Analysis of 5382insC (BRCA1) and 6174delT (BRCA2) mutations in 382 healthy Chilean women with a family history of breast cancer.

Abstract:

:Breast cancer is the most common malignancy among women. Chilean studies reveal that this cancer presents the third highest mortality rate. A family history of breast cancer is one of the major risk factors for the development of this disease. BRCA1 and BRCA2 are the two main hereditary breast cancer susceptibility genes, and mutations in these genes are related to inherited breast cancer. In specific populations only some mutations have been found to be associated with susceptibility. The purpose of this study was to establish the frequency of 5382insC (BRCA1) and 6174delT (BRCA2) germline mutations in 382 healthy Chilean women with at least two relatives affected with breast cancer and in probands and their relatives from 8 high risk families for breast cancer, using mismatch PCR assay. The results obtained showed that 5382insC and 6174delT mutations were not found in either of the groups studied. The ethnic origin of the contemporary Chilean population and the data reported in the literature suggest that these mutations may be absent or have a very low frequency in this population.. This genetic study is part of a breast cancer screening program that also includes annual mammography and clinical breast examination over a five-year period. Strategies to reduce morbidity and mortality associated with breast cancer lie in early detection in women with genetic risk.

journal_name

Biol Res

journal_title

Biological research

authors

Jara L,Ampuero S,Seccia L,Bustamante M,Blanco R,Ojeda JM

doi

10.4067/s0716-97602002000100011

keywords:

subject

Has Abstract

pub_date

2002-01-01 00:00:00

pages

85-93

issue

1

eissn

0716-9760

issn

0717-6287

journal_volume

35

pub_type

杂志文章
  • Social stimuli cause changes of plasma oxytocin and behavior in guinea pigs.

    abstract::The neuropeptide oxytocin (OXT) is a key factor in the initiation and regulation of sociosexual behavior. The present study analyzes the effects of cohabitation and social challenge on plasma OXT concentration rates in guinea pig pairs in relation to male sociosexual behavior. The cohabitation phase lasted 3 days. On ...

    journal_title:Biological research

    pub_type: 杂志文章

    doi:10.4067/s0716-97602006000200007

    authors: Wallner B,Dittami J,Machatschke I

    更新日期:2006-01-01 00:00:00

  • Plant regeneration of natural tetraploid Trifolium Hum pratense L.

    abstract::The regeneration of natural tetraploid T. pratense, originated from Erzurum-Turkey, is reported in this study. This plant has low seed setting and hard seed problems due to polyploidy. Hypocotyl, cotyledon, apical meristems, epicotyl and young primary leaves were inoculated on MS and PC-L2 media containing different c...

    journal_title:Biological research

    pub_type: 杂志文章

    doi:/S0716-97602008000100004

    authors: Cölgeçen H,Toker MC

    更新日期:2008-01-01 00:00:00

  • The ingestion of a Nectandra membranacea extract changes the bioavailability of technetium-99m radiobiocomplex in rat organs.

    abstract::The radiobiocomplexes labeled with technetium-99m (Tc-99m) have been widely used in nuclear medicine in single photon emission computed tomography and in basic research. The aim of this study was to assess the influence of a Nectandra membranacea extract on the bioavailability of the sodium pertechnetate (Na(99m)TcO(4...

    journal_title:Biological research

    pub_type: 杂志文章

    doi:/S0716-97602007000200004

    authors: Moreno SR,Arnobio A,De Carvalho JJ,Nascimento L,Oliveira Timoteo M,Olej B,Rocha EK,Pereira M,Bernardo-Filho M,Caldas LQ

    更新日期:2007-01-01 00:00:00

  • Anti-inflammatory and redox-protective activities of citronellal.

    abstract::The anti-inflammatory and redox protective effects of the citronellal (CT) were evaluated using in vivo and in vitro tests. Intraperitoneal (i.p.) administration of CT (50, 100, and 200 mg/kg) inhibited (p < 0.05) the carrageenan-induced leukocyte migration to the peritoneal cavity. Additionally, the carrageenan- and ...

    journal_title:Biological research

    pub_type: 杂志文章

    doi:/S0716-97602011000400008

    authors: Melo MS,Guimarães AG,Santana MF,Siqueira RS,De Lima Ado C,Dias AS,Santos MR,Onofre AS,Quintans JS,De Sousa DP,Almeida JR,Estevam CS,Araujo BS,Quintans-Júnior LJ

