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Challenges in the management of a patient with Cowden syndrome: case report and literature review

We would like to present a patient with a classical phenotype of a rare disorder - Cowden syndrome, its diagnostics and management challenges. A breast surgeon has to be aware of this rare condition when treat...

Authors: Inga Melbārde-Gorkuša, Arvīds Irmejs, Dace Bērziņa, Ilze Štrumfa, Arnis Āboliņš, Andris Gardovskis, Signe Subatniece, Genādijs Trofimovičs, Jānis Gardovskis and Edvīns Miklaševičs

Citation: Hereditary Cancer in Clinical Practice 2012 10:5

Content type: Case report Published on: 14 April 2012
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The kConFab experience – 14 years of biobanking

Authors: H Thorne, E Niedermayr, L Williams, A Willems-Jones, L Djandjgava, K Ioculano and C Osinski

Citation: Hereditary Cancer in Clinical Practice 2012 10(Suppl 2):A95

Content type: Meeting abstract Published on: 12 April 2012

This article is part of a Supplement: Volume 10 Supplement 2
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Identification of copy number alterations associated with the progression of DCIS to invasive ductal carcinoma

Authors: C Johnson, KL Gorringe, ER Thompson, K Opeskin, SE Boyle, Y Wang, P Hill, GB Mann and IG Campbell

Citation: Hereditary Cancer in Clinical Practice 2012 10(Suppl 2):A93

Content type: Meeting abstract Published on: 12 April 2012

This article is part of a Supplement: Volume 10 Supplement 2
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Early exploration of two candidate breast cancer susceptibility genes identified by whole-exome sequencing

Authors: R Blanc, A Jammot, T Nguyen-Dumont, ZL Teo, FA Odefrey, F Hammet, DE Goldgar, DJ Park and MC Southey

Citation: Hereditary Cancer in Clinical Practice 2012 10(Suppl 2):A91

Content type: Meeting abstract Published on: 12 April 2012

This article is part of a Supplement: Volume 10 Supplement 2
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The use of the Illumina FFPE Restoration Protocol to obtain suitable quality DNA for SNP-based CGH– a pilot study

Authors: AN Hosein, S Cocciardi, J Jayanthan, S Song, P Simpson and G Chenevix-Trench

Citation: Hereditary Cancer in Clinical Practice 2012 10(Suppl 2):A85

Content type: Meeting abstract Published on: 12 April 2012

This article is part of a Supplement: Volume 10 Supplement 2
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Benign serous ovarian tumour: a redefining moment?

Authors: Sally Hunter, Kylie Gorringe, Michael Anglesio, Raghwa Sharma, Blake Gilks, Anna deFazio, David Huntsman and Ian Campbell

Citation: Hereditary Cancer in Clinical Practice 2012 10(Suppl 2):A83

Content type: Meeting abstract Published on: 12 April 2012

This article is part of a Supplement: Volume 10 Supplement 2
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Pathological diagnosis of ovarian cancer

Authors: Hilda High and Michael Friedlander

Citation: Hereditary Cancer in Clinical Practice 2012 10(Suppl 2):A82

Content type: Meeting abstract Published on: 12 April 2012

This article is part of a Supplement: Volume 10 Supplement 2
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Integrated genomic analysis and functional characterisation of novel oncogenes in ovarian cancer

Authors: SJ Davis, KJ Simpson, IG Campbell and KL Gorringe

Citation: Hereditary Cancer in Clinical Practice 2012 10(Suppl 2):A81

Content type: Meeting abstract Published on: 12 April 2012

This article is part of a Supplement: Volume 10 Supplement 2
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Primary treatment patterns in women recruited to the Australian Ovarian Cancer Study

Authors: J Hung, S Fereday, P Harnett, D Giles, B Gao, N Traficante, G Chenevix-Trench, A Green, P Webb, D Bowtell and A DeFazio

Citation: Hereditary Cancer in Clinical Practice 2012 10(Suppl 2):A80

Content type: Meeting abstract Published on: 12 April 2012

This article is part of a Supplement: Volume 10 Supplement 2
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Bone density loss after risk reducing salpingo-oophorectomy

