kConFab Investigators

<i>PALB2</i>, <i>CHEK2</i> and <i>ATM</i> rare variants and cancer risk: data from COGS

Melissa C. Southey, Robert Winqvist, Katri Pylkäs et al. · Journal of Medical Genetics · 2016 · 215 citations · Full text

Ovarian and Breast Cancer Risks Associated With Pathogenic Variants in <i>RAD51C</i> and <i>RAD51D</i>

Xin Yang, Honglin Song, Goska Leslie et al. · JNCI Journal of the National Cancer Institute · 2020 · 159 citations · Full text

Combined genetic and splicing analysis of BRCA1 c.[594-2A&gt;C; 641A&gt;G] highlights the relevance of naturally occurring in-frame transcripts for developing disease gene variant classification algorithms

Miguel de la Hoya, Omar Soukarieh, Irene López‐Perolio et al. · Human Molecular Genetics · 2016 · 89 citations · Full text

Prognostic value of automated KI67 scoring in breast cancer: a centralised evaluation of 8088 patients from 10 study groups

Mustapha Abubakar, Nick Orr, Frances Daley et al. · Breast Cancer Research · 2016 · 76 citations · Full text

Identification of BRCA1 missense substitutions that confer partial functional activity: potential moderate risk variants?

Paul K. Lovelock, Amanda B. Spurdle, Myth T.S. Mok et al. · Breast Cancer Research · 2007 · 68 citations · Full text