Abstract:
:Approximately 5%-10% of breast cancers are due to genetic predisposition caused by germline mutations; the most commonly tested genes are BRCA1 and BRCA2 mutations. Some mutations are unique to one family and others are recurrent; the spectrum of BRCA1/BRCA2 mutations varies depending on the geographical origins, populations or ethnic groups. In this review, we compiled data from 11 participating Asian countries (Bangladesh, Mainland China, Hong Kong SAR, Indonesia, Japan, Korea, Malaysia, Philippines, Singapore, Thailand and Vietnam), and from ethnic Asians residing in Canada and the USA. We have additionally conducted a literature review to include other Asian countries mainly in Central and Western Asia. We present the current pathogenic mutation spectrum of BRCA1/BRCA2 genes in patients with breast cancer in various Asian populations. Understanding BRCA1/BRCA2 mutations in Asians will help provide better risk assessment and clinical management of breast cancer.
journal_name
J Med Genetjournal_title
Journal of medical geneticsauthors
Kwong A,Shin VY,Ho JC,Kang E,Nakamura S,Teo SH,Lee AS,Sng JH,Ginsburg OM,Kurian AW,Weitzel JN,Siu MT,Law FB,Chan TL,Narod SA,Ford JM,Ma ES,Kim SWdoi
10.1136/jmedgenet-2015-103132subject
Has Abstractpub_date
2016-01-01 00:00:00pages
15-23issue
1eissn
0022-2593issn
1468-6244pii
jmedgenet-2015-103132journal_volume
53pub_type
杂志文章,评审abstract::Hereditary non-polyposis colon cancer (HNPCC) is a heterogeneous group of tumour predisposition syndromes caused by germline mutations in at least four different mismatch repair genes. HNPCC patients are prone to the development of carcinomas of the intestinal tract and other specific sites. Identification of presumpt...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:
更新日期:1999-12-01 00:00:00
abstract::Seven patients with congenital cutis laxa are presented. The associated features include developmental delay, joint laxity, wide anterior fontanelle, growth retardation, dental caries, and osteopenia. The heterogeneity and inheritance of congenital cutis laxa are discussed. This particular syndrome appears distinct an...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmg.24.9.556
更新日期:1987-09-01 00:00:00
abstract::A Newfoundland kindred in which ocular albinism and deutan colour blindness are segregating provides strong evidence against the loci for these two X-borne characters being within direct measurable distance of each other. ...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmg.13.4.319
更新日期:1976-08-01 00:00:00
abstract:BACKGROUND:Infertility affects approximately 15% of couples worldwide with male infertility being responsible for approximately 50% of cases. Although accumulating evidence demonstrates the critical role of the X chromosome in spermatogenesis during the last few decades, the expression patterns and potential impact of ...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmedgenet-2019-106598
更新日期:2021-01-01 00:00:00
abstract::X linked hypohidrotic ectodermal dysplasia (XHED) affects many epithelial functions, including sweat gland formation. Female carriers who manifest XHED may have defective dentition or a patchy distribution of sweating or both, as determined by starch and iodine sweat testing. Such sweat testing can be useful in assign...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmg.28.5.330
更新日期:1991-05-01 00:00:00
abstract::Despite increased expenditure, productivity of the pharmaceutical industry has decreased and currently 90% of developed molecules entering phase II and phase III clinical trials fail to gain regulatory approval. Most of these failures are due to lack of therapeutic efficacy rather than lack of safety, suggesting that ...
journal_title:Journal of medical genetics
pub_type: 杂志文章,评审
doi:10.1136/jmedgenet-2014-102438
更新日期:2015-02-01 00:00:00
abstract:BACKGROUND:Consensus clinical diagnostic criteria for neurofibromatosis type I (NF1) include café-au-lait macules and skinfold freckling. The former are frequently the earliest manifestation of NF1, and as such are of particular significance when assessing young children at risk of the condition. A phenotype of predomi...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmedgenet-2013-101648
更新日期:2013-09-01 00:00:00
abstract:BACKGROUND:Truncus arteriosus (TA) is characterised by failure of septation of the outflow tract into aortic and pulmonary trunks and is associated with high morbidity and mortality. Although ranked among the least common congenital heart defects, TA provides an excellent model for the role of individual genes in cardi...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmedgenet-2015-102992
更新日期:2015-05-01 00:00:00
abstract::Cultivated cells obtained by amniocentesis for antenatal diagnosis were examined for the presence of keratin filaments by immunofluorescent staining techniques. In primary cultures, cells in fibroblast type colonies do not possess keratin filaments whereas cells in epithelial type colonies show positive staining of ke...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmg.19.6.433
更新日期:1982-12-01 00:00:00
abstract::Results of genealogical, DNA, and clinical findings in 41 families with 235 patients affected with myotonic dystrophy (DM) led to the following observations. (1) The relative proportion of affected patients among blacks is apparently lower than among whites or orientals. (2) A significant excess of males was observed....
