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Age of ovarian cancer diagnosis among BRIP1, RAD51C, and RAD51D mutation carriers identified through multi-gene panel testing
BackgroundProfessional society guidelines recommend risk-reducing sal**o-oophorectomy (RRSO) for women with pathogenic variants (PVs) in ovarian...
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Association of RAD51C germline mutations with breast cancer among Bahamians
PurposeRAD51C is known as an ovarian cancer gene; however, its role in breast cancer susceptibility is less clear. As part of a larger study, we...
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BRIP1, RAD51C, and RAD51D mutations are associated with high susceptibility to ovarian cancer: mutation prevalence and precise risk estimates based on a pooled analysis of ~30,000 cases
BackgroundIt is estimated that more than 20% of ovarian cancer cases are associated with a genetic predisposition that is only partially explained by...
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Aggressive progression to EGFR tyrosine kinase inhibitors in advanced NSCLC patients: concomitant mutations, prognostic indicator and subsequent management
BackgroundEGFR tyrosine kinase (TKIs) are recommend as the first-line treatment for non-small cell lung cancer (NSCLC) patients with EGFR mutation....
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Methylation marks in blood DNA reveal breast cancer risk in patients fulfilling hereditary disease criteria
Less than 15–20% of patients who meet the criteria for hereditary breast and ovarian cancer (HBOC) carry pathogenic coding genetic mutations,...
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Germline pathogenic variants in BRCA1, BRCA2, PALB2 and RAD51C in breast cancer women from Argentina
PurposeEach year, 17,000 new breast cancer cases are diagnosed in Argentina, and 5400 women die of breast cancer. The contribution of cancer-related...
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Pathogenic variants among females with breast cancer and a non-breast cancer reveal opportunities for cancer interception
PurposeHerein, we report the frequency and distribution of germline pathogenic variants (PVs) among females with breast cancer (BC) and at least one...
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A comprehensive analysis of Fanconi anemia genes in Chinese patients with high-risk hereditary breast cancer
BackgroundFour Fanconi anemia (FA) genes ( BRCA1 , BRCA2, PALB2 and RAD51C ) are defined as breast cancer (BC) susceptibility genes. Other FA genes...
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A comprehensive study on surveillance outcomes of a male population followed at a hereditary breast cancer high-risk consultation at a Portuguese tertiary hospital
IntroductionMen born with pathogenic/likely pathogenic variants in genes associated with the Hereditary Breast and Ovarian Cancer Syndrome have a...
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Synchronous lung and multiple soft tissue metastases developed from osteosarcoma of tibia: a rare case report and genetic profile analysis
BackgroundOsteosarcoma is the most common primary malignant bone tumor with a highly metastatic propensity in children and young adolescents. The...
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Molecular alterations and prognosis of breast cancer with cutaneous metastasis
PurposeCutaneous metastasis (CM) accounts for 5–30% of patients with breast cancer (BC) and presents unfavorable response to treatment and poor...
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Retrospective genetic testing (Traceback) in women with early-onset breast cancer after revised national guidelines: a clinical implementation study
PurposeThis study focused on identifying a hereditary predisposition in women previously diagnosed with early-onset breast cancer through a...
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Demographics and Clinical Decision Making in Patients with Germline Moderate Penetrance Non-BRCA Mutations in Breast Cancer Related Genes
BackgroundManagement of pathogenic variants in high penetrance genes related to breast cancer (BC), such as BRCA1 and BRCA2, are well established....
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Overlap of high-risk individuals predicted by family history, and genetic and non-genetic breast cancer risk prediction models: implications for risk stratification
BackgroundFamily history, and genetic and non-genetic risk factors can stratify women according to their individual risk of develo** breast cancer....
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Interdisciplinary risk counseling for hereditary breast and ovarian cancer: real-world data from a specialized center
PurposeHereditary breast and ovarian cancer has long been established to affect a considerable number of patients and their families. By identifying...
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Mutational signatures for breast cancer diagnosis using artificial intelligence
BackgroundBreast cancer is the most common female cancer worldwide. Its diagnosis and prognosis remain scanty, imprecise, and poorly documented....
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Germline findings in cancer predisposing genes from a small cohort of chordoma patients
IntroductionChordoma is a rare slow-growing tumor that occurs along the length of the spinal axis and arises from primitive notochordal remnants...
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Spectrum of germline pathogenic variants in Brazilian hereditary breast/ovarian cancer cases
PurposeTo define the spectrum of germline pathogenic variants (PVs) and copy number variant (CNV) in cancer susceptibility genes to the burden of...
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Familiärer Brust- und Eierstockkrebs – Prävention und Therapie
In more than 25% of all index patients who fulfil the criteria of the German Consortium of Familial Breast and Ovarian Cancer (DK) for germline...
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Screening and Testing for Homologous Recombination Repair Deficiency (HRD) in Breast Cancer: an Overview of the Current Global Landscape
Purpose of ReviewHomologous recombination repair deficiency (HRD) increases breast cancer susceptibility and influences both prophylactic and active...
