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
Maastricht University Medical CentreORCID 0000-0003-4999-8847Unclaimed ORCID profile · follow to get notified of new preprints
Mutual co-authors in cluster
3 papers
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Sharon E. Johnatty, Emma Tudini, Michael T. Parsons…·Amanda B. Spurdle
A.S. van der Werf – ‘t Lam, James G. Dowty, Morrison Italia…·Maartje Nielsen
This study provides cancer risk estimates for MSH6 pathogenic variant carriers, identifying elevated risks for specific cancers like endometrial and ovarian cancer.
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.