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Germ-Line Mutation (0):
Recent article
Germ-Line Mutation
Orvosi Hetilap (152)28 2011
Abstract
With the development of the molecular biology more pathological condition have been identified (p53 mutation and breast cancer, Ret protooncogene point mutation and medullary thyroid cancer), which could lead to malignant disease. The recent advances in the molecular genetics lead to the recognition...
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PMID: 21737393
PDF is available here.
PDF is available here.
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Abstract
Providing accurate estimates of cancer risks is a major challenge in the clinical management of Lynch syndrome.
To estimate the age-specific cumulative risks of developing various tumors using a large series of families with mutations of the MLH1, MSH2, and MSH6 genes...
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PMID: 21642682
PDF is available here.
PDF is available here.
New England Journal of Medicine (364)23 2011
Abstract
We report a germ-line mutation in the gene encoding PRKAR1A, the cyclic AMP (cAMP)-dependent regulatory subunit of protein kinase A, in three unrelated patients with acrodysostosis and resistance to multiple hormones. The mutated subunit impairs the protein kinase A response to stimulation by cAMP;...
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PMID: 21651393
PDF is available here.
PDF is available here.
Abstract
Cancer Science (102)4 2011
Abstract
We recently demonstrated that accumulation of 8-oxoguanine in nuclear and mitochondrial DNA triggers two distinct cell death pathways that are independent of each other. Both pathways are initiated by the accumulation of MUTYH-generated single-strand breaks (SSBs) in nuclear or mitochondrial DNA. Ou...
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PMID: 21235684
PDF is available here.
PDF is available here.
New England Journal of Medicine (364)13 2011
Abstract
Abstract
We characterized metabolic C. elegans mutants by using novel and feasible BODIPY 493/503-based fat staining and flow cytometry approaches. Fixative as well as vital BODIPY staining procedures visualize major fat stores, preserve native lipid droplet morphology, and allow quantification of fat conten...
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PMID: 21421847
PDF is available here.
PDF is available here.
Abstract
Present data are highly suggestive but do not unequivocally prove the cosegregation of germ-line CDH1 mutations with inherited invasive lobular breast cancer (ILBC).
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PMID: 21271559
PDF is available here.
PDF is available here.
Methods in Cell Biology (104) 2011
Abstract
We describe both autonomous and non-autonomous transposable elements, and we compare and contrast popular transposon systems. The Tol2 system is a robust gene transfer tool and has been selected as the primary transposon platform, facilitating the development of an array of reagents readily shared w...
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PMID: 21924161
PDF is available here.
PDF is available here.
Acta clinica Belgica (66)1 2011
Abstract
Damage to DNA has emerged as a major culprit in cancer. Mammalian cells are continuously exposed to DNA damage, caused by exogenous toxins as well as endogenous activities such as DNA replication and cellular free radical generation. It is therefore essential that cells have DNA repair mechanisms in...
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PMID: 21485757
PDF is available here.
PDF is available here.
Abstract
We screened 53 individuals from 2 MNG and 3 MNG/SLCT families at McGill University for mutations in DICER1. We investigated blood lymphocytes and MNG and SLCT tissue from family members for loss of the wild-type DICER1 allele (loss of heterozygosity), DICER1 expression, and microRNA (miRNA) dysregul...
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PMID: 21205968
PDF is available here.
PDF is available here.
Abstract
We conducted a multicenter prospective study in which 3042 probands satisfying relaxed CS clinical criteria were accrued. PTEN mutation scanning, including promoter and large deletion analysis, was performed for all subjects. Pathogenic mutations were identified in 290 individuals (9.5%). To evaluat...
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PMID: 21194675
PDF is available here.
PDF is available here.
Abstract
Laboratory Investigation (90)11 2010
Abstract
We aimed at dissecting the mRNA splicing pattern of CD44 in normal stomach and gastric cancer (GC) cell lines (n=9) using cloning and quantitative mRNA amplification assays. Moreover, we assessed the RNA levels and protein expression pattern of relevant splicing forms in distinct premalignant and ma...
