4.7 Review

Homologous Recombination Deficiencies and Hereditary Tumors

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Summary: Breast cancer affects a large number of patients, with 5-10% being genetically predisposed. Advances in NGS technology have led to the discovery of non-BRCA genes associated with breast and ovarian cancers. Research on HBOC involves predisposition, treatment, prevention, risk diagnosis, and protective measures for relatives, emphasizing the importance of updating cancer management protocols.

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Germline Mutations in Other Homologous Recombination Repair-Related Genes Than BRCA1/2: Predictive or Prognostic Factors?

Laura Cortesi et al.

Summary: This article explores the role of germline mutations in HRR-related genes other than BRCA1/2 in predicting responses to treatment and prognosis in breast and pancreatic cancer. Mutations in PALB2 and ATM genes have shown potential as predictive factors for treatment response and prognosis, suggesting their inclusion in routine sequencing for biological characterization of these cancers.

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Homologous Recombination Deficiency in Pancreatic Cancer: A Systematic Review and Prevalence Meta-Analysis

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Homologous Recombination Deficiency: Cancer Predispositions and Treatment Implications

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Retroperitoneal leiomyosarcoma in a female patient with a germline splicing variant RAD51D c.904-2A > T: a case report

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Risks of Breast, Ovarian, and Contralateral Breast Cancer for BRCA1 and BRCA2 Mutation Carriers

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HRDetect is a predictor of BRCA1 and BRCA2 deficiency based on mutational signatures

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Rad50 ATPase activity is regulated by DNA ends and requires coordination of both active sites

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Germline mutations in RAD51D confer susceptibility to ovarian cancer

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Mitotic homologous recombination maintains genomic stability and suppresses tumorigenesis

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Linking the Cellular Functions of BRCA Genes to Cancer Pathogenesis and Treatment

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BRCA Germline Mutations in Jewish Patients With Pancreatic Adenocarcinoma

Cristina R. Ferrone et al.

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Resistance to therapy caused by intragenic deletion in BRCA2

Stacey L. Edwards et al.

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PALB2, which encodes a BRCA2-interacting protein, is a breast cancer susceptibility gene

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R Hashizume et al.

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