Assessment of cancer risk based on rnu2 cnv and interplay between rnu2 cnv and brca1

a cancer risk and rnu2 technology, applied in the field of cancer risk assessment based on rnu2 cnv, can solve the problems of increasing the risk of cancer, increasing the risk of breast cancer, and re-increasing the risk of the general population

Inactive Publication Date: 2013-04-04
UNIV CLAUDE BERNARD LYON 1 +3
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  • Abstract
  • Description
  • Claims
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AI Technical Summary

Benefits of technology

The invention relates to methods that help predict how likely an individual will develop certain diseases based on their genetic makeup data. These techniques involve establishing specific values called baseline levels which are representative of risks associated with these conditions such as smoking cigarettes or drink consumption. By comparing those baselines against each other over time it can be possible to identify individuals who may have high chances of developing some type of disease early enough before they become symptoms like lung cancer.

Problems solved by technology

There is evidence suggesting that inherited variants of specific types of DNA cause various health issues including autism spectrum disorders among sibling offspring populations. These modifications include amplification of homozygenetic regions called fragile sites, abnormal cellular behavior during development, tumour formation, carcinogenesis, etceterment into rare forms. Overall, understanding how many copies per person who harbor variant genomes makes us better identify potential sources of germ lineage differences and potentially improve our ability to detect and treat complex conditions caused by inherited factors.

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  • Assessment of cancer risk based on rnu2 cnv and interplay between rnu2 cnv and brca1
  • Assessment of cancer risk based on rnu2 cnv and interplay between rnu2 cnv and brca1
  • Assessment of cancer risk based on rnu2 cnv and interplay between rnu2 cnv and brca1

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[0152]Materials

[0153]Human lymphoblastoid cell lines have been established by Epstein-Barr virus immortalization of blood lymphocytes at the diagnostic laboratory at the Centre Léon Bérard. Lymphoblastoid cells of control individuals (not diagnosed with cancer) were cultivated in RPMI 1640 medium (Sigma-Aldrich), supplemented with 1% penicillin-streptomycin and 20% fetal bovine serum (Invitrogen). Genomic DNA was extracted with the NucleoSpin kit (Macherey-Nagel). The seven individuals analyzed by q-PCR all belong to high-risk families and have a personal history of breast cancer (see Table 1 for age at diagnosis). They have furthermore tested negative in a BRCA1 / BRCA2 diagnosis test aiming at detecting point mutations and genomic rearrangements.

[0154]Two bacterial artificial chromosomes (BACs) containing regions of interest of chromosome 17, have been purchased: RP11-100E5 (Invitrogen) (AC087650 accession number, which corresponds to nt: 41,406,987-41,576,514 of NC—000017.10), conta

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Abstract

Polynucleotides useful for detecting copy number variation of RNU2 sequences and methods of assessing risk of developing breast or ovarian cancer using molecular combing and/or detection or quantification of BRCA1 expression.

Description

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Claims

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Application Information

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Owner UNIV CLAUDE BERNARD LYON 1
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