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PMID: 20856229
PDF is available here.
PDF is available here.
British Journal of Cancer (103)8 2010
Abstract
The BRCA2 gene is responsible for a high number of hereditary breast and ovarian cancers, and studies of the BRCA2 biological functions are limited by the lack of models that resemble the patient's tumour features. The aim of this study was to establish and characterise a new human breast carcinoma...
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PMID: 20877358
PDF is available here.
PDF is available here.
New England Journal of Medicine (363)14 2010
Abstract
We studied concordant and discordant monozygous twins with de novo mutations in the sodium channel α1 subunit gene (SCN1A) causing Dravet's syndrome, a severe epileptic encephalopathy. On the basis of our findings and the literature on mosaic cases, we conclude that de novo mutations in SCN1A may o...
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PMID: 20879882
PDF is available here.
PDF is available here.
Abstract
We examine the cancer mutation pattern for consistency with random forces or selection. We also compare the tumor mutation pattern to that observed in the population to gain insight on the mutation process in cancer. Among germline mtDNAs, all genes show strong deficiency in missense changes, reflec...
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PMID: 20613764
PDF is available here.
PDF is available here.
Obstetrics & Gynecology (116)3 2010
Abstract
We reviewed studies pertaining to prophylactic bilateral salpingo-oophorectomy in women at average risk of ovarian cancer who are undergoing hysterectomy for benign disease. We also reviewed the role of prophylactic bilateral salpingo-oophorectomy in preventing ovarian cancer based on the level of r...
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PMID: 20733460
PDF is available here.
PDF is available here.
Abstract
Preclinical recognition that BRCA1 and BRCA2-associated tumours are very sensitive to inhibition of poly-ADP ribose polymerase (PARP), a key molecule in DNA repair, led to ovarian cancer patients with germline BRCA1 and BRCA2 mutations being treated with the PARP inhibitor olaparib (AZD2281, KU-0059...
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PMID: 20485165
PDF is available here.
PDF is available here.
Abstract
We report that heterozygous germline mutations in CBL, a tumor-suppressor gene that is mutated in myeloid malignancies and encodes a multivalent adaptor protein with E3 ubiquitin ligase activity, can underlie a phenotype with clinical features fitting or partially overlapping Noonan syndrome (NS), t...
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PMID: 20619386
PDF is available here.
PDF is available here.
Nature Reviews: Genetics (11)8 2010
Abstract
Abstract
We introduced the R24C mutation into the Cdk4 locus of mice using Cre-loxP-mediated "knock-in" technology and observed a very low incidence of spontaneous melanomas in Cdk4(R24C/R24C) mice. This suggested that additional oncogenic mutations might be required for development of melanomas. Here we rep...
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PMID: 20703083
PDF is available here.
PDF is available here.
Abstract
Juvenile polyposis syndrome (JPS) can be caused by a germline defect of the SMAD4 gene. Somatic inactivation of SMAD4 occurs in pancreatic and colorectal cancers and is reflected by loss of SMAD4 immunohistochemistry. Here, SMAD4 immunohistochemistry as a marker of SMAD4 gene status and the role of S...
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PMID: 20682711
PDF is available here.
PDF is available here.
Experimental Dermatology (19)8 2010
Abstract
We have examined alterations in the cyclin-dependent kinase inhibitor 2A (CDKN2A) and cyclin-dependent kinase 4 (CDK4), major melanoma predisposing genes, in a Spanish melanoma-prone population comprising 61 patients from 45 families. Using an extensive genetic analysis of these genes, including seq...
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PMID: 20653773
PDF is available here.
PDF is available here.
The Lancet (376)9737 2010
Abstract
Patients had been given a median of three previous chemotherapy regimens (range 1-5 in cohort 1, and 2-4 in cohort 2). ORR was 11 (41%) of 27 patients (95% CI 25-59) in the cohort assigned to 400 mg twice daily, and six (22%) of 27 (11-41) in the cohort assigned to 100 mg twice daily. Toxicities wer...
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PMID: 20609467
PDF is available here.
