April 2012
New breast cancer gene discovered
A large international study led by University of Melbourne researcher Melissa Southey has led to the discovery of a new gene which, if containing one of two mutations, leads to an increased risk of developing breast cancer in women. The study investigated families with a family history of breast cancer but without a known gene mutation, and found that those with a mutation in the XRCC2 gene were more susceptible to developing breast cancer.
The researchers used a technology called 'massively parallel sequencing' which allows DNA to be sequenced at high speed. Further work is being conducted around the world to determine how many cases of breast cancer result from a mutation in the XRCC2 gene.
For more information on this research, read the transcript of an interview with lead researcher Melissa Southey, and Gerda Evans, BCNA member and Consumer Representative.
Do genetic risk assessments really help?
The delivery of cancer genetic risk assessment services has been reviewed by The Cochrane Breast Cancer Group. According to the review, risk assessment is the first step in the process in supporting those who visit family cancer clinics.
The review found that those who participated in a risk assessment more accurately understood their risk of developing breast cancer, had a better understanding of breast cancer and genetics, and had reduced anxiety and improved emotional wellbeing overall.
The authors of the review conclude that there are too few studies into the best way to deliver a cancer genetic risk assessment, and that further research is needed in this area.
To read the abstract of this review, visit the Wiley Online Library.
March 2012
Risk management for women with a strong family history of breast cancer, but with no known genetic mutation
University of Melbourne researchers have examined how women with a strong family history of breast cancer, but without a known genetic mutation, understand their risk of developing breast cancer. This study also explores how their understanding is related to breast screening behaviour.
The results showed that women were classified into one of five groups, including women who:
- don’t worry about cancer risk, but participate in screening anyway
- are concerned about cancer risk, and participate in screening
- are concerned about cancer risk, but do not participate in screening
- feel that developing cancer is inevitable (some had mammograms, others did not)
- feel that developing cancer is unlikely (some had mammograms, others did not)
Given the main source of advice for many of these women was their general practitioner, the researchers highlighted the importance of general practitioners being informed about the resources and appropriate support services available to these women.
To read the full text of the article, visit the Hereditary Cancer in Clinical Practice website.
Women with BRCA1 gene mutation respond better to chemotherapy before surgery
Research from the University of Texas in the United States was conducted to determine whether women with a BRCA gene mutation respond to treatment differently than women without mutations. The research found that, in 46% of women with a BRCA1 gene mutation, all traces of breast cancer were removed after neoadjuvent chemotherapy (which is chemotherapy given before surgery, to shrink a tumour) regardless of their stage of disease. In comparison, neoadjuvent chemotherapy removed all traces of breast cancer in 13% of women with a BRCA2 gene mutation, and 22% of women with no gene mutation.
The results from this small study highlighted that BRCA1 breast cancers were more responsive to anthracycline and taxane-based chemotherapy drugs than BRCA2 cancers or those with no gene mutation. Whilst the results are interesting, the researchers recommend that larger studies be conducted to confirm the findings.
To read more information about the research, visit the Medical News Today website.
Women in the United States with genetic mutations being diagnosed earlier than older family members
Research from The University of Texas, has found that women diagnosed with a BRCA1 or BRCA2 genetic mutation are being diagnosed with breast cancer nearly eight years earlier than older relatives. The researchers identified 132 women who had been involved in a clinical cancer genetics program from 2003-2009, who had a BRCA gene mutation, and who had been diagnosed with breast cancer.
After reviewing the women’s medical family tree, the researchers found that 106 women had a family member in the generation before them who had been diagnosed with breast or ovarian cancer. Women in the younger generation on average were diagnosed at age 42 compared to age 48 in the generation beforehand.
The researchers highlighted that women with a BRCA mutation should be screened in light of the American guidelines (including mammography, MRI and possibly prophylactic mastectomy). It also highlighted that the use of MRI screening in the younger generation could account for women being diagnosed at a younger age.
To read more information about the research, visit the University of Texas MD Anderson Cancer Centre’s website.
