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Hereditary Cancer in Clinical Practice publishes selected collections of research articles, conference proceedings, reviews and reports as supplements, which are free to access online. All articles published in supplements are subject to peer review; meeting abstracts undergo review and selection by the conference. Find out more about publishing a supplement with BioMed Central.

Volume 10 Supplement 2

Familial Aspects of Cancer 2011 Research and Practice

Meeting abstracts

Familial Aspects of Cancer 2011 Research and Practice: A combined meeting of kConFab, Australian Breast Cancer Family Study, Australian Colorectal Cancer Family Study, Australian Ovarian Cancer Study, Family Cancer Clinics of Australia and New Zealand and kConFab

Kingscliff, Australia

23-26 August 2011

Edited by Rodney Scott

Meeting abstract   Open Access

Clinical management of women in BRCAX families: issues and controversies

G Mitchell Hereditary Cancer in Clinical Practice 2012, 10(Suppl 2):A1 (12 April 2012)

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Meeting abstract   Open Access

Polyposis syndromes– what to do when genotyping seems not informative

F Macrae Hereditary Cancer in Clinical Practice 2012, 10(Suppl 2):A2 (12 April 2012)

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Meeting abstract   Open Access

Inherited and de novo germline TP53 mutations in adult-onset sarcoma

DM Thomas, ML Ballinger, International Sarcoma Kindred Study Consortium Hereditary Cancer in Clinical Practice 2012, 10(Suppl 2):A3 (12 April 2012)

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Meeting abstract   Open Access

I just did it for the kids: mothering in the context of living with an increased risk of ovarian cancer

A McEwen Hereditary Cancer in Clinical Practice 2012, 10(Suppl 2):A4 (12 April 2012)

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Meeting abstract   Open Access

Are women at high risk for serous gynaecological cancer (SGC) opting for risk-reducing salphingo-oophorectomy motivated by high levels of anxiety and risk perceptions?

B Meiser, MA Price, PN Butow, J Karatas, M Charles, KA Phillips, kConFab Psychosocial and Clinical Follow-Up groups, kConFab investigators Hereditary Cancer in Clinical Practice 2012, 10(Suppl 2):A5 (12 April 2012)

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Meeting abstract   Open Access

Rehabilitating the sick role: post-surgical experiences of high risk women who undergo risk reducing mastectomy

N Hallowell, L Heiniger, B Baylock, M Price, P Butow, kConFab Psychosocial Group, kConFab Investigators Hereditary Cancer in Clinical Practice 2012, 10(Suppl 2):A6 (12 April 2012)

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Meeting abstract   Open Access

Use of SDHB immunohistochemistry to identify germline mutations of SDH genes

AJ Gill Hereditary Cancer in Clinical Practice 2012, 10(Suppl 2):A7 (12 April 2012)

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Meeting abstract   Open Access

Dissecting genetic pathways in schwannomatosis and malignant rhabdoid tumour

E Algar Hereditary Cancer in Clinical Practice 2012, 10(Suppl 2):A8 (12 April 2012)

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Meeting abstract   Open Access

An update of clinical issues from InSIGHT 2011

L Lipton Hereditary Cancer in Clinical Practice 2012, 10(Suppl 2):A9 (12 April 2012)

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Meeting abstract   Open Access

Selecting women for breast cancer chemoprevention and what agents should be used

J Cuzick Hereditary Cancer in Clinical Practice 2012, 10(Suppl 2):A10 (12 April 2012)

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Meeting abstract   Open Access

Association of tamoxifen use and reduced risk of contralateral breast cancer for BRCA1 and BRCA2 mutation carriers

KA Phillips, RL Milne, MA Rookus, D Goldgar, M Friedlander, SA McLachlan, S Buys, AC Antoniou, K Birch, MB Terry, DF Easton, P Weideman, M Daly, N Andrieu, EM John, MJ Hooning, IL Andrulis, T Caldes, H Olsson, JL Hopper Hereditary Cancer in Clinical Practice 2012, 10(Suppl 2):A11 (12 April 2012)

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Meeting abstract   Open Access

Bowel cancer chemoprevention - ready for the clinic?

J Burn Hereditary Cancer in Clinical Practice 2012, 10(Suppl 2):A12 (12 April 2012)

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Meeting abstract   Open Access

Risk-reducing surgery for breast and ovarian cancer risks - where are we now?

