Genetic counseling in a navajo hereditary nonpolyposis colorectal cancer kindred

✍ Scribed by Henry T. Lynch; Tom Drouhard; Hans F. A. Vasen; Jennifer Cavalieri; Jane Lynch; Suzanne Nord; Thomas Smyrk; Stephen Lanspa; Patricia Murphy; Kathy L. Whelan; June Peters; Albert de la Chapelle

• Publisher: John Wiley and Sons
• Year: 1996
• Tongue: English
• Weight: 565 KB
• Volume: 77
• Category: Article
• ISSN: 0008-543X
• DOI: 10.1002/(sici)1097-0142(19960101)77:1<30::aid-cncr7>3.0.co;2-r

✦ Synopsis

BACKGROUND.

Cross-cultural genetic counseling was provided to an extended Navajo Indian family in which the MLHl gene mutation for hereditary nonpolyposis colorectal cancer (HNPCC) had been identified. The family had been observed by the authors since 1983 and over the years had been provided with intensive education regarding the natural history of HNPCC as well as recommendations for cancer surveillance and management that was responsive to this natural history.

METHODS.

Following identification of the MLHl mutation, DNA from family members was evaluated by a reference laboratory (OncorMed, Gaithersburg, MD), where sequences were checked in both the forward and reverse directions against the published sequence for MLH1. The 4bp deletion beginning at the first nucleotide of codon 727 was easily visualized in the heterozygous condition in both affected and predispositional individuals. The family was reeducated as a group and then provided further education individually during genetic counseling sessions, at which time they were appraised of potential penalties, such as insurance and employer discrimination, and psychological sequelae that could result from knowledge of the MLHl mutation. Strict confidentiality of this information was assured.