Cancer Research and Treatment10.4143/crt.2016.43320174941012-1021Identification of a Novel BRCA1 Pathogenic Mutation in Korean Patients Following Reclassification of BRCA1 and BRCA2 Variants According to the ACMG Standards and Guidelines Using Relevant Ethnic ControlsJi Soo Park, Eun Ji Nam, Hyung Seok Park, Jung Woo Han, Jung-Yun Lee, Jieun Kim, Tae Il Kim, Seung-Tae Lee,,
Genetics in Medicine10.1038/gim.2016.39201618121250-1257Comparative analysis of BRCA1 and BRCA2 variants of uncertain significance in patients with breast cancer: a multifactorial probability-based model versus ACMG standards and guidelines for interpreting sequence variantsKyung Sun Park, Eun Yoon Cho, Seok Jin Nam, Chang-Seok Ki, Jong-Won Kim,,,,
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Human Mutation10.1002/humu.2219720133410v-vClassifying the Effects of BRCA1 and BRCA2 Variants on Splicing - A Systematic StudyMarc Greenblatt,
Scientific Reports10.1038/s41598-020-63100-w2020101Founder BRCA1/BRCA2/PALB2 pathogenic variants in French-Canadian breast cancer cases and controlsSupriya Behl, Nancy Hamel, Manon de Ladurantaye, Stéphanie Lepage, Réjean Lapointe, Anne-Marie Mes-Masson, William D. Foulkes,,
Human Mutation10.1002/1098-1004(200010)16:4<345::aid-humu7>;2-#2000164345-353Identification of specific BRCA1 and BRCA2 variants by DHPLCEva Gross, Norbert Arnold, Katharina Pfeifer, Katrin Bandick, Marion Kiechle;2-#,,
PLoS ONE10.1371/journal.pone.0086836201491e86836Multifactorial Likelihood Assessment of BRCA1 and BRCA2 Missense Variants Confirms That BRCA1:c.122A>G(p.His41Arg) Is a Pathogenic MutationPhillip J. Whiley, Michael T. Parsons, Jennifer Leary, Kathy Tucker, Linda Warwick, Belinda Dopita, Heather Thorne, Sunil R. Lakhani, David E. Goldgar, Melissa A. Brown, Amanda B. Spurdle
International Journal of Molecular Sciences10.3390/ijms20143442201920143442BRCA1 and BRCA2 Testing through Next Generation Sequencing in a Small Cohort of Italian Breast/Ovarian Cancer Patients: Novel Pathogenic and Unknown Clinical Significance VariantsPaola Concolino, Gianfranco Gelli, Roberta Rizza, Alessandra Costella, Giovanni Scambia, Ettore Capoluongo
Human Mutation10.1002/humu.215132011327735-742Comprehensive prediction of mRNA splicing effects of BRCA1 and BRCA2 variantsEliseos J. Mucaki, Peter Ainsworth, Peter K. Rogan,