Use of the MLPA assay in the molecular diagnosis of gene copy number alterations in human genetic diseases
Multiplex Ligation-dependent Probe Amplification (MLPA) assay is a recently developed
technique able to evidence variations in the copy number of several human genes. Due to …
technique able to evidence variations in the copy number of several human genes. Due to …
Recommendations for the care of individuals with an inherited predisposition to Lynch syndrome: a systematic review
ContextAbout 2% of all colorectal cancer occurs in the context of the autosomal dominantly
inherited Lynch syndrome, which is due to mutations in mismatch repair genes. Potential risk …
inherited Lynch syndrome, which is due to mutations in mismatch repair genes. Potential risk …
Prediction of germline mutations and cancer risk in the Lynch syndrome
ContextIdentifying families at high risk for the Lynch syndrome (ie, hereditary nonpolyposis
colorectal cancer) is critical for both genetic counseling and cancer prevention. Current …
colorectal cancer) is critical for both genetic counseling and cancer prevention. Current …
HRPT2 mutations are associated with malignancy in sporadic parathyroid tumours
Background: Hyperparathyroidism is a common endocrinopathy characterised by the
formation of parathyroid tumours. In this study, we determine the role of the recently …
formation of parathyroid tumours. In this study, we determine the role of the recently …
All y'all need to know 'bout retroelements in cancer
VP Belancio, AM Roy-Engel, PL Deininger - Seminars in cancer biology, 2010 - Elsevier
Genetic instability is one of the principal hallmarks and causative factors in cancer. Human
transposable elements (TE) have been reported to cause human diseases, including …
transposable elements (TE) have been reported to cause human diseases, including …
Genetic testing for inherited colon cancer
R Burt, DW Neklason - Gastroenterology, 2005 - Elsevier
The genes associated with each of the inherited syndromes of colon cancer have now been
identified, and genetic testing is available for diagnosis. These syndromes include familial …
identified, and genetic testing is available for diagnosis. These syndromes include familial …
[图书][B] Molecular biology of cancer
F Macdonald, C Ford, A Casson - 2004 - taylorfrancis.com
Molecular Biology of Cancer has been extensively revised and covers heredity cancer,
microarray technology and increased study of childhood cancers. It continues to provide a …
microarray technology and increased study of childhood cancers. It continues to provide a …
Dosage analysis of cancer predisposition genes by multiplex ligation-dependent probe amplification
DJ Bunyan, DM Eccles, J Sillibourne, E Wilkins… - British journal of …, 2004 - nature.com
Multiplex ligation-dependent probe amplification (MLPA) is a recently described method for
detecting gross deletions or duplications of DNA sequences, aberrations which are …
detecting gross deletions or duplications of DNA sequences, aberrations which are …
LKB1 exonic and whole gene deletions are a common cause of Peutz-Jeghers syndrome
E Volikos, J Robinson, K Aittomäki… - Journal of medical …, 2006 - jmg.bmj.com
Background: LKB1/STK11 germline mutations cause Peutz-Jeghers syndrome (PJS). The
existence of a second PJS locus is controversial, the evidence in its favour being families …
existence of a second PJS locus is controversial, the evidence in its favour being families …
Genomic rearrangements in the BRCA1 and BRCA2 genes
S Mazoyer - Human mutation, 2005 - Wiley Online Library
Mutations in the BRCA1 and BRCA2 genes predispose women to breast and ovarian
cancer. BRCA1 and BRCA2 are 83 and 86 kb long, with coding sequences of 5.7 and 10.2 …
cancer. BRCA1 and BRCA2 are 83 and 86 kb long, with coding sequences of 5.7 and 10.2 …