N Hallowell, B Baylock, L Heiniger, M Price, P Butow Hereditary Cancer in Clinical Practice 2012, 10(Suppl 2):A13 (12 April 2012)

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Meeting abstract   Open Access

"It's not even about her it's about the whole family": accounts of participation in a family cancer study

H Shipman, A Clarke Hereditary Cancer in Clinical Practice 2012, 10(Suppl 2):A14 (12 April 2012)

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Meeting abstract   Open Access

The experiences of research participants offered genetic test results as a result of taking part in a population based ovarian cancer research study?

MA Young, S Wake, K Alsop, D Bowtell, G Mitchell, The Australian Ovarian Cancer Study Group, L Plunkett, A Crook, M Gleeson, N Hallowell Hereditary Cancer in Clinical Practice 2012, 10(Suppl 2):A15 (12 April 2012)

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Meeting abstract   Open Access

Peer live supervision in the familial cancer setting

M Kentwell, A Sexton, L Hodgkin, Y Bylstra, M Bogwitz, K Mann, J Taylor, M Sahhar, F Pearce, I Winship, GJ Lindeman Hereditary Cancer in Clinical Practice 2012, 10(Suppl 2):A16 (12 April 2012)

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Meeting abstract   Open Access

Looking for RED FLAGS: identifying and supporting patients at risk of adverse psychological responses to genetic counselling and testing

S Buscombe Hereditary Cancer in Clinical Practice 2012, 10(Suppl 2):A17 (12 April 2012)

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Meeting abstract   Open Access

A state-wide population-based program for detection of Lynch syndrome based upon immunohistochemical and molecular testing of colorectal tumours

L Schofield, F Grieu, J Goldblatt, B Amanuel, B Iacopetta Hereditary Cancer in Clinical Practice 2012, 10(Suppl 2):A18 (12 April 2012)

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Meeting abstract   Open Access

Hyperplastic polyposis syndrome: endoscopic imaging, phenotypic charcteristics and molecular pathways

KS Boparai, E Dekker, CJM van Noesel Hereditary Cancer in Clinical Practice 2012, 10(Suppl 2):A19 (12 April 2012)

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Meeting abstract   Open Access

Serrated polyposis syndrome and colonoscopic surveillance: who is it safe to follow?

S Parry, S Woodall, G Willdridge, MD Walsh, DD Buchanan, C Rosty, JP Young Hereditary Cancer in Clinical Practice 2012, 10(Suppl 2):A20 (12 April 2012)

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Meeting abstract   Open Access

A study of cancer risks in relatives of patients with serrated polyposis

AK Win, RJ Walters, DD Buchanan, MA Jenkins, K Sweet, DM McKeone, MD Walsh, M Clendenning, SA Pearson, E Pavluk, B Nagler, JL Hopper, Genetics of Serrated Neoplasia investigators, N Walker, C Rosty, S Parry, JP Young Hereditary Cancer in Clinical Practice 2012, 10(Suppl 2):A21 (12 April 2012)

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Meeting abstract   Open Access

Mismatch repair gene mutations and cancer risks: an update

AK Win, JL Hopper, MA Jenkins, Australasian Colorectal Cancer Family Study and the Colon Cancer Family Registry Hereditary Cancer in Clinical Practice 2012, 10(Suppl 2):A22 (12 April 2012)

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Meeting abstract   Open Access

The relationship between the BRAF p.V600E mutation and a family history of CRC in the early-onset CRC cases from the Australasian Colon Cancer Family Study

DD Buchanan, AK Win, R Walters, MD Walsh, M Clendenning, B Nagler, E Pavluk, SA Pearson, C Rosty, J Maskiell, JL Hopper, MA Jenkins, JP Young Hereditary Cancer in Clinical Practice 2012, 10(Suppl 2):A23 (12 April 2012)

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Meeting abstract   Open Access

Targeting oncogenes in advanced melanoma

GA McArthur Hereditary Cancer in Clinical Practice 2012, 10(Suppl 2):A24 (12 April 2012)

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Meeting abstract   Open Access

Targeting BCL-2–expressing basal-like breast cancer with BH3-mimetics

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, GJ Lindeman Hereditary Cancer in Clinical Practice 2012, 10(Suppl 2):A25 (12 April 2012)

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Meeting abstract   Open Access

Inherited and de novo germline TP53 mutations in adult-onset sarcoma

David M Thomas, Mandy L Ballinger, International Sarcoma Kindred Study Consortium Hereditary Cancer in Clinical Practice 2012, 10(Suppl 2):A26 (12 April 2012)

