Significados de germ-line mutation em inglês

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.

DNA from probands of linked families was examined for germ-line mutations in PODXL.

PALB2 germ-line mutations contribute to a small fraction of cancer cases in Russia.

A 7-fold association between germ-line mutations and family history of breast-ovarian cancer emerged.

This disease is caused by germ-line mutations in the base excision repair MYH gene.

We demonstrate the first three germ-line mutations in ATM identified by screening of breast cancer patients.

A BRCA2 allele transcript imbalance was found in one of four heterozygotes tested, all of them negative for germ-line mutations.

Germ-line mutations in PTEN have also been described in Cowden disease and in a small number of patients with juvenile polyposis syndrome.

Germ-line mutations in BRCA1 and BRCA2 genes are associated with 5-10% of breast cancer incidence.

We wanted to examine which microsatellite markers currently used to detect MSI best predict early-onset colorectal cancer caused by germ-line mutations in MMR genes.

Germ-line mutations in the KIT receptor tyrosine kinase gene have been described in families with a propensity to develop gastrointestinal stromal tumor (GIST).

Carriers of germ-line mutations in the breast cancer susceptibility genes BRCA1 and BRCA2 are particularly prone to develop breast cancer.