Abstract:
:Hereditary breast cancer accounts for up to 5-10% of all breast carcinomas. Recent studies have demonstrated that mutations in two high-penetrance genes, namely BRCA1 and BRCA2, are responsible for about 16% of the familial risk of breast cancer. Even though subsequent studies have failed to find another high-penetrance breast cancer susceptibility gene, several genes that confer a moderate to low risk of breast cancer development have been identified; moreover, hereditary breast cancer can be part of multiple cancer syndromes. In this review we will focus on the hereditary breast carcinomas caused by mutations in BRCA1, BRCA2, Fanconi anaemia (FANC) genes, CHK2 and ATM tumour suppressor genes. We describe the hallmark histological features of these carcinomas compared with non-hereditary breast cancers and show how an accurate histopathological diagnosis may help improve the identification of patients to be screened for mutations. Finally, novel therapeutic approaches to treat patients with BRCA1 and BRCA2 germ line mutations, including cross-linking agents and PARP inhibitors, are discussed.
journal_name
J Clin Patholjournal_title
Journal of clinical pathologyauthors
Tan DS,Marchiò C,Reis-Filho JSdoi
10.1136/jcp.2008.057950subject
Has Abstractpub_date
2008-10-01 00:00:00pages
1073-82issue
10eissn
0021-9746issn
1472-4146pii
jcp.2008.057950journal_volume
61pub_type
杂志文章,评审abstract::An outbreak of rotavirus infection in elderly patients in a long-stay ward of a geriatric hospital is described. Virus was detected in 7/15 (47%) symptomatic individuals. Four members of staff were among those affected. The findings emphasise the need for electron microscopy to be used in the initial investigation of ...
journal_title:Journal of clinical pathology
pub_type: 杂志文章
doi:10.1136/jcp.33.3.306
更新日期:1980-03-01 00:00:00
abstract::Three cases of islet cell necrosis in neonates are reported. The association of this rare condition with antepartum haemorrhage, anoxia, shock and intravascular coagulation are discussed. The clinical and morphological appearances were compared with previous descriptions of this condition and an association with neona...
journal_title:Journal of clinical pathology
pub_type: 杂志文章
doi:10.1136/jcp.40.10.1206
更新日期:1987-10-01 00:00:00
abstract:BACKGROUND:Some uterine endometrioid adenocarcinomas exhibit a distinctive morphological phenotype characterised by the formation of microcystic, elongated and fragmented (MELF) glands. Immunohistochemical studies have suggested that MELF-type changes represent an epithelial-mesenchymal transition which has been associ...
journal_title:Journal of clinical pathology
pub_type: 杂志文章
doi:10.1136/jcp.2009.069500
更新日期:2010-07-01 00:00:00
abstract::As part of a wider survey of infections and defence mechanisms, concentrations of serum immunoglobulins IgG, IgA, and IgM were measured regularly by single radial immunodiffusion in a group of children receiving treatment for acute lymphoblastic leukaemia while in their first remission. IgM concentrations were often m...
journal_title:Journal of clinical pathology
pub_type: 杂志文章
doi:10.1136/jcp.34.5.479
更新日期:1981-05-01 00:00:00
abstract::The usefulness of placental alkaline phosphatase (PLAP) as a diagnostic marker of malignancy was assessed in pleural fluid from 60 patients with effusions. Pleural fluid PLAP activities were measured by an enzyme linked immunoassay (ELISA) using the two monoclonal antibodies H17E2 and H317. Similar values were found i...
journal_title:Journal of clinical pathology
pub_type: 杂志文章
doi:10.1136/jcp.45.12.1114
更新日期:1992-12-01 00:00:00
abstract::This study describes a simple whole cell agglutination test for tuberculosis in which phenol-killed Mycobacterium tuberculosis H37Ra is used as the antigen. The test gave positive results in 59 of 63 culture-positive cases of tuberculosis due to M. tuberculosis, and in 4 of 11 culture-positive cases due to other mycob...
journal_title:Journal of clinical pathology
pub_type: 杂志文章
doi:10.1136/jcp.28.11.850
更新日期:1975-11-01 00:00:00
abstract:AIMS:Congenital neutropenia (CN) is a rare inherited disease that results in recurrent, life-threatening bacterial infections due to a deficiency of mature neutrophils. They are usually caused by heterozygous ELANE mutations although mutations in other genes like HAX-1, G6PC3 and GFI1 have also been reported. Identifyi...
journal_title:Journal of clinical pathology
pub_type: 杂志文章
doi:10.1136/jclinpath-2019-206306
更新日期:2020-06-01 00:00:00
abstract::A case of a 20 year old Japanese woman who developed thyroid cancer exhibiting unusual cribriform structures while being followed up for familial adenomatous polyposis/Gardner's syndrome is reported. The patient presented with osteomas, pigmented retinal lesions, and adenomas of the duodenum and the papilla of Vater, ...