Authors: L Andrews, B Zielony and C White

Citation: Hereditary Cancer in Clinical Practice 2012 10(Suppl 2):A79

Content type: Meeting abstract Published on: 12 April 2012

This article is part of a Supplement: Volume 10 Supplement 2
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State-wide population screening for Lynch syndrome? Improved ascertainment of at risk families

Authors: J Goldblatt, B Iacopetta, B Amanuel and L Schofield

Citation: Hereditary Cancer in Clinical Practice 2012 10(Suppl 2):A77

Content type: Meeting abstract Published on: 12 April 2012

This article is part of a Supplement: Volume 10 Supplement 2
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Loss of MSH6 and PMS2 immunohistochemical staining in tumour tissue of two individuals with a germline PMS2 mutation

Authors: E Edwards, M Bowman, M Walsh and J Kirk

Citation: Hereditary Cancer in Clinical Practice 2012 10(Suppl 2):A76

Content type: Meeting abstract Published on: 12 April 2012

This article is part of a Supplement: Volume 10 Supplement 2
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Colorectal tumour BRAF V600E and MLH1 promoter methylation status in the assessment of mismatch repair gene sequence variants of unknown clinical significance

Authors: M Parsons, B Thompson, D Goldgar, J Hopper, M Jenkins, D Buchanan, J Young and A Spurdle

Citation: Hereditary Cancer in Clinical Practice 2012 10(Suppl 2):A75

Content type: Meeting abstract Published on: 12 April 2012

This article is part of a Supplement: Volume 10 Supplement 2
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The InSiGHT approach to classification of mismatch repair gene variants

Authors: JP Plazzer

Citation: Hereditary Cancer in Clinical Practice 2012 10(Suppl 2):A72

Content type: Meeting abstract Published on: 12 April 2012

This article is part of a Supplement: Volume 10 Supplement 2
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Role of oncology/genetics nurse in management of individuals with hereditary diffuse gastric cancer

Authors: M Shanahan, MA Young and G Mitchell

Citation: Hereditary Cancer in Clinical Practice 2012 10(Suppl 2):A70

Content type: Meeting abstract Published on: 12 April 2012

This article is part of a Supplement: Volume 10 Supplement 2
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Searching for BRCA3 by exome sequencing

Authors: I Makunin, M Stark, M Gartside and G Chenevix-Trench

Citation: Hereditary Cancer in Clinical Practice 2012 10(Suppl 2):A68

Content type: Meeting abstract Published on: 12 April 2012

This article is part of a Supplement: Volume 10 Supplement 2
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Validation study of risk prediction models for female relatives of Australian women with breast cancer

Authors: R MacInnis, G Dite, A Bickerstaffe, J Dowty, K Aujard, C Apicella, K Phillips, P Weideman and J Hopper

Citation: Hereditary Cancer in Clinical Practice 2012 10(Suppl 2):A66

Content type: Meeting abstract Published on: 12 April 2012

This article is part of a Supplement: Volume 10 Supplement 2
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Familial platelet disorders with a predisposition to acute myelogenous leukaemia: a RUNX1 update

Authors: J Rossini, B Mercorella, S Townshend, C Vakulin, L Rawlings, X Li, C Hahn and H Scott

Citation: Hereditary Cancer in Clinical Practice 2012 10(Suppl 2):A64

Content type: Meeting abstract Published on: 12 April 2012

This article is part of a Supplement: Volume 10 Supplement 2
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Chemoprevention with the metabolism modifying drugs dichloroacetate and metformin in Trp53+/- mice

Authors: AC Blackburn, M Rooke, Y Li, JE Dahlstrom and PG Board

Citation: Hereditary Cancer in Clinical Practice 2012 10(Suppl 2):A62

Content type: Meeting abstract Published on: 12 April 2012

This article is part of a Supplement: Volume 10 Supplement 2
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Genetic testing and immunohistochemistry for SDHB in phaeochromocytoma-paraganglioma syndromes: the South Australian experience

