Novel indications for BRCA1 screening using individual clinical and morphological features
✍ Scribed by François Eisinger; Catherine Noguès; Jean-Marc Guinebretière; Jean-Philippe Peyrat; Valérie-Jeanne Bardou; Tetsuro Noguchi; Philippe Vennin; Richard Sauvan; Rosette Lidereau; Daniel Birnbaum; Jocelyne Jacquemier; Hagay Sobol
- Publisher
- John Wiley and Sons
- Year
- 1999
- Tongue
- French
- Weight
- 106 KB
- Volume
- 84
- Category
- Article
- ISSN
- 0020-7136
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✦ Synopsis
Since there is a lack of common family profile among BRCA1-gene carriers, and since the risk of being a mutation carrier is not limited to women with a family history of breast or ovarian cancer, multivariate statistical analysis using the logistic-regression model was carried out, to discriminate between sporadic cases and BRCA1-breast cancers (BRCA1-BCs), especially when information about the family history of breast/ovarian cancer and ethnicity are irrelevant or unavailable, in order to offer specific medical treatment to this population. We examined 32 BRCA1-BCs selected at cancer genetic clinics and 200 consecutive controls without family history of breast cancer for age at onset and current morphological parameters. Following the multivariate analysis, 3 parameters only, namely, early age at cancer onset [odds ratio (OR) for each year ؍ 1.16; p F 0.0001], estrogenreceptor negativity (OR ؍ 5.7; p ؍ 0.01) and poor differentiation (OR ؍ 5; p ؍ 0.03) were found significant factors for predicting BRCA1-carrier status. The expected impact in BRCA1 screening of our model was estimated using data on 5 700 breast-cancer cases from a hospital-based registry. Only 50 and 15% of tumours with early age at onset below 35 years present one or the other 2 discriminant parameters respectively. Consequently, whereas the probability of finding a BRCA1 mutation is rated low (6.2%) when the sole criterion of early onset up to the age of 35 years is used, based on our model, in the sub-group of women with a tumor that is both estrogen-receptor-negative and poorly differentiated the mutation-detection rate is predicted to be above the 10% chance level recommended by the ASCO guidelines. This sub-group of women, representing about 1% of all breast-cancer cases in Western countries, consequently deserves to be tested.