Genetics breast cancer

Nauhausen S. Founder populations and their uses for breast cancer genetics. Breast Cancer Res 2000 2 77-81. 

Breast Cancer. Many studies have observed low incidences of hormone-dependent cancers, particularly breast cancer, in Asian countries compared with Western countries and it is becoming increasingly accepted that dietary factors play an important role. Although breast cancer can occur in either males or females, only about 1 % of all cases occur in men, and male breast cancer is a rare disease in all parts of the world." Although there appear to be some similar risk factors for breast cancer in males and females, there is no indication in the literature that diet is either a risk or a protective factor for male breast cancer. The development of breast cancer is known to be highly dependent on the hormones associated with female reproductive functions, while established genetic factors have been... 

The etiology of breast cancer is unknown, but a number of factors that increase a woman s chances of developing the disease have been identified. These risk factors, as well as information regarding the biology of the disease, suggest that a complex interplay between hormones, genetic factors, and environmental and lifestyle influences all contribute to the etiology of this disease. 

Zahropoulos A, Crikas N, Passam AM, Spandidos DA. Significant involvement of CCR2-64I and CCL12-3a in the development of sporadic breast cancer. J Med Genet 2004 41 e59. 

In this chapter we will review the basic aspects of endocrine regulation of breast tissue growth and development. The relationship between genetics, estrogen exposure, and breast cancer risk will be discussed, and preclinical and clinical experience in the use of SERMS for both prevention and adjuvant treatment of ER-positive breast cancer will be reviewed and put in perspective. 

In the field of molecular genetics, several susceptibility genes for breast cancer have been identified. The genes involved in the regulation of development... 

McPherson K, Steel CM, Dixon JM (2000) ABC of breast cancer Epidemiology, risk factors and genetics. Br Med J 321 624-628... 

Without regard to therapy, potentially valuable diagnostic tests are available for presymptomatic evaluation of risk of breast cancer due to predisposition from BRCA 1 or BRCA 2 and of colon cancer related to familial adenomatous polyposis (APC gene) or hereditary nonpolyposis mismatch repair genes (MSH 2). Genetic predisposition to Alzheimer disease associated with ApoE4 is neither sufficient nor necessary to lead to the clinical condition, and no definitive therapy is available. 

For many common diseases, subsets of cases exist in which genetic factors play an especially important role. These subsets tend to develop disease early in life (e.g., BRCAl and BRCA2 mutations in breast cancer), and they often tend to have a more severe expression of the disease (e.g., APC mutations in colon cancer). 

Individuals at risk for developing a genetic disease with a delayed age of onset may wish to learn whether they have inherited a disease-causing mutation (e.g., Huntington disease, femilial breast cancer, hemochromatosis, adenomatous polyposis coli). In some cases, presymptomatic diagnosis can be highly usefiil in preventing serious disease consequences before they occur (e.g., phlebotomy for hemochromatosis, early tumor detection for familial breast cancer). 

Mutation detection — Genetic mutations leading to disease states such as familial breast cancer can be detected by arrays, provided that sufficient gene probe sequence content is available in order to make a statistically significant prognosis. 

Ashworth A, Bernards R (2010) Using functional genetics to understand breast cancer biology. Cold Spring Harb Perspect Biol 2 a003327... 

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