June/July 2011
Compliance to screening recommendations
Researchers in Canada have surveyed women without breast cancer who have a family history, to determine how they comply with breast and ovarian screening recommendations. Women aged 40-49 at a moderate or high risk of breast cancer, were more likely to have had a mammogram in the past 12 months, and women under the age of 50 were more likely to have had a clinical breast examination in the same time period, compared to women at a low risk of breast cancer.
Those women at a higher risk of breast cancer were more likely to have undertaken genetic testing compared to women with a low or moderate risk. The authors concluded that women at a higher risk of breast cancer are more likely to comply with screening recommendations than women at a lower or medium risk.
To read the abstract, visit the European Journal of Cancer Prevention.
May 2011
Predictors of contralateral breast cancer in gene mutation carriers
Research published in the British Journal of Cancer, has estimated the risk of contralateral breast cancer (the occurrence of a second, primary breast cancer in the other breast after an initial diagnosis of breast cancer) in BRCA1 and BRCA2 gene mutation carriers. The results highlighted, that for women with a BRCA1 gene mutation, the 15 year risk of developing a contralateral breast cancer was 36.1% and 25.8% for women with a BRCA2 gene mutation.
The results also highlighted that women who were diagnosed with their initial breast cancer under the age of 50, were significantly more likely to develop a contralateral breast cancer within 15 years compared to women who were diagnosed over the age of 50. Women over the age of 50 with two or more first degree relatives (mother, sister, or daughter) with breast cancer were at a greater risk of developing contralateral breast cancer than those women with less or no first degree relatives with breast cancer. The researchers did state that risk was reduced in young women who underwent an oophorectomy (removal of her ovaries).
To read the abstract of this article, visit the British Journal of Cancer’s website.
If you would like to read more about family history and breast cancer, please visit BCNA’s Breast cancer in the family webpage or our Family history and hereditary breast cancer Fact Sheet.
April 2011
Family history
A magazine style article published in Cancer World, which is a European journal, examines the impact of genetic testing on women who have a strong family history of breast cancer, or a known gene mutation. The article highlights the importance of ongoing support for these women, and the impact on family members. It should be noted that many of the gaps identified in the system are particular to the European context. We are fortunate in Australia to have a network of family cancer clinics which often provide the necessary support and information that women and their families require.
- To read the full text of this article download the journal from the Cancer World’s website.
- To find out more about genetic testing visit BCNA’s Family history and hereditary breast cancer webpage.
- To find cancer clinics in Australia visit Cancer Council Australia's website
Breast cancer incidence in women with BRCA gene mutation undergoing MRI surveillance
Research from Canada has found that women with the BRCA gene mutation, who undergo annual MRI surveillance, are more likely to have a breast cancer detected earlier than those undergoing regular surveillance. They found no statistical difference in the number of breast cancers detected in women undergoing MRI, compared to normal surveillance methods.
The results of this research are quite technical and contain a lot of medical jargon. If you would like to read more visit the Journal of Clinical Oncology’s website.
March 2011
Reasons for undertaking a risk reducing mastectomy
Researchers from Canada surveyed 246 women with a family history of breast cancer (either a BRCA 1 or BRCA 2 gene mutation) to examine why they decide to undertake risk reducing mastectomy.
Women who had a sister or mother who had previously been diagnosed with breast cancer were more likely to undergo risk reducing mastectomy than those women whose sister or mother hadn’t been diagnosed. For those women who thought their chance of developing breast cancer was greater than 50%, they were more likely to undertake risk reducing mastectomy as well.
The main reasons for women undertaking risk reducing mastectomy included fear of a breast cancer diagnosis, previously being diagnosed with breast cancer and concern for their children.
To read the abstract of this article, please visit the journal’s website The Breast.
February 2011
The impact of family member’s pathology confirmation on surveillance recommendations
Research from the United Kingdom has found that the way that an individual’s family history of cancer is communicated to health professionals can be different to the reported pathology contained in medical records. These discrepancies can affect surveillance recommendations for that individual. The research found that discrepancies were related to the location of the cancer and how closely they were related to the patient. In reviewing the records, the surveillance and risk management strategies were changed in 20% of the cases.
To find out more visit the SpringerLink website.