    更新日期:2011-01-01 00:00:00

  • Biological similarity theories: a comparison with the empirical allometric equations.

    abstract::Twelve biological variables were submitted to dimensional analysis in accordance with the MLT-system of physics (M, mass; L, length; T, time). Each of these variables has a characteristic numerical value for the exponents alpha for mass, beta for length, and gamma for time. By means of Newton's reduction coefficient (...

    journal_title:Biological research

    pub_type: 杂志文章

    doi:

    authors: Günther B,Gonzalez U,Morgado E

    更新日期:1992-01-01 00:00:00

  • The role of MCP-1-CCR2 ligand-receptor axis in chondrocyte degradation and disease progress in knee osteoarthritis.

    abstract:BACKGROUND:Osteoarthritis (OA) is a common arthritic disease and multifactorial whole-joint disease. Interactions of chemokines and OA is inadequately documented. RESULTS:In vivo and in vitro studies were conducted to investigate monocyte chemoattractant protein 1 (MCP-1) and receptor chemokine (C-C motif) receptor 2 ...

    journal_title:Biological research

    pub_type: 杂志文章

    doi:10.1186/s40659-015-0057-0

    authors: Xu YK,Ke Y,Wang B,Lin JH

    更新日期:2015-11-17 00:00:00

  • Idiopathic epilepsy with generalized tonic clonic seizures in Antioquia, Colombia: is the joint Amerindian and Negroid racial admixture the cause of its high prevalence?

    abstract::Most Colombian populations stem from the admixture of Caucasians, Amerindians and Negroids. In the world, these two latter ethnical groups show a significantly higher prevalence of epilepsy than the former one. We tested the hypothesis that the high prevalence of idiopathic epilepsy with generalized tonic clonic seizu...

    journal_title:Biological research

    pub_type: 杂志文章

    doi:

    authors: Jiménez I,Mora O,Lopez G,Jiménez ME,Zuluga L,Isaza R,Sanchez JL,Uribe CS,Valenzuela CY,Blanco R,Arcos-Burgos M

    更新日期:1996-01-01 00:00:00

  • Organic acids, sugars, vitamin C content and some pomological characteristics of eleven hawthorn species (Crataegus spp.) from Turkey.

    abstract:BACKGROUND:The Hawthorn (Crateagus sp.) mostly occurs around the temperate region of the world with a high number of species, producing a fruit with numerous beneficial effects for human health. The aim of the study was to determine organic acid and sugar contents in the fruit of a number of hawthorn species grown in E...

    journal_title:Biological research

    pub_type: 杂志文章

    doi:10.1186/0717-6287-47-21

    authors: Gundogdu M,Ozrenk K,Ercisli S,Kan T,Kodad O,Hegedus A

    更新日期:2014-05-30 00:00:00

  • Analysis of the role of the interleukins in colon cancer.

    abstract:BACKGROUND:The role of interleukin family in colon cancer remained controversial. The purpose of this study was to investigate the association between interleukin family and colon cancer progression through bioinformatics methods and to validate such association in clinical patients. METHODS:A total of 15 differential...

    journal_title:Biological research

    pub_type: 杂志文章

    doi:10.1186/s40659-020-00287-2

    authors: Wei X,Zhang Y,Yang Z,Sha Y,Pan Y,Chen Y,Cai L

    更新日期:2020-05-07 00:00:00

  • Ca2+ entry, efflux and release in smooth muscle.

    abstract::Control of smooth muscle is vital for health. The major route to contraction is a rise in intracellular [Ca2+], determined by the entry and efflux of Ca2+ and release and re-uptake into the sarcoplasmic reticulum (SR). We review these processes in myometrium, to better understand excitation-contraction coupling and de...

    journal_title:Biological research

    pub_type: 杂志文章

    doi:10.4067/s0716-97602004000400017

    authors: Matthew A,Shmygol A,Wray S

    更新日期:2004-01-01 00:00:00

  • Developmental regulation of the expression of sodium currents in Xenopus primary neurons.

    abstract::The electrophysiological properties of neurons are determined by the expression of defined complements of ion channels. Nonetheless, the regulation mechanisms of the expression of neuronal ion channels are poorly understood, due in part to the diversity of neuron subtypes. We explored the expression of voltage-gated c...

