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Article
Open AccessExploring the impact of the reclassification of a hereditary cancer syndrome gene variant: emerging themes from a qualitative study
The complexity of genetic variant interpretation means that a proportion of individuals who undergo genetic testing for a hereditary cancer syndrome will have their test result reclassified over time. Such a r...
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Article
Open AccessA tumor focused approach to resolving the etiology of DNA mismatch repair deficient tumors classified as suspected Lynch syndrome
Routine screening of tumors for DNA mismatch repair (MMR) deficiency (dMMR) in colorectal (CRC), endometrial (EC) and sebaceous skin (SST) tumors leads to a significant proportion of unresolved cases classifie...
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Article
Open AccessCorrection: When is a mutation not a mutation: the case of the c.594-2A>C splice variant in a woman harbouring another BRCA1 mutation in trans
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Article
Pilot study of an online training program to increase genetic literacy and communication skills in oncology healthcare professionals discussing BRCA1/2 genetic testing with breast and ovarian cancer patients
The increasing use of genetic testing for BRCA1/2 and other pathogenic variants in the management of women with breast and ovarian cancer necessitates increased genetic literacy in oncology healthcare professiona...
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Article
NTHL1-associate polyposis: first Australian case report
While familial adenomatous polyposis accounts for approximately 1% of all colorectal cancer, the genetic cause underlying the development of multiple colonic adenomas remains unsolved in many patients. Adenoma...
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Article
Open AccessWhen is a mutation not a mutation: the case of the c.594-2A>C splice variant in a woman harbouring another BRCA1 mutation in trans
Since the identification of BRCA1 there has only ever been described two bi-allelic mutation carriers, one of whom was subsequently shown to be a mono-allelic carrier. The second patient diagnosed with two BRCA1 ...
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Article
Open AccessThe curious case of a woman with two BRCA1 mutations in trans
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Article
Health professionals’ evaluation of delivering treatment-focused genetic testing to women newly diagnosed with breast cancer
Increasingly, women are offered genetic testing shortly after diagnosis of breast cancer to facilitate decision-making about treatment, often referred to as ‘treatment-focused genetic testing’ (TFGT). As under...
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Article
‘It’s the nature of the subject’: Secondary teachers’ disciplinary beliefs and decisions about teaching academic language in their content classes
The national curriculum (Ministry of Education, 2007) requires secondary school teachers in New Zealand to promote academic language learning in their content areas. However, it is unclear how subject teachers...
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Article
Open AccessHow should we discuss genetic testing with women newly diagnosed with breast cancer? Design and implementation of a randomized controlled trial of two models of delivering education about treatment-focused genetic testing to younger women newly diagnosed with breast cancer
Germline BRCA1 and BRCA2 mutation testing offered shortly after a breast cancer diagnosis to inform women’s treatment choices - treatment-focused genetic testing ‘TFGT’ - has entered clinical practice in speciali...
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The Meaning of Vital Signs
The four classic vital signs are respiratory rate, temperature, pulse rate and blood pressure. Although their measurement has been standard practice for over a century, there have been few attempts to quantify...
