Diagnostic Criteria for Testing for BRCA1 and BRCA2: The Experience of the Department of Defense Familial Breast/Ovarian Cancer Research Project

Abstract

The Department of Defense Familial Breast/Ovarian Cancer Research Project has offered genetic counseling and testing for BRCA1 and BRCA2 on a research basis to patients meeting specific diagnostic criteria, with risk for BRCA1 and BRCA2 mutations calculated based on the Couch model. In 2.5 years, 250 patients were evaluated and 101 patients met criteria requirements, including 33 who met criteria in more than one category. Ninety patients elected to undergo DNA testing. In this group of 90 patients, 14 mutations (15.5%) and 16 unclassified variants (17.7%) were identified. The most common inclusion criteria were onset of breast/ovarian cancer before age 45 years (n = 32) and onset of breast/ovarian cancer before age 45 years with strong family history (n = 21). However, when number of mutations and unclassified variants found were compared separately across all diagnostic criteria (including those of more than one capacity) using the chi 2 statistic, no significant differences were seen among the categories to suggest that one criterion was more predictive of mutations or variants than another. Couch risk values for patients with mutations showed a mean of 14% and ranged from 3.2 to 43.5% (range for all patients, 1.2-69.7%). These findings emphasize the importance of using multiple diagnostic criteria and suggest that a Couch risk value of > 3% may be useful in selecting patients for testing. The data also underscore the necessity of genetic counseling in the testing process, particularly given the large number of unclassified variants diagnosed and their uncertain status for disease predisposition.

BRCA1 Genetic Mutation and Its Link to Ovarian Cancer: Implications for Advanced Practice Nurses

“…Pretesting counseling is crucial for those considering or receiving BRCA1 mutation testing, and referral to a certified genetic counselor is appropriate. Fries et al (2002) discuss the importance of counseling prior to testing, with an emphasis on the difficulty of test interpretation. It needs to be emphasized that current screening methods only detect 60%–70% of BRCA1 mutations (Couch & Hartmann, 1998).…”

Outcome of Five Years of Accelerated Surveillance in Patients at High Risk for Inherited Breast/Ovarian Cancer: Report of a Phase II Trial

“…Testing methods, the outcomes of testing, and general guidelines for patient management have previously been reported. 7,8 This article details the outcome of accelerated surveillance of patients who were identified through the testing protocol to be at high risk for new or recurrent disease based on their family history or the presence of a diagnosed BRCA1 or 2 mutation.…”

Nuevas aportaciones a la caracterización de genes de susceptibilidad en cáncer de mama

“…Sobre la mutación 6678insA no hay mucha información disponible: está registrada 2 veces en el BIC con muestras del oeste de Europa y aparece tan solo en una publicación (Fries et al, 2002). En nuestro estudio aparece en una familia cuyo probando tuvo un cáncer de mama a los 32 años y en su línea materna hay otros 7 casos, 3 en familiares de primer grado del probando.…”