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BRCA2 Haploinsufficiency.pdf

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Preview of BRCA2 Haploinsufficiency
🔗 Source: ncbi.nlm.nih.gov
📊 Size: 6.37 MB
📄 Pages: 10 pages
⬇️ Downloads: 145

Summary

Women with heterozygous germline BRCA2 mutations have a 50-80% risk of developing breast cancer, but the pathogenesis is poorly understood. Single-cell whole-genome sequencing of non-cancerous breast tissues from BRCA2 mutation carriers shows that over 25% of luminal progenitor cells exhibit sub-chromosomal copy number variations, which are rare in non-carriers. These cells also exhibit DNA damage, attenuated replication checkpoint and apoptotic responses, and age-associated expansion of the luminal progenitor compartment, suggesting BRCA2 haploinsufficiency and associated DNA damage precede histologic abnormalities in vivo.

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Description

Women with heterozygous germline BRCA2 mutations have a 50-80% risk of developing breast cancer, but the pathogenesis is poorly understood.

Technical Information

  • File Format: PDF
  • File Size: 6.37 MB
  • Pages: 10
  • Language: EN
  • Total Downloads: 145
  • Last Updated: 3 weeks ago

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This PDF document about BRCA2 Haploinsufficiency provides comprehensive information and guidance. Whether you're a beginner or advanced user, this resource offers valuable insights into BRCA2 Haploinsufficiency.

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