Family still matters: Counseling patients with complex family histories of colon and endometrial cancers.

Autor: Gemmell AP; Simmons Comprehensive Cancer Center and Department of Internal Medicine, UT Southwestern Medical Center, Dallas, Texas., Mauer CB; Simmons Comprehensive Cancer Center and Department of Internal Medicine, UT Southwestern Medical Center, Dallas, Texas., Reys BD; Simmons Comprehensive Cancer Center and Department of Internal Medicine, UT Southwestern Medical Center, Dallas, Texas., Pirzadeh-Miller S; Simmons Comprehensive Cancer Center and Department of Internal Medicine, UT Southwestern Medical Center, Dallas, Texas., Ross TS; Simmons Comprehensive Cancer Center and Department of Internal Medicine, UT Southwestern Medical Center, Dallas, Texas.
Jazyk: angličtina
Zdroj: Molecular genetics & genomic medicine [Mol Genet Genomic Med] 2019 Sep; Vol. 7 (9), pp. e886. Date of Electronic Publication: 2019 Jul 26.
DOI: 10.1002/mgg3.886
Abstrakt: Background: There are no national guidelines for the management of patients with a family history consistent with Lynch syndrome (LS) but a negative genetic test. To determine current management practices, genetic counselors' (GCs) recommendations were assessed.
Methods: A survey of GCs using five hypothetical pedigrees was posted to National Society of Genetic Counselors (NSGC) discussion forums. Descriptive statistics were used.
Results: One-hundred and fifteen surveys were completed. A pedigree with a first-degree relative (FDR) with early-onset colorectal cancer (CRC) and a family history of CRC and endometrial cancer (EC) prompted 83% (n = 95) of respondents to recommend early and frequent colonoscopies, based on family history. When the CRCs and ECs occurred in family members removed from the proband, 96% (n = 110) of GCs said they would screen based on family history. However, only 52% (n = 60) suggested CRC screening should begin earlier and occur more often, and 43% (n = 50) suggested CRC screening should follow standard age and frequency guidelines.
Conclusion: Concordance of opinion among GCs for the management of patients with negative genetic test results exists when FDRs are affected. However, when affected relatives are more distant, GCs disagreed on screening recommendations. These data suggest a need for guidelines for patients with a family history of cancer and a negative genetic test.
(© 2019 The Authors. Molecular Genetics & Genomic Medicine published by Wiley Periodicals, Inc.)
Databáze: MEDLINE
Externí odkaz:
Nepřihlášeným uživatelům se plný text nezobrazuje