当前位置： SCI文献检索 > HUMAN MOLECULAR GENETICS期刊下所有文献 > Comparison of BRCA1 polymorphisms, rare sequence variants and/or missense mutations in unaffected and breast/ovarian cancer populations.

Comparison of BRCA1 polymorphisms, rare sequence variants and/or missense mutations in unaffected and breast/ovarian cancer populations.

Abstract：

:Inherited mutations in the BRCA1 gene are known to confer a predisposition to breast and ovarian cancer. We have first characterized 19 sequence variants in the BRCA1 gene during mutation screening by direct sequencing using DNA samples from breast/ovarian cancer patients or obligate carriers. The frequencies of these sequence variants were then compared with those found in control populations of women. Among the 10 sequence variants showing an estimated frequency of the less common allele above 0.05, Q/R356, L/P871, E/G1038, K/R1183 and S/G1613 result in a change of amino acids, 2201C/T, 2430T/C and 4427C/T are silent mutations and the two others, 4209-141C/A and 5272 + 66A/G, are intronic polymorphisms. These frequent polymorphisms, with the exception of Q/R356, were in complete or significant pairwise linkage disequilibrium as evaluated in our control populations. With one exception (L/P871), none of these variants had statistically significant (P < 0.05) differences in allele frequency between breast/ovarian cancer patients or obligate carriers and our control populations. Four rare sequence variants designated 710C-->T, D693N, R841W and S1040N were found in both unaffected and breast/ovarian cancer populations, while the missense mutations M1008I, E1219D, R1347G, T1561I and M1628V were detected only once in our patient population. When a functional test is available, it will be important to determine the consequence on the BRCA1 activity of these rare sequence variants and missense mutations.

journal_name

Hum Mol Genet

journal_title

Human molecular genetics

authors

Durocher F,Shattuck-Eidens D,McClure M,Labrie F,Skolnick MH,Goldgar DE,Simard J

doi

10.1093/hmg/5.6.835

subject

Has Abstract

pub_date

1996-06-01 00:00:00

pages

835-42

issue

6

eissn

0964-6906

issn

1460-2083

pii

5w0318

journal_volume

5

pub_type

杂志文章

相关文献

HUMAN MOLECULAR GENETICS文献大全
  • Different mechanisms cause imprinting defects at the IGF2/H19 locus in Beckwith-Wiedemann syndrome and Wilms' tumour.

    abstract：:The parent of origin-dependent expression of the IGF2 and H19 genes is controlled by the imprinting centre 1 (IC1) consisting in a methylation-sensitive chromatin insulator. Deletions removing part of IC1 have been found in patients affected by the overgrowth- and tumour-associated Beckwith-Wiedemann syndrome (BWS). T...

    journal_title：Human molecular genetics

    pub_type： 杂志文章

    doi：10.1093/hmg/ddn031

    authors： Cerrato F,Sparago A,Verde G,De Crescenzo A,Citro V,Cubellis MV,Rinaldi MM,Boccuto L,Neri G,Magnani C,D'Angelo P,Collini P,Perotti D,Sebastio G,Maher ER,Riccio A

    更新日期：2008-05-15 00:00:00

  • Isolation of a novel gene from the DiGeorge syndrome critical region with homology to Drosophila gdl and to human LAMC1 genes.

    abstract：:DiGeorge syndrome, and more widely the CATCH 22 syndrome, are associated with microdeletions in chromosomal region 22q11.2. A critical region of 500 kb has been delimited within which maps the breakpoint of a balanced translocation associated with mild CATCH 22 phenotypes. We report the isolation from this critical re...

    journal_title：Human molecular genetics

    pub_type： 杂志文章

    doi：10.1093/hmg/5.5.633

    authors： Demczuk S,Thomas G,Aurias A

    更新日期：1996-05-01 00:00:00

  • A mutation affecting polycystin-1 mediated heterotrimeric G-protein signaling causes PKD.