December 2010
More options for young women with a strong family history of breast cancer
Research presented by Dr Mark Robson at the Clinical Oncological Society of Australia (COSA) Annual Scientific
Meeting has found that young women at risk of developing breast cancer due to a hereditary gene mutation are opting in greater numbers to undertake prophylactic mastectomies to reduce their risk of breast cancer.
Dr Robson said this could be because the risk of women who carry a gene mutation developing breast cancer is said to be around 87%. He said, however, that he believed this figure was too high, and that the research on which it was based was questionable.
Dr Robson said that women should also consider other options available to them, including surveillance by MRI.
To find out more about this research read the press release from the COSA conference.
BRCA mutations more common in triple negative breast cancer than previously thought
Researchers have found that the incidence of BRCA gene mutations in women with triple negative breast cancer appears to be greater than previously thought. In a recent small study of 77 women, 20% (or 15 women) who were diagnosed with triple negative breast cancer were also found to have a BRCA mutation. The majority of women with a BRCA mutation were diagnosed with BRCA1 mutations (12). While researchers have known for a long time that women with BRCA mutations are more likely to develop triple negative breast cancer, they were surprised to see that women with triple negative breast cancer were also more likely to have BRCA mutations.
The researchers highlight that if the findings can be replicated in future larger studies, they could have implications for the treatment of triple negative breast cancer. The researchers suggested that the results highlight the need to consider offering genetic testing to women diagnosed with triple negative breast cancer, and to other family members who may also be at risk.
To find out more about this research visit the Medconnect website.
Predictors of breast cancer screening behaviour in women with a strong family history of the disease
Research from Australia have examined how often women who have a strong family history of breast cancer, but who have not been diagnosed, undertake screening, to determine the factors that predicted their under or over -screening in relation to national guidelines.
Researchers followed 748 women and three years later at follow-up, found that 16% of women in the sample under-screened, 10% over-screened with mammography, 55% under-screened with clinical breast examination (a doctor performing a breast examination) and 9% over-screened with breast self examination. Women in the study who had mammographic screening in accordance with the national guidelines were more likely to have been given specific recommendations to do so from a health professional.
Women who had under-screened on mammograms and clinical breast examination were more likely to not have received screening recommendations from a health professional and were younger with a self reported lower perceived risk of breast cancer, despite actually having a higher risk. Those women identified as over-screeners for breast self examination were more likely to have higher levels of cancer anxiety and were more likely to have been told to undertake breast self examination by health professionals.
The authors highlight that women with strong family history of breast cancer, need to receive accurate advice from respective health professionals and to ensure that women act on these screening recommendations.
For more information please visit the US-based SpringerLink website.
November 2010
Ovarian removal a go ahead for women at a high risk of ovarian cancer
A new statement released by the Society of Gynaecological Oncologists have stated that women at high risk of ovarian cancer due to a BRCA1 or BRCA2 gene mutation, should consider undertaking ovarian removal (referred to the in the article as risk reducing prophylactic bilateral salpingo – oopohorectomy BSO) once child bearing is complete. The authors highlighted that women who are BRCA gene mutation carriers have a 10-60% risk of developing ovarian cancer over their lifetime, compared to the general population.
It is important to remember that each person’s situation is different. If you are considering these options, and haven’t been in contact with a family cancer centre, you may like to find your local centre by clicking here.
To find out more information about the new guideline please visit the Society of Gynaecological Oncologists website.
The importance of paternal history
Researchers have found that while health professionals and the public are aware of the importance of examining a women’s maternal history of breast cancer, examining the paternal history is not as well understood. Both men and women, who carry the BRCA1 or BRCA2 gene mutation, have a 50% chance of passing this on to their children.
The researchers found that on occasion’s health professionals were not enquiring about a woman’s paternal family history of breast cancer – and that women often didn’t think to offer this information.
To find out more information about the research please visit the Breastcancer.org website.
To find out more information about family history of breast cancer, please visit the About breast cancer: breast cancer in the family section of our website.
