نتایج جستجو برای: brca genes

تعداد نتایج: 428134  

Journal: :JOP : Journal of the pancreas 2012
Richard Kim Jenifer Byer Muhammad Wasif Saif

Germline mutations in BRCA genes are associated with increased risk of pancreatic cancer. There are pre clinical data which suggests that DNA cross linking agents should be used in pancreatic cancer patients with BRCA mutations. This review is an update from the 2012 American Society of Clinical Oncology (ASCO) Gastrointestinal Cancers Symposium regarding recent developments in the treatment of...

Journal: :Anticancer research 2014
Franco Muggia Tamar Safra

Gynecological carcinomas are major therapeutic targets of platinum-containing regimens. They may be particularly susceptible to these agents if their origins are related to hereditary breast cancer (BRCA) mutations; this implicates defective DNA repair secondary to inherited alterations in BRCA function. The concept of 'BRCAness' was introduced by Ashworth and colleagues in order to identify ph...

2007
Mirjana Branković-Magić Jelena Dobričić Radmila Janković Irene Konstantopoulou Drakoulis Yannoukakos Siniša Radulović

About 90% of all breast cancers can be considered as sporadic, without inherited gene alteration. The rest of breast cancers (about 5 to 10%) are considered hereditary, most commonly caused by alterations of BRCA1/2 tumor suppressor genes. Lifetime risks for breast and ovarian cancers are increased among BRCA1/2 mutation carriers – 4 to 8 and 10 to 20 fold higher respectively. Due to the small ...

Journal: :Endocrine-related cancer 2012
Jonathan G Bijron Petra van der Groep Eleonora B van Dorst Laura M S Seeber Daisy M D S Sie-Go René H M Verheijen Paul J van Diest

BRCA1/2 germ line mutation carriers have a high risk of developing fallopian tube carcinoma (FTC), thought to occur through different early (p53 signatures) and later (dysplasia, intra-epithelial carcinoma) premalignant stages. Promoter hypermethylation of tumour suppressor genes is known to play a key role in (early) carcinogenesis. However, little is known about methylation in normal and (pre...

2017
Yi Li Yongsheng Wang

Gene expression data were analyzed in order to identify critical genes in breast invasive carcinoma (BRCA). Data from 1,073 BRCA samples and 99 normal samples were analyzed, which were obtained from The Cancer Genome Atlas. Differentially expressed genes (DEGs) were identified using the significance analysis of microarrays method and a functional enrichment analysis was performed using the Data...

2009
Ingrid Petroni Ewald Patricia Lisboa Izetti Ribeiro Edenir Inêz Palmero Silvia Liliana Cossio Roberto Giugliani Patricia Ashton-Prolla

Women with mutations in the breast cancer genes BRCA1 or BRCA2 have an increased lifetime risk of developing breast, ovarian and other BRCA-associated cancers. However, the number of detected germline mutations in families with hereditary breast and ovarian cancer (HBOC) syndrome is lower than expected based upon genetic linkage data. Undetected deleterious mutations in the BRCA genes in some h...

Journal: :international journal of molecular and cellular medicine 0
atieh zorrieh zahra genetics research center-university of social welfare and rehabilitation sciences, tehran, iran. sepideh kadkhoda genetics research center-university of social welfare and rehabilitation sciences, tehran, iran. behjati farkhondeh genetics research center-university of social welfare and rehabilitation sciences, tehran, iran. fatemeh aghakhani moghaddam genetics research center-university of social welfare and rehabilitation sciences, tehran, iran. azadeh badiei genetics research center-university of social welfare and rehabilitation sciences, tehran, iran. fereidoon sirati cancer institute- department of surgery- tehran university of medical sciences, tehran, iran.

male breast cancer is a rare disease with an increasing trend. due to limited information especially about the genetic basis of the disease in iran and the lower age of its onset, the disease requires more attention. the aim of this study was to screen the male patients with breast cancer for brca mutations as well as tissue markers of estrogen receptor (er), progesterone receptor (pr), human e...

2012
Ademola Lukman Adelekan Elizabeth Ronami Edoni

Women with Family History (FH) of Breast Cancer (BRCA) in first-degree relative have a relative risk >4 due to inherited genetic mutation genes. This study therefore assessed knowledge and practices of BRCA prevention among women with FH of BRCA in the study area. This is a cross-sectional study. Snowball sampling technique was used to select 189 women with FH of BRCA. A semi-structured questio...

Journal: :Human mutation 2016
Christophe Béroud Stanley I Letovsky Corey D Braastad Sandrine M Caputo Olivia Beaudoux Yves Jean Bignon Brigitte Bressac-De Paillerets Myriam Bronner Crystal M Buell Gwenaëlle Collod-Béroud Florence Coulet Nicolas Derive Christina Divincenzo Christopher D Elzinga Céline Garrec Claude Houdayer Izabela Karbassi Sarab Lizard Angela Love Danièle Muller Narasimhan Nagan Camille R Nery Ghadi Rai Françoise Revillion David Salgado Nicolas Sévenet Olga Sinilnikova Hagay Sobol Dominique Stoppa-Lyonnet Christine Toulas Edwin Trautman Dominique Vaur Paul Vilquin Katelyn S Weymouth Alecia Willis Marcia Eisenberg Charles M Strom

As next-generation sequencing increases access to human genetic variation, the challenge of determining clinical significance of variants becomes ever more acute. Germline variants in the BRCA1 and BRCA2 genes can confer substantial lifetime risk of breast and ovarian cancer. Assessment of variant pathogenicity is a vital part of clinical genetic testing for these genes. A database of clinical ...

Journal: :Molecular carcinogenesis 2015
Andreas J Papoutsis Ornella I Selmin Jamie L Borg Donato F Romagnolo

Studies with murine models suggest that maternal exposure to aromatic hydrocarbon receptor (AhR) agonists may impair mammary gland differentiation and increase the susceptibility to mammary carcinogenesis in offspring. However, the molecular mechanisms responsible for these perturbations remain largely unknown. Previously, we reported that the AhR agonists 2,3,7,8-tetrachlorodibenzo-p-dioxin (T...

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