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Controversies about the safety of different postmenopausal hormone therapies (HTs) started 30 years ago and reached a peak in 2003 after the publication of the results from the Women Health Initiative (WHI) trial and the Million Women Study (MWS) [Writing group for the women's health initiative investigations. Risks and benefits of estrogen plus progestin in healthy postmenopausal women. JAMA 2002;288:321-33; Million women study collaborators. Breast cancer and hormone-replacement therapy in the million women study. Lancet 2003;362:419-27]. The single HT formulation used in the WHI trial for non hysterectomized women-an association of oral conjugated equine estrogens (CEE-0.625 mg/day) and a synthetic progestin, medroxyprogesterone acetate (MPA-2.5 mg/day)-increases the risks of venous thromboembolism, cardiovascular disease, stroke and breast cancer. The MWS, an observational study, showed an increased breast cancer risk in users of estrogens combined with either medroxyprogesterone acetate (MPA), norethisterone, or norgestrel. It is unclear and questionable to what extent these results might be extrapolated to other HRT regimens, that differ in their doses, compositions and administration routes, and that were not assessed in the WHI trial and the MWS. Significant results were achieved with the publication of the WHI estrogen-only arm study [Anderson GL, Limacher M, Assaf AR, et al. Effects of conjugated equine estrogen in postmenopausal women with hysterectomy: the Women's Health Initiative randomized controlled trial. JAMA 2004;291:1701-1712] in which hormone therapy was reserved to women who had carried out hysterectomy. What emerged from this study will allow us to have some important argument to develop.

Almost 10% of breast and ovarian cancers are familial, and the majority are linked to BRCA1 and BRCA2 germline mutations. Despite uncertainty about the management of female gene carriers, consensus guidelines have been established to assist practitioners and consultees in making health care decisions.The Ad Hoc Committee was composed of 14 experts appointed by the French National Institute for Health and Medical Research, all of whom attended eleven workshops at which more than 3500 articles were systematically analyzed. Five additional experts critically analysed the first version of the report. CRITERIA AND DECISION PROCESS: On a probability scale of the risk of developing breast or ovarian cancers, two thresholds were defined for use in determining whether an intervention would be worthwhile. The first is the threshold above which an intervention can be envisaged or recommended, and the second is the one below which an intervention can be ruled out; between the two, the decision has to be made on a case-by-case basis. SCREENING AND PREVENTIVE STRATEGIES ANALYZED: With respect to breast cancer: 1) hormonal interventions; 2) primary prevention (diet, family planning and chemoprevention); 3) screening (breast self-examination, clinician breast examination, tumor markers, imaging); 4) prophylactic mastectomy. With respect to ovarian cancer: 1) hormonal stimulation; 2) screening (clinical screening, ultrasound and tumor markers); 3) prophylactic oophorectomy.For each strategy the following points were addressed: the information to be given to the consultee, the procedure and the indications. In addition, the committee's opinion about BRCA1 and BRCA2 mutation screening is that population-based, or even large-scale, implementation are not justified. Although no scientific evidence is available, the committee feels that specific management is indispensable and advocates the use of defined and evaluated procedures, and participation in clinical trials.

Face à l'incertitude des effets des cancers et des traitements antinéoplasiques sur la spermatogenèse, la conservation de sperme préalablement à tout traitement chez l'homme en âge de procréer est le seul moyen de protéger, dans la mesure du possible, ses chances de procréation. L'analyse de l'information des patients lors de cette prise en charge est le but de ce travail. Il permet ainsi d'aborder à travers la relation médecin-malade le délicat problème de l'information donnée sur le cancer, sur l'infertilité induite et sur l'autoconservation de sperme. D'éventuels dysfonctionnements dans cette relation complexe, nous semblent porteurs d'une réflexion éthique utile en pratique quotidienne. En effet, alors que les patients attendent majoritairement un langage de vérité, la présentation du contrat de soins et les informations apportées par les cancérologues et les médecins du CECOS (Centre d'étude et de conservation des œufs et du sperme humains) ne sont pas correctement perçus. A long terme ces éléments pourraient expliquer l'absence de pérennité de la relation médecin-malade. L'amélioration de la qualité de cette relation nous apparaît indispensable face à une pratique où les responsabilités du praticien et du patient sont engagées dans le temps. Améliorer le lieu de parole et les documents écrits d'information apparaissent ici être des réponses nécessaires pour permettre des choix responsables, non seulement à court et moyen termes (pour l'observance des thérapeutiques), mais aussi à long terme (pour le devenir des paillettes et la connaissance de la qualité du sperme après traitements). Ces réponses appellent une démarche conjointe des cancérologues, des praticiens du CECOS et des médecins généralistes lors de la prise en charge des jeunes hommes cancéreux.

To characterize mutations in the CYP21B gene that are responsible for congenital adrenal hyperplasia (CAH), DNA samples from 91 French patients have been studied by allelic-specific oligonucleotide hybridization and Southern blot analysis. Seven sites mostly found in the CYP21A pseudogene and deletions of the functional CYP21B gene have been screened. Gene conversions involving small DNA segments accounted for 57% of the tested mutations and probably cause 74% of the mutations responsible for the disease. Complete deletion of the CYP21B gene accounted for 18% of the CAH mutations in the whole sample and for 21% in the classical form of the disease. Three mutations were found associated with specific clinical forms of the disease: a G-C substitution in the seventh exon was associated with the late-onset form of the disease, and both an 8-bp depletion in the third exon and complete deletion of CYP21B were associated with the salt-wasting form.