journal_title:Journal of clinical pathology
pub_type: 杂志文章
doi:10.1136/jcp.49.7.611
更新日期:1996-07-01 00:00:00
abstract::A 60 year old woman affected by Hashimoto's thyroiditis presented with a history of recurring episodes of urticaria and angio-oedema. Clinical and laboratory evaluation of the patient excluded allergy to external agents, hereditary angio-oedema, and occult infections. A pathogenic relation between Hashimoto's thyroidi...
journal_title:Journal of clinical pathology
pub_type: 杂志文章
doi:10.1136/jcp.50.3.254
更新日期:1997-03-01 00:00:00
abstract::The prevalence of lymphoid follicles in endoscopic biopsy specimens from normal antral mucosa (n = 220), mucosa with reflux gastritis (n = 104), and in cases with Campylobacter pylori-associated gastritis (n = 2544) was studied. In the latter group whether there were associations between degree and activity of gastrit...
journal_title:Journal of clinical pathology
pub_type: 杂志文章
doi:10.1136/jcp.42.12.1269
更新日期:1989-12-01 00:00:00
abstract:AIMS:Most benign breast fibroepithelial lesions (FEL) in adults harbour recurrent somatic MED12 exon 2 mutations and rare TERT promoter hotspot mutations. We sought to determine the frequency of MED12 exon 2 and TERT promoter hotspot mutations in fibroadenomas (FA) and benign phyllodes tumours (BePT) in adolescents and...
journal_title:Journal of clinical pathology
pub_type: 杂志文章
doi:10.1136/jclinpath-2018-205570
更新日期:2019-03-01 00:00:00
abstract::Fifty-three breast carcinomas were examined by an indirect immunoperoxidase technique for the presence of the alpha-subunit of human chorionic gonadotrophin. Positive staining occurred in 12 (22.6%). There was no correlation between alpha-subunit production and specific histological features, but production was relate...
journal_title:Journal of clinical pathology
pub_type: 杂志文章
doi:10.1136/jcp.31.3.245
更新日期:1978-03-01 00:00:00
abstract:INTRODUCTION:Cellular blue naevi (CBN) measure 1-2 cm in diameter and affect the dermis, occasionally extending into the subcutaneous fat. The case of a 14-year-old boy with a giant CBN (GCBN) involving the right half of the face, the jugal mucosa and the lower eyelid with a tumour that had infiltrated the bone and the...
journal_title:Journal of clinical pathology
pub_type: 杂志文章
doi:10.1136/jcp.2005.029488
更新日期:2007-01-01 00:00:00
abstract:AIM:The earlier detection of breast cancer through mammographic screening has resulted in a shift in stage distribution with patients who are node-positive tending to present with a lower number of positive lymph nodes (LN). This study aims to assess the prognostic value of absolute number of positive nodes in the pN1 ...
journal_title:Journal of clinical pathology
pub_type: 杂志文章
doi:10.1136/jclinpath-2012-200755
更新日期:2012-07-01 00:00:00
abstract:AIMS:This cross-sectional study investigated the association between eight herpesviruses and the bacterial community profiles from the oral cavity of children with and without leukaemia. METHODS:Sixty participants (aged 3-13), divided into the leukaemia group (LG) and healthy group (HG), were evaluated. Collection of ...
journal_title:Journal of clinical pathology
pub_type: 杂志文章
doi:10.1136/jclinpath-2014-202668
更新日期:2015-03-01 00:00:00
abstract::Eight strains of Pseudomonas putrefaciens have been received from among 466 strains of Pseudomonas submitted to the Computer Trials Laboratory for identification over the last eight years. Two of the strains of P. putrefaciens from patients with otitis media and otitis externa respectively appear to have played a path...
journal_title:Journal of clinical pathology
pub_type: 杂志文章
doi:10.1136/jcp.28.2.149
更新日期:1975-02-01 00:00:00
abstract:BACKGROUND:The Wnt pathway is important in cell signalling transduction and is involved in the pathogenesis of multiple tumour types. A comprehensive analysis of the expression of Wnt signalling pathway proteins in mammary phyllodes tumours (PTs) has not been previously performed. AIMS:To evaluate the immunohistochemi...
journal_title:Journal of clinical pathology
pub_type: 杂志文章
doi:10.1136/jcp.2009.066977
更新日期:2009-11-01 00:00:00
abstract:AIM:To determine whether the pattern of involvement of the gastric mucosa in lymphocytic gastritis is predictive of the presence or absence of duodenal pathology. METHODS:50 cases (M:F, 26:24; median age 57 years) diagnosed as lymphocytic gastritis between 1986 and 1998 with concurrent duodenal (D2) biopsies were iden...
journal_title:Journal of clinical pathology
pub_type: 杂志文章
doi:10.1136/jcp.52.11.815
更新日期:1999-11-01 00:00:00
abstract:AIMS:To investigate proliferative activity in leukaemic and lymphomatous bone marrow infiltrates and to assess the feasibility of transport of specimens among institutions. METHODS:Proliferative activity in bone marrow trephine cryosections from 99 patients with non-Hodgkin's lymphoma (NHL), 23 patients with acute mye...