    journal_title:Biological research

    pub_type: 杂志文章

    doi:10.4067/s0716-97602006000300010

    authors: Olguín P,Armisen R,Kukuljan M

    更新日期:2006-01-01 00:00:00

  • Redox regulation of RyR-mediated Ca2+ release in muscle and neurons.

    abstract::Changes in the redox state of the intracellular ryanodine receptor/Ca2+ release channels of skeletal and cardiac muscle or brain cortex neurons affect their activity. In particular, agents that oxidize or alkylate free SH residues of the channel protein strongly enhance Ca(2+)-induced Ca2+ release, whereas reducing ag...

    journal_title:Biological research

    pub_type: 杂志文章,评审

    doi:10.4067/s0716-97602004000400007

    authors: Hidalgo C,Bull R,Behrens MI,Donoso P

    更新日期:2004-01-01 00:00:00

  • Signal transduction and gene expression regulated by calcium release from internal stores in excitable cells.

    abstract::Calcium regulation of several transcription factors involves different calcium-dependent signaling cascades and engages cytoplasmic as well as nuclear calcium signals. The study of the specific sources of calcium signals involved in regulation of gene expression in skeletal muscle has been addressed only recently. In ...

    journal_title:Biological research

    pub_type: 杂志文章,评审

    doi:10.4067/s0716-97602004000400028

    authors: Carrasco MA,Jaimovich E,Kemmerling U,Hidalgo C

    更新日期:2004-01-01 00:00:00

  • Improved purification of transducin subunits from bovine retinal rod outer segments.

    abstract::Transducin serves as a mediator between the receptor protein, rhodopsin, and the effector protein, cGMP phosphodiesterase, in the visual process. Transducin is a protein composed of three polypeptides: T alpha, T beta, and T gamma, and acts as two functional units, the alpha-subunit and the beta gamma-complex. In the ...

    journal_title:Biological research

    pub_type: 杂志文章

    doi:

    authors: Bubis J

    更新日期:1995-01-01 00:00:00

  • New insights to the functional role of the T cell-antigen presenting cell immunological synapse.

    abstract::Three innovative and complementary morphological approaches were employed to study the T cell/antigen presenting cell (APC) interaction: (i) high resolution three-dimensional confocal microscopy of the T cell-APC contact site; (ii) time lapse video recording in living T cells of [Ca2+]I and changes in distribution of ...

    journal_title:Biological research

    pub_type: 杂志文章,评审

    doi:10.4067/s0716-97602002000200004

    authors: Faroudi M,Zaru R,Favier B,Valitutti S

    更新日期:2002-01-01 00:00:00

  • LncRNA LINC00460 promotes the papillary thyroid cancer progression by regulating the LINC00460/miR-485-5p/Raf1 axis.

    abstract:BACKGROUND:Papillary thyroid cancer (PTC) is the most common malignancy of all thyroid cancers. LncRNA LINC00460 has been proved to play roles in the oncogenesis and progression of various tumors, including papillary thyroid cancer. However, the potential molecular mechanism of LINC00460 in PTC is poorly investigated. ...

    journal_title:Biological research

    pub_type: 杂志文章

    doi:10.1186/s40659-019-0269-9

    authors: Li G,Kong Q

    更新日期:2019-12-23 00:00:00

  • In vivo analgesic, antipyretic, and anti-inflammatory potential in Swiss albino mice and in vitro thrombolytic activity of hydroalcoholic extract from Litsea glutinosa leaves.

    abstract:BACKGROUND:The study was conducted to evaluate the in vitro thrombolytic activity, and in vivo analgesic, anti-inflammatory and antipyretic potentials of different hydrocarbon soluble extracts of Litsea glutinosa leaves for the first time widely used in the folkloric treatments in Bangladesh. This work aimed to create ...

    journal_title:Biological research

    pub_type: 杂志文章

    doi:10.1186/0717-6287-47-56

    authors: Bhowmick R,Sarwar MS,Dewan SM,Das A,Das B,Uddin MM,Islam MS,Islam MS

    更新日期:2014-10-29 00:00:00

  • Carbonic anhydrase activity in the red blood cells of sea level and high altitude natives.

