Abstract:
BACKGROUND:The birth year-dependent onset of breast cancer (BC) in BRCA1/2 mutation carriers suggests a risk-modifying role for reproductive and life style factors. We therefore examined possible associations between these factors and age at diagnosis. METHODS:Cox regression analysis and log-Rank testing were used to estimate the effect of potential life style factors on the onset of BC in 197 BRCA mutation carriers. RESULTS:Nulliparous BRCA mutation carriers developed BC earlier than those who had delivered (36.4 vs. 40.9; P = 0.001). Similarly, smokers and women who had used oral contraceptives experienced an earlier cancer onset (39.0 vs. 41.4; P = 0.05 and 39.3 vs. 44.9; P = 0.0001, respectively). In multivariate analysis, oral contraceptive use (HR: 1.7; P = 0.006) and birth cohort (< vs. ≥1965 HR: 4.5; P = 0.001) were associated with an earlier BC onset, while previous pregnancies led to a delay (HR: 0.2; P = 0.04). Mutation carriers born ≥1965 were less likely to have experienced pregnancies and more likely to have used oral contraceptives, and consequently developed BC at an earlier age (median age: 42 vs. 58; P < 0.0001 log-Rank test). CONCLUSION:We here demonstrate that in BRCA1/2 mutation carriers the birth cohort-associated differences in the onset of BC are profound and influenced by reproductive factors.
journal_name
Mol Genet Genomic Medjournal_title
Molecular genetics & genomic medicineauthors
Rieder V,Salama M,Glöckner L,Muhr D,Berger A,Tea MK,Pfeiler G,Rappaport-Fuerhauser C,Gschwantler-Kaulich D,Weingartshofer S,Singer CFdoi
10.1002/mgg3.191subject
Has Abstractpub_date
2015-12-10 00:00:00pages
172-7issue
2issn
2324-9269pii
MGG3191journal_volume
4pub_type
杂志文章abstract:BACKGROUND:Hainan Island, located in the South China Sea and separated from the Leizhou Peninsula by Qiongzhou Strait, is the second largest island after Taiwan in China. With the expansion of Han Chinese and the gradual formation of "South Hlai and North Han", nowadays, Hainan Hlai is the second largest population aft...
journal_title:Molecular genetics & genomic medicine
pub_type: 杂志文章
doi:10.1002/mgg3.1462
更新日期:2020-10-01 00:00:00
abstract:BACKGROUND:Genetic association studies for gastroschisis have highlighted several candidate variants. However, genetic basis in gastroschisis from noninvestigated heritable factors could provide new insights into the human biology for this birth defect. We aim to identify novel gastroschisis susceptibility variants by ...
journal_title:Molecular genetics & genomic medicine
pub_type: 杂志文章
doi:10.1002/mgg3.1176
更新日期:2020-05-01 00:00:00
abstract:BACKGROUND:With the implementation of a research project providing whole genome sequencing (WGS) to all pediatric cancer patients in Denmark (2016-2019), we sought to investigate healthcare professionals' views on WGS as it was actively being implemented in pediatric oncology. METHODS:Semistructured interviews were ca...
journal_title:Molecular genetics & genomic medicine
pub_type: 杂志文章
doi:10.1002/mgg3.1276
更新日期:2020-08-01 00:00:00
abstract:BACKGROUND:Congenital adrenal hyperplasia (CAH) (OMIM #201910) is a complex disease most often caused by pathogenic variant of the CYP21A2 gene. We have designed an efficient multistep approach to diagnose and classify CAH cases due to CYP21A2 variant and to study the genotype-phenotype relationship. METHODS:A large c...
journal_title:Molecular genetics & genomic medicine
pub_type: 杂志文章
doi:10.1002/mgg3.623
更新日期:2019-05-01 00:00:00
abstract:BACKGROUND:Insulin resistance (IR), known to reduce the response to insulin action, develops with obesity leading to type 2 diabetes mellitus (T2DM). The PC-1 gene has been associated with dyslipidemia, polycystic ovarian disease and T2DM in different regions of the world. The objective of the present study was to inve...
