Genetic counseling in hereditary nonpolyposis colorectal cancer: an extended family with MSH2 mutation. 1996

H T Lynch, and S Lemon, and T Smyrk, and B Franklin, and B Karr, and J Lynch, and S Slominski-Caster, and P Murphy, and C Connolly
Department of Preventive Medicine, Creighton University School of Medicine, Omaha, Nebraska 68178, USA.

OBJECTIVE Molecular genetic advances have increased the demand for DNA testing. We describe DNA based genetic counseling in a hereditary nonpolyposis colorectal cancer (HNPCC) family. METHODS This extended HNPCC family was found to harbor the MSH2 germline mutation. Family history, medical, and pathology documents enabled us to secure a high degree of verification that the kindred qualified as HNPCC. DNA testing revealed the MSH2 germline mutation that was verified independently in two laboratories. Genetic counseling was provided before DNA testing and disclosure of MSH2 findings. RESULTS Genetic counseling revealed a variety of findings characterized by emotional stress in MSH2 germline mutation carriers. Concerns centered around reproductive issues, potential transmission of the deleterious gene to their progeny, and discrimination by insurance carriers and employers. More than one-half of the patients found to harbor the MSH2 mutation considered the option of prophylactic subtotal colectomy. CONCLUSIONS DNA testing should be restricted to well-verified candidate families in which genetic counseling should be mandatory. HNPCC family members sought genetic risk assessment for their own health and that of their children. Contrasting emotional responses took place when told of their gene testing status and this required a sensitive empathetic listening ear. Patients have many concerns about their lifetime cancer destiny when told that they harbor the culprit MSH2 germline mutation.

UI MeSH Term Description Entries
D008297 Male Males
D008875 Middle Aged An adult aged 45 - 64 years. Middle Age
D009154 Mutation Any detectable and heritable change in the genetic material that causes a change in the GENOTYPE and which is transmitted to daughter cells and to succeeding generations. Mutations
D010641 Phenotype The outward appearance of the individual. It is the product of interactions between genes, and between the GENOTYPE and the environment. Phenotypes
D012098 Reproduction The total process by which organisms produce offspring. (Stedman, 25th ed) Human Reproductive Index,Human Reproductive Indexes,Reproductive Period,Human Reproductive Indices,Index, Human Reproductive,Indexes, Human Reproductive,Indices, Human Reproductive,Period, Reproductive,Periods, Reproductive,Reproductive Index, Human,Reproductive Indices, Human,Reproductive Periods
D005260 Female Females
D005817 Genetic Counseling An educational process that provides information and advice to individuals or families about a genetic condition that may affect them. The purpose is to help individuals make informed decisions about marriage, reproduction, and other health management issues based on information about the genetic disease, the available diagnostic tests, and management programs. Psychosocial support is usually offered. Counseling, Genetic,Genetic Counseling, Prenatal,Prenatal Genetic Counseling
D005838 Genotype The genetic constitution of the individual, comprising the ALLELES present at each GENETIC LOCUS. Genogroup,Genogroups,Genotypes
D006579 Heterozygote An individual having different alleles at one or more loci regarding a specific character. Carriers, Genetic,Genetic Carriers,Carrier, Genetic,Genetic Carrier,Heterozygotes
D006801 Humans Members of the species Homo sapiens. Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man

Related Publications

H T Lynch, and S Lemon, and T Smyrk, and B Franklin, and B Karr, and J Lynch, and S Slominski-Caster, and P Murphy, and C Connolly
December 2006, World journal of gastroenterology,
H T Lynch, and S Lemon, and T Smyrk, and B Franklin, and B Karr, and J Lynch, and S Slominski-Caster, and P Murphy, and C Connolly
January 1996, Oncology (Williston Park, N.Y.),
H T Lynch, and S Lemon, and T Smyrk, and B Franklin, and B Karr, and J Lynch, and S Slominski-Caster, and P Murphy, and C Connolly
February 2011, The Kaohsiung journal of medical sciences,
H T Lynch, and S Lemon, and T Smyrk, and B Franklin, and B Karr, and J Lynch, and S Slominski-Caster, and P Murphy, and C Connolly
October 2006, Nature genetics,
H T Lynch, and S Lemon, and T Smyrk, and B Franklin, and B Karr, and J Lynch, and S Slominski-Caster, and P Murphy, and C Connolly
March 2003, Archives of internal medicine,
H T Lynch, and S Lemon, and T Smyrk, and B Franklin, and B Karr, and J Lynch, and S Slominski-Caster, and P Murphy, and C Connolly
January 1996, Cancer,
H T Lynch, and S Lemon, and T Smyrk, and B Franklin, and B Karr, and J Lynch, and S Slominski-Caster, and P Murphy, and C Connolly
July 2006, Human genetics,
H T Lynch, and S Lemon, and T Smyrk, and B Franklin, and B Karr, and J Lynch, and S Slominski-Caster, and P Murphy, and C Connolly
May 2005, Human genetics,
H T Lynch, and S Lemon, and T Smyrk, and B Franklin, and B Karr, and J Lynch, and S Slominski-Caster, and P Murphy, and C Connolly
May 2005, Human genetics,
H T Lynch, and S Lemon, and T Smyrk, and B Franklin, and B Karr, and J Lynch, and S Slominski-Caster, and P Murphy, and C Connolly
May 2005, Human genetics,
Copied contents to your clipboard!