Copy Number Variation and Clinical Outcomes in Patients With Germline PTEN Mutations
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DOI: 10.1001/jamanetworkopen.2019.20415
Abstract: This cohort study assesses whether copy number variations are associated with specific phenotypes in patients with germline PTEN mutations. read more here.
Keywords: copy number; number variation; patients germline; pten mutations ... See more keywords
Olaparib monotherapy for Asian patients with a germline BRCA mutation and HER2-negative metastatic breast cancer: OlympiAD randomized trial subgroup analysis
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DOI: 10.1038/s41598-020-63033-4
Abstract: The OlympiAD Phase III study (NCT02000622) established the clinical benefits of olaparib tablet monotherapy (300 mg twice daily) over chemotherapy treatment of physician’s choice (TPC) in patients with a germline BRCA1/2 mutation (gBRCAm) and human epidermal… read more here.
Keywords: subgroup; negative metastatic; asian patients; study ... See more keywords
Cancer risk and tumour spectrum in 172 patients with a germline SUFU pathogenic variation: a collaborative study of the SIOPE Host Genome Working Group
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DOI: 10.1136/jmedgenet-2021-108385
Abstract: Background Little is known about risks associated with germline SUFU pathogenic variants (PVs) known as a cancer predisposition syndrome. Methods To study tumour risks, we have analysed data of a large cohort of 45 unpublished… read more here.
Keywords: sufu pathogenic; germline sufu; risk; patients germline ... See more keywords
Spectrum of Hematological Malignancies in 130 Patients with Germline Predisposition Syndromes - Mayo Clinic Germline Predisposition Study
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DOI: 10.1182/blood-2020-139050
Abstract: Introduction Germline predisposition syndromes (GPS) are inherited disorders associated with germinal aberrations that increase the risk of malignancies. While aberrations in certain genes increase the risk for all types of malignancies (Tp53, ATM, CDKN2A, CHEK2),… read more here.
Keywords: 130 patients; predisposition; germline predisposition; hematological malignancies ... See more keywords
A new targeted treatment for patients with a germline BRCA mutation: olaparib in pancreatic cancer.
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DOI: 10.2217/fon-2020-0334
Abstract: Pancreatic cancer has a poor prognosis. Focused efforts in the development of novel treatments of this disease have led to the approval of new combinations. Improvements in knowledge of the biology of these tumors have… read more here.
Keywords: germline brca; olaparib pancreatic; brca mutation; pancreatic cancer ... See more keywords
Prioritization of patients for germline testing based on tumor profiling of hematopoietic malignancies
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DOI: 10.3389/fonc.2023.1084736
Abstract: Germline predisposition to hematopoietic malignancies is more common than previously appreciated, with several clinical guidelines advocating for cancer risk testing in an expanding pool of patients. As molecular profiling of tumor cells becomes a standard… read more here.
Keywords: testing based; germline testing; hematopoietic malignancies; prioritization patients ... See more keywords