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Breast (Edinburgh, Scotland)|March 30, 2024
A deep intronic recurrent CHEK2 variant c.1009-118_1009-87delinsC affects pre-mRNA splicing and contributes to hereditary breast cancer predispositionPetra Zemankova, Marta Cerna, Klara Horackova, et al.
Journal of the National Cancer Institute|November 25, 2024
Childhood, adolescent, and young adulthood cancer risk in BRCA1 or BRCA2 pathogenic variant carriersShuai Li, Laura Madanat-Harjuoja, Goska Leslie, et al.
Human Molecular Genetics|March 25, 2016
Combined genetic and splicing analysis of BRCA1 c.[594-2A>C; 641A>G] highlights the relevance of naturally occurring in-frame transcripts for developing disease gene variant classification algorithmsMiguel de la Hoya, Omar Soukarieh, Irene López-Perolio, et al.
Journal of Medical Genetics|May 14, 2026
Updated ENIGMA recommendations for reporting germline variants in cancer susceptibility genes and their translation into twenty languagesArcangela De Nicolo, Diana M Eccles, Kirsimari Aaltonen, et al.
Human Molecular Genetics|July 2, 2015
FANCM c.5791C>T nonsense mutation (rs144567652) induces exon skipping, affects DNA repair activity and is a familial breast cancer risk factorPaolo Peterlongo, Irene Catucci, Mara Colombo, et al.
Clinical Cancer Research : an Official Journal of the American Association for Cancer Research|July 14, 2023
ENIGMA CHEK2gether Project: A Comprehensive Study Identifies Functionally Impaired CHEK2 Germline Missense Variants Associated with Increased Breast Cancer RiskLenka Stolarova, Petra Kleiblova, Petra Zemankova, et al.
Human Mutation|February 21, 2018
The BRCA2 c.68-7T > A variant is not pathogenic: A model for clinical calibration of spliceogenicityMara Colombo, Irene Lòpez-Perolio, Huong D Meeks, et al.
British Journal of Cancer|June 20, 2019
Mendelian randomisation study of height and body mass index as modifiers of ovarian cancer risk in 22,588 BRCA1 and BRCA2 mutation carriersFrank Qian, Matti A Rookus, Goska Leslie, et al.
Communications Biology|October 6, 2022
Copy number variants as modifiers of breast cancer risk for BRCA1/BRCA2 pathogenic variant carriersChristopher Hakkaart, John F Pearson, Louise Marquart, et al.
Medrxiv : the Preprint Server for Health Sciences|March 18, 2024
Large-scale genome-wide association study of 398,238 women unveils seven novel loci associated with high-grade serous epithelial ovarian cancer riskDaniel R Barnes, Jonathan P Tyrer, Joe Dennis, et al.
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