RESUMEN
BACKGROUND: Breast cancer is one of the most common malignancies in women. Genome-wide association studies have identified FGFR2 as a breast cancer susceptibility gene. Common variation in other fibroblast growth factor (FGF) receptors might also modify risk. We tested this hypothesis by studying genotyped single-nucleotide polymorphisms (SNPs) and imputed SNPs in FGFR1, FGFR3, FGFR4 and FGFRL1 in the Breast Cancer Association Consortium. METHODS: Data were combined from 49 studies, including 53 835 cases and 50 156 controls, of which 89 050 (46 450 cases and 42 600 controls) were of European ancestry, 12 893 (6269 cases and 6624 controls) of Asian and 2048 (1116 cases and 932 controls) of African ancestry. Associations with risk of breast cancer, overall and by disease sub-type, were assessed using unconditional logistic regression. RESULTS: Little evidence of association with breast cancer risk was observed for SNPs in the FGF receptor genes. The strongest evidence in European women was for rs743682 in FGFR3; the estimated per-allele odds ratio was 1.05 (95% confidence interval=1.02-1.09, P=0.0020), which is substantially lower than that observed for SNPs in FGFR2. CONCLUSION: Our results suggest that common variants in the other FGF receptors are not associated with risk of breast cancer to the degree observed for FGFR2.
Asunto(s)
Neoplasias de la Mama/genética , Predisposición Genética a la Enfermedad , Receptor Tipo 2 de Factor de Crecimiento de Fibroblastos/genética , Estudios de Casos y Controles , Femenino , Variación Genética , Estudio de Asociación del Genoma Completo , Genotipo , Humanos , Polimorfismo de Nucleótido Simple/genética , Receptor Tipo 1 de Factor de Crecimiento de Fibroblastos/genética , Receptor Tipo 3 de Factor de Crecimiento de Fibroblastos/genética , Receptor Tipo 4 de Factor de Crecimiento de Fibroblastos/genética , Receptor Tipo 5 de Factor de Crecimiento de Fibroblastos/genéticaAsunto(s)
Neoplasias de la Mama/etnología , Neoplasias de la Mama/genética , Genes BRCA1 , Haplotipos , Neoplasias Ováricas/etnología , Neoplasias Ováricas/genética , Edad de Inicio , Proteína BRCA1/metabolismo , Etnicidad , Femenino , Efecto Fundador , Humanos , Repeticiones de Microsatélite , Persona de Mediana Edad , Mutación , SingapurAsunto(s)
Accidentes de Tránsito , Ciclismo/legislación & jurisprudencia , Traumatismos Craneocerebrales/prevención & control , Dispositivos de Protección de la Cabeza/estadística & datos numéricos , Política Pública , Accidentes de Tránsito/estadística & datos numéricos , Ciclismo/normas , Traumatismos Craneocerebrales/epidemiología , Humanos , SingapurRESUMEN
Fallopian tube carcinoma is a very rare tumor, comprising less than 1% of all gynecologic cancers and found primarily in postmenopausal women. With the disease being so uncommon, little is known about its causes and/or risk factors, and treatment approaches have been taken from experiences with ovarian cancer. We describe a case of a 42-year-old woman with fallopian tube cancer in which the founder mutation BRCA1c.2845insA was detected by mutational analysis. This same mutation was subsequently detected in four unaffected members of her family following genetic counseling. We report an association between this founder mutation and fallopian tube cancer as part of the hereditary breast cancer syndrome in an Asian population. A literature review of the association between this rare malignancy and BRCA mutation carriers and its implications to prophylactic surgery is discussed.