Authors: NK Poplawski, L Rawlings, J Seymour, C Vakulin, A Tirimacco, DE Benn and AJ Gill

Citation: Hereditary Cancer in Clinical Practice 2012 10(Suppl 2):A60

Content type: Meeting abstract Published on: 12 April 2012

This article is part of a Supplement: Volume 10 Supplement 2
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Early experience in a breast and ovarian cancer risk management clinic in Malaysia

Authors: NA Taib, YL Woo, SY Yoon, R Kartini, MK Thong, CH Yip and SH Teo

Citation: Hereditary Cancer in Clinical Practice 2012 10(Suppl 2):A58

Content type: Meeting abstract Published on: 12 April 2012

This article is part of a Supplement: Volume 10 Supplement 2
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Improving the provision of Melbourne Health Familial Cancer services to Victoria’s Culturally and Linguistically Diverse (CALD) communities

Authors: Y Bylstra, M Kentwell, GJ Lindeman, I Winship and L Hodgkin

Citation: Hereditary Cancer in Clinical Practice 2012 10(Suppl 2):A56

Content type: Meeting abstract Published on: 12 April 2012

This article is part of a Supplement: Volume 10 Supplement 2
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What are the unmet support needs of women with a known BRCA1/2 mutation?

Authors: V White, A Farrelly, B Meiser, M Jefford, M Young, I Winship, S Ieropoli and J Koehler

Citation: Hereditary Cancer in Clinical Practice 2012 10(Suppl 2):A54

Content type: Meeting abstract Published on: 12 April 2012

This article is part of a Supplement: Volume 10 Supplement 2
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Use of unit standard paragraphs and letters in: 1. Australian Familial Cancer Centres 2. One Centre’s experience at Southern Health

Authors: C Smyth, C Holding, C Hunt, S O’Connell, E Johnson, N Gelfand and M Harris

Citation: Hereditary Cancer in Clinical Practice 2012 10(Suppl 2):A52

Content type: Meeting abstract Published on: 12 April 2012

This article is part of a Supplement: Volume 10 Supplement 2
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Audit of adherence to GI screening recommendations for Lynch Syndrome Patients

Authors: Lucinda Hossack, Omid Zarghom, Gillian Mitchell, Mary Shanahan, Craig Lynch, Alexander Heriot and Alex Boussioutas

Citation: Hereditary Cancer in Clinical Practice 2012 10(Suppl 2):A50

Content type: Meeting abstract Published on: 12 April 2012

This article is part of a Supplement: Volume 10 Supplement 2
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‘Next-generation’ genome wide association studies

Authors: J Hopper, E Makalic, D Schmidt, M Bui, J Stone, M Kapuscinski, D Park, M Jenkins and M Southey

Citation: Hereditary Cancer in Clinical Practice 2012 10(Suppl 2):A48

Content type: Meeting abstract Published on: 12 April 2012

This article is part of a Supplement: Volume 10 Supplement 2
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A genome-wide association study to identify genetic markers associated with endometrial cancer grade

Authors: T O’Mara, D Duffy, DJ Thompson, S Ahmed, K Ferguson, CS Healey, G Montgomery, M Shah, J Morrison, PP Pharoah, AM Dunning, PM Webb, DF Easton and AB Spurdle

Citation: Hereditary Cancer in Clinical Practice 2012 10(Suppl 2):A47

Content type: Meeting abstract Published on: 12 April 2012

This article is part of a Supplement: Volume 10 Supplement 2
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Is the whole greater than the sum of its parts?

Authors: L Andrews and J Duffy

Citation: Hereditary Cancer in Clinical Practice 2012 10(Suppl 2):A45

Content type: Meeting abstract Published on: 12 April 2012

This article is part of a Supplement: Volume 10 Supplement 2
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Clinical practice improvement in the genetics clinic

Authors: S Greening

Citation: Hereditary Cancer in Clinical Practice 2012 10(Suppl 2):A44

Content type: Meeting abstract Published on: 12 April 2012

This article is part of a Supplement: Volume 10 Supplement 2
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When is it best to test? Attitudes of health professionals regarding genetic testing for Familial Adenomatous Polyposis (FAP)

