Significados de inherited variant en inglés

We report the first family with a dominantly inherited mutation of the nebulin gene (NEB).

Impact: Our finding is the first instance of a plausible candidate high penetrance inherited mutation predisposing to NPC.

We describe the genetic findings, phenotypic variability, and recessive inheritance of an often dominantly inherited mutation as notable elements in their case.

The secondary mutation may involve a substantial loss of chromosomal material and thus lead to identification of the site of the inherited mutation.

We have studied three families with congenital onset, each with a dominantly inherited mutation in a C-terminal exon of the ryanodine receptor 1.

Non-tumoural tissue was sequenced to exclude germline variants in cases where available.

Hypothesis: Germline variants of double-strand break repair genes are markers of DTC risk.

Other possible AURKA germline variants were screened by sequencing 10 of the familial cases.

Background: During the process of tumor profiling, there is the potential to detect germline variants.

However, the putative contribution of common NOS3 germline variants to breast cancer risk remained unknown.

Twelve patients carrying BRCA1 germ-line mutation were included in the study.

The study includes 778 women carrying a BRCA1 germ-line mutation belonging to 403 families.

The present mutation is the 19th nucleotide substitution identified as a germ-line mutation at this locus and the second mutation generating a stop codon.

Options available for germ-line mutation carriers, in addition to cancer screening, include prophylactic colectomy as well as prophylactic total abdominal hysterectomy and bilateral salpingo-oophorectomy.

The germ-line mutation (G382D) of the human MUTYH gene is therefore likely to be responsible for the occurrence of a mutator phenotype in these patients.