Breast cancers associated mutations

A U.S. study found no association between overall breast cancer and current or past OC use. Although some studies have found differences in risk of breast cancer based on the presence of BRCA1 and BRCA2 mutations, the most recent cohort study found no association with low-dose OCs and the presence of either mutation. 

Based on this concept of correlation between high replication rate/high persistent mutation risk, Pike et al. (1983) formulated the hypothesis of breast tissue age and developed a mathematical model to predict the effects of exposure to ovarian hormones. This model incorporates reproductive and endocrine items related to breast cancer and is able to predict the relative risk of individual situations with results that are very close to those observed in clinical trials. According to this hypothesis, both the years of exposure and the circulating serum levels of estrogens are associated to short-term breast cancer risk in postmenopausal women (Toniolo et al. 1995). 

Altmannsberger M, Dirk T, Droese M, Weber K, Osborn M (1986) Keratin polypeptide distribu tion in benign and malignant breast tumors subdivision of ductal carcinomas using monoclo nal antibodies. Virchows Arch B Cell Pathol Incl Mol Pathol 51(3) 265 275 Assefnia S, Jones LP, Torre KM, Furth PA (2006) Expression of p63 in a mouse model of Brcal mutation related breast cancer. Poster presented at the Annual Meeting of the American Association for Cancer Research, Washington, DC (Meeting Abstracts)... 

Gaythee, S. a., et al., Variation of risks of breast and ovarian cancer associated with different germline mutations of the BRCA2 gene. Nat Genet, 1997, 15(1), 103-5. 

The molecular interactions between PTEN and FAK were studied in glioblastoma and breast cancer cells lacking PTEN. The PTEN trapping mutant bound wild-type FAK, requiring FAK autophosphorylation site Tyr397. In PTEN-mutated cancer cells, FAK phosphorylation was retained even in suspension after detachment from extracellular matrix, accompanied by enhanced PI3-K association with FAK and sustained PI3-K activity. PTEN-mutated cells were resistant to apoptosis in suspension, but most of the cells entered apoptosis after expression of exogenous PTEN or... 

BRCAl and BRCA2 are frequently mutated in a variety of human cancers. Breast cancer is the most common malignancy in women. A total of more than a million women will be diagnosed with breast cancer worldwide with more than 400,000 deaths annually. The germ line mutations of BRCAl/2 are associated with hereditary breast cancer which account for 5-7% of all breast cancer cases (12, 13). Ovarian cancer is the leading cause of death from gynecological cancer with more than 140,000 deaths annually worldwide. The germ line and somatic BRCAl/2 mutations have been reported to occur in approximately 10% of ovarian cancer patients (14, 15). BRCAl/2 mutations have also been shown to occur frequently in Ashkenazi Jewish families with pancreatic cancer (16). 

Kalemi TG, Lambropoulos AF, Gueorguiev M et al (2005) The association of p53 mutations and p53 codon 72, Her 2 codon 655 and MTHFR C677T polymorphisms with breast cancer in Northern Greece. Cancer Lett 222 57-65... 

Chapters 11 and 31. Since cancers contain multiple mutations, they are complex diseases. However, many specific susceptibility loci are being located, including some for breast cancer (Box 11-D),392 prostate cancer,393 and familial adenomatous polyposis, a hereditary disease leading to colon cancer.388 394 Cancer has long been known to be associated with chromosome instability including deletion and insertion mutations at simple repeat sequences, frame-shift mutations,395 DNA breakage, translocation,396 and losses or gains of whole chromosomes 397... 

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