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmg.32.1.14
更新日期:1995-01-01 00:00:00
abstract::This report presents the detection of a heterozygous deletion at chromosome 12q14 in three unrelated patients with a similar phenotype consisting of mild mental retardation, failure to thrive in infancy, proportionate short stature and osteopoikilosis as the most characteristic features. In each case, this interstitia...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmg.2006.047860
更新日期:2007-04-01 00:00:00
abstract::Autosomal dominant sacral agenesis is characterised by a partial agenesis of the sacrum typically involving sacral vertebrae S2-S5 only. Associated features include anorectal malformation, a presacral mass, and urogenital malformation. Together, these features have been defined as the Currarino syndrome. Recently, HLX...
journal_title:Journal of medical genetics
pub_type: 杂志文章,评审
doi:10.1136/jmg.37.8.561
更新日期:2000-08-01 00:00:00
abstract::The phenotypic and quantitative relationship of red cell acid phosphatase with haemoglobin, haptoglobin, and G6PD phenotypes was investigated in three populations in the Sudan and one population in Nilgiris, India. No significant consistent association of red cell acid phosphatase phenotypes was observed with these po...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmg.18.4.271
更新日期:1981-08-01 00:00:00
abstract::A rapid PCR based assay was used to ascertain the presence of maternal cell contamination (MCC) in amniotic fluid cell cultures and to exclude MCC in cases where cytogenetic analysis was possible only from one primary cell culture. Six 6-carboxyfluorescein (FAM) and three 6-carboxyfluorescein hexachloride (HEX) labell...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmg.32.1.61
更新日期:1995-01-01 00:00:00
abstract:BACKGROUND:Autosomal recessive hereditary spastic paraplegias (AR-HSP) constitute a heterogeneous group of neurodegenerative diseases involving pyramidal tracts dysfunction. The genes responsible for many types of AR-HSPs remain unknown. We attempted to identify the gene responsible for AR-HSP with optic atrophy and ne...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmedgenet-2012-101212
更新日期:2012-12-01 00:00:00
abstract::Chromosome analysis of an infant with characteristic features of trisomy 18 is presented. The chromosome complement contained a modal count of 47 but there was only one No. 18. In addition, there were two metacentric chromosomes of different sizes. The two metacentric chromosomes were identified by G- and C-banding to...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmg.15.1.73
更新日期:1978-02-01 00:00:00
abstract::Previous linkage studies in tuberous sclerosis have implicated three disease determining loci at 9q, 11q, and 12q. We have collated phenotypic and genotypic data on 1622 members of 128 families with tuberous sclerosis in order to evaluate simultaneously the evidence for these putative loci. Affection status in the fam...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmg.29.12.861
更新日期:1992-12-01 00:00:00
abstract::We describe a molecular analysis of 184 cystic fibrosis (CF) families in Wales. To determine accurate frequency data for the CF mutations in the Welsh population, families with at least three Welsh grandparents were strictly regarded as Welsh. Of these 74 families, we have identified approximately 90% of mutations cau...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmg.29.9.642
更新日期:1992-09-01 00:00:00
abstract:BACKGROUND:Heart-hand syndromes are a heterogeneous group of genetic disorders characterised by the association of congenital cardiac disease and limb deformities. Laminopathies are a group of diseases caused by mutations in the LMNA gene encoding A-type lamins. RESULTS:We report a new LMNA mutation (c.1609-12T>G, IVS...
