Editorial - A decade of discovery of BRCA1 and BRCA2: Are we turning\nthe tide against hereditary breast cancers?
Year: 2007
Type: editorial
Abstract: A decade of discovery of BRCA1 and BRCA2: Are we turning the tide against hereditary breast cancers?Hereditary cancer accounts for 3-5% of all breast geo-ethnic variations in the frequency and spectrum cancers and a greater proportion of ovarian cancers.of BRCA1/2 mutations were reported and several However by virtue of breast cancer being so founder mutations in the Ashkenazi Jewish, Icelandic prevalent, every year tens of thousands of women and some other populations have now been worldwide develop breast or ovarian cancer due to identified.Recently some novel germline BRCA1/2 inherited predisposition.In addition, hundreds of mutations have been reported in breast cancer thousands of healthy women worldwide are likely patients from India, Iran, Pakistan and several other to be harbouring germline mutations in breast Asian geo-ethnic groups.There are different cancer predisposing genes, which carry a 50-80% methods of screening for mutations in these two life-time risk of developing these cancers.This large genes, each with different sensitivity and underscores the need for understanding the specificity and the mutation should be confirmed biological basis of this condition and to develop with direct sequencing.However all sequence effective strategies for prevention, early detection variations in BRCA1/2 may not be pathogenic -some and better management of hereditary breast cancer.being well-characterized, harmless polymorphism In the early nineties when the 1 st Breast Cancer gene and others of unknown significance.In contrast to -termed BRCA1 (Miki et al, Science, 1994) and the 2 nd women of Jewish or other Caucasian descent, the Breast Cancer gene -termed BRCA2 (Wooster et al, relatively much smaller genotype-phenotype Nature, 1995), were identified as the cause of genetic database of women from other ethnic groups makes predisposition in hereditary breast and breast it more difficult to interpret the results of mutation ovarian cancers, it was hailed as a major scientific analysis in these populations.This underscores the discovery.While this discovery had a cascade effect need to establish a comprehensive database of on basic biology and genetics research, the wider pathological mutations and polymorphisms in BRCA1 community of clinicians and oncologists are still and BRCA2 genes in different geo-ethnic groups of unsure of the clinical utility of such genetic testing not only cancer-affected persons with suspected and whether the benefits, if any, would outweigh inherited predisposition but also of their healthy the psycho-social distress associated with genetic controls from the same geo-ethnic groups.testing.The problem was compounded by lack of
Author: Sarin Rajiv
Language: English
Subfield: Genetics
Domain: Life Sciences
Open Access status: green
OpenAlex ID: W7047118983