Asunto(s)
Adenocarcinoma Papilar/genética , Protocolos de Quimioterapia Combinada Antineoplásica/administración & dosificación , Neoplasias de las Trompas Uterinas/genética , Genes BRCA1 , Síndromes Neoplásicos Hereditarios/genética , Adenocarcinoma Papilar/terapia , Adulto , Pueblo Asiatico/genética , Neoplasias de la Mama/genética , Carboplatino/administración & dosificación , Neoplasias de las Trompas Uterinas/terapia , Femenino , Mutación del Sistema de Lectura , Asesoramiento Genético , Predisposición Genética a la Enfermedad , Procedimientos Quirúrgicos Ginecológicos , Heterocigoto , Humanos , Síndromes Neoplásicos Hereditarios/terapia , Paclitaxel/administración & dosificación , LinajeRESUMEN
This study was undertaken to assess the changes in the local morphology of the rectus abdominis muscle following intramuscular dissection of the deep inferior epigastric artery perforators after harvesting of the deep inferior epigastric perforator (DIEP) flap. While the DIEP provides the well-known advantage of use of the lower abdominal tissue with preservation of the integrity of the abdominal wall musculature, postoperative problems such as abdominal asymmetry, bulges and reduced flexion capacity have been found. These changes may be due to rectus abdominis muscle damage from ischemia or denervation. We used ultrasonography to assess the changes in rectus abdominis muscle thickness and contractility, preoperatively, 1-month and 1-year postoperatively. The study group consisted of 17 rectus abdominis muscles in 14 patients subjected to intramuscular dissection of perforators. The control group consisted of 11 intact rectus abdominis muscles in 11 patients who had undergone unilateral DIEP flap elevation, the dissected muscles being part of the study group. We found that the resting muscle thickness in the study group was, significantly increased at 1-month postoperatively, resolving by 1-year follow-up. As these changes were not seen in the control group, the increased muscle thickness is attributed to postoperative oedema that resolves with time. All muscles in the study and control groups retained contractility showing no evidence of muscle denervation. Our date demonstrates that intramuscular dissection of perforator vessels in the DIEP flap leads to minimal changes in the local morphology and contractility of the rectus abdominis muscle.
Asunto(s)
Neoplasias de la Mama/cirugía , Mamoplastia/métodos , Recto del Abdomen/patología , Colgajos Quirúrgicos/patología , Adulto , Neoplasias de la Mama/diagnóstico por imagen , Neoplasias de la Mama/patología , Arterias Epigástricas , Femenino , Humanos , Tiempo de Internación , Persona de Mediana Edad , Contracción Muscular , Cuidados Posoperatorios/métodos , Estudios Prospectivos , Recto del Abdomen/diagnóstico por imagen , Recto del Abdomen/fisiopatología , Recto del Abdomen/trasplante , UltrasonografíaRESUMEN
Recommended guidelines have limited breast cancer gene ( BRCA1 ) mutation testing to individuals with a personal or family history of early onset breast and/or ovarian cancer, and those with multiple affected close relatives. Such large breast cancer families are rare in the general population, limiting the clinical application of the BRCA1 discovery. Previous reports have suggested an association between medullary breast cancer and BRCA1 mutation carriers. To test the feasibility of using these rare histological subtypes as an alternative to epidemiological factors, 42 cases of medullary cancer unselected for family history were screened for BRCA1 point mutations and large exon rearrangements. The large majority (83%) of these patients did not have significant family of breast or ovarian cancer. Two deleterious mutations resulting in a premature stop codon, and one exon 13 duplication were found. All mutations were detected in patients with typical medullary cancer, who had family history of multiple breast and ovarian cancers. Our findings suggest that medullary breast cancers are not an indication for BRCA1 mutation screening in the absence of significant family risk factors.
Asunto(s)
Neoplasias de la Mama/genética , Carcinoma Medular/genética , Genes BRCA1 , Pruebas Genéticas/métodos , Neoplasias de la Mama/diagnóstico , Carcinoma Medular/diagnóstico , Análisis Mutacional de ADN/métodos , Estudios de Factibilidad , Femenino , Predisposición Genética a la Enfermedad , Mutación de Línea Germinal , Humanos , Anamnesis , Persona de Mediana Edad , PrevalenciaAsunto(s)
Neoplasias de la Mama/genética , Efecto Fundador , Genes BRCA1 , Mutación , Neoplasias Ováricas/genética , Adulto , Edad de Inicio , Neoplasias de la Mama/etnología , Femenino , Predisposición Genética a la Enfermedad , Mutación de Línea Germinal , Humanos , Intrones , Malasia/etnología , Persona de Mediana Edad , Mutación Missense , Neoplasias Ováricas/etnología , Polimorfismo Genético , Singapur/epidemiologíaAsunto(s)
Neoplasias de la Mama/genética , Genes BRCA1 , Mutación , Neoplasias Ováricas/genética , Neoplasias de la Mama/etnología , Estudios de Casos y Controles , Etnicidad , Femenino , Efecto Fundador , Humanos , Malasia/etnología , Persona de Mediana Edad , Neoplasias Ováricas/etnología , Singapur/etnologíaRESUMEN
INTRODUCTION: The mastectomy clinical pathway was developed to optimise the clinical care and cost management of breast cancer patients. The aim of this study was to prospectively assess the effect of the mastectomy pathway at the National University Hospital, Singapore over a 7-month period. MATERIALS AND METHODS: A prospective study was carried out on all breast cancer patients admitted for elective mastectomy between March and October 2001. As surrogates of optimised cost and care management, the length of stay and hospital costs, as well as the incidence of complications and unscheduled readmissions, were analysed. Non-pathway mastectomy patients treated from March to October 2000 were used as controls. A total of 83 patients who underwent mastectomy formed the pathway group, while 69 non-pathway patients acted as controls. RESULTS: Compared to controls, the mean length of hospital stay decreased significantly from 4.91 days to 4.10 days (P = 0.018) and the mean cost per case decreased significantly from $5,050 to $4,406 (P = 0.014) for those in the pathway group. There were no significant differences in the complications and unscheduled hospital readmission rates between the two groups (P > 0.05). CONCLUSION: The implementation of mastectomy clinical pathway has improved consistency in patient's treatment, the quality of patient outcome, and has reduced the costs of care and length of hospital stay. In addition, variance analysis of the mastectomy pathway has shown to be valuable for problem identification to improve patient care.
