germline mutation
Molecular description of non-autoimmune hyperthyroidism at a neonate caused by a new thyrotropin receptor germline mutation
... heterozygous mutation in the first extracellular loop of the TSHR gene leading to an exchange of an isoleucine residue for asparagine at amino acid position 486 ...TSHR germline mutation (I486N) in a ...
7
BRCA1 germline mutation and glioblastoma development: report of cases
... pathogenic germline mutation, the tumour- suppressor protein expression is maintained in GBM, suggesting that the BRCA1 mutation is not instrumental for GBM ...between mutation of BRCA1 and ...
7
Three synchronous primary carcinomas in a patient with HNPCC associated with a novel germline mutation in MLH1: Case report
... Case presentation: We report a 47 year-old male with hereditary nonpolyposis colorectal cancer (HNPCC) associated with a novel germline mutation in MLH1. This patient expressed a rare and severe phenotype ...
6
Original Article A novel germline mutation in SDHA identified in a rare case of gastrointestinal stromal tumor complicated with renal cell carcinoma
... loss-of-function germline mutation in one allele and somatic loss-of- function mutations in the tumor cell ...any mutation in the other allele, indicating that tumors could be found in patients with ...
10
BRCA promoter methylation in sporadic versus BRCA germline mutation related breast cancers
... BRCA2 germline mutation carriers (BRCA1/2-related breast carcinomas) and sporadic breast carcinomas using a recently developed BRCA methylation MS-MLPA ...
13
Case Report A novel germline mutation in SMAD4 gene in a hereditary hemorrhagic telangiectasia family
... Recently, germline mutations, including muta- tions in the ENG, GDF2, ACVRL1 and SMAD4 genes, have been clarified to be involved in HHT ...novel germline mutation in the SMAD4 ...this mutation ...
5
Synchronous bilateral pheochromocytomas and paraganglioma with novel germline mutation in MAX: a case report
... some germline gene mutation associated with PPGL, we performed genetic testing under her and her family’s con- ...erozygous germline mutation in MAX ...
5
First description of a sporadic breast cancer in a woman with BRCA1 germline mutation
... a germline BRCA mutation are rather poor and evidence rarity of such phenotype ...pathogenic germline BRCA1 mutation and diagnosed with a HER2-positive breast ...BRCA1 germline ...
9
A novel pathogenic germline mutation in the adenomatous polyposis coli gene in a Chinese family with familial adenomatous coli
... extracted. Mutation analysis of APC was conducted by targeted next-generation sequencing, long-range PCR and Sanger ...novel mutation in exon ...the germline mutation spectrum of the APC gene ...
8
Statistical Methods for Analyzing Drosophila Germline Mutation Rates
... of mutation rates implicitly assume that they remain constant throughout development of the ...that mutation rates differ dramatically during sperm development in Drosophila ...of germline ...
10
No Evidence of Elevated Germline Mutation Accumulation Under Oxidative Stress in Caenorhabditis elegans
... and mutation in the soma ...mev-1(kn1) mutation is considered to be mutagenic, as indicated by increased transformation rates in a transgenic mouse cell line with the equivalent mutation (Ishii et ...
11
First-positive surveillance screening in an asymptomatic SDHA germline mutation carrier
... At least 40% of phaeochromocytomas and paraganglioma’s (PPGLs) are associated with an underlying genetic mutation. The understanding of the genetic landscape of these tumours has rapidly evolved, with 18 ...
5
Linkage studies in a Li-Fraumeni family with increased expression of p53 protein but no germline mutation in p53
... Positive staining with p53 antibody, however, which affected nearly every cell, was seen in normal tissue as well as tumour tissue in four affected family members.. CMI antibody is highl[r] ...
6
Clinical features and outcomes of germline mutation BRCA1-linked versus sporadic ovarian cancer patients
... Based on a cohort of 316 ovarian cancer patients taken from TCGA, 77.8 % had BRCA1/2 wild type, 8.5 % had germline mutations, 3.1 % had somatic mutations, and 10.4 % had BRCA1 hypermethylation. Detailed analyses ...
8
Therapy susceptible germline-related BRCA 1-mutation in a case of metastasized mixed adeno-neuroendocrine carcinoma (MANEC) of the small bowel
... 5]. Germline mutations of BRCA1/2 (gBRCA-mut) were described in carcinoma of the ovary in 5–18% and in some other solid malignant tumors including breast carcinoma, pancreatic carcin- oma and less frequent in ...
7
Contrasting Determinants of Mutation Rates in Germline and Soma
... both germline and soma, there are hints of differences as ...the mutation rates in somatic tissues decrease with expression levels, and increase with later replication timing (Lawrence et ...of ...
13
Number of rare germline CNVs and TP53 mutation types
... TP53 germline mutation carriers compared to normal individuals, and proposed that this increase might result from enhanced genome instability in the presence of TP53 ...DBD mutation carriers as com- ...
6
Breast adenocarcinoma recurring as small cell carcinoma in a patient with a germline BRCA2 mutation: clonal evolution unchecked
... PIK3CA mutation is identified in the COSMIC database as a somatic muta- tion, and it is known to be rather common, as described ...line mutation. Furthermore, we believe the TP53 mutation is a ...
5
Germline HOXB13 p.Gly84Glu mutation and cancer susceptibility: a pooled analysis of 25 epidemiological studies with 145,257 participates
... HOXB13, which encodes the transcription factor 13, belongs to the HOXB gene cluster at chromosome 17 [12], involves in embryonic development of different organs [13], regulates transcription of androgen receptor (AR) ...
10
Thyroid cancer in a patient with a germline MSH2 mutation. Case report and review of the Lynch syndrome expanding tumour spectrum
... gene mutation carriers than in the general ...gene mutation carriers and/or subsequently the accumulation of clinically important unrepaired mutations in cancer- associated target genes are apparently ...
7