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Meeting abstract   Open Access

A multi-center study to evaluate the impact of germline BRCA1 and BRCA2 mutations on ovarian cancer survival

KL Bolton, G Chenevix-Trench, C Goh, S Sadetzki, SJ Ramus, SA Gayther, SJ Chanock, AC Antoniou, PDP Pharoah Hereditary Cancer in Clinical Practice 2012, 10(Suppl 2):A27 (12 April 2012)

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Meeting abstract   Open Access

Common genomic variants associated with breast cancer predict the risk of second primary breast cancer diagnosis

S Sawyer, J McKinley, G Mitchell, G Chenevix-Trench, M Harris, G Lindeman, PA James Hereditary Cancer in Clinical Practice 2012, 10(Suppl 2):A28 (12 April 2012)

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Meeting abstract   Open Access

A breast cancer prediction model incorporating familial and personal risk factors

Jack Cuzick Hereditary Cancer in Clinical Practice 2012, 10(Suppl 2):A29 (12 April 2012)

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Meeting abstract   Open Access

A genetic journey through cancer: from rarity and family to aspirin and nanowires

J Burn Hereditary Cancer in Clinical Practice 2012, 10(Suppl 2):A30 (12 April 2012)

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Meeting abstract   Open Access

Estimation of probabilities in favour of pathogenicity for missense substitutions for use in clinical evaluation of mismatch repair gene variants

B Thompson, D Goldgar, C Paterson, M Clendenning, R Walters, S Arnold, M Parsons, M Walsh, J Hopper, M Jenkins, M Greenblatt, Colon Cancer Family Registry, D Buchanan, J Young, S Tavtigian, A Spurdle Hereditary Cancer in Clinical Practice 2012, 10(Suppl 2):A31 (12 April 2012)

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Meeting abstract   Open Access

Chromosome 8q23.3, 10p14 and 11q23.1 variants modify colorectal cancer risk in Lynch syndrome – a combined analysis of the Australian, Dutch and Polish Lynch syndrome cohorts

Bente A Talseth-Palmer, Juul T Wijnen, Ingvild S Brenne, Shantie Jagmohan-Changur, Katie A Ashton, Carli M Tops, Tiffany-Jane Evans, Mary McPhillips, Claire Groombridge, Janina Suchy, Grzegorz Kurzawski, The Dutch Cancer Genetics Group, Allan Spigelman, Pål Møller, Hans M Morreau, Tom Van Wezel, Jan Lubinski, Hans FA Vasen, Rodney J Scott Hereditary Cancer in Clinical Practice 2012, 10(Suppl 2):A32 (12 April 2012)

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Meeting abstract   Open Access

Substantial unexplained variation in cancer risks for MLH1 and MSH2 mutation carriers

JG Dowty, AK Win, D Buchanan, RJ Macinnis, N Lindor, SN Thibodeau, G Casey, S Gallinger, L LeMarchand, P Newcomb, R Haile, J Goldblatt, S Parry, FA Macrae, JL Hopper, MA Jenkins, Colon Cancer Family Registry Hereditary Cancer in Clinical Practice 2012, 10(Suppl 2):A33 (12 April 2012)

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Meeting abstract   Open Access

OPCML, a novel systems regulator of tyrosine kinase signaling in ovarian and other cancers

H Gabra Hereditary Cancer in Clinical Practice 2012, 10(Suppl 2):A34 (12 April 2012)

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Meeting abstract   Open Access

Reclassifying ovarian cancer: origins, subtypes and resistance to therapy

DDL Bowtell Hereditary Cancer in Clinical Practice 2012, 10(Suppl 2):A35 (12 April 2012)

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Meeting abstract   Open Access

Identification of a genetic variant associated with treatment outcome in ovarian cancer: the potential role of cholesterol metabolism as a determinant of response to chemotherapy

Georgia Chenevix-Trench, Yi Lu, Sharon Johnatty, Eric Gamazon, Jonathan Beesley, Xiaoqing Chen, Bo Gao, Paul Harnett, R Stephanie Huang, Evelyn Despierre, Florian Heitz, Estrid Hogdall, Claus Hogdall, Robert Brown, Kirsten Moyisch, Peter Fasching, Ellen Goode, Amanda Russell, Michelle Henderson, Michelle Haber, Eileen Dolan, Stuart Macgregor, Anna deFazio, Ovarian Cancer Association Consortium (OCAC) Hereditary Cancer in Clinical Practice 2012, 10(Suppl 2):A36 (12 April 2012)

