Germ line BRCA1 and BRCA2 gene mutations in Turkish breast cancer patients

Cataloged from PDF version of article.Germ line BRCA1 and/or BRCA2 mutations were screened in 50 Turkish breast and/or ovarian cancer patients composed of hereditary, familial, early onset and male cancer groups. Genomic DNA samples were tested by heteroduplex analysis and DNA sequencing. Two truncating BRCA2 mutations, one novel (6880 insG) and one previously reported (3034 delAAAC), were found in two out of six (33%) hereditary breast and/or ovarian cancer patients. A novel truncating (1200 insA) and a missense (2080A→G) BRCA1 mutation was found in two of 27 (7%) individuals in the early onset group. A total of four (8%) disease-causing mutations in 50 breast cancer patients were identified in BRCA1 and BRCA2 genes. In addition, five BRCA1 sequence variants have been identified in 23 patients. These results indicate that BRCA1 and BRCA2 genes are involved in some, but not all, forms of hereditary predisposition to breast cancer in the Turkish population. Copyright (C) 2000

BRCA1 and BRCA2 mutations in Turkish breast/ovarian families and young breast cancer patients

To date, BRCA1 and BRCA2 mutations in breast and/or ovarian patients have not been characterized in the Turkish population. We investigated the presence of BRCA mutations in 53 individuals with a personal and family history of breast and/or ovarian cancer, and 52 individuals with a personal history of breast cancer diagnosed below age 50 without additional family history. We have identified 11 mutations (nine BRCA1 and two BRCA2) using combined techniques involving protein truncation test, direct sequencing and heteroduplex analysis. We found eight out of 53 patients (15.1%) with a family history to carry BRCA gene mutations (seven BRCA1 and one BRCA2). Of these, four were found in 43 families presenting only breast cancer histories, and four were found in families presenting ovarian cancer with or without breast cancer. We also demonstrated two BRCA1 and one BRCA2 mutations in three out of 52 (5.8%) early-onset breast cancer cases without additional family history. Three of nine BRCA1 and both BRCA2 mutations detected in this study were not reported previously. These mutations may be specific to the Turkish population. The BRCA1 5382insC mutation, specific to Ashkenazi and Russian populations, was found twice in our study group, representing a possible founder mutation in the Turkish population. © 2000 Cancer Research Campaig

Laparoscopic versus Open Appendectomy: Where Are We Now?

Rezumat Apendicectomia prin abord laparoscopic versus abord deschis: pentru ce optãm? Scop: Deaei avantajele procedurilor laparoscopice au fost intens studiate pe parcursul ultimelor douã decenii, apendicectomia laparoscopicã nu a putut fi desemnatã ca procedurã standard de tratament din cauza unor dezavantaje de tipul timpilor operatori aei al costurilor crescute. Obiectivul studiului nostru este de a reevalua rezultatele pe termen lung ale abordului laparoscopic versus cel chirurgical deschis pentru aceastã patologie pe baza datelor actuale. Metode: Datele pacienåilor supuaei apendicectomiei între ianuarie 2012 aei iulie 2012 au fost analizate prospectiv. Datele demografice ale pacienåilor, durata procedurii, perioada de internare, nevoia de analgezice, scorul VAS aei rata mortalitãåii au fost înregistrate. Rezultate: Din 241 de pacienåi, 120 (49.8%) au suferit intervenåie deschisã aei 121 (50.2%) au fost operaåi laparoscopic. Perioada intervenåiei a fost similarã între cele douã grupuri (p=0.855). Scorurile VAS dupã prima orã (p=0.001), dupã 6 (p=0.001) aei dupã 12 ore de la operaåie (p=0.028) au fost mai mari în grupul de apendicectomii prin abord deschis (p=0.001). Nu au existat diferenåe statistice vizând ratele de morbiditate între grupul prin abord deschis aei cel prin abord laparoscopic (p=0.617). Concluzii: Cele douã tehnici operatorii sunt similare în ceea ce priveaete perioada de internare, durata operaåiei aei complicaåiile postoperatorii. Apendicectomia laparoscopicã reduce nevoia de analgezice aei scorurile VAS; aceasta ar trebui prin urmare luatã în considerare ca standard de aur în tratamentul chirurgical al apendicitei acute. Cuvinte cheie: apendicitã, apendicectomie, procedurã laparoscopicã, abces abdominal, infecåia plãgii chirurgicale Abstract Purpose: Although the advantages of laparoscopic procedures has been well studied over the last two decade, laparoscopic appendectomy could not to be a standard therapy due to some disadvantages such as longer operative time and higher cost. The objective of our study is to re-evaluate the outcomes of laparoscopic versus open appendectomy with current data. Methods: Between January 2012 and July 2012, the data of the patients who had appendectomy were recorded prospectively. Patients' demographics, duration of procedure, length of hospital stay, need of analgesics, postoperative visual analogue scale scores and morbidity were assessed

Male breast cancer: a retrospective study of 15 years

Purpose: To retrospectively evaluate the 15-year experience with breast cancer in males at a single institution

Breast conserving surgery in patients with multifocal/multicentric breast cancer

Purpose: To retrospectively evaluate the outcome of patients with multifocal (MF) and multicentric (MC) breast cancer treated with conservative surger

<i>TWIST1</i> Gene Expression as a Biomarker for Predicting Primary Doxorubicin Resistance in Breast Cancer.

Doxorubicin is one of the most commonly used chemotherapeutic agents for adjuvant chemotherapy of breast cancer. In the studies focused on finding biomarkers to predict the response of the patients and tumors to the drugs used, the Twist transcription factor has been suggested as a candidate biomarker for predicting chemo-resistance of breast tumors. In this study, we aimed to investigate the relationship between TWIST transcription factor expression and the effectiveness of doxorubicin treatment on directly taken primary tumor samples from chemotherapy-naive breast cancer patients. Twenty-six primary breast tumor samples taken from 26 different breast cancer patients were included in this study. Adenosine triphosphate tumor chemo-sensitivity assay (ATP-TCA) has been used to determine tumor response to doxorubicin and real-time reverse-transcription polymerase chain reaction (RT-PCR) was used for analyzing the TWIST1 gene expression of tumors. There was a significant difference in TWIST gene expression between responder and non responder tumors (p <0.05). The TWIST gene expression of the drug-resistant group was higher than the responsive group. This difference was not dependent on the histopathological features of tumors. In conclusion, compatible with earlier studies that have been performed with cell lines, the current study supports the role of higher TWIST gene expression as a biomarker for predicting the response of breast tumors to chemo-therapeutic agent doxorubicin