RESUMO
INTRODUCTION: The aim of this study was to collect serial samples of nipple aspirate (NA) and ductal lavage (DL) fluid from women with germline BRCA1/2 mutations in order to create a biorepository for use in identifying biomarkers of breast cancer risk. METHODS: Between March 2003 and February 2005, 52 women with germline BRCA1 or BRCA2 mutations (median age 43 years, range 27 to 65 years) were scheduled for six-monthly NA, DL and venesection. DL was attempted for all NA fluid-yielding (FY) and any non-FY ducts that could be located at each visit. RESULTS: Twenty-seven (52%) women were postmenopausal, predominantly (19/27) from risk reducing bilateral salpingo-oophorectomy (BSO). FY ducts were identified in 60% of all women, 76% of premenopausal women versus 44% of postmenopausal (P = 0.026). Eighty-five percent of women had successful DL. Success was most likely in women with FY ducts (FY 94% versus non-FY 71% (P = 0.049). DL samples were more likely to be cellular if collected from FY ducts (FY 68% versus non-FY 43%; P = 0.037). Total cell counts were associated with FY status (FY median cell count 30,996, range 0 to >1,000,000 versus non-FY median cell count 0, range 0 to 173,577; P = 0.002). Four women (8%) had ducts with severe atypia with or without additional ducts with mild epithelial atypia; seven others had ducts with mild atypia alone (11/52 (21%) in total). Median total cell count was greater from ducts with atypia (105,870, range 1920 to >1,000,000) than those with no atypia (174, 0 to >1,000,000; P Assuntos
Biomarcadores Tumorais/análise
, Neoplasias da Mama/genética
, Genes BRCA1
, Genes BRCA2
, Predisposição Genética para Doença
, Mutação em Linhagem Germinativa
, Adulto
, Idoso
, Biópsia por Agulha
, Líquidos Corporais/química
, Líquidos Corporais/citologia
, Neoplasias da Mama/patologia
, Feminino
, Humanos
, Glândulas Mamárias Humanas/química
, Glândulas Mamárias Humanas/citologia
, Pessoa de Meia-Idade
, Mamilos
, Manejo de Espécimes
, Irrigação Terapêutica
, Bancos de Tecidos
RESUMO
Chlamydia-related disease has a detrimental effect on Australia's free-range koala (Phascolarctos cinereus) populations. The chlamydial species responsible for ocular, urogenital and respiratory disease in the koala have previously been identified as Chlamydophila pecorum and Chlamydophila pneumoniae. Epizootiology studies have therefore used species specific PCR assays to detect chlamydial infections. In the current study, we used a broad range PCR amplification and cloning strategy to identify all strains of Chlamydiales in the koala. Sequencing of 16S rRNA gene PCR products, cloned from Chlamydiales--order positive swab samples identified nine novel koala Chlamydiales genotypes, including multiple novel chlamydial genotypes present in a single sample. The novel koala genotypes are clustered together with other Chlamydia-like bacteria within a second lineage separate from the known Chlamydiaceae species. Two new primer sets UKC-A and UKC-B were designed to detect five of the nine novel Chlamydiales and were applied to swab samples collected from two wild koala populations. Using these new UKC PCR assays, UKC-A type Chlamydiales sequences were more prevalent (72%; 18/25) compared to UKC-B (24%; 6/25). UKC sequences were most commonly found as dual infections with C. pecorum. This report provides the first description of additional members of the order Chlamydiales infecting the koala.