Genetic testing in families with hereditary nonpolyposis colon cancer

C Lerman, C Hughes, BJ Trock, RE Myers, D Main… - Jama, 1999 - jamanetwork.com
ContextGenetic testing for hereditary nonpolyposis colon cancer (HNPCC) is available, but
the rates of acceptance of testing or barriers to participation are not known. ObjectiveTo …

Genetic testing and counseling for hereditary forms of colorectal cancer

GM Petersen, JD Brensinger… - … Journal of the …, 1999 - Wiley Online Library
The discovery of genes responsible for inherited forms of colorectal cancer have the
potential to improve cancer risk assessment and counseling. Germline mutations (nonsense …

Genetic disorders associated with cancer predisposition and genomic instability

CJ Vessey, CJ Norbury, ID Hickson - Progress in nucleic acid research and …, 1999 - Elsevier
Genomic instability in its broadest sense is a feature of virtually all neoplas-tic cells. In
addition to the mutations and/or gene amplifications that appear to be a prerequisite for the …

A common MSH2 mutation in English and North American HNPCC families: origin, phenotypic expression, and sex specific differences in colorectal cancer

NJ Froggatt, J Green, C Brassett, DGR Evans… - Journal of medical …, 1999 - jmg.bmj.com
The frequency, origin, and phenotypic expression of a germline MSH2 gene mutation
previously identified in seven kindreds with hereditary non-polyposis cancer syndrome …

Microsatellite instability: impact on cancer progression in proximal and distal colorectal cancers

P Jernvall, MJ Mäkinen, TJ Karttunen, J Mäkelä… - European Journal of …, 1999 - Elsevier
Whilst individual planning of treatment and follow-up in every colorectal cancer case is an
increasing demand, prognostic markers are needed for predicting cancer progression in the …

Heterogeneity studies identify a subset of sporadic colorectal cancers without evidence for chromosomal or microsatellite instability

IB Georgiades, LJ Curtis, RM Morris, CC Bird… - Oncogene, 1999 - nature.com
Two apparently independent mechanisms of instability are recognized in colorectal cancer,
microsatellite instability and chromosomal instability. Evidence from colorectal cancer cell …

Founder BRCA1 and BRCA2 mutations in French Canadian ovarian cancer cases unselected for family history

PN Tonin, AM Mes‐Masson, SA Narod… - Clinical …, 1999 - Wiley Online Library
The breast cancer susceptibility genes, BRCA1 and BRCA2, differ in their contribution to
ovarian cancer. Recently, founder mutations in each of these genes were identified in …

Microsatellite instability and mismatch repair gene inactivation in sporadic pancreatic and colon tumours

C Ghimenti, P Tannergård, S Wahlberg, T Liu… - British journal of …, 1999 - nature.com
Genomic instability has been proposed as a new mechanism of carcinogenesis involved in
hereditary non-polyposis colorectal cancer (HNPCC) and in a large number of sporadic …

Missense and nonsense mutations in codon 659 of MLH1 cause aberrant splicing of messenger RNA in HNPCC kindreds

M Nyström‐Lahti, M Holmberg… - Genes …, 1999 - Wiley Online Library
Germline mutations that give rise to premature termination codons in mRNAs have
frequently been associated with aberrant processing of the nascent transcripts. This can take …

Hereditary endocrinopathies

JF Moley, TC Lairmore, JE Phay - Current Problems in Surgery, 1999 - Elsevier
The multiple endocrine neoplasia (MEN) syndromes represent the entire field of
endocrinology, except for the diseases resulting from dysfunction of the gonadal endocrine …