Comprehensive Study of Germline Mutations and Double-Hit Events in Esophageal Squamous Cell Cancer
Frontiers in Oncology, 2021 Esophageal squamous cell cancer (ESCC) is the eighth most common cancer around the world. Several reports have focused on somatic mutations and common germline mutations in ESCC.
Bing Zeng +9 more
doaj +1 more source
Low frequency of somatic mutations in the FH/multiple cutaneous leiomyomatosis gene in sporadic leiomyosarcomas and uterine leiomyomas. [PDF]
, 2002 Germline mutations in the fumarate hydratase gene at 1q43 predispose to dominantly inherited skin and uterine leiomyomata and leiomyosarcomas. The enzyme, which is a component of the tricarboxylic acid cycle, acts as a tumour suppressor.
Flanagan, AM +19 more
core +1 more source
Interactions between Germline and Somatic Mutated Genes in Aggressive Prostate Cancer
Prostate Cancer, 2019 Prostate cancer (PCa) is the most common diagnosed malignancy and the second leading cause of cancer-related deaths among men in the USA. Advances in high-throughput genotyping and next generation sequencing technologies have enabled discovery of ...
Tarun Karthik Kumar Mamidi +2 more
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Log odds of carrying an Ancestral Mutation in BRCA1 or BRCA2 for a defined personal and family history in an Ashkenazi Jewish woman (LAMBDA) [PDF]
, 2003 INTRODUCTION: Ancestral mutations in BRCA1 and BRCA2 are common in people of Ashkenazi Jewish descent and are associated with a substantially increased risk of breast and ovarian cancer.
Ellen Solomon +30 more
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Research, 2023 While genetic factors were associated with over 30% of colorectal cancer (CRC) patients, mutations in CRC-susceptibility genes were identified in only 5% to 10% of these patients.
Yun Xu +11 more
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Phenotype of mosaic mutations and germline mutations.
, 2012 (A) Wild type (Nistari) and G0 individuals with mosaic mutations. Mosaic-1, Mosaic-2, and Mosaic-3 represent the three different types of mosaic mutations observed. (B) Mosaic mutation (A) magnified. The epidermal cells were completely opaque in the wild-
Chun Liu (47227) +9 more
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Meta-analysis of expression of l(3)mbt tumor-associated germline genes supports the model that a soma-to-germline transition is a hallmark of human cancers [PDF]
, 2014 Evidence is starting to emerge indicating that tumorigenesis in metazoans involves a soma-to-germline transition, which may contribute to the acquisition of neoplastic characteristics.
Feichtinger, Julia +2 more
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PLoS Genetics, 2017 Schinzel-Giedion syndrome (SGS) is a rare developmental disorder characterized by multiple malformations, severe neurological alterations and increased risk of malignancy. SGS is caused by de novo germline mutations clustering to a 12bp hotspot in exon 4
Rocio Acuna-Hidalgo +45 more
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Molecular and phenotypic diversity of CBL-mutated juvenile myelomonocytic leukemia
Haematologica, 2020 Mutations in the CBL gene were first identified in adults with various myeloid malignancies. Some patients with juvenile myelomonocytic leukemia (JMML) were also noted to harbor mutations in CBL, but were found to have generally less aggressive disease ...
Anna Hecht +28 more
doaj +1 more source
Figure S3 from BRCA2 Germline Mutations Identify Gastric Cancers Responsive to PARP Inhibitors
, 2023 Familial history of cancers of the GEA patients carrying BRCA2 germline LOF mutations.
Uberto Fumagalli (15388779) +32 more
core +2 more sources