2010
Communicating BRCA test results to family members amongst women at high risk of breast and ovarian cancer
Researchers from the United States surveyed 1,103 women who had undertaken BRCA testing and found that the majority (97%) shared their test results with at least one family member. Researchers found that older women were less likely to communicate their results with family members. Women who had an increased knowledge of hereditary breast and ovarian cancer risk screening, had received risk reduction recommendations and were satisfied with their test result were more likely to discuss their results with family members. The majority of women who had tested positive for the BRCA gene stated that at least one family member went on for further testing as a result of their result.
For more information about the research visit the Cancer Epidemiology & Biomarkers Prevention website.
Mammogram screening decisions in older women with a family history of breast cancer
Researchers spoke to 23 women over the age of 55 to determine how they make decisions regarding screening mammograms and found that women became aware of their risk when a family member was diagnosed with breast cancer and the need to “guard themselves” from breast cancer. Behaviours that women used to “guard themselves” included having mammograms, having health check-ups, undertaking healthy behaviours and thinking positive. Women reported great faith in mammograms and felt that a negative mammogram gave them peace of mind that cancer wasn’t present and reported that being called back for additional testing and delayed results lead to an increase worry.
Researchers therefore recommended that screening centres should take these concerns any reasons for delay or additional testing.
To review the research visit the Wiley website. Additional information is available on the BreastScreen Australia website
BRCA1 Breast Cancer Risk Linked To Other Genes
Researchers in the United States have found that women who carry a variant of the BRCA1 gene have a greater risk of breast cancer. Researchers lead by a team from the Mayo Clinic, have found particular pieces of DNA (called SNPS) that are linked to both triple negative breast cancer and estrogen receptor negative disease.
Researchers found that the 5 individual SNPS were not linked to a higher risk of ovarian cancer in women who are BRCA1 carriers. It is hoped that from the results, health professionals will be able to better understand the mechanics behind breast cancer development and one day, be able to differentiate those BRCA1 carriers who are at a lower risk or higher risk, and tailor their management strategies.
For more information about the research, please visit the Medical News Today website
September 2010
Risk reducing surgery in women with a strong family history of breast and ovarian cancer can save lives
Researchers have found that women with a strong family history of breast and ovarian cancer, who undertake risk reducing surgeries such as having their breasts and/ or ovaries removed, lived longer and nearly eliminated their risk of developing cancer. Of those women who had their breasts removed, no breast cancers were diagnosed. For those women who had their ovaries removed, they had a lower risk of ovarian cancer and breast and ovarian cancer mortality. To find out more about the research please visit the US-based PubMed website.
If you would like to find more information about family history and genetic testing see the Breast cancer in the family page of our website.
Breast cancer in men and perceptions of breast cancer risk
Researchers from the United States have found that women who had a male family member diagnosed with breast cancer, were less likely to discuss the possibility of undertaking genetic testing, compared to women who had female relatives diagnosed with breast cancer.
The researchers highlighted the need for women to talk to their health professionals about their risk, if a male family member has been diagnosed with breast cancer.
For more information about the research visit the Breastcancer.org website.
August 2010
Men carrying the BRCA2 gene at an increased risk of developing breast cancer
Research involving 321 families in the United Kingdom has found that men carrying the BRCA2 gene have a 1 in 15 chance of developing breast cancer before the age of 70 (the risk of men in the general population developing breast cancer is 1 in 1000). Researchers involved in the study highlighted the importance of men in families with the known BRCA2 gene talking to their doctor about their risk of breast cancer and to make sure that if they notice any changes in their breasts that they see a doctor.
To find out more information about the research visit the News section of our website.
Marketing genetic and genomic tests directly to consumers
With different organisations developing new genetic and genomic tests for various cancers and marketing them directly to consumers, the American Oncology Nurse Society (ONS) has developed a position regarding such practices. The ONS are concerned that marketing genetic and genomic testing to consumers will result in unnecessary surgeries, consumer preferences for tests that provide limited benefit, the chance of receiving false negatives and privacy risk involving such tests.
To overcome these risks the ONS has taken a position to educate consumers about the benefits and limitations of genetic and genomic testing and advocate for the development of culturally sensitive testing and information. The ONS are also advocating that patients receive pre-test information, counselling, are informed about the testing process and receive their results through appropriate follow up.
For more information please visit the Oncology Nurse Society website.