journal_title:Molecular genetics & genomic medicine
pub_type: 杂志文章
doi:10.1002/mgg3.775
更新日期:2019-08-01 00:00:00
abstract:BACKGROUND:Joubert syndrome (JS, OMIM: 213300) is a recessive developmental disorder characterized by cerebellar vermis hypoplasia and a distinctive mid-hindbrain malformation called the "molar tooth sign" on axial magnetic resonance imaging. To date, more than 35 ciliary genes have been identified as the causative gen...
journal_title:Molecular genetics & genomic medicine
pub_type: 杂志文章
doi:10.1002/mgg3.1004
更新日期:2019-12-01 00:00:00
abstract:BACKGROUND:The ECE1 gene polymorphisms have been studied as a candidate gene in essential hypertension, but no consensus has been reached. To systematically explore their possible association, a case-control study was conducted. METHODS:This study included 398 hypertensive subjects and 596 healthy volunteers as contro...
journal_title:Molecular genetics & genomic medicine
pub_type: 杂志文章
doi:10.1002/mgg3.1188
更新日期:2020-04-01 00:00:00
abstract::Mutation-induced activation of splice sites in intronic repetitive sequences has contributed significantly to the evolution of exon-intron structure and genetic disease. Such events have been associated with mutations within transposable elements, most frequently in mutation hot-spots of Alus. Here, we report a case o...
journal_title:Molecular genetics & genomic medicine
pub_type: 杂志文章
doi:10.1002/mgg3.89
更新日期:2014-09-01 00:00:00
abstract:BACKGROUND:Preeclampsia can lead to adverse maternal and perinatal outcomes. There are few studies on the genetic factors associated with preeclampsia in Africa in general and in Sudan in specific. METHODS:A case-control study (60 women in each arm) was conducted at Saad Abualila Hospital in Khartoum, Sudan, from Marc...
journal_title:Molecular genetics & genomic medicine
pub_type: 杂志文章
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journal_title:Molecular genetics & genomic medicine
pub_type: 杂志文章
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abstract:BACKGROUND:A family with skeletal and craniofacial anomalies is presented. Whole-exome sequencing (WES) analysis indicated a diagnosis of Larsen syndrome, although their clinical presentation does not include the hallmark joint dislocations typically observed in Larsen syndrome. METHODS:Patient consent for the sharing...
journal_title:Molecular genetics & genomic medicine
pub_type: 杂志文章
doi:10.1002/mgg3.648
更新日期:2019-05-01 00:00:00
abstract:BACKGROUND:Osteogenesis imperfecta (OI) is a rare group of disorders characterized by increased susceptibility to fractures due to genetically determined bone fragility. About 90% of cases are due to mutations in COL1A1 (17q21.33) or COL1A2 (7q21.3) resulting in quantitative or qualitative defects in type I collagen, a...
journal_title:Molecular genetics & genomic medicine
pub_type: 杂志文章
doi:10.1002/mgg3.1241
更新日期:2020-06-01 00:00:00
abstract:BACKGROUND:Pituitary adenomas (PAs) are one of the most common intracranial tumors; approximately half of PAs are prolactin (PRL)-secreting PAs (prolactinomas). The genetic alterations prevalent in prolactinomas are unknown. METHODS:Here, we present a patient with an extremely aggressive and giant prolactinoma accompa...
journal_title:Molecular genetics & genomic medicine
pub_type: 杂志文章
doi:10.1002/mgg3.1022
更新日期:2019-12-01 00:00:00
abstract:BACKGROUND:Congenital scoliosis (CS) is defined as a lateral curvature of the spine due to the vertebral malformations and has an incidence of 0.5-1/1,000 births. We previously examined TBX6 in Japanese CS patients and revealed that approximately 10% of CS was caused by TBX6 mutations. However, the genetic cause of rem...