journal_title:Journal of clinical pathology
pub_type: 杂志文章
doi:10.1136/jcp.47.3.209
更新日期:1994-03-01 00:00:00
abstract::The coronavirus disease 2019 (COVID-19) is a zoonotic viral infection originating from Wuhan, China in December 2019. The World Health Organization has classified this pandemic as a global health emergency due to its virulent nature of transmission, which may lead to acute respiratory distress syndrome. Singapore's he...
journal_title:Journal of clinical pathology
pub_type: 杂志文章
doi:10.1136/jclinpath-2020-206563
更新日期:2020-03-20 00:00:00
abstract::Preoperative (neoadjuvant) chemoradiation therapy/treatment (NCRT) is emerging as an important treatment modality in borderline resectable pancreatic ductal adenocarcinoma (PDAC). The constellation of histopathological changes secondary to chemoradiation is diverse and has been well documented, particularly in other g...
journal_title:Journal of clinical pathology
pub_type: 杂志文章,评审
doi:10.1136/jclinpath-2016-203604
更新日期:2016-06-01 00:00:00
abstract::Cyclospora cayetanensis is a cause of prolonged diarrhoea, mainly in travellers. Laboratory diagnosis may be achieved by a number of methods such as the staining of faecal smears by the modified Ziehl-Neelsen (ZN) technique. Safer methods using this technique have been described for the staining of acid fast bacilli a...
journal_title:Journal of clinical pathology
pub_type: 杂志文章
doi:10.1136/jcp.49.6.511
更新日期:1996-06-01 00:00:00
abstract:BACKGROUND:Autoreactive humoral and cellular immune responses may be involved in the pathogenesis of idiopathic dilated cardiomyopathy (IDC). Certain human leucocyte antigens (HLA) could also be linked to the development of IDC. AIM:To determine whether various markers of autoimmunity are present in the final phase of...
journal_title:Journal of clinical pathology
pub_type: 杂志文章
doi:10.1136/jcp.52.10.739
更新日期:1999-10-01 00:00:00
abstract::Plasma fibronectin concentrations up to 85 mg/100 ml were found in hyperthyroid patients. There was a significant correlation between free thyroxine index and plasma fibronectin values. Hypothyroid patients had low to normal fibronectin concentrations. Parallel decreases of thyroid hormones and plasma fibronectin conc...
journal_title:Journal of clinical pathology
pub_type: 杂志文章
doi:10.1136/jcp.38.1.64
更新日期:1985-01-01 00:00:00
abstract::Mixed lymphocyte reactions (MLRs) were measured in 25 HLA-A, B and DR compatible sibling bone marrow transplants. Only four of 25 MLRs were positive and in these the low reactivity was of doubtful clinical importance. There was no correlation between MLR and the subsequent development or severity of graft versus host ...
journal_title:Journal of clinical pathology
pub_type: 杂志文章
doi:10.1136/jcp.41.11.1155
更新日期:1988-11-01 00:00:00
abstract::The sensitivity patterns to a number of antibiotic-impregnated discs of 126 strains of Gram-negative anaerobes and 36 strains of Gram-positive non-sporing anaerobes from various sources have been examined. The sensitivity patterns shown by Bacteroids fragilis and Bacteroides melaninogenicus were useful for the rapid i...
journal_title:Journal of clinical pathology
pub_type: 杂志文章
doi:10.1136/jcp.28.5.388
更新日期:1975-05-01 00:00:00
abstract:AIMS:To study the oesophageal histological changes in long term users of non-steroidal anti-inflammatory drugs (NSAIDs) compared with patients not receiving these drugs. METHODS:Ninety eight patients were studied, 53 of whom had taken NSAIDs for three years; 45 had not. Oesophageal biopsy specimens were taken from hea...
journal_title:Journal of clinical pathology
pub_type: 杂志文章
doi:10.1136/jcp.47.8.705
更新日期:1994-08-01 00:00:00
abstract::A method for the neutron activation analysis of copper in biological material is described and applied to the diagnosis and management of four cases of Wilson's disease. Results obtained for serum and urine are in agreement with values obtained by established colorimetric techniques. The method described can estimate ...
journal_title:Journal of clinical pathology
pub_type: 杂志文章
doi:10.1136/jcp.21.1.8
更新日期:1968-01-01 00:00:00
abstract:OBJECTIVE:Despite advances in therapy, lung cancer is still the leading cause of cancer-related mortality in the world. Further prognostic tools are warranted for risk-adapted therapeutic decisions. We analysed a cohort of primary surgically treated non-small cell lung cancers (NSCLCs) to determine the prognostic role ...
journal_title:Journal of clinical pathology
pub_type: 杂志文章
doi:10.1136/jclinpath-2014-202819
更新日期:2015-05-01 00:00:00
abstract::Dilated cardiomyopathy (DCM) represents a common genetic cause of mechanical and/or electrical dysfunction leading to heart failure (HF) onset for which truncating variants in titin (TTN) gene result in the most frequent mutations. Moreover, myocyte and endothelial cell apoptosis is a key endophenotype underlying card...
journal_title:Journal of clinical pathology
pub_type: 杂志文章,评审
doi:10.1136/jclinpath-2019-206404
更新日期:2020-09-01 00:00:00