PDF is available here.
The Lancet (376)9737 2010
Abstract
Patients had been given a median of three (range 1-16) previous chemotherapy regimens. ORR was 11 (33%) of 33 patients (95% CI 20-51) in the cohort assigned to olaparib 400 mg twice daily, and three (13%) of 24 (4-31) in the cohort assigned to 100 mg twice daily. In patients given olaparib 400 mg tw...
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PMID: 20609468
PDF is available here.
PDF is available here.
Abstract
We present the case of a 49-year-old woman with a past medical history of invasive ductal breast carcinoma 13 years ago, and who was recently diagnosed as having a low-grade adenosquamous carcinoma in the same breast. Genetic analysis of blood DNA revealed a BRCA1 mutation. To our knowledge, BRCA1 m...
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PMID: 20189727
PDF is available here.
PDF is available here.
Abstract
I diabetes. Functionally defective SIAE rare and polymorphic variants represent a strong genetic link to susceptibility in relatively common human autoimmune disorders....
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PMID: 20555325
PDF is available here.
PDF is available here.
Abstract
Patients with LFS may develop MDS, which is most likely therapy-related and is associated with cytogenetic markers of poor prognosis....
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PMID: 20586629
PDF is available here.
PDF is available here.
Nature Reviews: Cancer (10)7 2010
Abstract
Genetically engineered mouse models (GEMMs) of cancer have affected virtually all areas of cancer research. However, the accelerated discovery of new cancer genes emerging from large-scale cancer genomics and new chemical entities pouring from the drug discovery pipeline have strained the capacity o...
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PMID: 20574449
PDF is available here.
PDF is available here.
Abstract
Familial CLL does not appear to differ substantially from sporadic CLL in terms of prognostic markers and clinical outcome, although it may be associated with more indolent disease. The precursor condition, monoclonal B-cell lymphocytosis, also aggregates in CLL families. Linkage studies have been c...
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PMID: 20389242
PDF is available here.
PDF is available here.
Journal of Clinical Oncology (28)18 2010
Abstract
Uptake of presymptomatic testing was 55% (65 of 119). Of the total group, 23% reported clinically relevant levels of LFS-related distress. Carriers were not significantly more distressed than noncarriers or than those with a 50% risk who did not undergo genetic testing. Those with a lack of social s...
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PMID: 20479422
PDF is available here.
PDF is available here.
Cancer Research (70)12 2010
Abstract
We aimed to determine the prevalence of germline TP53 mutations in subgroups of early-onset breast cancer. Germline TP53 mutation status was assessed by DNA sequencing, screening for heterozygous single-nucleotide polymorphisms, and Multiplex Ligation-Dependent Probe Amplification analyses. From an...
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PMID: 20501846
PDF is available here.
PDF is available here.
Abstract
Abstract
A novel heterozygous 2275G>T mutation in exon 14 of the CDH1 gene was detected. This nonsense mutation generates a premature stop codon at position 758 giving rise to a truncated E-cadherin protein lacking cytoplasmic region. The specified mutation was detected in the index case and her asymptomatic...
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PMID: 20471195
PDF is available here.
PDF is available here.
Mutation Research (688)1-2 2010
Abstract
We compared cII mutant frequencies (MFs) in spermatozoa collected from male lambda transgenic medaka exposed to ethylnitrosourea (ENU) as either post-meiotic or pre-meiotic germ cells. cII MFs in spermatozoa exposed to ENU as spermatogonial stem cells were induced significantly, 9-fold, compared to...
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PMID: 20193694
PDF is available here.
PDF is available here.
Abstract
We studied 10 patients from 8 families with BSS. Analysis of germline mutations of the CYLD gene was performed using either peripheral blood or nontumorous tissue. In addition, 19 formalin-fixed paraffin-embedded tumor samples were analyzed for somatic mutations, including loss of heterozygosity stu...
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PMID: 20502185
PDF is available here.
PDF is available here.