July 2010
Decisions about breast cancer chemoprevention
Research undertaken in the US has found that the hypothetical uptake of 'chemoprevention' is higher than the actual uptake rates.
'Chemoprevention' can be an option for women at high or very high risk of developing breast cancer, to reduce their risk. The name is somewhat misleading however, as chemoprevention actually involves women who haven't been diagnosed with breast cancer taking hormone treatment such as Tamoxifen -- not chemotherapy.
This review looked at previously completed research on the use of chemoprevention in women at high risk of developing breast cancer due to a known gene mutation or strong family history. The researchers also found that these women face complicated decisions regarding chemoprevention. In particular, women were concerned about the side effects and risk factors associated with chemoprevention, resulting in fewer women undergoing the treatment.
The authors recommend that further research is required to examine the decision and support strategies that women need when considering chemoprevention.
For more information about the research please visit the Journal of Clinical Oncology website.
The right time to make decisions about risk reducing surgeries
Research from Canada involving 22 women carrying the BRCA 1 and BRCA 2 gene mutation has found that women make decisions about risk reducing mastectomy (prophylactic mastectomy) or removal of their ovaries (oopohorectomy) when the time is right for them, and not immediately after receiving genetic test results.
Results from the research highlighted that women consider such a decision when it fits into their lives, they have had time to consider the decision and are ready to deal with the emotional impact of their decision. Women also need to feel that there are options available to them and any conflicts' regarding their decision have been resolved and that the health care system can accommodate their decisions.
These results provide an insight for health professionals who assist women who are considering undertaking breast cancer risk reducing surgeries. For more information regarding the research please see the PDF on the Wiley website and scroll to page 70. Please note that this file is very large (2.37MB) and may take some time to download.
June 2010
Telephone counselling beneficial
Research from the United States has found that women carrying the BRCA1 and BRACA2 genetic mutation benefited from a telephone counselling intervention following standard genetic counselling. Researchers followed 90 women who received standard genetic counselling or standard genetic counselling and follow up telephone counselling and measured their genetic test outcomes, anxiety and depression. Women who received the follow up phone counselling had less symptoms of depression, distress as a result of the genetic testing, and anxiety at 6 months compared to those women who had received the standard counselling. At 12 months there were no differences between the two groups. The results highlight that for women who are told they have a positive BRCA1/2 mutation, follow up telephone counselling can provide benefits to traditional counselling and can lead to a short term reduction in distress and anxiety.
For more information on this research visit the American Association for Cancer Research website.
Decision making for prophylactic mastectomy
Research undertaken in Canada with 10 women carrying the BRCA1 or BRCA2 mutation has found that (not surprisingly) the decision to have a prophylactic mastectomy is not a straight forward process, but one that involves many different personal factors. All women in the study reported a lightning bolt moment or an emotional event, such as receiving a positive result for genetic mutation for themselves or someone else in the family that helped them make their decision. The results highlight the multiple steps involved for women undertaking this decision and the need for supportive interventions that acknowledge this process. For more information visit the Oncology Nurses website.
Women missing out on genetic testing for breast cancer
Dr Graeme Suthers, chair of the Genetics Advisory Committee of the Royal College of Pathologists of Australia has called for more Australian women to have appropriate access to BRCA testing. Dr Suthers told Australian Doctor that state based and territory differences were resulting in limited access, awareness and education about genetic testing for women with a family history of breast cancer.
Dr Gillian Mitchell, director of the Familial Cancer Centre at the Peter MacCallum Cancer Centre in Melbourne highlighted that the National Breast and Ovarian Cancer Centre (NBOCC) have developed guidelines to assist GPs in deciding when women should be referred to a familial cancer clinic to undergo genetic testing. Dr Mitchell also reminded women and their families, that familial cancer clinics are very happy to receive a referral and they will make a decision regarding whether the referral is appropriate. To view the online copy of Advice about familial aspects of breast cancer and epithelial ovarian cancer a guide for health professionals visit the Cancer Australia website.
For more information on this article visit the Australian Doctor website.