    abstract：:Autosomal dominant polycystic kidney disease (ADPKD) is characterized by the growth of renal cysts that ultimately destroy kidney function. Mutations in the PKD1 and PKD2 genes cause ADPKD. Their protein products, polycystin-1 (PC1) and polycystin-2 (PC2) have been proposed to form a calcium-permeable receptor-channel...

    journal_title：Human molecular genetics

    pub_type： 杂志文章

    doi：10.1093/hmg/ddy223

    authors： Parnell SC,Magenheimer BS,Maser RL,Pavlov TS,Havens MA,Hastings ML,Jackson SF,Ward CJ,Peterson KR,Staruschenko A,Calvet JP

    更新日期：2018-10-01 00:00:00

  • Disc1 regulates granule cell migration in the developing hippocampus.

    abstract：:Schizophrenia is a severely debilitating psychiatric disease that is hypothesized to have its roots in neurodevelopment. Although the precise neuropathology underlying schizophrenia has remained elusive, there are consistent reports of abnormalities in several brain areas. Chief among these is the hippocampus, an area...

    journal_title：Human molecular genetics

    pub_type： 杂志文章

    doi：10.1093/hmg/ddp266

    authors： Meyer KD,Morris JA

    更新日期：2009-09-01 00:00:00

  • Correction of ATM mutations in iPS cells from two ataxia-telangiectasia patients restores DNA damage and oxidative stress responses.

    abstract：:Patients with ataxia-telangiectasia (A-T) lack a functional ATM kinase protein and exhibit defective repair of DNA double-stranded breaks and response to oxidative stress. We show that CRISPR/Cas9-assisted gene correction combined with piggyBac (PB) transposon-mediated excision of the selection cassette enables seamle...

    journal_title：Human molecular genetics

    pub_type： 杂志文章

    doi：10.1093/hmg/ddaa023

    authors： Ovchinnikov DA,Withey SL,Leeson HC,Lei UW,Sundarrajan A,Junday K,Pewarchuk M,Yeo AJ,Kijas AW,Lavin MF,Wolvetang EJ

    更新日期：2020-04-15 00:00:00

  • An alpha-tectorin gene defect causes a newly identified autosomal recessive form of sensorineural pre-lingual non-syndromic deafness, DFNB21.

    abstract：:In our efforts to identify new loci responsible for non-syndromic autosomal recessive forms of deafness, DFNB loci, we have pursued the analysis of large consanguineous affected families living in geographically isolated areas. Here, we report on the study of a Lebanese family comprising nine members presenting with a...

    journal_title：Human molecular genetics

    pub_type： 杂志文章

    doi：10.1093/hmg/8.3.409

    authors： Mustapha M,Weil D,Chardenoux S,Elias S,El-Zir E,Beckmann JS,Loiselet J,Petit C

    更新日期：1999-03-01 00:00:00

  • Neuronal pentraxin 1 depletion delays neurodegeneration and extends life in Sandhoff disease mice.

    abstract：:GM2 gangliosidoses are a group of lysosomal storage disorders which include Sandhoff disease and Tay-Sachs disease. Dysregulation of glutamate receptors has been recently postulated in the pathology of Sandhoff disease. Glutamate receptor association with neuronal pentraxins 1 and 2, and the neuronal pentraxin recepto...

    journal_title：Human molecular genetics

    pub_type： 杂志文章

    doi：10.1093/hmg/ddw422

    authors： Hooper AWM,Alamilla JF,Venier RE,Gillespie DC,Igdoura SA

    更新日期：2017-02-15 00:00:00

  • Common and different genetic background for rheumatoid arthritis and coeliac disease.

    abstract：:Recent genome-wide association studies (GWAS) have revealed genetic risk factors in autoimmune and inflammatory disorders. Several of the associated genes and underlying pathways are shared by various autoimmune diseases. Rheumatoid arthritis (RA) and coeliac disease (CD) are two autoimmune disorders which have common...

    journal_title：Human molecular genetics

    pub_type： 杂志文章

    doi：10.1093/hmg/ddp365

    authors： Coenen MJ,Trynka G,Heskamp S,Franke B,van Diemen CC,Smolonska J,van Leeuwen M,Brouwer E,Boezen MH,Postma DS,Platteel M,Zanen P,Lammers JW,Groen HJ,Mali WP,Mulder CJ,Tack GJ,Verbeek WH,Wolters VM,Houwen RH,Mearin M