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Meeting abstract   Open Access

Expression of genes involved in DNA repair and cell cycle checkpoint pathways in Triple Negative compared to Luminal A Breast Cancer: a molecular characterization

Monica Ganzinelli, Enilze Ribeiro, Ramona Bertoni, Letizia Bazzola, Daniele Andreis, Alberto Bottini, Roberto Giardini, Camillo Rossi, Giovanna Damia, Daniele Generali Hereditary Cancer in Clinical Practice 2012, 10(Suppl 2):A37 (12 April 2012)

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Meeting abstract   Open Access

Design considerations for massively parallel sequencing studies of common familial cancers

BJ Feng, SV Tavtigian, MC Southey, DE Goldgar Hereditary Cancer in Clinical Practice 2012, 10(Suppl 2):A38 (12 April 2012)

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Meeting abstract   Open Access

Whole genome sequencing in the study of disease and application in personalised medicine

A Kumarasuriyar Hereditary Cancer in Clinical Practice 2012, 10(Suppl 2):A39 (12 April 2012)

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Meeting abstract   Open Access

Identification of new breast cancer predisposition genes via whole exome sequencing

MC Southey, DJ Park, F Lesueur, F Odefrey, T Nguyen-Dumont, F Hammet, SL Neuhausen, EM John, IL Andrulis, G Chenevix-Trench, L Baglietto, F Le Calvez-Kelm, M Pertesi, A Lonie, B Pope, O Sinilnikova, H Tsimiklis, MCCS, BCFR, kConFab, GG Giles, JL Hopper, SV Tavtigian, DE Goldgar Hereditary Cancer in Clinical Practice 2012, 10(Suppl 2):A40 (12 April 2012)

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Meeting abstract   Open Access

Identification of breast cancer susceptibility genes using whole exome sequencing

E Thompson, M Doyle, J Ellul, J Li, I Campbell Hereditary Cancer in Clinical Practice 2012, 10(Suppl 2):A41 (12 April 2012)

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Meeting abstract   Open Access

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

M Kentwell, M Bogwitz, L Donoghue, T McArdle Hereditary Cancer in Clinical Practice 2012, 10(Suppl 2):A42 (12 April 2012)

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Meeting abstract   Open Access

When is it best to test? Attitudes of health professionals regarding genetic testing for Familial Adenomatous Polyposis (FAP)

E Lynch, RE Duncan, F Macrae, M Delatycki Hereditary Cancer in Clinical Practice 2012, 10(Suppl 2):A43 (12 April 2012)

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Meeting abstract   Open Access

Clinical practice improvement in the genetics clinic

S Greening Hereditary Cancer in Clinical Practice 2012, 10(Suppl 2):A44 (12 April 2012)

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Meeting abstract   Open Access

Is the whole greater than the sum of its parts?

L Andrews, J Duffy Hereditary Cancer in Clinical Practice 2012, 10(Suppl 2):A45 (12 April 2012)

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Meeting abstract   Open Access

From GWAS to genome sequencing: complementary approaches to identify melanoma predisposition genes

S MacGregor, KM Brown, M Stark, M Gartside, S Woods, V Bonazzi, L Aoude, K Dutton-Regester, S Tyagi, J Liu, DL Duffy, J Palmer, A Cust, H Schmid, J Symmons, E Holland, C Agha-Hamilton, K Holohan, D Youngkin, E Gillanders, MA Jenkins, J Kelly, DC Whiteman, R Kefford, G Giles, B Armstrong, J Aitken, J Hopper, G Montgomery, C Schmidt, JM Trent, NG Martin, GJ Mann, NK Hayward et al. Hereditary Cancer in Clinical Practice 2012, 10(Suppl 2):A46 (12 April 2012)

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Meeting abstract   Open Access

A genome-wide association study to identify genetic markers associated with endometrial cancer grade

T O’Mara, D Duffy, DJ Thompson, S Ahmed, K Ferguson, CS Healey, ANECS, G Montgomery, M Shah, J Morrison, PP Pharoah, AM Dunning, PM Webb, DF Easton, AB Spurdle Hereditary Cancer in Clinical Practice 2012, 10(Suppl 2):A47 (12 April 2012)

