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Article
Supporting teachers to use genomics as a context in the classroom: an evaluation of learning resources for high school biology
As genomics becomes embedded into healthcare, public genomic health literacy is critical to support decision-making for personal and family health decisions and enable citizens to engage with related social is...
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Article
Oncologists’ perspectives of telephone genetic counseling to facilitate germline BRCA1/2 testing for their patients with high-grade serous ovarian cancer
Poly ADP ribose polymerase (PARP) inhibitors offer a survival advantage to women with high-grade serous ovarian cancer who have a germline BRCA1/2 pathogenic variant (PV). Yet, rates of genetic testing among this...
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Article
A framework for youth-friendly genetic counseling
Young people represent a unique cohort in the context of both healthcare and genetic risk. Genetic counselors have long recognized and documented the challenges of working with young people and their families ...
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Article
Development and pilot testing of a leaflet informing women with breast cancer about genomic testing for polygenic risk
The inclusion of polygenic risk scores in breast cancer risk prediction models provides a more personalised and accurate prediction of breast cancer risk for women with and without breast cancer, who would oth...
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Article
High-risk women’s risk perception after receiving personalized polygenic breast cancer risk information
Evidence is accumulating of the clinical utility of single nucleotide polymorphisms to effectively stratify risk of breast cancer. Yet for this personalized polygenic information to be translated to clinical p...
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Article
Development and Pilot Testing of a Decision Aid for Genomic Research Participants Notified of Clinically Actionable Research Findings for Cancer Risk
Germline genomic testing is increasingly used in research to identify genetic causes of disease, including cancer. However, there is evidence that individuals who are notified of clinically actionable research...
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Article
Making Sense of SNPs: Women’s Understanding and Experiences of Receiving a Personalized Profile of Their Breast Cancer Risks
Genome wide association studies have identified a number of common genetic variants - single nucleotide polymorphisms (SNPs) – that combine to increase breast cancer risk. SNP profiling may enhance the accurac...
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Article
Consumer attitudes towards the establishment of a national Australian familial cancer research database by the Inherited Cancer Connect (ICCon) Partnership
Clinical genetics units hold large amounts of information which could be utilised to benefit patients and their families. In Australia, a national research database, the Inherited Cancer Connect (ICCon) databa...
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Article
Psychosocial morbidity in TP53 mutation carriers: is whole-body cancer screening beneficial?
Germline TP53 mutation carriers are at high risk of develo** a range of cancers. Effective cancer risk management is an important issue for these individuals. We assessed the psychosocial impact in TP53 mutatio...
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Article
Timing and context: important considerations in the return of genetic results to research participants
General consensus exists that clinically significant germline genetic research results should be fed back to research participants. A body of literature is emerging about Australian research participants’ expe...
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Article
Implementing a telephone based peer support intervention for women with a BRCA1/2 mutation
Women with a BRCA1/2 gene mutation face complex risk management decisions and communication issues that can lead to increased levels of distress and unmet needs. We describe the implementation of a peer-suppor...
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Article
Large genomic rearrangements in the familial breast and ovarian cancer gene BRCA1 are associated with an increased frequency of high risk features
Large genomic rearrangements (LGRs) account for at least 10 % of the mutations in BRCA1 and 5 % of BRCA2 mutations in outbred hereditary breast and ovarian cancer (HBOC) families. Data from some series suggest LG...
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Article
Unmet support needs and distress among women with a BRCA1/2 mutation
Distress levels among female BRCA1/2 mutation carriers can be similar to levels found among breast cancer patients. While psychological distress has been associated with unmet needs among cancer patients no study...
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Article
The consequences of risk reducing sal**o-oophorectomy: the case for a coordinated approach to long-term follow up post surgical menopause
Women with germline mutations in BRCA1 and BRCA2 genes have significantly increased lifetime risks of breast and ovarian cancer. To manage both the ovarian and breast cancer risks the current recommendation is un...
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Article
Implications for cancer genetics practice of pro-actively assessing family history in a General Practice cohort in North West London
At present cancer genetics referrals are reactive to individuals asking for a referral and providing a family history thereafter. A previous pilot study in a single General Practice (GP) catchment area in Nort...
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Article
Health Beliefs and Behaviors of Women Who Have Received Genetic Counseling For Breast Cancer
There are both genetic and behavioral risk factors for breast cancer, but the interaction between these factors is not clear. Little is known about the impact of receiving genetic risk information for breast c...
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Article
Screening behavior in women at increased familial risk for breast cancer
This multicenter study examined the adherence of high-risk women to screening recommendations for breast and ovarian cancer following consultation at a familial cancer clinic (FCC). Self-report questionnaires ...
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Article
A Qualitative Study of Health Professionals' Views Regarding Provision of Information About Health-Protective Behaviors During Genetic Consultation for Breast Cancer
This study aimed to explore health professionals' views and practice regarding the provision of information about health-protective behaviors (e.g., exercise, alcohol consumption, diet) during genetic consulta...
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Article
Educating Genetic Counselors in Australia: Develo** an International Perspective
The demand for genetic counseling services is increasing worldwide. This paper highlights the Australian experience of genetic counselor education and the history of the profession. The relevance of local fact...