18, 2015 /PRNewswire/ -- The most detailed analysis yet of the role germline mutations
in genes associated with cancer predisposition play in the development of childhood cancer suggests that comprehensive genomic screening may be warranted on all pediatric cancer patients, not just those with a family history of cancer.
affecting the proofreading domains of POLE and POLD1 predispose to colorectal adenomas and carcinomas.
The significance of residual TDLU in the nipple is not clear, especially in breast cancer germline mutation
carriers seeking prophylactic NSM at young age, and needs to be determined by future long-term prospective trials.
of the gene encoding bone morphogenetic protein receptor 1A in juvenile polyposis.
For example, Parsons said that a phenomenon called anticipation is seen in families that have successive generations of TP53 germline mutations
of the APC gene in patients with familial adenomatous polyposis associated thyroid carcinoma: results from a European cooperative study.
First we need to consider the difference between testing for somatic cell mutations and germline mutations
, because the issues are different.
In most cases, tissue from lesions is juxtaposed with normal residual tissue on microscopic slides, so that any test for a putatively somatic genetic alteration in the lesion could readily detect the presence or absence of change in the neighboring tissue, indicating the presence of a germline mutation
Because a child's DNA represents a combination of germline DNA from both parents, any sequence in the child that does not appear in either parent must result from a germline mutation
The absence of PDGFRA mutation in the cystic lymph node of Lund in the studied specimen ruled out the possibility of a germline mutation
There is usually a VHL tumor suppressor gene germline mutation
with an autosomal dominant inheritance pattern.
Individuals with a germline mutation
in any of these genes have a significant lifetime risk of developing CRC (70% for men, 40% for women), as well as a heightened risk for the development of cancers at other sites, including the endometrium, ovary, stomach, small bowel, urinary tract, and pancreas.