Translation of information about the gene PALB2 into breast cancer clinical genetic services
Grant number: 1029974 | Funding period: 2012 - 2014
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 (17)
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
PURPOSE: To estimate age-specific relative and absolute cancer risks of breast cancer and to estimate risks of ovarian, pancreatic..
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
Loss-of-function germline mutations in the PALB2 gene are associated with an increase of breast cancer risk. The purpose of this s..
FANCM and RECQL genetic variants and breast cancer susceptibility: relevance to South Poland and West Ukraine
Nguyen-Dumont Tu, Aleksander Myszka, 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
BACKGROUND: FANCM and RECQL have recently been reported as breast cancer susceptibility genes and it has been suggested that they ..
PALB2, CHEK2 and ATM rare variants and cancer risk: data from COGS
Melissa C Southey, David E Goldgar, Robert Winqvist, Katri Pylkas, Fergus Couch, Marc Tischkowitz, William D Foulkes, Joe Dennis, Kyriaki Michailidou, Elizabeth J van Rensburg, Tuomas Heikkinen, Heli Nevanlinna, John L Hopper, Thilo Doerk, Kathleen BM Claes, Jorge Reis-Filho, Zhi Ling Teo, Paolo Radice, Irene Catucci, Paolo Peterlongo
BACKGROUND: The rarity of mutations in PALB2, CHEK2 and ATM make it difficult to estimate precisely associated cancer risks. Popul..
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
BACKGROUND: Previously, we described ROVER, a DNA variant caller which identifies genetic variants from PCR-targeted massively par..
AmpliVar: Mutation Detection in High-Throughput Sequence from Amplicon-Based Libraries
Arthur L Hsu, Olga Kondrashova, Sebastian Lunke, Clare J Love, Cliff Meldrum, Renate Marquis-Nicholson, Greg Corboy, Pham Kym, Matthew Wakefield, Paul M Waring, Graham R Taylor
Conventional means of identifying variants in high-throughput sequencing align each read against a reference sequence, and then ca..
Hi-Plex targeted sequencing is effective using DNA derived from archival dried blood spots
T Nguyen-Dumont, M Mahmoodi, F Hammet, T Tran, H Tsimiklis, GG Giles, JL Hopper, MC Southey, DJ Park
Many genetic epidemiology resources have collected dried blood spots (predominantly as Guthrie Cards) as an economical and efficie..
Abridged adapter primers increase the target scope of Hi-Plex
Nguyen-Dumont Tu, Fleur Hammet, Maryam Mahmoodi, Bernard J Pope, Graham G Giles, Graham G Hopper, Melissa C Southey, Daniel J Park
Previously, we reported Hi-Plex, an amplicon-based method for targeted massively parallel sequencing capable of generating 60 ampl..
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
BACKGROUND: Germline loss-of-function mutations in PALB2 are known to confer a predisposition to breast cancer. However, the lifet..
ROVER variant caller: read-pair overlap considerate variant-calling software applied to PCR-based massively parallel sequencing datasets.
Bernard J Pope, Tú Nguyen-Dumont, Fleur Hammet, Daniel J Park
BACKGROUND: We recently described Hi-Plex, a highly multiplexed PCR-based target-enrichment system for massively parallel sequenci..
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
Although per-base sequencing costs have decreased during recent years, library preparation for targeted massively parallel sequenc..
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
BACKGROUND: Massively parallel sequencing (MPS) has revolutionised biomedical research and offers enormous capacity for clinical a..
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
BACKGROUND: Population-based studies of breast cancer have estimated that at least some PALB2 mutations are associated with high b..
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
INTRODUCTION: Population-based studies of breast cancer have estimated that some PALB2 mutations confer a breast cancer risk (pene..