journal_title:Journal of medical genetics
pub_type: 信件
doi:10.1136/jmg.2008.060020
更新日期:2008-10-01 00:00:00
abstract::The features of a baby with lethal perinatal osteogenesis imperfecta (OI-II), resulting from the substitution of tryptophan 94 by cysteine in the carboxyl-terminal propeptide of pro alpha 1 (I) chains of type I procollagen, were studied. The limbs and torso were of normal length, shape, and proportion. Similarly, all ...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmg.33.11.965
更新日期:1996-11-01 00:00:00
abstract::Favism is a severe, acute haemolytic anaemia which occurs in about 20% of G6PD deficient subjects after ingestion of fava beans. Since not all G6PD deficient subjects are sensitive to fava beans, the possibility has been suggested that extra erythrocytic factors may play an important role in the susceptibility to haem...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmg.21.4.278
更新日期:1984-08-01 00:00:00
abstract:PURPOSE:Previous reports cite high costs of clinical cancer genetic testing as main barriers to patient's willingness to test. We report findings of a pilot study that evaluates how different subsidy schemes impact genetic testing uptake and total cost of cancer management. METHODS:We included all patients who attende...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmedgenet-2016-104302
更新日期:2017-04-01 00:00:00
abstract::The Smith-Lemli-Opitz syndrome (SLOS) is one of the archetypical multiple congenital malformation syndromes. The recent discovery of the biochemical cause of SLOS and the subsequent redefinition of SLOS as an inborn error of cholesterol metabolism have led to important new treatment possibilities for affected patients...
journal_title:Journal of medical genetics
pub_type: 杂志文章,评审
doi:10.1136/jmg.37.5.321
更新日期:2000-05-01 00:00:00
abstract::Mucopolysaccharidosis Type I (Hurler's syndrome) was diagnosed in an 18 week old fetus of a woman with 1 affected child by direct assay of glycosaminoglycans in amniotic fluid. Subsequently the fetus was aborted by hysterotomy and diagnosis was confirmed by analyzing glycosaminoglycans in fetal liver, electron microg...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmg.10.2.144
更新日期:1973-06-01 00:00:00
abstract::Several mutations in the extracellular matrix protein matrilin-3 cause a heterogeneous disease spectrum affecting skeletal tissues. We introduced three disease causing point mutations leading to single amino acid exchanges (R116W, T298M, C299S) in matrilin-3 and expressed the corresponding proteins in primary articula...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmg.2004.029462
更新日期:2005-10-01 00:00:00
abstract:BACKGROUND:Anticonvulsants taken in pregnancy are associated with an increased risk of malformations and developmental delay in the children. To evaluate the pattern of abnormalities associated with prenatal anticonvulsant exposure further, we undertook a clinical study of 57 children with fetal anticonvulsant syndrome...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmg.37.7.489
更新日期:2000-07-01 00:00:00
abstract::The 64Cu incorporation into uncloned fibroblast cultures from 16 Menkes disease mothers and 19 first and second degree female relatives was examined. The mean incorporation for the Menkes disease mothers (36.2 +/- 3.6 SEM) differed significantly from that of 25 normal subjects (21.7 +/- 0.9 SEM) suggesting the presenc...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmg.17.4.257
更新日期:1980-08-01 00:00:00
abstract:BACKGROUND:The SCN8A gene on chromosome 12q13 encodes the voltage gated sodium channel Na(v)1.6, which is widely expressed in neurons of the CNS and PNS. Mutations in the mouse ortholog of SCN8A result in ataxia and other movement disorders. METHODS:We screened the 26 coding exons of SCN8A in 151 patients with inherit...
journal_title:Journal of medical genetics
pub_type: 信件
doi:10.1136/jmg.2005.035667
更新日期:2006-06-01 00:00:00
abstract::In 1986, a population study of school children in the city of Coventry gave an overall prevalence in males and females for fragile X syndrome of 1/952. The 29 children diagnosed as having fragile X syndrome in this study have been re-evaluated with molecular diagnostic techniques. Eighteen of the original 29 children ...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmg.34.1.1
更新日期:1997-01-01 00:00:00
abstract::A case of true hermaphroditism is reported in which a 46,XY karyotype was associated with a testis and an ovotestis. The dual presence of a Fallopian tube and a vas deferens on the side of the ovotestis is documented as a previously unreported finding. ...
journal_title:Journal of medical genetics
pub_type: 杂志文章
doi:10.1136/jmg.25.3.206
更新日期:1988-03-01 00:00:00