Developmental Cell (18)5 2010
Abstract
We identify a phosphatase- and Erk-dependent role for Shp2 in neural crest specification and migration. We also identify an unexpected phosphatase- and Erk-independent function, mediated through its SH2 domains, which is evolutionarily conserved and prevents p53-mediated apoptosis in the brain and n...
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PMID: 20493809
PDF is available here.
PDF is available here.
Demography (47)2 2010
Abstract
We identify a central mechanism for this association: de novo mutations, which are deletions, insertions, and duplications of DNA in the germ cells that are not present in the parents' DNA. Along the way, we show that a demographic eye on the rising prevalence of autism leads to three major discover...
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PMID: 20608100
PDF is available here.
PDF is available here.
Abstract
Abstract
We identified a novel germ line mutation in the BRCA2 gene (c.51dupA) in a patient with early onset bilateral breast cancer and no family history of the disease. None of her parents carried the mutation, and paternity was confirmed. Subsequent molecular analysis demonstrated that the mutation was a...
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PMID: 19649703
PDF is available here.
PDF is available here.
Abstract
We screened germline mutations of GADD45A in 185 non-BRCA1/2 familial breast cancer patients, but no deleterious mutation was found. Seven single-nucleotide-polymorphisms were identified in a subsample. Five common variants (minor allele frequency > 10%) were genotyped for association analyses to sc...
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PMID: 19728081
PDF is available here.
PDF is available here.
Abstract
Germ line mutations in the VHL tumor-suppressor gene cause von Hippel-Lindau (VHL) disease, a hereditary neoplastic disease associated with clear-cell renal-cell carcinomas (ccRCCs), central nervous system hemangioblastomas and pheochromocytomas. Disruption of VHL, by somatic mutatio...
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PMID: 20368728
PDF is available here.
PDF is available here.
Abstract
In this study, 98 families with 101 mutations were analyzed in depth in which a mutation had been observed at one of the four loci D3S1358, FGA, ACTBP2, and VWA. To determine the origin (male/female) of the mutation, five to seven polymorphic flanking markers were selected for each locus concerned a...
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PMID: 19904551
PDF is available here.
PDF is available here.
Abstract
In the hypothesis-generating dataset, SNP rs4778137 (C>G) of the OCA2 gene at 15q13.1 was statistically significantly associated with overall survival among patients with estrogen receptor-negative tumors, with the rare G allele being associated with increased overall survival (HR of death per rare...
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PMID: 20308648
PDF is available here.
PDF is available here.
Nature Genetics (42)5 2010
Abstract
We have identified a homozygous missense mutation in the RAD51C gene in a consanguineous family with multiple severe congenital abnormalities characteristic of FA. RAD51C is a member of the RAD51-like gene family involved in homologous recombination-mediated DNA repair. The mutation results in loss...
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PMID: 20400963
PDF is available here.
PDF is available here.
Developmental Dynamics (239)5 2010
Abstract
In most species, each sex produces gametes, usually either sperm or oocytes, from its germline during gametogenesis. The sperm and oocyte subsequently fuse together during fertilization to create the next generation. This review focuses on spermatogenesis and the roles of sperm during fertilization...
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PMID: 20419782
PDF is available here.
PDF is available here.
Abstract
We examined the possibility of genomic changes in the AR in association with familial PCa in African Americans who have a higher incidence and mortality rate and a clinically more aggressive disease presentation than Caucasians. Genomic DNAs of 60 patients from 30 high-risk African American and Cauc...
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PMID: 20173765
PDF is available here.
PDF is available here.
Abstract
We report a patient with ALPS who developed histiocytic sarcoma in a background of sinus histiocytosis and massive lymphadenopathy or Rosai- Dorfman disease. This patient had documented ALPS type Ia with a germline missense mutation in exon 9 of the TNFRSF6 gene (973 A>T, D244V) encoding Fas (CD95/A...
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PMID: 20216376
PDF is available here.
PDF is available here.
Abstract
One mother of a child dying from Leigh syndrome due to the 9176T-->C mtDNA mutation transmitted various loads of mutant mtDNA to < or =3 of 20 oocytes. This was used to estimate recurrence as < or =5%. She subsequently conceived a healthy son naturally. Analysis of the placenta showed that some segr...
