 02 9382 2607 Phone: 07 3636 5200 Melbourne The Murdoch Institute Phone: 03 8341 6300 Royal Children’s Hospital St George Community Hospital Adelaide or Dr Jo Burke Parkville Hereditary Cancer Clinic South Australian Clinical Genetics Royal Hobart Hospital Contact: Dr Mac Gardner Kogarah Services Phone: 03 6222 8296 Phone: 03 8341 6293 Contact: Dr Kathy Tucker Women’s and Children’s Hospital kConFab research nurse: Kate Pope kConFab research nurse: Kate Pope Phone: 02 9382 2577 North Adelaide Phone: 03 9342 4257 Phone: 03 9342 4257 kConFab research nurse: Contact: Dr Graeme Suthers Helen Conlon Phone: 08 8161 6995 Auckland – New Zealand Victorian Clinical Genetics Service Phone: 02 9382 2607 kConFab research nurse: Meryl Altree Northern Regional Genetics Services Monash Medical Centre Phone: 08 8161 6821 Auckland Hospital Clayton St Vincent’s Hospital or Susan Schulz 08 8161 6393 Auckland Contact: Ms Tarli Hall Family Cancer Clinic Contact: Dr Ingrid Winship Phone: 03 9594 2026 Darlinghurst Phone: 64 9 3737599 ext 3768 kConFab research nurse: Beth Spear Contact: Dr Robyn Ward kConFab research nurse: Jane Wylie Phone: 03 9656 1903 or Ms Rachel Williams Phone International: 64 9 307 7232 Phone: 02 8382 3395 NZ local call: 0800 476 123 kConFab research nurse: Monique Dyson Phone: 02 9845 6845 USEFUL WWW SITES KConFab – www.kconfab.org National Breast Cancer Foundation – www.nbcf.org.au Breast Cancer Network Australia – www.bcna.org.au Breast Cancer Research Association Inc – www.breastcancer.asn.au 8