Category Archives: Genetic Medicine

Featured Article Academic Journal Main Category: Smoking / Quit Smoking Also Included In: Lung Cancer;Genetics Article Date: 17 Sep 2012 - 12:00 PDT

Current ratings for: Smokers With Lung Cancer Have Tenfold Genetic Damage

Senior author Richard K. Wilson is director of The Genome Institute at Washington University School of Medicine in St. Louis in the US. He says in a media statement that none of his team was surprised that the genomes of smokers with lung cancer had more mutations than the genomes of never-smokers with the disease:

"But it was surprising to see 10-fold more mutations. It does reinforce the old message - don't smoke," he adds.

Within non-small cell there are also three further classifications: adenocarcinomas (usually found in an outer area of the lung); squamous cell carcinomas (usually found in the center of the lung next to a bronchus or air tube); and large cell carcinomas (these can occur in any part of the lung and tend to grow and spread faster than the other two classes).

In their paper, the researchers describe how they carried out "whole-genome and transcriptome sequencing of tumor and adjacent normal tissue samples" from all 17 patients.

Across all 17 patients they identified just over 3,700 mutations, with an average mutation frequency more than 10-fold higher in the smokers compared to the never-smokers.

However, the researchers can't say whether these will work on these mutations in lung cancer patients, as first author Ramaswamy Govindan, an oncologist who treats patients at Siteman Cancer Center at Barnes-Jewish Hospital and Washington University, explains:

"Whether these drugs will actually work in patients with these DNA alterations still needs to be studied."

"But papers like this open up the landscape to understand what's happening. Now we need to drill deeper and do studies to understand how these mutations cause and promote cancer, and how they can be targeted for therapy," he adds.

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Smokers With Lung Cancer Have Tenfold Genetic Damage

Newswise Lung cancer patients with a history of smoking have 10 times more genetic mutations in their tumors than those with the disease who have never smoked, according to a new study from Washington University School of Medicine in St. Louis.

None of us were surprised that the genomes of smokers had more mutations than the genomes of never-smokers with lung cancer, says senior author Richard K. Wilson, PhD, director of The Genome Institute at Washington University. But it was surprising to see 10-fold more mutations. It does reinforce the old message dont smoke.

The study appears online Sept. 13 in Cell.

Overall, the analysis identified about 3,700 mutations across all 17 patients with non-small cell lung cancer, the most common type. Twelve patients had a history of smoking and five did not. In each patient who never smoked, the researchers found at least one mutated gene that can be targeted with drugs currently on the market for other diseases or available through clinical trials. Across all patients, they identified 54 mutated genes already associated with existing drugs.

Whether these drugs will actually work in patients with these DNA alterations still needs to be studied, says first author Ramaswamy Govindan, MD, an oncologist who treats patients at Siteman Cancer Center at Barnes-Jewish Hospital and Washington University. But papers like this open up the landscape to understand whats happening. Now we need to drill deeper and do studies to understand how these mutations cause and promote cancer, and how they can be targeted for therapy.

Lung cancer is divided into two types small cell and non-small cell, the latter accounting for about 85 percent of all cases. Within non-small cell lung cancer are three further classifications. This current analysis included two of them. Sixteen patients had adenocarcinoma and one had large-cell carcinoma.

Govindan and Wilson also were involved in a larger genomic study of 178 patients with the third type, squamous cell carcinoma, recently reported in Nature. That study was part of The Cancer Genome Atlas project, a national effort to describe the genetics of common cancers.

Over the next year or so, we will have studied nearly 1,000 genomes of patients with lung cancer, as part of The Cancer Genome Atlas, says Govindan, who serves as a national co-chair of the lung cancer group. So we are moving in the right direction toward future clinical trials that will focus on the specific molecular biology of the patients cancer.

Indeed, based on the emerging body of genetic research demonstrating common mutations across disparate cancer types, Wilson speculates that the field may reach a point where doctors can label and treat a tumor based on the genes that are mutated rather than the affected organ. Instead of lung cancer, for example, they might call it EGFR cancer, after the mutated gene driving tumor growth. Mutations in EGFR have been found in multiple cancers, including lung, colon and breast.

This labeling is relevant, Wilson says, because today targeted therapies are approved based on the diseased organ or tissue. Herceptin, for example, is essentially a breast cancer drug. But he has seen lung cancer patients with mutations in the same gene that Herceptin targets.

