Analysis of BRCA1, BRCA2 and PALB2 related Fanconi anemia identifies scope to expand disease phenotypic features and predict breast cancer risk in heterozygotes
Sharon E. Johnatty, Emma Tudini, Michael T. Parsons…·Amanda B. Spurdle
Author
Leiden University Medical CenterORCID 0000-0003-4068-9271Unclaimed ORCID profile · follow to get notified of new preprints
Mutual co-authors in cluster
3 papers
Recent·Most cited
Sharon E. Johnatty, Emma Tudini, Michael T. Parsons…·Amanda B. Spurdle
Setareh Moghadasi, Ramin Monajemi, Merel E. Braspenning…·Mar Rodríguez‐Girondo
CAL-Leiden is a co-segregation model for BRCA1, BRCA2, and PALB2 variant classification, integrating population data and cancer types to improve pathogenicity assessment.
Michael T. Parsons, Miguel de la Hoya, Marcy E. Richardson…·Amanda B. Spurdle
The paper refines ACMG/AMP variant classification criteria for BRCA1 and BRCA2 by calibrating evidence strength and improving classification consistency through expert panel review.