Article
BRCA1-, BRCA2-, and PALB2-related Fanconi anemia: Scope to expand disease phenotypic features and predict breast cancer risk in heterozygotes.
American journal of human genetics - 4 Dec 2025
Johnatty Sharon E, Tudini Emma, Parsons Michael T, Michailidou Kyriaki, Zanti Maria, Canson Daffodil M, Davidson Aimee L, Berger Tamar, Rosti Rasim Ozgur, Kratz Christian P, Kalb Reinhard, McReynolds Lisa J, Giri Neelam, Richardson Marcy E, Pesaran Tina, Surrallés Jordi, Pujol Roser, Vundinti Babu Rao, George Merin, Maxwell Kara N, Nathanson Kate, Domchek Susan, Fiesco-Roa Moisés Ó, Frias Sara, García-de-Teresa Benilde, Jongmans Marjolijn, Lalani Seema, Maiburg Merel, Prescott Katrina, Robinson Rachel, Rajagopalan Sulekha, Blok Lot Snijders, Temple Suzanna E L, Tucker Kathy, Auerbach Arleen D, Cancio Maria I, Kennedy Jennifer A, MacMillan Margaret L, Tryon Rebecca, Wagner John E, Walsh Michael, Boddicker Nicholas J, Hu Chunling, Weitzel Jeffrey N, Dingemans Alexander J M, Hadler Johanna, Rotenberg Nitsan, Ramadane-Morchadi Lobna, Hoya Miguel de la, James Paul, Van Overeem Hansen Thomas, Vreeswijk Maaike P G, Walker Logan C, Sharan Shyam K, Easton Douglas F, Couch Fergus, Smogorzewska Agata, Nelson Adam, Ngeow Joanne, Tischkowitz Marc, Gomez-Garcia Encarnacion, Spurdle Amanda B
Abstract excerpt
The recessive Fanconi anemia (FA) phenotype is used to classify BRCA1 (FANCS), BRCA2 (FANCD1), and PALB2 (FANCN) variants with respect to dominant hereditary breast-ovarian cancer syndrome. We assessed its utility by examining the phenotypic spectrum observed in individuals with bi-allelic BRCA1, BRCA2, or PALB2 pathogenic variants and exploring the relationship between cancer presentation and allele severity...
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