    abstract::Red blood cell carbonic anhydrase (CA) activity has not been studied in high altitude natives. Because CA is an intraerythocytic enzyme and high altitude natives are polycythemic, it is important to know if the activity of CA per red cell volume is different from that of their sea level counterparts. Blood was collect...

    journal_title:Biological research

    pub_type: 杂志文章

    doi:10.4067/s0716-97602000000300006

    authors: Gamboa J,Caceda R,Gamboa A,Monge-C C

    更新日期:2000-01-01 00:00:00

  • Psoralen inhibits malignant proliferation and induces apoptosis through triggering endoplasmic reticulum stress in human SMMC7721 hepatoma cells.

    abstract:BACKGROUND:Psoralen is a coumarin-like and coumarin-related benzofuran glycoside, which is a commonly used traditional Chinese medicine to treat patients with kidney and spleen-yang deficiency symptom. Psoralen has been reported to show estrogen-like activity, antioxidant activity, osteoblastic proliferation accelerati...

    journal_title:Biological research

    pub_type: 杂志文章

    doi:10.1186/s40659-019-0241-8

    authors: Wang X,Peng P,Pan Z,Fang Z,Lu W,Liu X

    更新日期:2019-07-05 00:00:00

  • Development of a radioimmunoassay for Cebus apella prolactin.

    abstract::Prolactin (PRL) is a pituitary hormone that plays important roles in mammalian reproductive physiology, specially lactation. The regulation of PRL secretion shows important species differences. To study PRL regulation in a subhuman primate, the Cebus apella, we developed an heterologous radioimmunoassay using an antib...

    journal_title:Biological research

    pub_type: 杂志文章

    doi:

    authors: Vásquez K,Vergara M,Recabarren M,Brandeis A,Serón-Ferré M

    更新日期:1997-01-01 00:00:00

  • Evaluation of the role of the endoplasmic reticulum-Golgi transit in the biogenesis of peroxisomal membrane proteins in wild type and peroxisome biogenesis mutant CHO cells.

    abstract::Peroxisomes are thought to be formed by division of pre-existing peroxisomes after the import of newly synthesized proteins. However, it has been recently suggested that the endoplasmic reticulum (ER) provides an alternative de novo mechanism for peroxisome biogenesis in some cells. To test a possible role of the ER-G...

    journal_title:Biological research

    pub_type: 杂志文章

    doi:10.4067/s0716-97602007000200014

    authors: Toro A,Arredondo C,Córdova G,Araya C,Palacios JL,Venegas A,Morita M,Imanaka T,Santos MJ

    更新日期:2007-01-01 00:00:00

  • Effectiveness of zinc in modulating perinatal effects of arsenic on the teratological effects in mice offspring.

    abstract::Exposure to arsenic via drinking water is considered as a worldwide problem. Studies have shown that arsenic exposure during pregnancy affects embryogenesis and offspring development in rats and mice. Zinc as a micronutrient regulates many physiological functions, including an antioxidative role under various toxic co...

    journal_title:Biological research

    pub_type: 杂志文章

    doi:10.4067/S0716-97602013000200003

    authors: Ahmad M,Wadaa MA,Farooq M,Daghestani MH,Sami AS

    更新日期:2013-01-01 00:00:00

  • Cytotoxicity, nitric oxide and acetylcholinesterase inhibitory activity of three limonoids isolated from Trichilia welwitschii (Meliaceae).

    abstract:BACKGROUND:Limonoids are highly oxygenated compounds with a prototypical structure. Their occurrence in the plant kingdom is mainly confined to plant families of Meliaceae and Rutaceae. Owing to their wide range of pharmacological and therapeutic properties, this study was aimed at investigating the potential nitric ox...

    journal_title:Biological research

    pub_type: 杂志文章

    doi:10.1186/s40659-015-0049-0

    authors: Dzoyem JP,Tsamo AT,Melong R,Mkounga P,Nkengfack AE,McGaw LJ,Eloff JN

    更新日期:2015-10-13 00:00:00

  • Neuron-derived CCL2 contributes to microglia activation and neurological decline in hepatic encephalopathy.

    abstract:BACKGROUND:CCL2 was up-regulated in neurons and involved in microglia activation and neurological decline in mice suffering from hepatic encephalopathy (HE). However, no data exist concerning the effect of neuron-derived CCL2 on microglia activation in vitro. METHODS:The rats were pretreated with CCL2 receptor inhibit...