March 2010
Contralateral breast cancer risk in BRCA1 and BRCA2 mutation carriers
Research conducted in the US has found that women from families with BRCA1 or BRCA mutations are at increased risk of developing contralateral breast cancer, a tumour in the other breast. The study looked at back at records of 2020 women from 978 families from 1996 to 2008. Women from families with the BRCA1 mutation were found to have a higher risk than women from BRCA2 families. Younger age at first diagnosis of breast cancer was also found to be a risk factor for developing contralateral breast cancer. The researchers concluded that these identified risk factors should be considered in treatment planning for women in these families.
Visit the Journal of Clinical Oncology website for more information.
Decision making and risk communication for women at high risk of developing breast cancer
A study from the US has found that women often overstate the risk of developing breast cancer and doctors overestimate the decrease in women's perception after counselling. Women's preference for prevention methods varied widely, but remained stable in individual women. The researchers suggest the findings provide insight into the decision making processes of women at high risk of developing breast cancer. It also shows the importance of doctors addressing women's preferences for preventative treatment and risk perception during counselling sessions.
Visit the Wiley InterScience website for more information on this study.
Risk after a negative BRCA1 or BRCA2 test result | 2010
Women in known BRCA1 or BRCA2 families, who have received a negative test result, are not at increased risk of developing breast cancer, research has found. Among 375 women who tested negative to BRCA1 and BRCA2, only two cases of invasive breast cancer and two cases of ductal carcinoma in situ (DCIS) were observed. Researchers had predicted that four invasive breast cancers would be found, however only two were observed. As the study found that these women were not at increased risk, it was recommended that they adhere to the current population-based screening guidelines.
Visit the breast cancer risks abstract for more information. In Australia, support to determine if your family is considered high risk can be found through the Familial Cancer Centre in your state.
December 2009
Receiving genetic testing results by telephone
A study in the US has looked at the acceptability of all women receiving test results for a BRCA 1 or BRCA 2 gene mutation by telephone. Researchers surveyed 107 genetic counsellors and 137 consumers, who had received their test results by telephone or in person. Interestingly, 92.5% of genetic counsellors reported that they provided BRCA 1 or BRCA 2 test results by telephone. Results did not show a difference in satisfaction between consumers receiving results by telephone or in person and most chose to receive results by telephone. Women who were given a choice between telephone and in person were significantly more satisfied than those who did not have a choice. Further, women who waited for a shorter time to receive results reported high levels of satisfaction. Researchers suggest these results support the use of telephone delivery of test results for a BRCA 1 or BRCA 2 gene mutation. In Australia, there is a strong focus on face-to-face reporting of genetic test results.
Visit the NBCI website for more information.
High-risk women and preventative Tamoxifen use
Researchers from the University of Michigan in the US have found that despite being given information about risk and the benefits of using Tamoxifen as a preventative measure only 6% of women at high-risk of developing breast cancer due to a strong family history of breast cancer were likely to take the treatment. The study involved 632 women at high-risk using a decision aid about Tamoxifen as a preventative treatment. After viewing the decision aid, 41% of women could accurately answer six questions about risk and benefits of Tamoxifen, and 63% could answer at least five of the six questions. While the women’s understanding of the risks and benefits was high, only 29% of women reported they would seek more information about Tamoxifen. Eighty percent of women reported side effects as a common concern.
Visit the SpringerLink website for more information about the study.
November 2009
Risk perception among high risk women
Risk perception varies greatly among women at high risk of developing breast or ovarian cancer due to a strong family history. A meta-analysis has found that women perceive risk differently from the risk assessments provided during genetic counselling. There are many factors that influence how individuals perceive risk and assess the benefits of behavioural changes. The researchers recommend that in order to increase behavioural change, such as surveillance screening, genetic counsellors need to understand the motivations of individuals.
Visit the NBCI website for more information.
June 2009
Disclosing genetic test results to children
New research has found a parent's decision to reveal BRCA1 and BRCA2 test results to children is determined by a range of complex factors, and may have some benefits for children. A study presented at the American Society of Clinical Oncology has found the factors that make disclosure more likely include the age of the children, a negative test result, previous open parent-child communication and a favourable attitude to genetic testing of children. Mothers who had a stronger intention to disclose results before undergoing the test were more likely to discuss with children. Recommendations included a focus on supportive interventions to assist parents to communicate results with their children.