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Meeting abstract   Open Access

‘Next-generation’ genome wide association studies

J Hopper, E Makalic, D Schmidt, M Bui, J Stone, M Kapuscinski, D Park, M Jenkins, M Southey Hereditary Cancer in Clinical Practice 2012, 10(Suppl 2):A48 (12 April 2012)

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Meeting abstract   Open Access

An audit of treatment focussed BRCA1/2 mutation testing at an integrated Familial Cancer Clinic

A Lewis, L Cicciarelli, D Pandey, CM Lovett, R Driessen, S Sawyer, MA Young, G Mitchell Hereditary Cancer in Clinical Practice 2012, 10(Suppl 2):A49 (12 April 2012)

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Meeting abstract   Open Access

Audit of adherence to GI screening recommendations for Lynch Syndrome Patients

Lucinda Hossack, Omid Zarghom, Gillian Mitchell, Mary Shanahan, Craig Lynch, Alexander Heriot, Alex Boussioutas Hereditary Cancer in Clinical Practice 2012, 10(Suppl 2):A50 (12 April 2012)

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Meeting abstract   Open Access

Observation of the cancer patient journey: a learning curve for Genetic Counsellors

JA Taylor, KJ Mann Hereditary Cancer in Clinical Practice 2012, 10(Suppl 2):A51 (12 April 2012)

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Meeting abstract   Open Access

Use of unit standard paragraphs and letters in: 1. Australian Familial Cancer Centres 2. One Centre’s experience at Southern Health

C Smyth, C Holding, C Hunt, S O’Connell, E Johnson, N Gelfand, M Harris Hereditary Cancer in Clinical Practice 2012, 10(Suppl 2):A52 (12 April 2012)

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Meeting abstract   Open Access

Making a good model better - evaluation of the NSW Combined Family Cancer Clinic meetings

Lynne Purser, Kathy Tucker, Kristine Barlow-Stewart, Kate Dunlop Hereditary Cancer in Clinical Practice 2012, 10(Suppl 2):A53 (12 April 2012)

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Meeting abstract   Open Access

What are the unmet support needs of women with a known BRCA1/2 mutation?

V White, A Farrelly, B Meiser, M Jefford, M Young, I Winship, S Ieropoli, J Koehler Hereditary Cancer in Clinical Practice 2012, 10(Suppl 2):A54 (12 April 2012)

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Meeting abstract   Open Access

East meets west: cross-cultural ethnic focussed genetic-counselling

Risha Zia, Lesley Andrews Hereditary Cancer in Clinical Practice 2012, 10(Suppl 2):A55 (12 April 2012)

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Meeting abstract   Open Access

Improving the provision of Melbourne Health Familial Cancer services to Victoria’s Culturally and Linguistically Diverse (CALD) communities

Y Bylstra, M Kentwell, GJ Lindeman, I Winship, L Hodgkin Hereditary Cancer in Clinical Practice 2012, 10(Suppl 2):A56 (12 April 2012)

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Meeting abstract   Open Access

Case study: positive outcomes from a negative

R Williams, K Tucker Hereditary Cancer in Clinical Practice 2012, 10(Suppl 2):A57 (12 April 2012)

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Meeting abstract   Open Access

Early experience in a breast and ovarian cancer risk management clinic in Malaysia

NA Taib, YL Woo, SY Yoon, R Kartini, MK Thong, CH Yip, SH Teo Hereditary Cancer in Clinical Practice 2012, 10(Suppl 2):A58 (12 April 2012)

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Meeting abstract   Open Access

RAD21 overexpression is frequently observed in BRCA-X Prostate Cancers

S Deb, X Huiling, H Thorne, A Willems-Jones, KconFab Investigators, D Clouston, D Bolton, R Ramsay, SB Fox Hereditary Cancer in Clinical Practice 2012, 10(Suppl 2):A59 (12 April 2012)

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Meeting abstract   Open Access

Genetic testing and immunohistochemistry for SDHB in phaeochromocytoma-paraganglioma syndromes: the South Australian experience

NK Poplawski, L Rawlings, J Seymour, C Vakulin, A Tirimacco, DE Benn, AJ Gill Hereditary Cancer in Clinical Practice 2012, 10(Suppl 2):A60 (12 April 2012)

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Meeting abstract   Open Access

Pathogenic germline TP53 mutations in adult sarcoma patients; implications for treatment and screening – description of an upcoming project

