Frequency and carrier risk associated with common BRCA1 and BRCA2 mutations in Ashkenazi Jewish breast cancer patients

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.

United States, Health aspects, Mutation (Biology), Mutation, Ashkenazim

---

Total-genome analysis of BRCA1/2-related invasive carcinomas of the breast identifies tumor stroma as potential landscaper for neoplastic initiation

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.

Risk factors, BRCA mutations

---

Molecular classification of the inherited hamartoma polyposis syndromes: clearing the muddied waters

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.

Editorial, Genetic disorders, Polyposis, Familial, Familial polyposis, Hamartoma

Similar abstracts:

• Abstracts: Trehalose and sucrose protect both membranes and proteins in intact bacteria during drying. Survival differences among freeze-dried genetically engineered with wild-type bacteria
• Abstracts: DNA deletion associated with hereditary neuropathy withh liability to pressure palsies. Silence of the fathers: Early X inactivation
• Abstracts: Reinforcement of reproductive isolation between adjacent populations on the Part Grass Experiment. Increased heterozygosity and allele variants are seen in Texel compared to Suffolk sheep
• Abstracts: Microbial diversity associated with odor modification for production of fertilizers from chicken litter. Use of pulsed-field gel electrophoresis to link sporadic cases of invasive listeriosis with recalled chocolate milk
• Abstracts: Identifying families with likely genetic protective factors against Alzheimer disease. Promoter mutations that increase amyloid precursor-protein expression are associated with Alzheimer disease

This website is not affiliated with document authors or copyright owners. This page is provided for informational purposes only. Unintentional errors are possible.