Asunto(s)
Neoplasias de la Mama/economía , Neoplasias de la Mama/cirugía , Vías Clínicas/economía , Vías Clínicas/estadística & datos numéricos , Costos de la Atención en Salud/estadística & datos numéricos , Tiempo de Internación/economía , Tiempo de Internación/estadística & datos numéricos , Mastectomía/efectos adversos , Mastectomía/economía , Readmisión del Paciente/economía , Readmisión del Paciente/estadística & datos numéricos , Complicaciones Posoperatorias , Adulto , Análisis de Varianza , Femenino , Hospitales Universitarios/economía , Hospitales Universitarios/estadística & datos numéricos , Humanos , Mastectomía/estadística & datos numéricos , Persona de Mediana Edad , Evaluación de Resultado en la Atención de Salud/economía , Evaluación de Resultado en la Atención de Salud/estadística & datos numéricos , Estudios Prospectivos , Singapur , Factores de TiempoRESUMEN
INTRODUCTION: We report a case of transomental herniation of the ileum through a defect in the gastrocolic ligament with re-emergence through a defect in the gastrohepatic ligament. This type of herniation is extremely rare and a review of the literature is presented. CLINICAL PRESENTATION: A 41-year-old Chinese male presented with signs and symptoms of intestinal obstruction. TREATMENT: An urgent laparotomy was undertaken and he was found to have a rare form of intra-abdominal hernia. The hernia was reduced and the defects were closed. OUTCOME: Postoperative recovery was unremarkable. CONCLUSION: Urgent operation should not be delayed because of the high mortality associated with strangulation.
Asunto(s)
Hernia/complicaciones , Obstrucción Intestinal/etiología , Obstrucción Intestinal/cirugía , Epiplón , Enfermedades Peritoneales/complicaciones , Enfermedades Peritoneales/cirugía , Abdomen Agudo/diagnóstico , Abdomen Agudo/etiología , Adulto , Urgencias Médicas , Estudios de Seguimiento , Hernia/diagnóstico , Hernia Ventral/complicaciones , Hernia Ventral/diagnóstico , Hernia Ventral/cirugía , Herniorrafia , Humanos , Laparotomía/métodos , Masculino , Enfermedades Peritoneales/diagnóstico , Enfermedades Raras , Medición de Riesgo , Índice de Severidad de la Enfermedad , Resultado del TratamientoRESUMEN
Laboratory-based research in germ line mutations associated with breast cancer susceptibility is rapidly being integrated into clinical practice with profound implications. A Medline search was performed for all relevant articles published since 1990. Where appropriate, historical articles referenced in those identified were also reviewed. The results suggested that while mutations in the BRCA1 and BRCA2 genes are the most clinically relevant, much of the data on which clinical decisions are based must be interpreted with wide confidence intervals. Between 1 in 152 and 1 in 833 individuals carry such mutations. They account for less than 5% of all breast cancer, but up to 10% of cancers in those under the age of 40 years. Founder mutations are responsible for a larger proportion of breast cancer cases within certain inbred communities. Phenotypic expression and penetrance of different mutations is not currently predictable and estimates of penetrance are largely based on highly selected populations. BRCA1 mutations are more commonly associated with ovarian cancer than BRCA2 mutations. BRCA1 cancers tend to have more distinct pathological features and are usually oestrogen receptor (ER)-negative. To conclude, the evidence in this review suggests that caution should be exercised when translating scientific progress in breast cancer germ line genetics into clinical practice. Most of the available data are derived from studies on highly selected populations. The importance of other less penetrant, but more prevalent, germ line mutations may be realised in the future.
