Prevalence of the CHEK2 R95* germline mutation [PDF]
Hereditary Cancer in Clinical Practice, 2016 While germline CHEK2 mutations have been linked to a moderately elevated cancer risk, to date, a limited number of such mutations have been identified. Recently, we reported a germline nonsense mutation (C283T; R95*), introducing an early stop-codon, in two Norwegian patients diagnosed with locally advanced breast cancer.
Knappskog, Stian +6 more
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Novel PHOX2B germline mutation in childhood medulloblastoma: a case report
Hereditary Cancer in Clinical Practice, 2021 Background Medulloblastoma is an aggressive brain tumor mostly found in children, few studies on pathogenic germline mutations predisposing this disease was reported. Case presentation We present an 11-year-old male with medulloblastoma, who harbors a de
Caiping Ke +11 more
doaj +1 more source
Case report: Neuroendocrine breast carcinoma with a germline EGFR T790M mutation
Frontiers in Oncology, 2023 BackgroundThe epidermal growth factor receptor (EGFR) p.Thr790Met (T790M) mutation was discovered as a resistance mechanism in patients with lung cancer treated with first- and second-generation tyrosine kinase inhibitors.
Olivia A. Sagan +5 more
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The Evolutionary Interplay of Somatic and Germline Mutation Rates [PDF]
Annual Review of Biomedical Data ScienceAnnabel C Beichman +2 more
exaly +2 more sources
Three germline mutations in theTP53 gene [PDF]
Human Mutation, 1997 Three germline mutations in the TP53 tumor-suppressor gene are reported, two of which are not reported previously. A missense mutation at codon 265 of TP53 was found in three patients of a family that complied with the definition of the Li-Fraumeni syndrome.
Cornelis, R.S. +8 more
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Complex Germline K757N Mutation in Non-Small-Cell Lung Cancer: A Case Report
Case Reports in Oncology, 2022 Epidermal growth factor receptor (EGFR) mutations are usually oncogenic drivers of lung tumor development and progression. While common sensitizing mutations respond well to targeted therapy, the relevance of germline EGFR mutations is less clear.
Boaz Wong +2 more
doaj +1 more source
Identification of novel germline mutations in hereditary colorectal cancer patients and characterization of somatic alterations in their tumors [PDF]
, 2008 Colorectal cancer has been reported as the third leading cause of cancer related death in the world. About 5-10% of colorectal cancers are due to an inherited predisposition.
Zhang, Jian
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Impact of BRCA1/2 germline mutation on the incidence of second primary cancer following postoperative radiotherapy in patients with triple-negative breast cancer [PDF]
Zhongguo aizheng zazhiBackground and purpose: BRCA1/2 plays an important role in maintaining the genome stability. Whether BRCA1/2 germline mutation could increase the tumor sensitivity to radiotherapy, thereby inducing secondary primary cancer after radiotherapy is unclear ...
HU Xiaoyu, CAI Yuwen, YE Fugui, SHAO Zhimin, HU Weigang, YU Keda
doaj +1 more source
Hereditary Cancer in Clinical Practice, 2021 DNA mismatch repair (MMR) genes play an important role in maintaining genome stability. Germline mutations in MMR genes disrupt the mismatch repair function and cause genome instability.
Min Zhang, Tianhui Chen
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Extended microsatellite analysis in microsatellite stable, MSH2 and MLH1 mutation-negative HNPCC patients: Genetic reclassification and correlation with clinical features [PDF]
, 2004 Background: Hereditary nonpolyposis colorectal cancer (HNPCC) is an autosomal dominant disorder predisposing to predominantly colorectal cancer (CRC) and endometrial cancer frequently due to germline mutations in DNA mismatch repair (MMR) genes, mainly ...
Gross, M. +9 more
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