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Segregation, immunohistochemical, molecular and functional analyses classify a novel missense variant in fumarate hydratase (FH) as pathogenic.
Genes Chromosomes Cancer. 2024 Feb;63(2):e23221. doi: 10.1002/gcc.23221.
Genes Chromosomes Cancer. 2024.
PMID: 38682608
Current gene panels account for nearly all homologous recombination repair-associated multiple-case breast cancer families.
Matis TS, Zayed N, Labraki B, de Ladurantaye M, Matis TA, Camacho Valenzuela J, Hamel N, Atayan A, Rivera B, Tabach Y, Tonin PN, Orthwein A, Mes-Masson AM, El Haffaf Z, Foulkes WD, Polak P.
Matis TS, et al. Among authors: camacho valenzuela j.
NPJ Breast Cancer. 2021 Aug 25;7(1):109. doi: 10.1038/s41523-021-00315-8.
NPJ Breast Cancer. 2021.
PMID: 34433815
Free PMC article.
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