Authors: E Lynch, RE Duncan, F Macrae and M Delatycki

Citation: Hereditary Cancer in Clinical Practice 2012 10(Suppl 2):A43

Content type: Meeting abstract Published on: 12 April 2012

This article is part of a Supplement: Volume 10 Supplement 2
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An audit of families with unreported or misreported cancers verified through a population-based cancer registry: implications for providing cancer risk assessment and management advice by a Familial Cancer Centre

Authors: M Kentwell, M Bogwitz, L Donoghue and T McArdle

Citation: Hereditary Cancer in Clinical Practice 2012 10(Suppl 2):A42

Content type: Meeting abstract Published on: 12 April 2012

This article is part of a Supplement: Volume 10 Supplement 2
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Identification of breast cancer susceptibility genes using whole exome sequencing

Authors: E Thompson, M Doyle, J Ellul, J Li and I Campbell

Citation: Hereditary Cancer in Clinical Practice 2012 10(Suppl 2):A41

Content type: Meeting abstract Published on: 12 April 2012

This article is part of a Supplement: Volume 10 Supplement 2
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Whole genome sequencing in the study of disease and application in personalised medicine

Authors: A Kumarasuriyar

Citation: Hereditary Cancer in Clinical Practice 2012 10(Suppl 2):A39

Content type: Meeting abstract Published on: 12 April 2012

This article is part of a Supplement: Volume 10 Supplement 2
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Design considerations for massively parallel sequencing studies of common familial cancers

Authors: BJ Feng, SV Tavtigian, MC Southey and DE Goldgar

Citation: Hereditary Cancer in Clinical Practice 2012 10(Suppl 2):A38

Content type: Meeting abstract Published on: 12 April 2012

This article is part of a Supplement: Volume 10 Supplement 2
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Reclassifying ovarian cancer: origins, subtypes and resistance to therapy

Authors: DDL Bowtell

Citation: Hereditary Cancer in Clinical Practice 2012 10(Suppl 2):A35

Content type: Meeting abstract Published on: 12 April 2012

This article is part of a Supplement: Volume 10 Supplement 2
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Estimation of probabilities in favour of pathogenicity for missense substitutions for use in clinical evaluation of mismatch repair gene variants

Authors: B Thompson, D Goldgar, C Paterson, M Clendenning, R Walters, S Arnold, M Parsons, M Walsh, J Hopper, M Jenkins, M Greenblatt, D Buchanan, J Young, S Tavtigian and A Spurdle

Citation: Hereditary Cancer in Clinical Practice 2012 10(Suppl 2):A31

Content type: Meeting abstract Published on: 12 April 2012

This article is part of a Supplement: Volume 10 Supplement 2
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A breast cancer prediction model incorporating familial and personal risk factors

Authors: Jack Cuzick

Citation: Hereditary Cancer in Clinical Practice 2012 10(Suppl 2):A29

Content type: Meeting abstract Published on: 12 April 2012

This article is part of a Supplement: Volume 10 Supplement 2
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A multi-center study to evaluate the impact of germline BRCA1 and BRCA2 mutations on ovarian cancer survival

Authors: KL Bolton, G Chenevix-Trench, C Goh, S Sadetzki, SJ Ramus, SA Gayther, SJ Chanock, AC Antoniou and PDP Pharoah

Citation: Hereditary Cancer in Clinical Practice 2012 10(Suppl 2):A27

Content type: Meeting abstract Published on: 12 April 2012

This article is part of a Supplement: Volume 10 Supplement 2
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Targeting BCL-2–expressing basal-like breast cancer with BH3-mimetics

Authors: SR Oakes, F Vaillant, E Lim, L Lee, K Breslin, F Feleppa, S Deb, ME Ritchie, E Takano, T Ward, SB Fox, D Generali, GK Smyth, A Strasser, DCS Huang, JE Visvader…

Citation: Hereditary Cancer in Clinical Practice 2012 10(Suppl 2):A25

Content type: Meeting abstract Published on: 12 April 2012

This article is part of a Supplement: Volume 10 Supplement 2
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A study of cancer risks in relatives of patients with serrated polyposis

