scholarly journals Gene discovery in familial cancer syndromes by exome sequencing: prospects for the elucidation of familial colorectal cancer type X

2012 ◽  
Vol 25 (8) ◽  
pp. 1055-1068 ◽  
Author(s):  
Chee-Seng Ku ◽  
David N Cooper ◽  
Mengchu Wu ◽  
Dimitrios H Roukos ◽  
Yudi Pawitan ◽  
...  
Keyword(s):  
Colorectal Cancer ◽  
Exome Sequencing ◽  
Familial Cancer ◽  
Gene Discovery ◽  
Cancer Type ◽  
Familial Colorectal Cancer ◽  
Familial Cancer Syndromes ◽  
Cancer Syndromes

Familial cancer syndromes and genetic counselling

2016 ◽  
pp. 276-290
Author(s):  
Henry T. Lynch ◽  
Carrie L. Snyder ◽  
Jane F. Lynch
Keyword(s):  
Colorectal Cancer ◽  
Molecular Genetics ◽  
Genetic Counselling ◽  
Hereditary Cancer ◽  
Genetic Model ◽  
Familial Cancer ◽  
Hereditary Cancer Syndromes ◽  
Clinical Genetic ◽  
Familial Cancer Syndromes ◽  
Cancer Syndromes

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.

scholarly journals The genetic and epigenetic landscape of early-onset colorectal cancer

2020 ◽  
Vol 9 (3) ◽  
pp. CRC23 ◽  
Author(s):  
C Richard Boland ◽  
Ajay Goel ◽  
Swati G Patel
Keyword(s):  
Colorectal Cancer ◽  
Early Onset ◽  
Familial Cancer ◽  
Genetic Alterations ◽  
Epigenetic Alterations ◽  
Epigenetic Landscape ◽  
Familial Cancer Syndromes ◽  
Epigenetic Signatures ◽  
Cancer Syndromes ◽  
Early Onset Colorectal Cancer

Colorectal cancer (CRC) in individuals under the age of 50 is a problem that is increasing in USA and around the world. In this review, we discuss the degree to which early-onset (EO)CRC may be due to unsuspected Lynch syndrome or other inherited germline variants that predispose to cancer, describe the known somatic genetic alterations in EO tumors and discuss alterations in DNA methylation. Approximately 20% of EOCRCs can be attributed to identifiable germline mutations in genes that cause familial cancer syndromes. A variety of other genetic/epigenetic alterations have also been reported. We conclude that this is a heterogeneous problem, that requires a comprehensive analysis of genetic/epigenetic signatures to better understand EOCRC. Various subsets of EOCRCs must be analyzed individually for clues regarding the etiologies and possible specific therapies for this disease.

Familial cancer syndromes

2016 ◽  
pp. 276-290
Author(s):  
Carrie L. Snyder ◽  
Heather Hampel ◽  
Henry T. Lynch
Keyword(s):  
Colorectal Cancer ◽  
Genetic Counseling ◽  
Molecular Genetics ◽  
Hereditary Cancer ◽  
Genetic Model ◽  
Familial Cancer ◽  
Hereditary Cancer Syndromes ◽  
Clinical Genetic ◽  
Familial Cancer Syndromes ◽  
Cancer Syndromes

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.

Abstract 2745: Exome sequencing analysis of 41 patients with Familial Colorectal Cancer Type X (FCCTX)

2015 ◽  
Author(s):  
Marilena Melas ◽  
Hung N. Luu ◽  
Gad Rennert ◽  
Flavio Lejbkowicz ◽  
Stephen B. Gruber ◽  
...  
Keyword(s):  
Colorectal Cancer ◽  
Exome Sequencing ◽  
Cancer Type ◽  
Sequencing Analysis ◽  
Familial Colorectal Cancer

Familial Cancer Syndromes

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

Genetics

2019 ◽  
pp. 341-348
Keyword(s):  
Birth Defects ◽  
Trisomy 21 ◽  
Chromosomal Abnormalities ◽  
Familial Cancer ◽  
Single Gene ◽  
Medical Specialty ◽  
Clinical Genetics ◽  
Single Gene Disorders ◽  
Familial Cancer Syndromes ◽  
Cancer Syndromes

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.

Familial cancer syndromes

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