occur in 20% to 30% of medullary thyroid cancers, (24) with implications for the patient and family.
Loss of MSH6 or PMS2 alone is usually observed with a germline mutation
in the respective gene, but with retained expression of MSH2 or MLH1.
Deidentified clinical samples with documented germline mutations
in genes associated with hereditary nonpolyposis colorectal cancer (HNPCC) or polyposis syndromes (MLH1, MSH2, MSH6,or APC) were selected for analysis.
PDGFRA germline mutation
in a family with multiple cases of gastrointestinal stromal tumor.
in KIT and PDGFRA have been documented.
The fundamental defect in LS is a germline mutation
in a gene in the MMR pathway.
A small percentage of CRCs that arise via the MSI pathway are inherited as the result of a germline mutation
in one of the mismatch repair (MMR) genes (Lynch syndrome/hereditary nonpolyposis colon cancer [HNPCC]; about 2% to 5% of all cases of CRCs).
12) Most patients with LFS carry a germline mutation
in one TP53 allele; in many cases, somatic mutation of the other allele is present in the tumor.
The precision of CRISPR technology means if a patient does have a germline mutation
that predisposes them to cancer, there is the possibility that the technology could target and correct that fault in the future," she says.
Patients with an MSI-H phenotype in their cancer tissues may have a germline mutation
in 1 of several DNA MMR genes (eg, MLH1, MSH2, MSH6, or PMS2) or an altered EPCAM (TACSTD1) gene.
The core hypothesis of this research programme is that the extremely high risk of BRCA1/2 germline mutation
carriers to develop breast and ovarian cancer is a net consequence of cell-autonomous (direct effect of BRCA mutation in cells at risk) and cell non-autonomous (produced in distant organs and affecting organs at risk) factors which both trigger epigenetic, cancer-initiating effects.
Von Hippel-Lindau disease is a hereditary cancer syndrome caused by a germline mutation
in or deletion of the VHL gene, and patients are at risk for developing tumors and fluid-filled sacs (cysts) in a number of organs.
Clinical characteristics of ocular angiomatosis in von Hippel-Lindaudisease and correlation with germline mutation
The authors also provide compelling evidence that germline mutation
rates are not constant throughout the lifetime of an organism, and that spontaneous mutation may be more likely to occur during the expansion of male primordial germ cell precursors in embryogenesis than during other developmental stages or post-pubertal spermatogenesis.
Hereditary CRC has two forms, familial adenomatous polyposis (FAP) due to germline mutation
in the gene APC (Soravia et al.