Original post:
In Lung Cancer, Smokers Have 10 Times More Genetic Damage Than Never-Smokers

11-09-2012 10:24 June 28-29, 2012 - Sequencing in Cohort Studies and Large Sample Collections More:

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Implementation of Genetic Medicine Programs: Laboratories - Stephen Chanok - Video

Newswise African-Americans dont get kidney stones as frequently as Caucasians.

Are they protected genetically? If so, identifying the genetic factors that retard kidney stone formation could lead to new ways to treat or even prevent this painful condition, according to Vanderbilt University researcher Todd Edwards, Ph.D.

Kidney stones afflict one of every 11 Americans and cost the country more than $2 billion annually. Avoiding them could really make a difference for a lot of people, and could cut health costs dramatically, he said.

Until recently, teasing out complicated kidney stone genetics would have required years of study, tens of thousands of patients and hundreds of millions of dollars. Now thanks to BioVU, Vanderbilts massive DNA databank, the mother lode is within reach.

This month BioVU logged in its 150,000th unique genetic sample. It is now the worlds largest collection of human DNA linked to searchable, electronic health information, said Dan Roden, M.D., assistant vice chancellor for Personalized Medicine at Vanderbilt and BioVUs principal investigator.

BioVU began collecting DNA in 2007. Discarded blood specimens from Vanderbilt patients are sent to the DNA Resources Core, where the genetic material is extracted and stored. If patients check a box on a consent form, their leftover blood will not be used, but few choose to opt out.

The DNA samples are bar-coded and, along with their matching electronic health records, scrubbed of information that could identify individual patients.

The resulting genetic gold mine enables Vanderbilt researchers to quickly pull and analyze the DNA of hundreds of people with particular health conditions or responses to medication.

Before proceeding, BioVU investigators must be approved by Vanderbilts Institutional Review Board, sign a data use agreement, and determine, with the help of a BioVU project manager, the feasibility of their idea. Their proposals are then considered by separate pre-review and full review committees consisting of Vanderbilt faculty members.

To date, more than 50 BioVU studies have been approved and are under way.

Read more:
Vanderbilt's BioVU Databank Now World's Largest Human DNA Repository Linked to Searchable, Electronic Health Information

Public release date: 9-Sep-2012 [ | E-mail | Share ]

Contact: Julia Evangelou Strait straitj@wustl.edu 314-286-0141 Washington University School of Medicine

A nationwide consortium of scientists has reported the first comprehensive genetic analysis of squamous cell carcinoma of the lung, a common type of lung cancer responsible for about 400,000 deaths each year.

"We found that almost 75 percent of the patients' cancers have mutations that can be targeted with existing drugs -- drugs that are available commercially or for clinical trials," says one of the lead investigators, Ramaswamy Govindan, MD, an oncologist at Washington University School of Medicine in St. Louis and co-chair of the lung cancer group of The Cancer Genome Atlas.

The research appears online Sept. 9 in Nature.

The Cancer Genome Atlas project combines efforts of the nation's leading genetic sequencing centers, including The Genome Institute at Washington University, to describe the genetics of common tumors with the goal of improving prevention, detection and treatment. The Cancer Genome Atlas is supported by the National Cancer Institute and the National Human Genome Research Institute, both parts of the National Institutes of Health (NIH).

The other lung cancer co-chairs are the study's senior author Matthew Meyerson, MD, PhD, of the Broad Institute of Massachusetts Institute of Technology and Harvard University, and Stephen Baylin, MD, of Johns Hopkins University.

The study examined the tumors and normal tissue of 178 patients with lung squamous cell carcinoma. The investigators found recurring mutations common to many patients in 18 genes. And almost all of the tumors showed mutations in a gene called TP53, known for its role in repairing damaged DNA.

Interestingly, the researchers noted that lung squamous cell carcinoma shares many mutations with head and neck squamous cell carcinomas, supporting the emerging body of evidence that cancers may be more appropriately classified by their genetics rather than the primary organ they affect.

"We clearly see mutations in lung cancer that we see in other human cancers," says Richard K. Wilson, PhD, director of The Genome Institute at Washington University. "This reinforces something that we've been seeing in a lot of our cancer genomics work. It's really less about what type of tissue the tumor arises in lung, breast, skin, prostate and more about what genes and pathways are affected."

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Large lung cancer study shows potential for more targeted therapies

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