    更新日期：2009-11-01 00:00:00

  • 17-DMAG ameliorates polyglutamine-mediated motor neuron degeneration through well-preserved proteasome function in an SBMA model mouse.

    abstract：:The ubiquitin-proteasome system (UPS) is the principal protein degradation system that tags and targets short-lived proteins, as well as damaged or misfolded proteins, for destruction. In spinal and bulbar muscular atrophy (SBMA), the androgen receptor (AR), an Hsp90 client protein, is such a misfolded protein that te...

    journal_title：Human molecular genetics

    pub_type： 杂志文章

    doi：10.1093/hmg/ddn419

    authors： Tokui K,Adachi H,Waza M,Katsuno M,Minamiyama M,Doi H,Tanaka K,Hamazaki J,Murata S,Tanaka F,Sobue G

    更新日期：2009-03-01 00:00:00

  • Altered palmitoylation and neuropathological deficits in mice lacking HIP14.

    abstract：:Huntingtin interacting protein 14 (HIP14, ZDHHC17) is a huntingtin (HTT) interacting protein with palmitoyl transferase activity. In order to interrogate the function of Hip14, we generated mice with disruption in their Hip14 gene. Hip14-/- mice displayed behavioral, biochemical and neuropathological defects that are ...

    journal_title：Human molecular genetics

    pub_type： 杂志文章

    doi：10.1093/hmg/ddr308

    authors： Singaraja RR,Huang K,Sanders SS,Milnerwood AJ,Hines R,Lerch JP,Franciosi S,Drisdel RC,Vaid K,Young FB,Doty C,Wan J,Bissada N,Henkelman RM,Green WN,Davis NG,Raymond LA,Hayden MR

    更新日期：2011-10-15 00:00:00

  • P4HA1 mutations cause a unique congenital disorder of connective tissue involving tendon, bone, muscle and the eye.

    abstract：:Collagen prolyl 4-hydroxylases (C-P4Hs) play a central role in the formation and stabilization of the triple helical domain of collagens. P4HA1 encodes the catalytic α(I) subunit of the main C-P4H isoenzyme (C-P4H-I). We now report human bi-allelic P4HA1 mutations in a family with a congenital-onset disorder of connec...

    journal_title：Human molecular genetics

    pub_type： 杂志文章

    doi：10.1093/hmg/ddx110

    authors： Zou Y,Donkervoort S,Salo AM,Foley AR,Barnes AM,Hu Y,Makareeva E,Leach ME,Mohassel P,Dastgir J,Deardorff MA,Cohn RD,DiNonno WO,Malfait F,Lek M,Leikin S,Marini JC,Myllyharju J,Bönnemann CG

    更新日期：2017-06-15 00:00:00

  • Rapid chromosome identification by oligonucleotide-primed in situ DNA synthesis (PRINS).

    abstract：:We describe a method for rapid identification of chromosomes at metaphase, and quantification of chromosomes in interphase, by annealing oligonucleotide primers, derived from chromosome-specific subsets of repeated DNA families, to the DNA of cytological preparations, and enzymatic extension with the incorporation of ...

    journal_title：Human molecular genetics

    pub_type： 杂志文章

    doi：10.1093/hmg/3.6.931

    authors： Gosden J,Lawson D

    更新日期：1994-06-01 00:00:00

  • The fundamental and medical impacts of recent progress in research on hereditary hearing loss.

    abstract：:What would define real progress in the field of deafness research in fundamental and medical terms? In fundamental terms, progress would be measured by an improvement in our knowledge of the development and physiology of the ear. In medical terms, progress would lead to the division of the broad category of hearing de...

    journal_title：Human molecular genetics

    pub_type： 杂志文章,评审

    doi：10.1093/hmg/7.10.1589

    authors： Kalatzis V,Petit C

    更新日期：1998-01-01 00:00:00

  • Protecting genomic integrity during DNA replication: correlation between Werner's and Bloom's syndrome gene products and the MRE11 complex.

