Ulnar-Mammary syndrome (UMS) is a rare monogenic disorder caused by mutations of the TBX3 gene. This paper reported a family of UMS. The proband, a 15-year old man, was presented with mammary gland dysplasia, ulnar limb defect, short stature, and delayed growth. Whole exome sequencing revealed a 1294_1301dup mutation in exon 6 of the TBX3 gene. Sanger sequencing was used to verify other members of the family, which suggested his mother also carried the same mutation, but merely resulting in the dysplasia of her left little finger. Notably, unilateral finger involvement without any systemic organ involvement was unusual in UMS patients. The proband then was treated with recombinant human growth hormone (rhGH) and human chorionic gonadotropin (hCG). After a year and a half, his height and secondary sexual characteristics were significantly improved. The clinical manifestations of the disease are highly heterogeneous, which is easy to be misdiagnosed and missed. When the diagnosis is unclear, genetic testing is helpful for auxiliary diagnosis.
Humans ; Male ; Female ; Adolescent ; T-Box Domain Proteins/genetics* ; East Asian People ; Breast Diseases/genetics* ; Mutation

Breastfeeding is well-known for its benefits of preventing communicable and non-communicable diseases. Human breastmilk consists not only of nutrients, but also of bioactive substances. What's more, the epigenetic effects of human breast milk may also play an important role. Alterations in the epigenetic regulation of genes may lead to profound changes in phenotype. Clarifying the role of human breast milk on genetic expression can potentially benefit the infant's health and his later life. This review article makes a brief summary of the epigenetic mechanism of breast milk, and its epigenetic effects on neonatal necrotizing enterocolitis, infectious diseases, metabolism syndrome, cognitive function and anaphylactic diseases.
Breast Feeding ; Cognition ; Communicable Diseases ; etiology ; genetics ; Enterocolitis, Necrotizing ; etiology ; genetics ; Epigenesis, Genetic ; Female ; Humans ; Hypersensitivity ; etiology ; genetics ; Infant, Newborn ; Metabolic Syndrome ; etiology ; genetics

OBJECTIVETo estimate the contribution of known identified risk factors to breast cancer incidence and mortality in China, and provide evidence to support the prevention and control of breast cancer for Chinese females.

METHODSWe calculated the proportion of breast cancer attributable to specific risk factors. Data on exposure prevalence were obtained from Meta-analyses and large-scale national surveys of representative samples of the Chinese population. Data on relative risks were obtained from Meta-analyses and large-scale prospective studies. Cancer mortality and incidence were taken from the Third National Death Survey and from cancer registries in China.

RESULTSThe first 5 risk factors of breast cancer in China were benign breast disease (RR = 2.62), family history of breast cancer (RR = 2.39), smoking (RR = 1.86), overweight (RR = 1.60) and age at menarche (RR = 1.54). The proportion of breast cancer deaths attributable to reproductive factors, lifestyle factors, benign breast disease, the use of external hormone and family history of breast cancer was 27.84%, 23.55%, 15.09%, 3.60% and 2.49%, respectively. The total population attributable fraction (PAF) was 55.95% for risk factors in our study. Overall, we estimated that 79 862 breast cancer cases and 22 456 deaths were attributed to the five risk factors in China in 2005.

CONCLUSIONSThe prevention and control of unhealthy lifestyle factors may significantly reduce the number and death of breast cancer in China.

Breast Diseases ; complications ; Breast Neoplasms ; epidemiology ; etiology ; genetics ; China ; epidemiology ; Female ; Genetic Predisposition to Disease ; Humans ; Menarche ; Meta-Analysis as Topic ; Overweight ; complications ; Risk Factors ; Smoking ; adverse effects

OBJECTIVESTo observe the expression of somatostatin receptor subtype 2 (SSTR2) mRNA, and investigate the relationship between the expression of SSTR2 mRNA and the expressions of estrogen and progesterone receptors (ERs and PRs) in benign and malignant breast tissues.

METHODSSamples from a total of 23 breast carcinomas, 16 mammary hyperplasias, and 9 mammary fibroadenomas were analyzed. SSTR2 mRNA expression was examined by in situ hybridization using multiphase oligoprobes. ER and PR expressions were detected by immunohistochemical staining. A computerized image analysis system was utilized to estimate the relative content of SSTR2 mRNA.

RESULTSThe rate of expression (87.0%) and relative content (0.47) of SSTR2 mRNA in breast cancer were higher than those in benign breast tissue (64%, 0.26) (P < 0.05). SSTR2 mRNA expression was closely correlated with ER and PR expressions in breast cancer (P < 0.05). SSTR2 mRNA was also positively correlated with ER expression in benign breast tissues.