K Mahendran, M Ballinger, J Kirk, D Thomas, M Tattersall Hereditary Cancer in Clinical Practice 2012, 10(Suppl 2):A61 (12 April 2012)

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Meeting abstract   Open Access

Chemoprevention with the metabolism modifying drugs dichloroacetate and metformin in Trp53+/- mice

AC Blackburn, M Rooke, Y Li, JE Dahlstrom, PG Board Hereditary Cancer in Clinical Practice 2012, 10(Suppl 2):A62 (12 April 2012)

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Meeting abstract   Open Access

Referral of Queensland women with endometrial cancer to genetic services

YY Tan, J McGaughran, A Obermair, A Spurdle Hereditary Cancer in Clinical Practice 2012, 10(Suppl 2):A63 (12 April 2012)

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Meeting abstract   Open Access

Familial platelet disorders with a predisposition to acute myelogenous leukaemia: a RUNX1 update

J Rossini, B Mercorella, S Townshend, C Vakulin, L Rawlings, X Li, C Hahn, H Scott Hereditary Cancer in Clinical Practice 2012, 10(Suppl 2):A64 (12 April 2012)

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Meeting abstract   Open Access

When, how and why BRCA1 and BRCA2 genetic testing is offered to patients who do not meet standard criteria

J Duffy, S Greening, B Creighton Hereditary Cancer in Clinical Practice 2012, 10(Suppl 2):A65 (12 April 2012)

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Meeting abstract   Open Access

Validation study of risk prediction models for female relatives of Australian women with breast cancer

R MacInnis, G Dite, A Bickerstaffe, J Dowty, K Aujard, C Apicella, K Phillips, P Weideman, J Hopper Hereditary Cancer in Clinical Practice 2012, 10(Suppl 2):A66 (12 April 2012)

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Meeting abstract   Open Access

‘PREMM 1,2,6 MODEL’ as a new gene specific prediction model for Lynch Syndrome: retrospective review of mutation positive cases

J Gale Hereditary Cancer in Clinical Practice 2012, 10(Suppl 2):A67 (12 April 2012)

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Meeting abstract   Open Access

Searching for BRCA3 by exome sequencing

I Makunin, M Stark, M Gartside, kConFab, G Chenevix-Trench Hereditary Cancer in Clinical Practice 2012, 10(Suppl 2):A68 (12 April 2012)

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Meeting abstract   Open Access

Bowel cancer in a 17 year old: what could be the reason?

M Bowman, E Edwards, A Goodwin, J Kirk Hereditary Cancer in Clinical Practice 2012, 10(Suppl 2):A69 (12 April 2012)

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Meeting abstract   Open Access

Role of oncology/genetics nurse in management of individuals with hereditary diffuse gastric cancer

M Shanahan, MA Young, G Mitchell Hereditary Cancer in Clinical Practice 2012, 10(Suppl 2):A70 (12 April 2012)

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Meeting abstract   Open Access

The challenges of finding the gene responsible for a rare, autosomal dominant gastric cancer susceptibility syndrome

JJ Li, S Healey, K Phillips, I Makunin, N Wayte, I Schrader, D Worthley, N Lindor, D Huntsman, D Goldgar, G Suthers, G Chenevix-Trench Hereditary Cancer in Clinical Practice 2012, 10(Suppl 2):A71 (12 April 2012)

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Meeting abstract   Open Access

The InSiGHT approach to classification of mismatch repair gene variants

JP Plazzer Hereditary Cancer in Clinical Practice 2012, 10(Suppl 2):A72 (12 April 2012)

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Meeting abstract   Open Access

An incidental finding of a large genomic deletion of BRCA1 on a molecular karyotype for a 5 year old child

A Lewis, P James Hereditary Cancer in Clinical Practice 2012, 10(Suppl 2):A73 (12 April 2012)

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Meeting abstract   Open Access

Metachronous colon cancer risk following surgery for first primary rectal cancer in Lynch syndrome

S Parry, AK Win, B Parry, M Kalady, FA Macrae, NM Lindor, RW Haile, PA Newcomb, L Le Marchand, S Gallinger, JL Hopper, MA Jenkins, Colon Cancer Family Registry Hereditary Cancer in Clinical Practice 2012, 10(Suppl 2):A74 (12 April 2012)

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Meeting abstract   Open Access

Colorectal tumour BRAF V600E and MLH1 promoter methylation status in the assessment of mismatch repair gene sequence variants of unknown clinical significance

