Common genomic variants and familial breast cancer
Grant number: 1023698 | Funding period: 2012 - 2015
Breast Cancer is a common disease with up to 20% of cases associated with a family history. This project aims to assess the contribution of recently identified risk associated genomic variants and rare predisposition genes to the heritability of familial breast cancer. The project will also assess the experience of clinicians and patients as we aim to use this information to help improve the process of risk assessment and genetic counselling in the specialist Familial Cancer Centres.
Related publications (8)
Investigation of monogenic causes of familial breast cancer: data from the BEACCON case-control study
Na Li, Belle WX Lim, Ella R Thompson, Simone McInerny, Magnus Zethoven, Dane Cheasley, Simone M Rowley, Michelle W Wong-Brown, Lisa Devereux, Kylie L Gorringe, Erica K Sloan, Alison Trainer, Rodney J Scott, Paul A James, Ian G Campbell
Breast cancer (BC) has a significant heritable component but the genetic contribution remains unresolved in the majority of high-r..
Evaluation of the association of heterozygous germline variants in NTHL1 with breast cancer predisposition: an international multi-center study of 47,180 subjects
Na Li, Magnus Zethoven, Simone McInerny, Lisa Devereux, Yu-Kuan Huang, Niko Thio, Dane Cheasley, Sara Gutierrez-Enriquez, Alejandro Moles-Fernandez, Orland Diez, Tu Nguyen-Dumont, Melissa C Southey, John L Hopper, Jacques Simard, Martine Dumont, Penny Soucy, Alfons Meindl, Rita Schmutzler, Marjanka K Schmidt, Muriel A Adank
Bi-allelic loss-of-function (LoF) variants in the base excision repair (BER) gene NTHL1 cause a high-risk hereditary multi-tumor s..
Development and pilot testing of a leaflet informing women with breast cancer about genomic testing for polygenic risk
Rajneesh Kaur, Bettina Meiser, Tatiane Yanes, Mary-Anne Young, Kristine Barlow-Stewart, Tony Roscioli, Sian Smith, Paul A James
The inclusion of polygenic risk scores in breast cancer risk prediction models provides a more personalised and accurate predictio..
Mutations in RECQL are not associated with breast cancer risk in an Australian population
Na Li, Simone M Rowley, David L Goode, Kaushalya C Amarasinghe, Simone McInerny, Lisa Devereux, Michelle W Wong-Brown, Richard Lupat, Jue Er Amanda Lee, Siobhan Hughes, Ella R Thompson, Magnus Zethoven, Jason Li, Alison H Trainer, Kylie L Gorringe, Rodney J Scott, Paul A James, Ian G Campbell
Making Sense of SNPs: Women's Understanding and Experiences of Receiving a Personalized Profile of Their Breast Cancer Risks
Mary-Anne Young, Laura Elenor Forrest, Victoria-Mae Rasmussen, Paul James, Gillian Mitchell, Sarah Dilys Sawyer, Katrina Reeve, Nina Hallowell
Genome wide association studies have identified a number of common genetic variants - single nucleotide polymorphisms (SNPs) - tha..
Evaluating the breast cancer predisposition role of rare variants in genes associated with low-penetrance breast cancer risk SNPs
Na Li, Simone M Rowley, Ella R Thompson, Simone McInerny, Lisa Devereux, Kaushalya C Amarasinghe, Magnus Zethoven, Richard Lupat, David Goode, Jason Li, Alison H Trainer, Kylie L Gorringe, Paul A James, Ian G Campbell
BACKGROUND: Genome-wide association studies (GWASs) have identified numerous single-nucleotide polymorphisms (SNPs) associated wit..
Psychosocial and behavioral impact of breast cancer risk assessed by testing for common risk variants: protocol of a prospective study
Tatiane Yanes, Bettina Meiser, Mary-Anne Young, Rajneesh Kaur, Gillian Mitchell, Kristine Barlow-Stewart, Tony Roscioli, Jane Halliday, Paul James
BACKGROUND: The 'common variant, common disease' model predicts that a significant component of hereditary breast cancer unexplain..
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..