    abstract：:DNA replication is a critical step for cells because of the propensity of replication forks to stall, as a consequence either of endogenous DNA damage or of the propensity of repeated sequences to form tertiary structures, which can impede fork progression. Moreover, as a result of stalled replication fork processing,...

    journal_title：Human molecular genetics

    pub_type： 杂志文章,评审

    doi：10.1093/hmg/11.20.2447

    authors： Franchitto A,Pichierri P

    更新日期：2002-10-01 00:00:00

  • The apical ectodermal ridge of the mouse model of ectrodactyly Dlx5;Dlx6-/- shows altered stratification and cell polarity, which are restored by exogenous Wnt5a ligand.

    abstract：:The congenital malformation split hand/foot (SHFM) is characterized by missing central fingers and dysmorphology or fusion of the remaining ones. Type-1 SHFM is linked to deletions/rearrangements of the DLX5-DLX6 locus and point mutations in the DLX5 gene. The ectrodactyly phenotype is reproduced in mice by the double...

    journal_title：Human molecular genetics

    pub_type： 杂志文章

    doi：10.1093/hmg/ddv514

    authors： Conte D,Garaffo G,Lo Iacono N,Mantero S,Piccolo S,Cordenonsi M,Perez-Morga D,Orecchia V,Poli V,Merlo GR

    更新日期：2016-02-15 00:00:00

  • Gain-of-function haplotype in the epithelial calcium channel TRPV6 is a risk factor for renal calcium stone formation.

    abstract：:The rate-limiting step of dietary calcium absorption in the intestine requires the brush border calcium entry channel TRPV6. The TRPV6 gene was completely sequenced in 170 renal calcium stone patients. The frequency of an ancestral TRPV6 haplotype consisting of three non-synonymous polymorphisms (C157R, M378V, M681T) ...

    journal_title：Human molecular genetics

    pub_type： 杂志文章

    doi：10.1093/hmg/ddn048

    authors： Suzuki Y,Pasch A,Bonny O,Mohaupt MG,Hediger MA,Frey FJ

    更新日期：2008-06-01 00:00:00

  • Mitochondrial ATP synthase deficiency due to a mutation in the ATP5E gene for the F1 epsilon subunit.

    abstract：:F1Fo-ATP synthase is a key enzyme of mitochondrial energy provision producing most of cellular ATP. So far, mitochondrial diseases caused by isolated disorders of the ATP synthase have been shown to result from mutations in mtDNA genes for the subunits ATP6 and ATP8 or in nuclear genes encoding the biogenesis factors ...

    journal_title：Human molecular genetics

    pub_type： 杂志文章

    doi：10.1093/hmg/ddq254

    authors： Mayr JA,Havlícková V,Zimmermann F,Magler I,Kaplanová V,Jesina P,Pecinová A,Nusková H,Koch J,Sperl W,Houstek J

    更新日期：2010-09-01 00:00:00

  • Sensitivity of single-strand conformation polymorphism and heteroduplex method for mutation detection in the cystic fibrosis gene.

    abstract：:The gene responsible for cystic fibrosis (CF) contains 27 coding exons and more than 300 independent mutations have been identified. An efficient and optimized strategy is required to identify additional mutations and/or to screen patient samples for the presence of known mutations. We have tested several different co...

    journal_title：Human molecular genetics

    pub_type： 杂志文章

    doi：10.1093/hmg/3.5.801

    authors： Ravnik-Glavac M,Glavac D,Dean M

    更新日期：1994-05-01 00:00:00

  • Loss of cone cyclic nucleotide-gated channel leads to alterations in light response modulating system and cellular stress response pathways: a gene expression profiling study.

    abstract：:The cone photoreceptor cyclic nucleotide-gated (CNG) channel is essential for central and color vision and visual acuity. Mutations in the channel subunits CNGA3 and CNGB3 are associated with achromatopsia and cone dystrophy. We investigated the gene expression profiles in mouse retina with CNG channel deficiency usin...

