Copy number variation in normal and cancer tissue

Question

[akij]

What are the potentials of copy number variations in cancer screening. Can CNV be used for cancer detection?

[ATpoint]

it can be easily determined that whether a person have cancer or not.

Do yourself a favor and omit the thought that things come easy in this field. I mean no disrespect here, but if you ever think that something is trivial and simple in cancer research, you probably got something wrong.

[Ram]

Cite your sources for the following statements please:

in cancer cell copy number variations are at least 2-3 times higher than normal cells

and

CNV is not used in cancer determination

Answer 1

[Jean-Karim Heriche]

It depends on what you mean by "cancer determination". This paper talks about the potential of CNV detection in cancer screening.

[akij]

Thanks. Your paper is the answer I was looking for. Do you happen to know more articles or resources about the potential of CNV detection in cancer screening? It would be nice if you share them. Thanks

[ivivek_ngs]

The one posted in the above answer is one of the most recent paper that you can get your hands on. There is another paper which is using Massively Multiplexed PCR Methodology and then employing NGS for finding CNVs. Take a look here. This is more reliant on the method. However, with targeted sequencing, one can target CNVs but more precisely reveals SNVs and INDELS but this is still very new and under exploration. Here is the paper.

My knowledge of amplicon based sequencing is not that high, however, mostly it targets somatic and germline SNVs with a better precision for custom panels. There is not much in terms of CNVs TBH. One algorithm I would encourage to try and test is this.

However, technologies in diagnostic genomics in light of cancer genes are more explored either in forms of amplicons or WES if one wants to use both SNVs and CNVs. Hope this gives you a start point for what you are looking for.