Visit the American Society of Clinical Oncology website for more information.
BRCA1 and BRCA2 gene testing in women of different ethnicities
A large study involving over 45,000 women has found that BRCA1 and BRCA2 were found across all diverse ethnicities represented in the study. The study funded by the American Cancer Society found that women of African and Latin ancestry had a higher prevalence of BRCA1 and BRCA2 mutations than women of Western European ancestry. Promoting genetic testing to women of culturally diverse backgrounds is an important issue for health care professionals to consider.
Visit the NBCI website for more information.
Genetic testing being under utilised by high risk women in the United States
A study by the Dana-Farber Cancer Institute and Massachusetts General Hospital have found low numbers of women from high risk families are undergoing genetic testing for BRCA1 and BRCA2. Researchers analysed the survey results from 35,000 women from the United States, with about 1% of respondents considered high risk for developing breast cancer. Suggestions to improve the uptake of genetic testing include the development of decision support tools based on individual electronic medical records, as well as the dissemination of guidelines.
In Australia, guidelines can be downloaded from the Cancer Australia website.
For further infromation about this research visit the Medical News TODAY website.
May 2009
Latest information on the Federal Government's MRI rebate for high risk women
A series of questions and answers about the new breast MRI rebate for women at high risk of breast cancer is now available online. The rebate is for women under the age of 50 who are at high risk of developing breast cancer due to a strong family history or a genetic mutation. The rebate has been available to women since 1 February 2009.
To see the MRI question and answers page visit the Department of Health and Ageing website.
Understanding the genetics of breast cancer | 2009
An article published in The Internet Journal of Advanced Nursing Practice, provides a useful overview of the genetics of breast cancer. The article explains the role BRCA 1 and BRCA 2 gene mutations may play in a women's risk of developing breast cancer. The author highlights at risk groups and methods of detection and screening available.
For a full text version of this article visit Internet Scientific Publications website.
New recommendations for routine screening in the United States | 2009
Australian guidelines for women with a strong family history of breast cancer include referral to specialist cancer genetic services for genetic counselling and genetic testing. New treatment guidelines in the United States now also suggest women should be referred for genetic testing if they have a strong family history of breast or ovarian cancer. The guidelines were developed by The American College of Obstetricians and Gynaecologists, in conjunction with the Society of Gynaecologic Oncologists.
For more information see the full article on the Medical News TODAY website. You can download the Australian guidelines from the Cancer Australia website.
March 2009
Genetic discrimination and insurance
A study by the Centre for Genetics Education in New South Wales has found that Australians who have an identified risk of developing a genetically linked disease are being discriminated against by insurance companies. The study involved more than 1000 individuals who had attended genetic services clinics. Researchers verified 11 cases of genetic discrimination. Insurance industry guidelines state that insurers cannot compel people to have testing, but individuals are required to disclose the information about test results.
Visit the Genetics in Medicine website for more details.
Quality of life in Ashkenazi Jewish women
Researchers at the University of Haifa in Israel conducted a study looking at health related-quality of life (HR-QOL) in asymptomatic Ashkenazi Jewish women after a genetic test for BRCA1 and BRCA2 gene mutation. Both women with BRCA1 and BRCA2 mutations and non carriers were included, along with a control group. Results suggest women who tested positive for the BRCA1 or BRCA2 gene mutation demonstrated poorer physical functioning, emotional well being and overall HR-QOL than non carriers and controls.
These results highlight the importance of genetic counselling pre and post testing for women with genetic risk, or a positive test result.
Visit the ScienceDirect website for more information about the study.
Patient confidentiality after genetic testing
A special report in the March edition of The Lancet has discussed the practical and ethical issues around patient confidentially after a positive genetic test result. Dr. Gareth Evans from St Mary's Hospital in Manchester United Kingdom, suggests that a large number of breast cancer cases could be prevented or detected earlier if family history information is shared. He supports a change to the law in the United Kingdom, allowing more flexibility for medical professionals to be able to reveal results of genetic testing to family members. Changes to such laws would need to reflect that knowledge about genetics is continually improving.
Visit the Medical News TODAY website for the full report.