    journal_title：Human molecular genetics

    pub_type： 杂志文章

    doi：10.1093/hmg/ddt245

    authors： Ma H,Thapa A,Morris LM,Michalakis S,Biel M,Frank MB,Bebak M,Ding XQ

    更新日期：2013-10-01 00:00:00

  • Structural features of normal and mutant human lysosomal glycoside hydrolases deduced from bioinformatics analysis.

    abstract：:Lysosomal storage diseases are due to inherited deficiencies in various enzymes involved in basic metabolic processes. As with other genetic diseases, accurate structure data for these enzymatic proteins should help in better understanding the molecular effects of mutations identified in patients with the correspondin...

    journal_title：Human molecular genetics

    pub_type： 杂志文章,评审

    doi：10.1093/hmg/9.6.967

    authors： Durand P,Fabrega S,Henrissat B,Mornon JP,Lehn P

    更新日期：2000-04-12 00:00:00

  • Chemical genetics unveils a key role of mitochondrial dynamics, cytochrome c release and IP3R activity in muscular dystrophy.

    abstract：:Duchenne muscular dystrophy (DMD) is a neuromuscular disease caused by mutations in the dystrophin gene. The subcellular mechanisms of DMD remain poorly understood and there is currently no curative treatment available. Using a Caenorhabditis elegans model for DMD as a pharmacologic and genetic tool, we found that cyc...

    journal_title：Human molecular genetics

    pub_type： 杂志文章

    doi：10.1093/hmg/ddt302

    authors： Giacomotto J,Brouilly N,Walter L,Mariol MC,Berger J,Ségalat L,Becker TS,Currie PD,Gieseler K

    更新日期：2013-11-15 00:00:00

  • Lipid-enriched diet rescues lethality and slows down progression in a murine model of VCP-associated disease.

    abstract：:Valosin-containing protein (VCP)-associated disease caused by mutations in the VCP gene includes combinations of a phenotypically heterogeneous group of disorders such as hereditary inclusion body myopathy, Paget's disease of bone, frontotemporal dementia and amyotrophic lateral sclerosis. Currently, there are no effe...

    journal_title：Human molecular genetics

    pub_type： 杂志文章

    doi：10.1093/hmg/ddt523

    authors： Llewellyn KJ,Nalbandian A,Jung KM,Nguyen C,Avanesian A,Mozaffar T,Piomelli D,Kimonis VE

    更新日期：2014-03-01 00:00:00

  • Genome-wide association analysis of 350 000 Caucasians from the UK Biobank identifies novel loci for asthma, hay fever and eczema.

    abstract：:Even though heritability estimates suggest that the risk of asthma, hay fever and eczema is largely due to genetic factors, previous studies have not explained a large part of the genetics behind these diseases. In this genome-wide association study, we include 346 545 Caucasians from the UK Biobank to identify novel ...

    journal_title：Human molecular genetics

    pub_type： 杂志文章

    doi：10.1093/hmg/ddz175

    authors： Johansson Å,Rask-Andersen M,Karlsson T,Ek WE

    更新日期：2019-12-01 00:00:00

  • Histone acetylation dependent allelic expression imbalance of BAPX1 in patients with the oculo-auriculo-vertebral spectrum.

    abstract：:The oculo-auriculo-vertebral spectrum (OAVS) (OMIM % 164210) is a common developmental disorder characterized by hemifacial microsomia, epibulbar tumours, ear malformation and vertebral anomalies. Although rare familial cases suggest that OAVS has a genetic basis, no genetic defect has been identified so far. In a pat...

    journal_title：Human molecular genetics

    pub_type： 杂志文章

    doi：10.1093/hmg/ddi474

    authors： Fischer S,Lüdecke HJ,Wieczorek D,Böhringer S,Gillessen-Kaesbach G,Horsthemke B

    更新日期：2006-02-15 00:00:00

  • Deficiency of α-actinin-3 is associated with increased susceptibility to contraction-induced damage and skeletal muscle remodeling.

