In:
Journal of Clinical Oncology, American Society of Clinical Oncology (ASCO), Vol. 25, No. 18_suppl ( 2007-06-20), p. 6564-6564
Kurzfassung:
6564 Background: HNPCC, the most common cause of hereditary colorectal cancer (CRC), is inherited in an autosomal dominant fashion and caused by micro satellite instability and mutations in mismatch repair genes. Affected patients (pts) and first degree relatives tend to develop colonic and extra colonic tumors that need to be tested for the mutations. Genetic consultation (GC) should be routinely offered to the affected pts and relatives. To assess the utilization of GC, we assessed the frequency of referral for GC for the presence of HNPCC syndrome at our medical center. Methods: Patients with CRC were identified from the tumor registry at the University of Arkansas for Medical Sciences (UAMS) and the Central Arkansas Veterans Healthcare System (CAVHS) from January 1 st 2000 to September, 2006. Pts’ charts were reviewed for synchronous or metachronous HNPCC tumors and family history (FH). FH was categorized as positive according to the Bethesda criteria (BC, 2000–2002), revised Bethesda criteria (RBC, 2003–2006), negative (documented FH but no h/o cancer) or inadequate documentation. Percentage of pts with positive FH for HNPCC syndrome and those with CRC less than 50 years of age (for pts diagnosed 2003–2006) who were referred for GC was calculated. The list of these pts was cross referenced to the list in genetics clinic at UAMS and CAVHS. Results: 858 patient charts were reviewed. Table 1 shows the number of pts meeting criteria for genetic counseling. 138 (16%) pts had inadequate /no documented FH. Of the 720 pts with documented FH, 67 (9.3%) had positive FH and 126(17%) met BC / RBC. Only 13 (10.3%) of 126 pts were referred for genetic counseling. The number of pts eligible for GC increased with inclusion of RBC. However, the percentage of eligible pts referred for GC was extremely low. Conclusions: FH is not adequately documented in many pts presenting with CRC. Only a small percentage of pts who qualify for GC are referred. Education of health care providers for referral to genetics counseling is warranted. No significant financial relationships to disclose. [Table: see text]
Materialart:
Online-Ressource
ISSN:
0732-183X
,
1527-7755
DOI:
10.1200/jco.2007.25.18_suppl.6564
Sprache:
Englisch
Verlag:
American Society of Clinical Oncology (ASCO)
Publikationsdatum:
2007
ZDB Id:
2005181-5
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