The role of the familial cancer clinic (FCC) is to provide a cancer risk assessment and appropriate cancer risk management advice, but there are certain groups of patients for whom there are no standard risk management guidelines. One such group is women with a strong family history of breast cancer but BRCA genetic testing has not found a germline mutation. As a family history of breast cancer...

C ell cycle checkpoint kinase 2 (CHEK2) is a tumour suppressor involved in the p53 pathway of DNA damage responses. Upon ionizing radiation induced DNA damage, CHEK2 is activated by ataxia telangiectasia mutated (ATM) and is in turn capable of phosphorylating several substrates including Cdc25A, Cdc25C, p53, and BRCA1, leading to cell cycle arrest, apoptosis, and DNA repair (reviewed in Bartek ...

background : breast cancer is one of the most frequent malignancies among iranian women. triple-negative breast cancer (tnbc) is referred to a type of breast cancer which three biomarkers of estrogen receptor, progesterone receptor, and human epidermal growth factor receptor 2 (her2), are negative. materials and methods: in this case control study, immunohistopathologic data of patients with tn...

background: inflammatory breast cancer (ibc), a subgroup of locally advanced breast cancer (labc), is diagnosed based on clinical findings, and seems to be different from other types of labc. the purpose of this study was to compare clinicopathological characteristics and outcomes between inflammatory and non-inflammatory labc patients at breast cancer research center (bcrc), tehran, iran. meth...

A substantial proportion of the familial risk of breast cancer may be due to genetic variants, each contributing a small effect. The protein encoded by ERCC2 is a key enzyme involved in nucleotide excision repair, in which gene defects could lead to cancer prone syndromes such as Xeroderma pigmentosum D. We have examined the association between single nucleotide polymorphisms in the ERCC2 gene ...

BACKGROUND Breast cancer is the most common cancer in women worldwide. About 5 to 10% of cases are due to an inherited predisposition in two major genes, BRCA1 and BRCA2, transmitted as an autosomal dominant form. Male breast cancer is rare and is mainly due to BRCA2 than BRCA1 germline mutations. OBJECTIVE Molecular study of BRCA2 gene in man with familial breast cancer. METHODS PCR and di...

To examine DNA methylation profiles in breast tumors of women with a strong breast cancer family history, we measured methylation by bisulfite sequencing in 40 genes in 40 breast tumor tissues from women in the Breast Cancer Family Registry. We selected candidate genes from analysis of the Cancer Genome Atlas project (TCGA) breast data. Compared to TCGA breast cancer, BCFR cases are younger and...

BACKGROUND Germ-line mutations of BRCA1 and BRCA2 genes are responsible for approximately 25-30% of dominantly inherited familial breast cancers; still a big part of genetic component is unknown. The aim of this study was to investigate genetic causes of familial breast cancer in a pedigree with recessive pattern of inheritance. METHODS We applied exome sequencing as a useful approach in hete...

C ell cycle checkpoint kinase 2 (CHEK2) is a tumour suppressor involved in the p53 pathway of DNA damage responses. Upon ionizing radiation induced DNA damage, CHEK2 is activated by ataxia telangiectasia mutated (ATM) and is in turn capable of phosphorylating several substrates including Cdc25A, Cdc25C, p53, and BRCA1, leading to cell cycle arrest, apoptosis, and DNA repair (reviewed in Bartek ...

Introduction: Breast cancer has been the leading cause of in females over last few decades. Familial inheritance breast is proven and investigated deeply. The need day to risk stratify it before actual problem arises standardise process across UK which not yet addressed.
 Objective: objective this study assess efficacy current referrals familial clinics from all sources their impact on nat...