Evidence-Based Massively Parallel Translation: Application to Breast Cancer Susceptibility.

Views of genetic health professionals, patients, and next of kin on retesting and recontact with results from updated genetic testing

AL Young, C Speechly, A Morrow, K Ross, C Murphy, N Poplawski, L Andrews, R Harris, J Kirk, K Tucker, C Jacobs, T Nguyen-Dumont, MC Southey, AM Willis

2025-12-01

Retesting individuals who previously had uninformative BRCA1/2 genetic testing can identify new clinically actionable information...

RE: Heterozygous BRCA1 and BRCA2 and mismatch repair gene pathogenic variants in children and adolescents with cancer

S Li, T Nguyen-Dumont, MC Southey, JL Hopper

2023-06-01

First international workshop of the ATM and cancer risk group (4-5 December 2019)

F Lesueur, DF Easton, AL Renault, SV Tavtigian, JL Bernstein, Z Kote-Jarai, RA Eeles, D Plaseska-Karanfia, L Feliubadaló, A Moles-Fernández, M Santamariña-Pena, AT Sánchez, A López-Novo, LM Porras, A Blanco, G Capellá, M de la Hoya, IJ Molina, A Osorio, M Pineda

2022-04-01

The first International Workshop of the ATM and Cancer Risk group focusing on the role of Ataxia-Telangiectasia Mutated (ATM) gene..

Evaluation of the association of heterozygous germline variants in NTHL1 with breast cancer predisposition: an international multi-center study of 47,180 subjects

N Li, M Zethoven, S McInerny, L Devereux, YK Huang, N Thio, D Cheasley, S Gutiérrez-Enríquez, A Moles-Fernández, O Diez, T Nguyen-Dumont, MC Southey, JL Hopper, J Simard, M Dumont, P Soucy, A Meindl, R Schmutzler, MK Schmidt, MA Adank

2021-12-01

Bi-allelic loss-of-function (LoF) variants in the base excision repair (BER) gene NTHL1 cause a high-risk hereditary multi-tumor s..

Population-based estimates of breast cancer risk for carriers of pathogenic variants identified by gene-panel testing

MC Southey, JG Dowty, M Riaz, JA Steen, AL Renault, K Tucker, J Kirk, P James, I Winship, N Pachter, N Poplawski, S Grist, DJ Park, BJ Pope, K Mahmood, F Hammet, M Mahmoodi, H Tsimiklis, D Theys, A Rewse

2021-12-01

Population-based estimates of breast cancer risk for carriers of pathogenic variants identified by gene-panel testing are urgently..

Population-based estimates of the age-specific cumulative risk of breast cancer for pathogenic variants in CHEK2: Findings from the australian breast cancer family registry

T Nguyen-dumont, JG Dowty, JA Steen, AL Renault, F Hammet, M Mahmoodi, D Theys, A Rewse, H Tsimiklis, IM Winship, GG Giles, RL Milne, JL Hopper, MC Southey

2021-03-02

Case-control studies of breast cancer have consistently shown that pathogenic variants in CHEK2 are associated with about a 3-fold..

Mismatch repair gene pathogenic germline variants in a population-based cohort of breast cancer

T Nguyen-Dumont, JA Steen, I Winship, DJ Park, BJ Pope, F Hammet, M Mahmoodi, H Tsimiklis, D Theys, M Clendenning, GG Giles, JL Hopper, MC Southey

2020-07-01

The advent of gene panel testing is challenging the previous practice of using clinically defined cancer family syndromes to infor..

Cancer risks associated with germline PALB2 pathogenic variants: An international study of 524 families

X Yang, G Leslie, A Doroszuk, S Schneider, J Allen, B Decker, AM Dunning, J Redman, J Scarth, I Plaskocinska, C Luccarini, M Shah, K Pooley, L Dorling, A Leei, MA Adank, J Adlard, K Aittomäki, IL Andrulis, P Ang

2020-03-01

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