Genomic Vision provides new tools to detect all types of large rearrangements and defines new biomarkers in the

 

Hereditary Breast and Ovarian Cancer

5% to 10% of breast and ovarian cancers are diagnosed as Hereditary Breast and Ovarian Cancer (HBOC)

Breast cancer is the most common malignancy in women worldwide, affecting approximately 10% of the female population.

 

Incidence rates have increased dramatically during the last 50 years and it is estimated that about 1.7 million women will be diagnosed with breast cancer annually worldwide and that about 521,000 will die from this disease.

 

Hereditary Breast and Ovarian Cancer (HBOC) should be considered when there are multiple cases of breast cancer and/or ovarian cancer on the same side of the family.

Germline mutations in the HBOC susceptibility BRCA genes account for up to 20 % of all cases

Mutations in the BRCA1 (breast cancer 1, early onset) and BRCA2 (breast cancer 2, early onset) genes confer a high risk of developing cancer and are responsible for 10 to 20 % of all HBOC cases.

 

Most common mutations are of a small size and consist of point mutations, nonsense/frameshifts (small insertions or deletions), missense mutations in conserved domains, or splice-site mutations resulting in aberrant transcript processing.

 

However, deleterious mutations in the BRCA genes in some high-risk families are due to the presence of large intragenic rearrangements such as deletions, duplications or insertions that span whole exons. These genomic aberrations are responsible for up to one-third of the identifiable BRCA mutations in certain populations.

Conventional diagnostic methods challenged by large rearrangements and repetitive regions occurring in BRCA genes

Structural variations in BRCA genes include not only small alterations, but also complex genome rearrangements that are far more difficult to characterize, even via the most effective technologies.

 The Molecular Combing technology associated with the Genomic Morse Code strategy is able to efficiently detect the full spectrum of large rearrangements, including the often problematic tandem repeat duplications that occur in the flanking regions of the BRCA genes. Only a method that visualizes large genomic regions can overcome these constraints.

Genomic Vision through its specific Genomic Morse Codes brings an accurate solution for the detection and characterization of hard-to-detect mutations occurring in Hereditary Breast and Ovarian Cancer

 

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