What Is Your Genome?

Life –Terror. Ecstasy. Fight. Denial. Flight. Failure. PAIN. Forgiveness. Reconciliation. Hope. Love. Peace – Death.

  • Your genome is the information needed to build the human body and keep it healthy
  • It is written in chemical code called DNA
  • The genome is made of segments of DNA called genes and other genetic material

Most cancers are caused by cells with unusual changes in their genome.

UK scientists have undertaken a huge “archaeological dig” of cancer in the UK, analysing the complete genetic make-up – or whole genome sequence – of tumors from about 12,000 patients.

Prof Matt Brown, chief scientific officer of Genomics England, “Mutational signatures are an example of using the full potential of whole genome sequencing. “We hope to use mutational clues and apply them back into our patient population, with the ultimate aim of improving diagnosis and management of cancer patients.” (The research is supported by Cancer Research UK).

The team says the unprecedented amount of data allowed them to uncover new patterns in the DNA of cancer – hinting at causes that are not yet understood. They add that the genetic clues will ultimately help improve diagnosis and treatment (The research is published in Science.)

Cancer can be thought of as a corrupted version of our own healthy cells – mutations to our DNA change our cells until eventually they grow and divide uncontrollably.

Traditionally many cancers have been categorised by doctors based on where they are in the body and the type of cells involved – but whole genome sequencing can provide another layer of key information.

‘Dinosaur footprints’

Whole genome sequencing is relatively new for some cancers, The Royal Marsden Hospital is recruiting for a Precision Medicine in the Prostate Cancer Care Pathway study, they are examining (recruiting) prostate cancer patients and close relatives not yet diagnosed. The study is an evaluation of integrating germline genetic testing into the management of men at risk of / living with prostate cancer. They are trying to find out whether genetic testing in men who either have prostate cancer, or who have a very strong family history of prostate cancer, provides useful information that helps guide treatment and / or screening (which is referred to as clinical management).

The aim of the study is to create a test that will identify potential high-risk men early and provide a precision care plan/avoidance plan. With 1 in 4 men in the UK likely to contract prostate cancer in their lifetime and prostate cancer being the biggest killer of men in the UK (currently one man dying every 45 minutes in the UK). There is a clear rationale for such a test? When compared with other high risk multiple case cancers in women, for example breast and cervical cancers, established ‘testing’ pre and early warning/screening systems have been in place for decades. A reliable prostate cancer pre screening system is a no brainer?

Taking part in this research study is voluntary. There is a fair amount of form filling, however, once completed there is literally a ‘spit in a jar sample’ provided and then a wait of around 9 months (it takes that long for a full geno)! Comprehensive results are revealed via a series of face to face consultations.

I have enrolled as has my son (38 yrs old, not a prostate cancer patient), he is expecting his first son in July (2022), and my daughter had her first baby, my first grandchild, grandson. I cannot see the study, directly benefiting myself  (advanced metastatic) however, I was very keen to do anything and everything possible to help my son and grandsons and every other male of course. Prostate Cancer, once considered as an old age cancer, my consultant revealed she had consulted with two males, one in his early 20’s another early 30’s both with advanced (no cure) prostate cancer

Apparently, Cancer DNA profiling is already available on the NHS for a small number of specific cancers, including some blood cancers (try getting it)?. The NHS long-term plan aims to make it more widely available, through the NHS Genomic Medicine Service.

The Latest Study

Lead researcher Prof Serena Nik-Zainal, a consultant at Cambridge University Hospitals, told the BBC this latest study was like an “archaeological dig” of people’s cancer. She added: “We can see the patterns or imprints in the field of their cancers – like dinosaur footprints – of what is going wrong with their cancers, and everyone’s cancer is different. To know we can personalise each person’s cancer report means we are a step closer to personalising treatment for them.”

Led by the University of Cambridge, the research team analysed anonymised DNA data provided by the 100,000 Genomes Project – an England-wide project to sequence the whole genomes of patients affected by cancer and rare diseases.

With thousands of genetic changes seen in each tumour they analysed, researchers were able to detect specific combinations of genetic alterations – so-called “mutational signatures” – that may be key to cancers developing. Comparing the data to other international genetic cancer projects, they confirmed patterns that are already known, and uncovered 58 new ones.

Some signatures can provide clues about whether patients have had exposure to environmental causes of cancers – such as smoking. Others provide more information about genetic abnormalities that may be amenable to specific drugs, researchers say.

Researchers also created a computer programme to help scientists and doctors check whether patients who have had whole genome sequencing have any of the newly discovered mutational clues.

Thanks for Reading




Published by Riff

Husband to my inspirational, (long suffering,) wife Gail, father to two, amazing (adult) children, Aubrey & Perri, teacher, former guitarist. When I started this blog I quickly became granda(r) to my beautiful, first grandson Henderson. Grandparenting, something I was relishing but had began to believe I would not get to experience. I now have three incredible grandsons, Henderson, Fennec and just days ago Nate. I Love people. I love my family, my incredible friends, I have love(d) what I do (my Job), I love Music, Glastonbury Festival, Cars, Everton .... I love many things but, most of all, I fucking love life.

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