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Germline genetic findings which may impact therapeutic decisions in families with a presumed predisposition for hereditary breast and ovarian cancer

AuthorsVelázquez Pérez, Carolina; Leeneer, Kim de; Esteban Cardeñosa, Eva ; Avila Cobos, Francisco; Lastra, Enrique; Abella, Luis E.; Cruz, Virginia de la; Lobatón, Carmen D.; Claes, Kathleen B.; Durán, Mercedes ; Infante, Mar
genetic testing
variant prioritisation
therapeutic selection
family history
clinical guidelines
Issue Date3-Aug-2020
PublisherMultidisciplinary Digital Publishing Institute
CitationCancers 12(8): 2151 (2020)
AbstractIn this study, we aim to gain insight in the germline mutation spectrum of ATM, BARD1, BRIP1, ERCC4, PALB2, RAD51C and RAD51D in breast and ovarian cancer families from Spain. We have selected 180 index cases in whom a germline mutation in BRCA1 and BRCA2 was previously ruled out. The importance of disease-causing variants in these genes lies in the fact that they may have possible therapeutic implications according to clinical guidelines. All variants were assessed by combined annotation dependent depletion (CADD) for scoring their deleteriousness. In addition, we used the cancer genome interpreter to explore the implications of some variants in drug response. Finally, we compiled and evaluated the family history to assess whether carrying a pathogenic mutation was associated with age at diagnosis, tumour diversity of the pedigree and total number of cancer cases in the family. Eight unequivocal pathogenic mutations were found and another fourteen were prioritized as possible causal variants. Some of these molecular results could contribute to cancer diagnosis, treatment selection and prevention. We found a statistically significant association between tumour diversity in the family and carrying a variant with a high score predicting pathogenicity (p = 0.0003).
Publisher version (URL)https://doi.org/10.3390/cancers12082151
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