Article Abstract:
Research relating to the frequency and carrier risk coming with common BRCA1 and BRCA2 genetic mutations has been carried out in 268 Ashkenazi Jewish women who are breast cancer patients. Lifetime risk is estimated to be as high as 85% for those who carry BRCA1 or BRCA2 mutations. Results are markedly different from previous estimates based on families at high risk for breast cancer. Lifetime risk for breast cancer in Ashkenazi Jewish carriers of the BRCA1 185 delAG or BRCA2 6174delT mutations was found to be 36%, about three times that for the general population.
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Article Abstract:
A hypothesis is presented that hotspots of loss of heterozygosity or allelic imbalance within the tumor stroma of BRCA1/2-related breast cancers provide an impaired mammary stroma that could facilitate later malignant transformation of the breast epithelium. The data indicates, that in hereditary breast/ovarian cancer syndrome (HBOC)-related breast cancers, the accumulation of genomic instability in the cancer stroma coincides with that in the neoplastic epithelium.
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Article Abstract:
A germ-line mutation of PTEN can be considered a molecular diagnostic sign of Cowden syndrome or Bannayan-Ruvalcaba-Riley syndrome. Absence of an identified PTEN mutation is nondiagnostic, however. A comprehensive molecular classification for the inherited hamartoma polyposis syndromes is not yet available, as juvenile polyposis syndrome and Peutz-Jeghers syndrome cannot be classified by molecular analysis.
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