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Somatic mutations in cancer and genetic syndromes June 29, 2008

Posted by ramunas in cancer genetics, Ras-MAPK, Resources, sporadic cancer.

As for clinical geneticist, traditionally concerned more with germline (hereditary) mutations and disease, it might be strange to search through somatic mutation (or acquired) databases. But it is obvious that understanding of cancer genetics can not be limited to only germline or somatic mutations – it must be combined approach. And then you start to think in systemic way, or in other words, you think in pathways or patterns (pretty much the same way as main character from D. Aronofsky’s notorious “Pi” 🙂 )

Anyway, currently I’m gliding through Ras-MAPK signaling pathway and in a future some posts will be related to it. Interestingly, lot of things in genetics are connected or in other ways, as a friend of mine once stated, “traditional genetics is dead” 🙂

Just take a look: Ras-MAPK pathway is probably one of the most upregulated pathway in sporadic cancers. And there are bunch of syndromes with inherited altered mutations in a genes from there:

Among other symptoms, Neurofibromatosis type 1 have up to 13% risk for developing maligancy (mostly for MPNST), Costello syndrome have about 17% increased risk of cancer (particularly rhabdomyosarcomas, neuroblastomas and bladder Ca), in Noonan there is increased risk for juvenile myelomonocytic leukemia. Therefore lot of attempt must taken to perform targeted screening for these patients. LEOPARD (which is allelic for Noonan s. and stands for lentigines, ECG anomalies, ocular hypertelorism, pulmonic stenosis, abnormal genitalia, retarded growth and deafness) and CFC syndrome seems do not have increased cancer risk.

For somatic mutation in cancer invaluable tool seems to be COSMIC database – Catalogue of Somatic Mutation In Cancer by Wellcome Trust institute. COSMIC is designed to store and display somatic mutation information and related details and contains information relating to human cancers. Enjoy.



1. anniepema - June 30, 2008

There is a complex relationship between the genes one is born with and cancer,another way to breast cancer and prostate cancer is having an older father. Both diseases increase in incidence if the father was older at the time of conception. In the blog following one can sfind studies on many diseases and disorders that increase with paternal age http://how-old-is-too-old.blogspot.com/

Advanced paternal age: How old is too old?
Isabelle Bray, David Gunnell, George Davey Smith

Department of Social Medicine, University of Bristol, UK

Correspondence to:
Dr I Bray
Department of Social Medicine, University of Bristol, Canynge Hall, Whiteladies Road, Bristol BS8 2PR, UK; Issy.Bray@bristol.ac.uk

Average paternal age in the UK is increasing. The public health implications of this trend have not been widely anticipated or debated. This commentary aims to contribute to such a debate. Accumulated chromosomal aberrations and mutations occurring during the maturation of male germ cells are thought to be responsible for the increased risk of certain conditions with older fathers. Growing evidence shows that the offspring of older fathers have reduced fertility and an increased risk of birth defects, some cancers, and schizophrenia. Adverse health outcomes should be weighed up against advantages for children born to older parents, mindful that these societal advantages are likely to change over time.

2. Lisa Schoyer - April 29, 2009

You may be interested to know that Dr. Kate Rauen and I are convening an international symposium on “Genetic Syndromes of the Ras/MAPK Pathway: From Bedside to Bench and Back,” at the Doubletree Berkeley Hotel this August 1-2, 2009 to discuss existing meds that work on components of the pathway – and hopefully, reasonable treatment options for children with these syndromes. http://cancer.ucsf.edu/raspathway2009/

Additionally, family/advocacy conferences will be overlapping with the symposium; for doctors and researchers, this is an incredible opportunity to see the phenotypical similarities and differences of these syndromes in the same room – and actually get to know them as well. For parents and patients, it’s an opportunity to meet folks interested in researching what they have to contribute.

Lisa Schoyer, MFA
Parent of a child w/Costello syndrome
Co-Chair, Ras/MAPK Pathway Symposium

3. Kok Siong Chen - October 21, 2009

Good article about Cancer. I also start to write about Cytogenetics and Cancer to introduce some knowledge about the cytogenetics and cancer. I will provide some tips to prevent cancer and genetics disorders from occur. Hope to learn from you! Thanks!

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