journal_title:Molecular genetics & genomic medicine
pub_type: 杂志文章
doi:10.1002/mgg3.466
更新日期:2018-11-01 00:00:00
abstract:BACKGROUND:Recently hyperphenylalaninemia (HPA) caused by variants in DNAJC12 was reported and this suggested a new strategy for diagnosis. But DNAJC12-associated HPA is a rare in Chinese population so far. METHODS:The clinical information and blood samples from the patient and his family members were collected and an...
journal_title:Molecular genetics & genomic medicine
pub_type: 杂志文章
doi:10.1002/mgg3.1303
更新日期:2020-08-01 00:00:00
abstract::Peruvians currently preserve in their DNA the history of 2.5 million years of human evolution and 150,000 years of migration from Africa to Peru or the Americas. The development of Genetics and Genomics in the clinical and academic field is shown in this review. ...
journal_title:Molecular genetics & genomic medicine
pub_type: 杂志文章,评审
doi:10.1002/mgg3.533
更新日期:2018-11-01 00:00:00
abstract:BACKGROUND:Plasma concentrations of antiretrovirals (ARVs) regimens have considerably varied in individuals of human immunodeficiency virus (HIV) because of variations in the expression of drug-metabolizing and transporter genes. Transporter genes play an important role in the disposition of drugs. Polymorphism in tran...
journal_title:Molecular genetics & genomic medicine
pub_type: 杂志文章
doi:10.1002/mgg3.1124
更新日期:2020-06-01 00:00:00
abstract::The presence of body wall closing defects (abdominoschisis and thoracoabdominoschisis) in combination with other congenital malformations was studied in the pig (Sus scrofa domesticus). After clinical examination and literature review, body wall defects with multiple congenital anomalies in eight pigs were described, ...
journal_title:Molecular genetics & genomic medicine
pub_type: 杂志文章
doi:10.1002/mgg3.1227
更新日期:2020-06-01 00:00:00
abstract:BACKGROUND:Opitz syndrome (OS) is a genetic disorder that affects mainly the development of midline structures, including the craniofacial region, embryonic heart, and urogenital system. The manifestations of X-linked OS are believed to be results of a malfunctioned gene, MID1, whose product has been shown to have ubiq...
journal_title:Molecular genetics & genomic medicine
pub_type: 杂志文章
doi:10.1002/mgg3.183
更新日期:2015-12-12 00:00:00
abstract:BACKGROUND:Bicuspid aortic valve (BAV) is the most common congenital heart defect with a prevalence of 1%-2% in the general population. NOTCH1, SMAD6, and GATA5 are associated with BAV in humans, but few cases have been reported that did not involve NOTCH1. Here, we identified novel in-frame variants in SMAD6 (c.1168_1...
journal_title:Molecular genetics & genomic medicine
pub_type: 杂志文章
doi:10.1002/mgg3.620
更新日期:2019-05-01 00:00:00
abstract::Definitive diagnosis of primary hyperoxaluria (PH) currently utilizes sequential Sanger sequencing of the AGXT, GRPHR, and HOGA1 genes but efficacy is unproven. This analysis is time-consuming, relatively expensive, and delays in diagnosis and inappropriate treatment can occur if not pursued early in the diagnostic wo...
journal_title:Molecular genetics & genomic medicine
pub_type: 杂志文章
doi:10.1002/mgg3.118
更新日期:2015-01-01 00:00:00
abstract:BACKGROUND:The deletion of the distal 7q region is a rare chromosomal syndrome characterized by wide phenotypic manifestations including growth and psychomotor delay, facial dysmorphisms, and genitourinary malformations. METHODS:We describe a 6-year-old child with a 12-Mb deletion of the region 7q35q36.3. RESULTS:Amo...
