Translation of information about the gene PALB2 into breast cancer clinical genetic services

Grant number: 1029974 | Funding period: 2012 - 2014

Completed

Abstract

Today in Australia women attending clinical genetics services and receiving genetic counselling due to a personal and/or family history of breast cancer are not considered for testing of PALB2 despite mounting evidence that the risk of breast cancer in mutation carriers is at least as high as the risk for BRCA2 mutation carriers. This project will provide the evidence base to support the incorporation of PALB2 gene testing into routine clinical genetics services both in Australia and around the world.

Related publications (11)

Scholarly works icon

Cancer Risks Associated With Germline PALB2 Pathogenic Variants: An International Study of 524 Families

Xin Yang, Goska Leslie, Alicja Doroszuk, Sandra Schneider, Jamie Allen, Brennan Decker, Alison M Dunning, James Redman, James Scarth, Inga Plaskocinska, Craig Luccarini, Mitul Shah, Karen Pooley, Leila Dorling, Andrew Lee, Muriel A Adank, Julian Adlard, Kristiina Aittomaki, Irene L Andrulis, Peter Ang

2020-03-01

PURPOSE: To estimate age-specific relative and absolute cancer risks of breast cancer and to estimate risks of ovarian, pancreatic..

Scholarly works icon

Targeted massively parallel sequencing characterises the mutation spectrum of PALB2 in breast and ovarian cancer cases from Poland and Ukraine

Aleksander Myszka, Nguyen-Dumont Tu, Pawel Karpinski, Maria M Sasiadek, Hayane Akopyan, Fleur Hammet, Helen Tsimiklis, Daniel J Park, Bernard J Pope, Ryszard Slezak, Nataliya Kitsera, Aleksandra Siekierzynska, Melissa C Southey

2018-07-01

Scholarly works icon

UNDR ROVER - a fast and accurate variant caller for targeted DNA sequencing

Daniel J Park, Roger Li, Edmund Lau, Peter Georgeson, Nguyen-Dumont Tu, Bernard J Pope

2016-04-16

Scholarly works icon

Breast-Cancer Risk in Families with Mutations in PALB2

AC Antoniou, S Casadei, T Heikkinen, D Barrowdale, K Pylkaes, J Roberts, A Lee, D Subramanian, K De Leeneer, F Fostira, E Tomiak, SL Neuhausen, ZL Teo, S Khan, K Aittomaeki, JS Moilanen, C Turnbull, S Seal, A Mannermaa, A Kallioniemi

2014-08-07

Scholarly works icon

Cross-platform compatibility of Hi-Plex, a streamlined approach for targeted massively parallel sequencing

Nguyen-Dumont Tu, Bernard J Pope, Fleur Hammet, Maryam Mahmoodi, Helen Tsimiklis, Melissa C Southey, Daniel J Park

2013-11-15

Scholarly works icon

Hi-Plex for high-throughput mutation screening: application to the breast cancer susceptibility gene PALB2

Nguyen-Dumont Tu, Zhi L Teo, Bernard J Pope, Fleur Hammet, Maryam Mahmoodi, Helen Tsimiklis, Nelly Sabbaghian, Marc Tischkowitz, William D Foulkes, Graham G Giles, John L Hopper, Melissa C Southey, Daniel J Park

2013-11-08

Scholarly works icon

A high-plex PCR approach for massively parallel sequencing

Nguyen-Dumont Tu, Bernard J Pope, Fleur Hammet, Melissa C Southey, Daniel J Park

2013-08-01

Scholarly works icon

Tumour morphology predicts PALB2 germline mutation status

ZL Teo, E Provenzano, GS Dite, DJ Park, C Apicella, SD Sawyer, PA James, G Mitchell, AH Trainer, GJ Lindeman, K Shackleton, L Cicciarelli, SS Buys, IL Andrulis, AM Mulligan, G Glendon, EM John, MB Terry, M Daly, FA Odefrey

2013-07-09

Scholarly works icon

Prevalence of PALB2 mutations in Australasian multiple-case breast cancer families

Zhi L Teo, Daniel J Park, Elena Provenzano, Catherine A Chatfield, Fabrice A Odefrey, Nguyen-Dumont Tu, James G Dowty, John L Hopper, Ingrid Winship, David E Goldgar, Melissa C Southey

2013-01-01

Scholarly works icon

Prevalence of PALB2 mutations in Australasian multiple-case breast cancer families

ZL Teo, DJ Park, E Provenzano, null Chatfield, FA Odefrey, null Nguyen-Dumont, null KConFab, JG Dowty, JL Hopper, IM Winship, E Goldgar, MC Southey

2013-01-01

Scholarly works icon

Prevalence of PALB2 mutations in Australasian multiple-case breast cancer families

Z Teo, DJ Park, E Provenzano, CA Chatfield, FA Odefrey, T Nguyen-Dumont, JG Dowty, J HOPPER, I Winship, D Goldgar, MC Southey

2013-01-01