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Analysis of <i>BRCA1</i> , <i>BRCA2</i> and <i>PALB2</i> related Fanconi anemia identifies scope to expand disease phenotypic features and predict breast cancer risk in heterozygotes

2025-05-26

Abstract excerpt

<h4>ABSTRACT</h4> Recessive Fanconi anemia (FA) phenotype is used in classification of BRCA1/FANCS , BRCA2/FANCD1 and PALB2/FANCN variants with respect to dominant hereditary breast- ovarian cancer syndrome. We assessed its utility by examining the spectrum of phenotypes observed in individuals biallelic for BRCA1 , BRCA2 or PALB2 pathogenic variants, and exploring the relationship between cancer presentati...

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Literature Corpus work
c107f86d-0834-542d-9dba-c881e5a1a606
DOI
10.1101/2025.05.25.25327887
Open publication

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Analysis of <i>BRCA1</i> , <i>BRCA2</i> and <i>PALB2</i> related Fanconi anemia identifies scope to expand disease phenotypic features and predict breast cancer risk in heterozygotesDOI 10.1101/2025.05.25.25327887
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