Carcinoma-associated fibroblasts stimulate tumor progression of initiated human epithelium

AF Olumi, GD Grossfeld, SW Hayward, PR Carroll… - Breast Cancer …, 2000 - Springer
AF Olumi, GD Grossfeld, SW Hayward, PR Carroll, GR Cunha, P Hein, TD Tlsty
Breast Cancer Research, 2000Springer
At least partial answers to these questions are now available. There are well-established
methods of identifying mutations, and there are known founder mutations that simplify testing
in some populations. In particular, there are data that suggest that screening all Ashkenazi
Jewish women for the three founder mutations in this group may significantly reduce deaths
from ovarian cancer in this population. Direct sequencing and heteroduplex analysis are
both methods with sensitivity well over 90% for coding region and splice site mutations; …
At least partial answers to these questions are now available. There are well-established methods of identifying mutations, and there are known founder mutations that simplify testing in some populations. In particular, there are data that suggest that screening all Ashkenazi Jewish women for the three founder mutations in this group may significantly reduce deaths from ovarian cancer in this population. Direct sequencing and heteroduplex analysis are both methods with sensitivity well over 90% for coding region and splice site mutations; however, the problem of genomic rearrangements in BRCA1 remains. Variants of uncertain significance remain a problem, particularly in BRCA2, but truncating mutations are clearly associated with a markedly increased risk of breast and ovarian cancer. Perhaps most importantly, recent work is beginning to provide justification for prevention strategies for both breast and ovarian cancer, as well as evidence that genetic testing is well-tolerated psychologically. Finally, most Western countries have addressed the issue of genetic discrimination and offer protection through either nationalized health services or federal legislation. In summary, the past five years have yielded advances in all areas pertaining to genetic susceptibility testing, and the promise of cancer prevention associated with the isolation of BRCA1 and BRCA2 is becoming a reality.
Springer