A novel germline mutation
in SDHA identified in a rare case of gastrointestinal stromal tumor complicated with renal cell carcinoma.
They found 5 pathogenic germline mutations
(1 in MLH1, 3 in MSH2, and 1 in MSH6) in 57 patients (8.8%; 5/57).
Certain populations carry higher incidents of germline mutations
. Founder's mutations are genetic abnormalities that are seen commonly in a specific population.
Ng Tang Fui et al., "A novel EPAS1/HIF2A germline mutation
in a congenital polycythemia with paraganglioma," Journal of Molecular Medicine, vol.
Three hypotheses have been proposed to explain why Lynch-like syndrome patients show MSI in the tumors but no DNA MMR germline mutation
: (1) there exist unknown gene mutations other than the DNA MMR genes in the germline that can drive MSI.
Juhlin et al., "Rare germline mutations
identified by targeted next-generation sequencing of susceptibility genes in pheochromocytoma and paraganglioma," The Journal of Clinical Endocrinology and Metabolism, vol.
In a subset of LS patients, a germline mutation
at the 3' end of the EPCAM (TACSTD1) gene has been identified resulting in allelic-specific methylation and transcription silencing of MSH2, which is located upstream of the EPCAM gene.
are known in three, all in the gene complex encoding succinate dehydrogenase (SDH): with subunits SDHD, SDHC, or SDHB mutated, any of which predisposes PGs .
Hereditary CRC has two forms, familial adenomatous polyposis (FAP) due to germline mutation
in the gene APC (Soravia et al., 1998; Pedemonte et al., 1998; Sieber et al., 2002) and hereditiary nonpolyposis colorectal cancer (HNPCC), also called Lynch syndrome due to germline mutation
in the DNA MMR genes (Nicolaides et al., 1994; Miyaki et al., 1997).
Brauckhoff et al reported that a germline mutation
of RET gene had a potential role in development of both MTC & PTC.M Rossi et al in 2005 reported that both RET and BRAF genes had a role in the genesis of MTCPTC collision tumour.
A total of 40 breast cancer patients have been studied for germline mutation
in both BRCA1 and BRCA2 genes to contribute to the clarifying of this situation; the entire BRCA1/2 were analyzed using a direct sequencing.
According to the company, the objective of the study is to characterise markers that can aid in the prognostication of women who are carriers of a BRCA germline mutation
. BRCA carriers are known to have a 60%-80% lifetime risk of developing breast cancer, but, as yet, no markers are known that signal the transition from a healthy breast to a breast at imminent risk of presenting with cancer.
The assessment of methylation status in both tumor and peripheral blood samples therefore has the potential to reveal differences that could help us better understand the tumor variability and penetrance observed in LFS TP53 germline mutation
Subjects with inherited multitumoral syndromes have a germline mutation
, usually a point mutation present in all cells of the body, which determines the occurrence of multiple tumors in the same individual.
there is a theoretical chance that the somatic mutation of the second allele of the MSH-2 gene in a patient with a germline mutation
may lead to the synthesis of a defective, but still detectable protein (17-23).