    abstract：:Sarcomeric α-actinins (α-actinin-2 and -3) are a major component of the Z-disk in skeletal muscle, where they crosslink actin and other structural proteins to maintain an ordered myofibrillar array. Homozygosity for the common null polymorphism (R577X) in ACTN3 results in the absence of fast fiber-specific α-actinin-3...

    journal_title：Human molecular genetics

    pub_type： 杂志文章

    doi：10.1093/hmg/ddr196

    authors： Seto JT,Lek M,Quinlan KG,Houweling PJ,Zheng XF,Garton F,MacArthur DG,Raftery JM,Garvey SM,Hauser MA,Yang N,Head SI,North KN

    更新日期：2011-08-01 00:00:00

  • Regulation of retinal progenitor expansion by Frizzled receptors: implications for microphthalmia and retinal coloboma.

    abstract：:Nineteen Wnt ligands and 10 Frizzled (Fz) receptors mediate multiple distinct cellular events during neuronal development. However, their precise roles in cell-type specification and organogenesis are poorly delineated because of overlapping functions and expression profiles. Here, we have explored the role of two clo...

    journal_title：Human molecular genetics

    pub_type： 杂志文章

    doi：10.1093/hmg/ddr616

    authors： Liu C,Bakeri H,Li T,Swaroop A

    更新日期：2012-04-15 00:00:00

  • GM130 gain-of-function induces cell pathology in a model of lysosomal storage disease.

    abstract：:Cell pathology in lysosomal storage diseases is characterized by the formation of distended vacuoles with characteristics of lysosomes. Our previous studies in mucopolysaccharidosis type IIIB (MPSIIIB), a disease in which a genetic defect induces the accumulation of undigested heparan sulfate (HS) fragments, led to th...

    journal_title：Human molecular genetics

    pub_type： 杂志文章

    doi：10.1093/hmg/ddr584

    authors： Roy E,Bruyère J,Flamant P,Bigou S,Ausseil J,Vitry S,Heard JM

    更新日期：2012-04-01 00:00:00

  • Urogenital development in Pallister-Hall syndrome is disrupted in a cell-lineage-specific manner by constitutive expression of GLI3 repressor.

    abstract：:Pallister-Hall syndrome (PHS) is a rare disorder caused by mutations in GLI3 that produce a transcriptional repressor (GLI3R). Individuals with PHS present with a variably penetrant variety of urogenital system malformations, including renal aplasia or hypoplasia, hydroureter, hydronephrosis or a common urogenital sin...

    journal_title：Human molecular genetics

    pub_type： 杂志文章

    doi：10.1093/hmg/ddv483

    authors： Blake J,Hu D,Cain JE,Rosenblum ND

    更新日期：2016-02-01 00:00:00

  • Abnormal messenger RNA expression and a missense mutation in patients with X-linked adrenoleukodystrophy.

    abstract：:A candidate gene for X-linked adrenoleukodystrophy (ALD) has been identified via positional cloning strategies. We now report messenger RNA expression in fibroblasts from 6 unrelated ALD patients. Four patients lacked the normal 4.2 kb transcript, three of them having deletions of the ALD gene. A fifth patient with a ...

    journal_title：Human molecular genetics

    pub_type： 杂志文章

    doi：10.1093/hmg/2.11.1949

    authors： Cartier N,Sarde CO,Douar AM,Mosser J,Mandel JL,Aubourg P

    更新日期：1993-11-01 00:00:00

  • Cytoglobin has bimodal: tumour suppressor and oncogene functions in lung cancer cell lines.

    abstract：:Cytoglobin (CYGB) is frequently downregulated in many types of human malignancies, and its exogenous overexpression reduces proliferation of cancer cells. Despite its implied tumour suppressor (TSG) functions, its exact role in carcinogenesis remains unclear as CYGB upregulation is also associated with tumour hypoxia ...

    journal_title：Human molecular genetics

    pub_type： 杂志文章

    doi：10.1093/hmg/ddt174

    authors： Oleksiewicz U,Liloglou T,Tasopoulou KM,Daskoulidou N,Bryan J,Gosney JR,Field JK,Xinarianos G

    更新日期：2013-08-15 00:00:00