Common genomic variants and familial breast cancer

Gene-Expression Profiling of Mucinous Ovarian Tumors and Comparison with Upper and Lower Gastrointestinal Tumors Identifies Markers Associated with Adverse Outcomes

Nicola S Meagher, Kylie L Gorringe, Matthew Wakefield, Adelyn Bolithon, Chi Nam Ignatius Pang, Derek S Chiu, Michael S Anglesio, Kylie-Ann Mallitt, Jennifer A Doherty, Holly R Harris, Joellen M Schildkraut, Andrew Berchuck, Kara L Cushing-Haugen, Ksenia Chezar, Angela Chou, Adeline Tan, Jennifer Alsop, Ellen Barlow, Matthias W Beckmann, Jessica Boros

2022-12-15

PURPOSE: Advanced-stage mucinous ovarian carcinoma (MOC) has poor chemotherapy response and prognosis and lacks biomarkers to aid ..

Somatic inactivation of breast cancer predisposition genes in tumors associated with pathogenic germline variants

Belle WX Lim, Na Li, Sakshi Mahale, Simone M McInerny, Magnus Zethoven, Simone M Rowley, Joanne Huynh, Theresa Wang, Jue Er Amanda Lee, Mia Friedman, Lisa Devereux, Rodney J Scott, Erica K Sloan, Paul A James, Ian G Campbell

2022-10-31

BACKGROUND: Breast cancers (BCs) that arise in individuals heterozygous for a germline pathogenic variant in a susceptibility gene..

Contribution of large genomic rearrangements in PALB2 to familial breast cancer: implications for genetic testing

Na Li, Magnus Zethoven, Simone McInerny, Eliza Healey, Dilanka DeSilva, Lisa Devereux, Rodney J Scott, Paul A James, Ian G Campbell

2022-04-07

BACKGROUND: PALB2 is the most important contributor to familial breast cancer after BRCA1 and BRCA2. Large genomic rearrangements ..

Estimating the proportion of pathogenic variants from breast cancer case-control data: Application to calibration of ACMG/AMP variant classification criteria

Paul A James, Cristina Fortuno, Na Li, Belle WX Lim, Ian G Campbell, Amanda B Spurdle

2022-03-03

For genes with reliable estimates of disease risk associated with loss-of-function variants, case-control data can be used to esti..

Integration of tumour sequencing and case-control data to assess pathogenicity of RAD51C missense variants in familial breast cancer

Belle WX Lim, Na Li, Simone M Rowley, Ella R Thompson, Simone McInerny, Magnus Zethoven, Rodney J Scott, Lisa Devereux, Erica K Sloan, Paul A James, Ian G Campbell

2022-01-17

While protein-truncating variants in RAD51C have been shown to predispose to triple-negative (TN) breast cancer (BC) and ovarian c..

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

2021-06-11

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

2021-05-12

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

2019-04-01

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

2018-10-01

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

2018-06-01

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

2018-01-09

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

2017-07-18

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

2013-07-09

BACKGROUND: Population-based studies of breast cancer have estimated that at least some PALB2 mutations are associated with high b..