    journal_title:Biological research

    pub_type: 杂志文章

    doi:10.1186/s40659-017-0130-y

    authors: Zhang L,Tan J,Jiang X,Qian W,Yang T,Sun X,Chen Z,Zhu Q

    更新日期:2017-09-04 00:00:00

  • Antitumor function and mechanism of phycoerythrin from Porphyra haitanensis.

    abstract::The anti-tumor effect of R-Phycoerythrin (R-PE) from Porphyra haitanensis was studied using cell line HeLa as an in vitro model and Sarcoma-180 (S180) tumor-bearing mice as an in vivo model. The results showed that the combination treatment of R-PE and photodynamic therapy PDT) significantly inhibited the growth of He...

    journal_title:Biological research

    pub_type: 杂志文章,评审

    doi:10.4067/S0716-97602013000100013

    authors: Pan Q,Chen M,Li J,Wu Y,Zhen C,Liang B

    更新日期:2013-01-01 00:00:00

  • p53-independent checkpoint controls in a plant cell model.

    abstract::Allium cepa L. meristems were used as a plant model to study the p53-independent control of S and G2 phases by checkpoint pathways, in eukaryotic cells. Checkpoint blocks were induced at early and mid S by hydroxyurea. After their spontaneous override, cells became accumulated in G2-prophase, giving rise later on to a...

    journal_title:Biological research

    pub_type: 杂志文章

    doi:10.4067/s0716-97602003000300009

    authors: Pelayo HR,Pincheira J,Giménez-Abián JF,Clarke DJ,de la Torre C

    更新日期:2003-01-01 00:00:00

  • miR-214 ameliorates acute kidney injury via targeting DKK3 and activating of Wnt/β-catenin signaling pathway.

    abstract:BACKGROUND:miR-214 was demonstrated to be upregulated in models of renal disease and promoted fibrosis in renal injury independent of TGF-β signaling in vivo. However, the detailed role of miR-214 in acute kidney injury (AKI) and its underlying mechanism are still largely unknown. METHODS:In this study, an I/R-induced...

    journal_title:Biological research

    pub_type: 杂志文章

    doi:10.1186/s40659-018-0179-2

    authors: Zhu X,Li W,Li H

    更新日期:2018-09-04 00:00:00

  • The monthly rhythm of incidence and age at menarche: thirty five years of research. The circa-vacation-study expectancy rhythm of incidence and age at menarche.

    abstract::The hypothesis that the vacation-study-expectancy scholar regime produces most of the monthly rhythm of the age at menarche (AaM) was tested. Studies on monthly menarche incidence (MI) refuted climatic factors as a main factor in this rhythm, and indicated that the main factor of this rhythm is the succession of expec...

    journal_title:Biological research

    pub_type: 杂志文章,评审

    doi:10.4067/S0716-97602013000100003

    authors: Valenzuela CY

    更新日期:2013-01-01 00:00:00

  • Two alternative models concerning the perialveolar microcirculation in mammalian lungs.

    abstract::Despite the fact that the concept of sheet-flow in the pulmonary microcirculation of mammals was introduced more than three decades ago, the capillary circulatory model still prevails in the physiological literature. Since cardiac output is identical in the systemic and in pulmonary circulations, it is noteworthy that...

    journal_title:Biological research

    pub_type: 杂志文章

    doi:10.4067/s0716-97602005000100007

    authors: Günther B,Morgado E,Cociña M

    更新日期:2005-01-01 00:00:00

  • Genetic polymorphisms and asthma: findings from a case-control study in the Madeira island population.

    abstract:BACKGROUND:Asthma is a complex disease influenced by multiple genetic and environmental factors. While Madeira has the highest prevalence of asthma in Portugal (14.6%), the effect of both genetic and environmental factors in this population has never been assessed. We categorized 98 asthma patients according to the Glo...

    journal_title:Biological research

    pub_type: 杂志文章

    doi:10.1186/0717-6287-47-40

    authors: Berenguer AG,Fernandes AT,Oliveira S,Rodrigues M,Ornelas P,Romeira D,Serrão T,Rosa A,Câmara R

    更新日期:2014-09-04 00:00:00