Comprehensive profiling of pathogenic germline large genomic rearrangements in a pan-cancer analysis.
Sign Up to like & getrecommendations! Published in 2023 at "Molecular oncology"
DOI: 10.1002/1878-0261.13430
Abstract: The presence of large genomic rearrangements (LGRs) has been heavily investigated in breast and ovarian cancer. However, correlations between LGRs and cancer types beyond these two have not been extensively profiled, likely due to the… read more here.
Keywords: germline; pathogenic germline; lgrs; cancer types ... See more keywords
Pathogenic “germline” variants associated with myeloproliferative disorders in apparently normal individuals: Inherited or acquired genetic alterations?
Sign Up to like & getrecommendations! Published in 2021 at "Clinical Genetics"
DOI: 10.1111/cge.14104
Abstract: Myeloproliferative syndromes (MPS) are hematologic malignancies due to the expansion of an abnormal hematopoietic stem cell. They include chronic myeloid leukemia (CML) and non‐CML MPS such as polycythemia vera, essential thrombocythemia and primary myelofibrosis. The… read more here.
Keywords: apparently normal; germline variants; pathogenic variants; normal individuals ... See more keywords
The avoiding late diagnosis of ovarian cancer (ALDO) project; a pilot national surveillance programme for women with pathogenic germline variants in BRCA1 and BRCA2
Sign Up to like & getrecommendations! Published in 2022 at "Journal of Medical Genetics"
DOI: 10.1136/jmg-2022-108741
Abstract: Background Our study aimed to establish ‘real-world’ performance and cost-effectiveness of ovarian cancer (OC) surveillance in women with pathogenic germline BRCA1/2 variants who defer risk-reducing bilateral salpingo-oophorectomy (RRSO). Methods Our study recruited 875 female BRCA1/2-heterozygotes… read more here.
Keywords: surveillance; pathogenic germline; ovarian cancer; cost ... See more keywords
NBN Pathogenic Germline Variants are Associated with Pan-Cancer Susceptibility and In Vitro DNA Damage Response Defects
Sign Up to like & getrecommendations! Published in 2022 at "Clinical Cancer Research"
DOI: 10.1158/1078-0432.ccr-22-1703
Abstract: Abstract Purpose: To explore the role of NBN as a pan-cancer susceptibility gene. Experimental Design: Matched germline and somatic DNA samples from 34,046 patients were sequenced using Memorial Sloan Kettering-Integrated Mutation Profiling of Actionable Cancer… read more here.
Keywords: cancer susceptibility; germline variants; pathogenic germline; pan cancer ... See more keywords
Hematologic indices in individuals with pathogenic germline DICER1 variants.
Sign Up to like & getrecommendations! Published in 2021 at "Blood advances"
DOI: 10.1182/bloodadvances.2020002651
Abstract: Pathogenic germline variants in DICER1 underlie an autosomal dominant, pleiotropic tumor-predisposition disorder. Murine models with the loss of DICER1 in hematopoietic stem cell progenitors demonstrate hematologic aberrations that include reductions in red and white blood… read more here.
Keywords: dicer1 variants; dicer1; dicer1 carriers; hematologic indices ... See more keywords
Management Strategies of Breast Cancer Patients with BRCA1 and BRCA2 Pathogenic Germline Variants
Sign Up to like & getrecommendations! Published in 2022 at "OncoTargets and Therapy"
DOI: 10.2147/ott.s369844
Abstract: Abstract Most of breast cancer cases are sporadic; however, 15–20% are associated with family history, and some are inherited. Among those, deleterious mutations in BRCA1 and BRCA2 tumor suppressor genes are the most commonly encountered… read more here.
Keywords: germline variants; pathogenic germline; brca1 brca2; breast cancer ... See more keywords