M Parsons, B Thompson, D Goldgar, J Hopper, M Jenkins, Colon Cancer Family Registry, D Buchanan, J Young, A Spurdle Hereditary Cancer in Clinical Practice 2012, 10(Suppl 2):A75 (12 April 2012)

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Meeting abstract   Open Access

Loss of MSH6 and PMS2 immunohistochemical staining in tumour tissue of two individuals with a germline PMS2 mutation

E Edwards, M Bowman, M Walsh, J Kirk Hereditary Cancer in Clinical Practice 2012, 10(Suppl 2):A76 (12 April 2012)

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Meeting abstract   Open Access

State-wide population screening for Lynch syndrome? Improved ascertainment of at risk families

J Goldblatt, B Iacopetta, B Amanuel, L Schofield Hereditary Cancer in Clinical Practice 2012, 10(Suppl 2):A77 (12 April 2012)

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Meeting abstract   Open Access

Audit of routine immunohistochemistry testing for mismatch repair proteins at diagnosis of colorectal cancer under the age of 50

L Lipton, M Kentwell, M Li, D Williams, M Christie, A Landgren, C Dow, I Jones, S McLaughlin, M Delatycki, F Macrae, E Lynch Hereditary Cancer in Clinical Practice 2012, 10(Suppl 2):A78 (12 April 2012)

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Meeting abstract   Open Access

Bone density loss after risk reducing salpingo-oophorectomy

L Andrews, B Zielony, C White Hereditary Cancer in Clinical Practice 2012, 10(Suppl 2):A79 (12 April 2012)

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Meeting abstract   Open Access

Primary treatment patterns in women recruited to the Australian Ovarian Cancer Study

J Hung, S Fereday, P Harnett, D Giles, B Gao, N Traficante, AOCS Study Group, G Chenevix-Trench, A Green, P Webb, D Bowtell, A DeFazio Hereditary Cancer in Clinical Practice 2012, 10(Suppl 2):A80 (12 April 2012)

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Meeting abstract   Open Access

Integrated genomic analysis and functional characterisation of novel oncogenes in ovarian cancer

SJ Davis, KJ Simpson, IG Campbell, KL Gorringe Hereditary Cancer in Clinical Practice 2012, 10(Suppl 2):A81 (12 April 2012)

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Meeting abstract   Open Access

Pathological diagnosis of ovarian cancer

Hilda High, Michael Friedlander Hereditary Cancer in Clinical Practice 2012, 10(Suppl 2):A82 (12 April 2012)

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Meeting abstract   Open Access

Benign serous ovarian tumour: a redefining moment?

Sally Hunter, Kylie Gorringe, Michael Anglesio, AOCS, Raghwa Sharma, Blake Gilks, Anna deFazio, David Huntsman, Ian Campbell Hereditary Cancer in Clinical Practice 2012, 10(Suppl 2):A83 (12 April 2012)

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Meeting abstract   Open Access

Analysis of RAD51C germline mutations in high-risk breast and ovarian cancer families and ovarian cancer patients

ER Thompson, SE Boyle, J Johnson, GL Ryland, S Sawyer, DY Choong, kConFab, G Chenevix-Trench, AH Trainer, GJ Lindeman, G Mitchell, PA James, IG Campbell Hereditary Cancer in Clinical Practice 2012, 10(Suppl 2):A84 (12 April 2012)

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Meeting abstract   Open Access

The use of the Illumina FFPE Restoration Protocol to obtain suitable quality DNA for SNP-based CGH– a pilot study

AN Hosein, S Cocciardi, J Jayanthan, S Song, P Simpson, G Chenevix-Trench Hereditary Cancer in Clinical Practice 2012, 10(Suppl 2):A85 (12 April 2012)

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Meeting abstract   Open Access

Functional polymorphisms in the TERT promoter are associated with risk of serious ovarian and breast cancer

Jonathan Beesley, Hilda Pickett, Sharon Johnatty, Xiaoqing Chen, Jun Li, David Rider, Michael Stutz, Diether Lambrecht, Jenny Chang-Claude, Thilo Dork, Marc Goodman, Bart Kiemmney, Elisa Bandera, Linda Kelemen, Shan Wang-Gorke, Ian Campbell, Simon Gayther, Susan Ramus, Ellen Goode, Roger Reddel, Georgia Chenevix-Trench, kConFab Investigators, Australian Ovarian Cancer Study Group Hereditary Cancer in Clinical Practice 2012, 10(Suppl 2):A86 (12 April 2012)

