Role of bile acids and neutral sterols in familial cancer syndromes of the colon

1983 ◽  
Vol 26 (9) ◽  
pp. 629-632 ◽  
Author(s):  
Padmanabhan Nair ◽  
Nabila Turjman
2019 ◽  
Vol 30 ◽  
pp. v811
Author(s):  
A.V. Mitkova ◽  
R. Dodova ◽  
M. Koleva ◽  
A. Andreeva ◽  
M. Tzekova-Chernopolska ◽  
...  

2002 ◽  
Vol 20 (1) ◽  
pp. 91-101
Author(s):  
A. Koliopanos ◽  
M. Wirtz ◽  
M.W. Büchler ◽  
H. Friess

2008 ◽  
pp. 449-466
Author(s):  
Michelle P. Elieff ◽  
Antonio Lopez-Beltran ◽  
Rodolfo Montironi ◽  
Liang Cheng

2016 ◽  
pp. 276-290
Author(s):  
Henry T. Lynch ◽  
Carrie L. Snyder ◽  
Jane F. Lynch

Thanks to the veritably logarithmic advances in the molecular genetics of many emerging hereditary cancer syndromes, genetic counselling has become of paramount importance. It is a key element of the emerging concepts for patient education and management, which have become the clinical bedrock for diagnosis and management of hereditary cancer. Genetic counsellors have become proficient in the understanding of the complexities of molecular genetics in relation to hereditary cancer syndromes, demonstrating their ability both to supplement and replace the customary physician’s role in this overall process. We have used colorectal cancer, in particular Lynch syndrome, as a clinical genetic model based on the authors’ experience with diagnosis, DNA testing, and counselling of thousands of families for over four decades. Undoubtedly, the surface of the proverbial iceberg has barely been grazed in regard to the developments for the genetic counseling discipline.


Clinical genetics is the medical specialty that deals with diagnosis and counselling of patients affected (or potentially affected) with disease that may have a genetic basis. These conditions include chromosomal abnormalities (e.g. Down’s syndrome/trisomy 21), single gene disorders (e.g. cystic fibrosis), familial cancer syndromes (e.g. hereditary non-polyposis colorectal cancer), and birth defects with a genetic component (e.g. cleft palate). The service is largely consultant led, supported by genetic counsellors in tertiary referral centres. Different inheritance patterns are described, autosomal dominant, autosomal recessive, X-linked, and mitochondrial, as well as the range of different genetic tests currently in clinical use (karyotype, microarray, gene panel, exome sequencing, and genome studies). The importance of empathetic communication, a detailed family history, and a multidisciplinary approach are emphasized.


The Lancet ◽  
1994 ◽  
Vol 343 (8899) ◽  
pp. 709-713 ◽  
Author(s):  
C Eng ◽  
B Ponder ◽  
V Murday ◽  
D Easton ◽  
M Stratton ◽  
...  

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