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PMID: 19914907
PDF is available here.
PDF is available here.
Abstract
We performed a detailed documentation of the pedigree of an LFS family with a comprehensive analysis of genotype-phenotype correlations. We sequenced the TP53 gene and verified that the proband carries a germline nonsense mutation in codon 146 in one allele, the TP53Arg72Pro polymorphism in the seco...
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PMID: 20198344
PDF is available here.
PDF is available here.
Abstract
None of the loci replicated in the SEARCH study (all P > 0.10). Assuming a minimum of 10 associated loci, the power to detect at least one with a minor allele frequency of 0.2 conferring a relative hazard of 2.0 at genome-wide significance (P = 5 x 10(-8)) was 99%. CONCLUSION: We did not identify an...
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PMID: 20332263
PDF is available here.
PDF is available here.
Clinical Cancer Research (16)7 2010
Abstract
BRCA2 mutation carriers had an increased risk of prostate cancer and a higher histologic grade, and BRCA1 or BRCA2 mutations were associated with a more aggressive clinical course. These results may have implications for tailoring clinical management of this subset of hereditary prostate cancer.
Cop...
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PMID: 20215531
PDF is available here.
PDF is available here.
Abstract
There were gene micromutations in 9 families with a micromutation detection rate of 64.3% (9/14), including 6 frameshift mutations (66.7%), 1 nonsense mutation (11.1%) and 2 splicing mutations (22.2%). Large fragment deletions were detected by MLPA in 2 families. The total mutation detection rate of...
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PMID: 20333795
PDF is available here.
PDF is available here.
Gynecologic Oncology (116)3 2010
Abstract
A diagnostic algorithm can identify patients with LS and those who warrant further genetic testing. Our findings reinforce the recommendation that women diagnosed with endometrial cancer before the age of 45 years and women with synchronous endometrial and ovarian cancer be screened for LS, irrespec...
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PMID: 20034658
PDF is available here.
PDF is available here.
Abstract
We report a 13-year-old African American boy with diffusely metastatic PGL and compound heterozygous mutation leading to a novel splice donor region DNA sequence variant in the SDHB gene. Family history was positive for non-classical congenital adrenal hyperplasia and pituitary adenoma. After surgic...
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PMID: 19927285
PDF is available here.
PDF is available here.
Abstract
Microsatellite instability (MSI) is the molecular fingerprint of a deficient mismatch repair system. Approximately 15% of colorectal cancers (CRC) display MSI owing either to epigenetic silencing of MLH1 or a germline mutation in one of the mismatch repair genes MLH1, MSH2, MSH6 or PMS2. Methods to...
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PMID: 20142816
PDF is available here.
PDF is available here.
Anticancer Research (30)3 2010
Abstract
The Birt Hogg Dubé syndrome (BHD) is a rare autosomal dominant genodermatosis predisposing patients to developing fibrofolliculoma, trichodiscoma and acrochordon. The syndrome is caused by germline mutations in the folliculin (FLCN) gene, encoding the folliculin tumor-suppressor protein. Numerous m...
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PMID: 20392993
PDF is available here.
PDF is available here.
Abstract
Cardiofaciocutaneous syndrome (CFC) and Noonan syndrome (NS) are two phenotypically overlapping genetic disorders whose underlying molecular etiologies affect a common signaling pathway. Mutations in the BRAF, MEK1, and MEK2 genes cause most cases of CFC and mutations in PTPN11, SOS1...
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PMID: 20186801
PDF is available here.
PDF is available here.
Gastric Cancer (13)1 2010
Abstract
Hereditary diffuse gastric cancer (HDGC) is the only known cancer syndrome that is dominated by gastric adenocarcinoma. HDGC is caused by germline mutation of the CDH1 gene that encodes the cell adhesion protein E-cadherin. Mutation carriers have a more than 70% lifetime risk of developing DGC and a...
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PMID: 20373070
PDF is available here.
PDF is available here.