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Meeting abstract   Open Access

A multi-centre international quality control study comparing mRNA splicing assay protocols and reporting practices from the ENIGMA consortium

P Whiley, LC Walker, kConFab, M De LA Hoya, B Wappenschmidt, A Becker, A Blanco, MJ Blok, MA Caligo, C Chatfield, F Couch, O Diez, L Fachal, L Guidugli, S Enríquez, T Hansen, C Houdayer, S Imrie, A Lafferty, C Lázaro, M Menéndez, M Montagna, G Montalbán, M Santamariña, I Pederson, M Southey, M Tancredi, A Tenès, M Thomassen, A Van Overeem Vega, AB Spurdle, MA Brown et al. Hereditary Cancer in Clinical Practice 2012, 10(Suppl 2):A87 (12 April 2012)

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Meeting abstract   Open Access

Identification of a novel disease-associated variant in the BRCA1 3’UTR that introduces a functional miR-103 target site

BL Brewster, F Rossiello, JD French, SL Edwards, EM Wong, P Whiley, N Waddell, BreastCFR, kConFab, X Chen, B Bove, AB Spurdle, P Radice, AK Godwin, MC Southey, MA Brown, P Peterlongo Hereditary Cancer in Clinical Practice 2012, 10(Suppl 2):A88 (12 April 2012)

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Meeting abstract   Open Access

The contribution of LARGE genomic rearrangements of BRCA1 and BRCA2 gene mutations in breast and ovarian cancer families in a clinical cohort

S Sawyer, S Boyle, MA Young, S Kovalenko, R Doherty, J McKinley, K Alsop, M Rehfisch, S Macaskill, A Ha, V Beshay, G Lindeman, M Harris, S Fox, G Mitchell, P James Hereditary Cancer in Clinical Practice 2012, 10(Suppl 2):A89 (12 April 2012)

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Meeting abstract   Open Access

Contribution of genetic variation within SuprMam1 and SuprMam2 to breast cancer susceptibility

M Ratnadiwakara, M Rooke, R Williams, AC Blackburn Hereditary Cancer in Clinical Practice 2012, 10(Suppl 2):A90 (12 April 2012)

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Meeting abstract   Open Access

Early exploration of two candidate breast cancer susceptibility genes identified by whole-exome sequencing

R Blanc, A Jammot, T Nguyen-Dumont, ZL Teo, FA Odefrey, F Hammet, VLSCI, BCFR, MCCS, DE Goldgar, DJ Park, MC Southey Hereditary Cancer in Clinical Practice 2012, 10(Suppl 2):A91 (12 April 2012)

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Meeting abstract   Open Access

Expanded genetic analysis of a PALB2 c.3113G>A mutation carrying multiple-case breast cancer family via exome sequencing

ZL Teo, DJ Park, F Odefrey, F Hammet, T Nguyen-Dumont, H Tsimiklis, BJ Pope, A Lonie, I Winship, GG Giles, ABCFS, JL Hopper, MC Southey Hereditary Cancer in Clinical Practice 2012, 10(Suppl 2):A92 (12 April 2012)

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Meeting abstract   Open Access

Identification of copy number alterations associated with the progression of DCIS to invasive ductal carcinoma

C Johnson, KL Gorringe, ER Thompson, K Opeskin, SE Boyle, Y Wang, P Hill, GB Mann, IG Campbell Hereditary Cancer in Clinical Practice 2012, 10(Suppl 2):A93 (12 April 2012)

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Meeting abstract   Open Access

The Australian Ovarian Cancer Study

N Traficante, S Fereday, L Galletta, J Hung, D Giles, K Alsop, J Hendley, A Iuga, AOCS Study Group, G Chenevix-Trench, A Green, P Webb, A DeFazio, D Bowtell Hereditary Cancer in Clinical Practice 2012, 10(Suppl 2):A94 (12 April 2012)

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Meeting abstract   Open Access

The kConFab experience – 14 years of biobanking

H Thorne, E Niedermayr, L Williams, A Willems-Jones, L Djandjgava, K Ioculano, C Osinski, kConFab research nurses, Kathleen Cuningham Consortium for Research into Familial Breast Cancer (kConFab) Hereditary Cancer in Clinical Practice 2012, 10(Suppl 2):A95 (12 April 2012)

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