journal_title:Molecular genetics & genomic medicine
pub_type: 杂志文章
doi:10.1002/mgg3.855
更新日期:2019-09-01 00:00:00
abstract:BACKGROUND:This study investigated the effects of haplotypes T-G and C-A derived from NG_012836.1:g.4160T>C and NG_012836.1:g.4326G>A on protein expression levels in vitro and identified the functional sequence in the regulatory region of the GABRB3 gene linked to possible associations with schizophrenia. METHODS:Reco...
journal_title:Molecular genetics & genomic medicine
pub_type: 杂志文章
doi:10.1002/mgg3.652
更新日期:2019-05-01 00:00:00
abstract:BACKGROUND:Panel-based targeted exome sequencing was used to analyze the genetic and clinical findings of targeted genes in a cohort of northeast Chinese with retinitis pigmentosa. METHODS:A total of 87 subjects, comprising 23 probands and their family members (total patients: 32) with confirmed retinitis pigmentosa w...
journal_title:Molecular genetics & genomic medicine
pub_type: 杂志文章
doi:10.1002/mgg3.1184
更新日期:2020-04-01 00:00:00
abstract:BACKGROUND:Ankylosing spondylitis (AS) is the second most common cause of inflammatory arthritis worldwide affecting the axial skeleton. Single nucleotide polymorphisms (SNPs) of matrix metalloproteinase-3 (MMP3) in the development of AS has few been investigated in Chinese population. METHODS:A total of 362 patients ...
journal_title:Molecular genetics & genomic medicine
pub_type: 杂志文章
doi:10.1002/mgg3.752
更新日期:2019-07-01 00:00:00
abstract:BACKGROUND:To explore survival, causes of death, and the prevalence of cardiovascular events in a Norwegian Marfan syndrome (MFS) cohort. MFS is a heritable connective tissue disorder associated with reduced life expectancy-primarily due to aortic pathology. METHODS:A follow-up study of 84 MFS adults, initially invest...
journal_title:Molecular genetics & genomic medicine
pub_type: 杂志文章
doi:10.1002/mgg3.489
更新日期:2018-11-01 00:00:00
abstract:BACKGROUND:Spinal neurofibromatosis (SNF) is a related form of Neurofibromatosis type 1 (NF1) with a low incidence. Here, we report a SNF patient with NF1 (OMIM *613113) mutation in a classic NF1 family to enrich the case data. METHODS:We presented the clinical data of a 27-year-old female suffered from SNF. Two NF1 i...
journal_title:Molecular genetics & genomic medicine
pub_type: 杂志文章
doi:10.1002/mgg3.1035
更新日期:2020-01-01 00:00:00
abstract:BACKGROUND:General practitioners (GPs) have an increasing role in referring patients with putative mutation in BRCA1/2 genes for genetics consultation and for long-term follow-up of mutation carriers. METHODS:We compared the expectations of the GPs' role according to BRCA1/2 mutation carriers and to GPs themselves. R...
journal_title:Molecular genetics & genomic medicine
pub_type: 临床试验,杂志文章
doi:10.1002/mgg3.464
更新日期:2018-11-01 00:00:00
abstract:BACKGROUND:Isomerism or heterotaxy syndrome is the loss of normal asymmetry of the internal thoraco-abdominal organs in the left-right axis and is associated with cardiovascular malformations. Mutations within DNAH11 can be associated with primary ciliary dyskinesia and heterotaxy syndromes. METHODS:We report a family...
journal_title:Molecular genetics & genomic medicine
pub_type: 杂志文章
doi:10.1002/mgg3.1358
更新日期:2020-09-01 00:00:00
abstract:BACKGROUND:Very recently, compound heterozygous loss-of-function mutations in TELO2 were shown to underlie the newly-described You-Hoover-Fong syndrome. TELO2 forms part of the co-chaperone triple T complex (TTT complex), which plays an important role in the maturation and stabilization of the phosphatidylinositol 3-ki...
journal_title:Molecular genetics & genomic medicine
pub_type: 杂志文章
doi:10.1002/mgg3.287
更新日期:2017-07-28 00:00:00