OVARIAN CANCER and US: cancer.genetics

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Showing posts with label cancer.genetics. Show all posts
Showing posts with label cancer.genetics. Show all posts

Tuesday, March 06, 2012

abstract: Genetic Considerations for a Woman's Annual Gynaecological Examination - Obstet Gynaecol Can.



Obstet Gynaecol Can. 2012 Mar;34(3):276-84.

Genetic Considerations for a Woman's Annual Gynaecological Examination.

Source

Calgary AB.

Abstract

Objective: 
To provide the physician with an overview of common genetic conditions that should be considered during a women's annual gynaecological assessment to determine the patient's risk or to initiate specific testing or referral to another subspecialty service, depending on personal or family history.

Options: 
This genetic information can be used for patient education and possible disease and/or mutation screening or diagnosis.

Outcomes: 
The use of this genetic information may allow improved risk-benefit assessment and management at the annual gynaecological examination.

Evidence:
Studies published in English up to and including May 2010 were retrieved through searches of PubMed and the Cochrane Library, using appropriate controlled vocabulary (gynaecological diagnosis, genetic inheritance) and key words (genetic risk, genetic mutation, inheritance, family history, uterus, ovary, endometrial, vagina, colon, gastric, renal, breast, cardiac, thrombophilia, diabetes, epilepsy, leiomyomata uteri). Other literature sources were identified through searching the web sites of health technology assessment and health technology assessment-related agencies, clinical practice guideline collections, clinical trial registries, and national and international medical specialty societies.

Values:
The levels of evidence are not adequate for evidence-based recommendations to be made.

Benefits, harms, and costs: 
This committee opinion will enhance the use of new genetic knowledge and its application to the annual gynaecological care of women. Risk management and diagnostic opportunities for genetic gynaecological conditions will be improved. A more complete understanding of genetic conditions may increase anxiety and psychological stress for women and their families.

Sponsors: Society of Obstetricians and Gynaecologists of Canada.

Recommendations 
The levels of evidence are not adequate for evidence-based recommendations to be made.

Thursday, January 28, 2010

Now's the time to find biomarkers on purpose -- Annals of Oncology



"Studies need to be conducted to determine the optimal design for using genome-wide profiling to identify putative biomarkers of drug response. To date, most biomarkers of drug response identified through genome-wide profiling have occurred through retrospective analysis of available tissue. To really progress this field, realistic planning for biomarker discovery and validation in clinical trials needs to be conducted. We, as clinical scientists, need to progress from only using convenient clinical cohorts to identify biomarkers to actually planning and following through with prospective clinical trials whose aims are to discover and/or validate putative biomarkers of drug response. To initiate a study without a realistic plan for discovery and validation reflects a lack of serious desire to find robust clinical predictors..... Until this becomes more commonplace, the genomic revolution will be focused on manuscript generation and investigator career development, leaving the benefit to patients nothing more than an unrealized dream."

Friday, January 15, 2010

Exons: Researchers Sequence 'Exomes' Of New Strategy For Finding Disease Genes



"....demonstrated the feasibility and value of a new strategy for identifying relatively rare genetic variants that may cause or contribute to disease....The new strategy involves isolating and sequencing all exons which are the parts of the human genome that contain the information needed to produce proteins, the building blocks of the body. The complete set of exons – referred to as the "exome" – makes up only one percent of the human genome. By selecting only the exome to sequence, the important information about an individual can be obtained at a much lower cost than sequencing a person's entire genome."