Asunto(s)
Proteína BRCA2 , Neoplasias de la Mama/genética , Predisposición Genética a la Enfermedad/genética , Mutación de Línea Germinal/genética , Factores de Edad , Proteínas Reguladoras de la Apoptosis , Ataxia Telangiectasia/genética , Síndrome de Bloom/genética , Femenino , Efecto Fundador , Genes BRCA1/genética , Pruebas Genéticas/métodos , Síndrome de Hamartoma Múltiple/genética , Humanos , Síndrome de Li-Fraumeni/genética , Pérdida de Heterocigocidad , Proteínas de Neoplasias/genética , Fenotipo , Análisis de SupervivenciaRESUMEN
This is a retrospective study of 40 cases of phyllodes tumour treated at the National University Hospital since 1985. The mean age of presentation was 37.8 years, with a range of 15 to 58 years [standard deviation (SD) 11.22 years]. Ninety per cent of the patients were premenopausal. The mean size of tumours was 52 mm, with a range of 10 to 220 mm. Preoperative diagnosis was correct in only five patients, the lesion most commonly being mistaken as a fibroadenoma. Initial surgical treatment was by simple excision in 80% of cases. Histologically, the ratio of benign, intermediate and malignant tumours was 82.5%, 12.5% and 5% respectively. Recurrences occurred in only four patients (10%), all of whom were initially treated by simple excision. The diagnosis of phyllodes tumour continues to be difficult even with newer modalities of preoperative investigations, resulting in simple excision as initial treatment of these tumours. Expectant follow-up should be continued for these patients, with wide excision of future recurrences.
Asunto(s)
Neoplasias de la Mama/diagnóstico , Tumor Filoide/diagnóstico , Adolescente , Adulto , Factores de Edad , Neoplasias de la Mama/patología , Neoplasias de la Mama/cirugía , Diagnóstico Diferencial , Femenino , Fibroadenoma/diagnóstico , Enfermedad Fibroquística de la Mama/diagnóstico , Estudios de Seguimiento , Humanos , Mastectomía Segmentaria , Persona de Mediana Edad , Recurrencia Local de Neoplasia/patología , Recurrencia Local de Neoplasia/cirugía , Tumor Filoide/patología , Tumor Filoide/cirugía , Premenopausia , Estudios Retrospectivos , Sarcoma/diagnóstico , SingapurRESUMEN
BACKGROUND: This study was undertaken to determine the incidence of preventable trauma death at a non-designated trauma centre in Singapore. METHODS: A retrospective audit was carried out on all trauma deaths that occurred between January 1993 and December 1994 at the National University Hospital, Singapore. Of the 138 deaths, 38.4% (53/138) of patients were dead on arrival and were omitted from the study. Data from the remaining 85 deaths were summarized and presented before a multidisciplinary review board and injuries were scored according to the Abbreviated Injury Scale (AIS). RESULTS: Except for one patient, all deaths had an AIS score of 16 or greater. Sixty-one per cent (52/85) of deaths were the result of severe head injuries, and the rest had severe injuries in more than one body region. Following the guidelines of the Trauma Research and Education Foundation of San Diego, the incidence of 'not preventable', 'potentially preventable' and 'frankly preventable' deaths were 77.6, 15.3 and 7.1%, respectively. The most common errors in management were caused by delays in inter-departmental transfer (25.9%) and missed initial diagnosis (16.5%). After assessment by the Coroner's Office, autopsies were carried out in 60% of the cases and yielded information that altered the assessment of preventable deaths, particularly in the group with multiple injuries. CONCLUSIONS: The present study concludes that the preventable death rates in the National University Hospital are comparable to those in non-trauma designated centres elsewhere. There can only be a decrease in the preventable death rate if an improved system of pre-hospital trauma care, improved interdisciplinary communication, closer supervision of the initial attending physicians and stricter protocols on clinical monitoring are established.