Genetic counseling for DAPK1 mutation in a chronic lymphocytic leukemia family

Henry T. Lynch, Kelly M. Ferrara, Dennis D. Weisenburger, Warren G. Sanger, Jane F. Lynch, Stephan D. Thomé

Research output: Contribution to journalArticle

1 Citation (Scopus)

Abstract

Genetic counseling has become the clinical bedrock of hereditary cancer management. Countless advances in molecular genetics contributing to the identification of cancer-causing germline mutations have increased its importance. We report a unique genetic counseling experience involving a family with hereditary chronic lymphocytic leukemia and the cancer-causing mutation in the death-associated protein kinase 1 gene (DAPK1). This hereditary disorder currently lacks any preventive or curative interventions for mutation carriers. This family has been under our investigation for a decade, during which time genealogy, cancer of all anatomic sites, medical and pathology records, and, whenever possible, slides and tissue blocks were reviewed. Family attendance at three group-oriented family information service sessions provided intensive education about this disease. Blood and skin fibroblasts were obtained for molecular genetic studies of DNA leading to the discovery of the DAPK1 mutation in the family. Their intellectual and emotional reaction to its presence or absence in them was assessed. This family serves as a model for genetic counseling in disorders for which lifesaving intervention is not yet possible.

Original languageEnglish
Pages (from-to)95-102
Number of pages8
JournalCancer Genetics and Cytogenetics
Volume186
Issue number2
DOIs
StatePublished - Oct 15 2008

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Death-Associated Protein Kinases
Genetic Counseling
B-Cell Chronic Lymphocytic Leukemia
Mutation
Genes
Molecular Biology
Neoplasms
Genealogy and Heraldry
Information Services
Germ-Line Mutation
Medical Records
Fibroblasts
Pathology
Education
Skin
DNA

All Science Journal Classification (ASJC) codes

  • Cancer Research
  • Genetics
  • Molecular Biology

Cite this

Genetic counseling for DAPK1 mutation in a chronic lymphocytic leukemia family. / Lynch, Henry T.; Ferrara, Kelly M.; Weisenburger, Dennis D.; Sanger, Warren G.; Lynch, Jane F.; Thomé, Stephan D.

In: Cancer Genetics and Cytogenetics, Vol. 186, No. 2, 15.10.2008, p. 95-102.

Research output: Contribution to journalArticle

Lynch, Henry T. ; Ferrara, Kelly M. ; Weisenburger, Dennis D. ; Sanger, Warren G. ; Lynch, Jane F. ; Thomé, Stephan D. / Genetic counseling for DAPK1 mutation in a chronic lymphocytic leukemia family. In: Cancer Genetics and Cytogenetics. 2008 ; Vol. 186, No. 2. pp. 95-102.
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