Authors: AK Win, RJ Walters, DD Buchanan, MA Jenkins, K Sweet, DM McKeone, MD Walsh, M Clendenning, SA Pearson, E Pavluk, B Nagler, JL Hopper, N Walker, C Rosty, S Parry and JP Young

Citation: Hereditary Cancer in Clinical Practice 2012 10(Suppl 2):A21

Content type: Meeting abstract Published on: 12 April 2012

This article is part of a Supplement: Volume 10 Supplement 2
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Hyperplastic polyposis syndrome: endoscopic imaging, phenotypic charcteristics and molecular pathways

Authors: KS Boparai, E Dekker and CJM van Noesel

Citation: Hereditary Cancer in Clinical Practice 2012 10(Suppl 2):A19

Content type: Meeting abstract Published on: 12 April 2012

This article is part of a Supplement: Volume 10 Supplement 2
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Looking for RED FLAGS: identifying and supporting patients at risk of adverse psychological responses to genetic counselling and testing

Authors: S Buscombe

Citation: Hereditary Cancer in Clinical Practice 2012 10(Suppl 2):A17

Content type: Meeting abstract Published on: 12 April 2012

This article is part of a Supplement: Volume 10 Supplement 2
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The experiences of research participants offered genetic test results as a result of taking part in a population based ovarian cancer research study?

Authors: MA Young, S Wake, K Alsop, D Bowtell, G Mitchell, L Plunkett, A Crook, M Gleeson and N Hallowell

Citation: Hereditary Cancer in Clinical Practice 2012 10(Suppl 2):A15

Content type: Meeting abstract Published on: 12 April 2012

This article is part of a Supplement: Volume 10 Supplement 2
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Risk-reducing surgery for breast and ovarian cancer risks - where are we now?

Authors: N Hallowell, B Baylock, L Heiniger, M Price and P Butow

Citation: Hereditary Cancer in Clinical Practice 2012 10(Suppl 2):A13

Content type: Meeting abstract Published on: 12 April 2012

This article is part of a Supplement: Volume 10 Supplement 2
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Bowel cancer chemoprevention - ready for the clinic?

Authors: J Burn

Citation: Hereditary Cancer in Clinical Practice 2012 10(Suppl 2):A12

Content type: Meeting abstract Published on: 12 April 2012

This article is part of a Supplement: Volume 10 Supplement 2
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Selecting women for breast cancer chemoprevention and what agents should be used

Authors: J Cuzick

Citation: Hereditary Cancer in Clinical Practice 2012 10(Suppl 2):A10

Content type: Meeting abstract Published on: 12 April 2012

This article is part of a Supplement: Volume 10 Supplement 2
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An update of clinical issues from InSIGHT 2011

Authors: L Lipton

Citation: Hereditary Cancer in Clinical Practice 2012 10(Suppl 2):A9

Content type: Meeting abstract Published on: 12 April 2012

This article is part of a Supplement: Volume 10 Supplement 2
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Dissecting genetic pathways in schwannomatosis and malignant rhabdoid tumour

Authors: E Algar

Citation: Hereditary Cancer in Clinical Practice 2012 10(Suppl 2):A8

Content type: Meeting abstract Published on: 12 April 2012

This article is part of a Supplement: Volume 10 Supplement 2
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Rehabilitating the sick role: post-surgical experiences of high risk women who undergo risk reducing mastectomy

Authors: N Hallowell, L Heiniger, B Baylock, M Price and P Butow

Citation: Hereditary Cancer in Clinical Practice 2012 10(Suppl 2):A6

Content type: Meeting abstract Published on: 12 April 2012

This article is part of a Supplement: Volume 10 Supplement 2
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I just did it for the kids: mothering in the context of living with an increased risk of ovarian cancer

Authors: A McEwen

Citation: Hereditary Cancer in Clinical Practice 2012 10(Suppl 2):A4

Content type: Meeting abstract Published on: 12 April 2012

This article is part of a Supplement: Volume 10 Supplement 2
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