CONCLUSIONSSSTR2 mRNA expression is higher or in benign breast tissues than in malignant ones. There is a significant positive correlation between SSTR2 mRNA and ER and PR expressions. Combined antiestrogen and somatostatin analogue in treatment of ER-positive breast cancers should be further investigated.

Breast Diseases ; metabolism ; Breast Neoplasms ; chemistry ; Humans ; Immunohistochemistry ; In Situ Hybridization ; RNA, Messenger ; analysis ; Receptors, Estrogen ; analysis ; Receptors, Progesterone ; analysis ; Receptors, Somatostatin ; genetics

Breast Diseases ; diagnostic imaging ; metabolism ; Breast Neoplasms ; diagnostic imaging ; metabolism ; Class I Phosphatidylinositol 3-Kinases ; genetics ; Female ; Humans ; Middle Aged ; Point Mutation

OBJECTIVETo comprehensively analyse and evaluate the risk factors and to predict the trend of breast cancer in China.

METHODSCollecting the articles on case-control studies related to breast cancer in the last 10 years in China. Calculating the relative risk (OR) and 95% confidence interval (95%CI) of risk factors by the random effect model of Meta-analysis to estimate present and future population attributable risk percent (PARP) based on the exposure rate of risk factor and to predict the change of incidence rates of breast cancer during the following 5 years with the change of exposure rates.

RESULTSTwenty-two articles referred to case-control studies on breast cancer were selected. The OR and its 95%CI of the first 5 risk factors of breast cancer in China were benign breast lesion 3.39 (2.97 - 3.86), psychological stimulation 2.36 (2.09 - 2.67), breast-feeding 1.95 (1.54 - 2.47), family history of tumor 1.84 (1.63 - 2.08) and menstruation 1.65 (1.44 - 1.89). The factors with higher PRAP were benign breast lesion, breast-feeding, psychological stimulation with PRAR 15.47%, 15.17%, 13.76%, respectively. Their PRAP would have decreased to 12.77%, 11.32%, 12.52% and 9.90%, 8.74%, 9.69% respectively if the exposure rates had decreased 20% and 40% in the next 5 or 10 years. Factors contributing to the change of incidence rate of breast cancer would include benign breast lesion, breast-feeding, psychological stimulation along with the change of exposure rate. The incidence rates of breast cancer would then have become 3.09%, 2.75%, 3.03% and 6.19%, 5.50%, 6.07% respectively if their exposure rate had decreased 20% and 40% in the next 5 or 10 years.

CONCLUSIONDecreasing benign breast lesion, avoiding psychological stimulation, advocating on breast-feeding seemed to be the effective measures to control the occurrence and development of breast cancer.

Adult ; Age Factors ; Aged ; Body Weight ; Breast Diseases ; complications ; Breast Feeding ; Breast Neoplasms ; epidemiology ; etiology ; genetics ; Case-Control Studies ; China ; epidemiology ; Female ; Genetic Predisposition to Disease ; epidemiology ; Humans ; Middle Aged ; Proportional Hazards Models ; Risk Factors ; Stress, Psychological ; complications

Androgen receptor (AR) gene has been extensively studied in diverse clinical conditions. In addition to the point mutations, trinucleotide repeat (CAG and GGN) length polymorphisms have been an additional subject of interest and controversy among geneticists. The polymorphic variations in triplet repeats have been associated with a number of disorders, but at the same time contradictory findings have also been reported. Further, studies on the same disorder in different populations have generated different results. Therefore, combined analysis or review of the published studies has been of much value to extract information on the significance of variations in the gene in various clinical conditions. AR genetics has been reviewed extensively but until now review articles have focused on individual clinical categories such as androgen insensitivity, male infertility, prostate cancer, and so on. We have made the first effort to review most the aspects of AR genetics. The impact of androgens in various disorders and polymorphic variations in the AR gene is the main focus of this review. Additionally, the correlations observed in various studies have been discussed in the light of in vitro evidences available for the effect of AR gene variations on the action of androgens.
Androgen-Insensitivity Syndrome ; genetics ; physiopathology ; Bone Diseases, Metabolic ; genetics ; physiopathology ; Breast Neoplasms ; genetics ; physiopathology ; Cognition Disorders ; genetics ; physiopathology ; Digestive System Diseases ; genetics ; physiopathology ; Female ; Genital Neoplasms, Female ; genetics ; physiopathology ; Genital Neoplasms, Male ; genetics ; physiopathology ; Humans ; Infertility, Male ; genetics ; Male ; Muscular Atrophy, Spinal ; genetics ; physiopathology ; Phenotype ; Point Mutation ; Polycystic Ovary Syndrome ; genetics ; physiopathology ; Polymorphism, Genetic ; Pre-Eclampsia ; genetics ; physiopathology ; Pregnancy ; Receptors, Androgen ; genetics ; physiology ; Schizophrenia ; genetics ; physiopathology ; Testosterone ; deficiency ; Trinucleotide Repeats

OBJECTIVETo study the effect of Shugan Shuru Granule (SSG) on the p53 gene expression in patients with hyperplastic disease of breast (HDB) to indirectly explore the mechanism of SSG's effect on HDB on the molecular pathological level.

METHODSSixty-six patients with HDB were allocated in the treated group and the control group, with the former treated with SSG and the latter not. All patients underwent breast operation and their diseased mammary tissues were cut out, sectioned, and observed under microscopy with HE staining and immunohistochemical staining, with ABC method adopted to estimate the degree of hyperplasia and p53 gene expression. The severity of HDB was classified into normal, mild, moderate and severe grades (marked as 0 to III), according to the degree of hyperplasia in the mammary gland.

RESULTSHyperplasia in the control group mostly belonged to grade I-III before treatment, showing overgrowth of gland and proliferation of glandular epithelial cells, which were high columnar shaped, more stratified, with papillary or substantive dysplasia. While in the treated group, most belonged to grade 0-I after SSG treatment, with proliferated gland and dysplasia recovered to normal or disappeared. The positive rate of p53 gene expression in the treated group was 9.09%, and in the control group 39.39%, comparison between the two groups showing significant difference (P < 0.01), the intensity in the former was significantly weaker than that in the latter.

CONCLUSIONSSG could not only inhibit the proliferation of mammary duct epithelia and lobuli, but also inhibit the over-expression of P53. Therefore, it could be regarded as an effective remedy for treatment of HDB and prevention of mammary cancer genesis.

Adult ; Breast Diseases ; drug therapy ; pathology ; surgery ; Breast Neoplasms ; prevention & control ; Drugs, Chinese Herbal ; administration & dosage ; Epithelium ; pathology ; physiology ; Female ; Gene Expression ; drug effects ; Humans ; Hyperplasia ; Mammary Glands, Human ; pathology ; physiology ; Middle Aged ; Tumor Suppressor Protein p53 ; genetics

Breast cancer is one of the leading causes of death in women today. Some of the patients are hereditary, with a large proportion characterized by mutation in BRCA1 and/or BRCA2 genes. In this review, we provide an overview of these two genes, focusing on their relationship with hereditary breast cancers. BRCA1/2 associated hereditary breast cancers have unique features that differ from the general breast cancers, including alterations in cellular molecules, pathological bases, biological behavior, and a different prevention strategy. But the outcome of BRCA1/2 associated hereditary breast cancers still remains controversial; further studies are needed to elucidate the nature of BRCA1/2 associated hereditary breast cancers.
Apoptosis Regulatory Proteins ; BRCA1 Protein ; genetics ; physiology ; BRCA2 Protein ; genetics ; physiology ; Breast Neoplasms ; genetics ; metabolism ; Disease Progression ; Female ; Gene Expression Regulation, Neoplastic ; Genetic Diseases, Inborn ; Genetic Predisposition to Disease ; Humans ; Mutation ; Prognosis

Association between postoperative nausea and vomiting (PONV) and micro-opioid receptor A118G single nucleotide polymorphism (SNP) is undefined and might underlie inconsistent results of studies on PONV occurrence in patients undergoing general anesthesia with the opioid, remifentanil. Four hundred and sixteen Korean women undergoing breast surgery with general anesthesia were randomized to receive remifentanil 10 ng/mL (plasma-site, Minto model) using a target-controlled infusion device and either propofol for total intravenous anesthesia (T group) or sevoflurane for inhalation anesthesia (I group) with bispectral index values maintained between 40 and 60. Blood specimens were collected after anesthesia induction for A118G SNP analysis. PONV and postoperative pain were evaluated. A118G SNP type distribution among Korean female adults studied was AG (n=195)>AA (n=158)>GG (n=63). Regardless of anesthetic technique, patients with GG types had lower PONV scale on arrival at postoperative care unit (PACU) (P=0.002), while T group showed lower PONV scale than I group up to 6 hr after PACU discharge in AA and AG types. No differences were apparent for postoperative pain among opioid receptor polymorphism. PONV occurrence differs according to opioid receptor polymorphism and anesthetic technique in patients undergoing general anesthesia with remifentanil.
Adult ; Analgesics, Opioid/*adverse effects ; Anesthesia, General/*adverse effects ; Breast Diseases/surgery ; Demography ; Double-Blind Method ; Female ; Humans ; Methyl Ethers/adverse effects/therapeutic use ; Pain, Postoperative/drug therapy ; Piperidines/*adverse effects/therapeutic use ; *Polymorphism, Single Nucleotide ; Postoperative Nausea and Vomiting/*etiology ; Receptors, Opioid, mu/*genetics