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PubMed1999

[An example of dominant inheritance in the transmission of chronic open-angle glaucoma. Apropos of an Algerian family].

BACKGROUND: The hereditary nature of chronic open-angle glaucoma (COAG) is recognized in 20 to 25% of the cases. Disease prevalence among relatives of patients with glaucoma is higher than in the general population. Several inheritance modes may co-exist. METHOD: Forty-seven members of a family living in eastern Algeria were studied. Three generations were examined. RESULTS: There were 15 cases of COAG (8 men and 7 women) in this family, i.e. 32% of the members. Affected members were aged from 23 to 80 years. DISCUSSION: An epidemiologic, clinical and genetic analysis of this family provided information concerning the transmission modes of COAG. CONCLUSION: It is highly likely that in this family, COAG was transmitted by autosomal dominant inheritance with strong penetrance. Genetic analysis excluded locus GLC1A mutation, confirming the heterogeneous nature of COAG inheritance.

Adult↗
PubMed1999

Women and inherited bleeding disorders: menstrual issues.

Von Willebrand, who described a bleeder family from Aland in 1926 in whom the index patient died at the fourth menses, stated, "the trait seems to be seen among women." Menorrhagia is defined objectively as a menstrual blood loss of at least 80 mL. However, even though 5% of women aged 30 to 49 years consult their general practitioner and 12% of gynecologic referrals are for menorrhagia, the diagnosis is difficult. A pictorial bleeding assessment chart (PBAC) has a specificity and sensitivity of more than 80%, with a score of > or = 100 being equivalent to more than 80 mL of blood loss. Using this chart to screen 150 women with menorrhagia who attended a gynecology clinic, an inherited bleeding disorder was diagnosed in 17%. Menorrhagia with onset at the menarche was predictive of an inherited bleeding disorder in 65% of von Willebrand's disease (vWD) and 67% of factor XI (FXI)-deficient patients. A retrospective survey in patients with inherited bleeding disorders using the PBAC showed menorrhagia in 74% of patients with vWD, 57% of carriers of hemophilia A or B, and 59% of FXI-deficient patients, compared with 29% of control individuals. Menorrhagia was the most common symptom in 60% of patients with FVII deficiency studied. Menorrhagia in women with bleeding disorders can be controlled with tranexamic acid with good effect. More recently, a desmopressin acetate (DDAVP) spray has been shown to achieve good FVIII and von Willebrand factor (vWF) levels and is efficacious for women with these deficiencies. The oral contraceptive pill may be useful. Since bleeding disorders are found in a substantial number of women with menorrhagia, it is important that such patients are investigated for these disorders before invasive procedures are done; hysteroscopy and hysterectomy in these patients are associated with a high rate of postoperative bleeding.

Family Health↗
PubMed1999

Electrophysiologic features of inherited demyelinating neuropathies: a reappraisal.

The observation that inherited demyelinating neuropathies tend to have uniform conduction slowing and acquired disorders (CIDP and variants) have nonuniform or multifocal slowing was made before the identification of genetic defects of specific myelin constituents that cause the different forms of Charcot-Marie-Tooth and other inherited disorders involving peripheral nerve myelin. It is becoming clear that the electrophysiologic aspects of these disorders are more complex than previously realized. We review the current information available on the electrophysiologic features of the inherited demyelinating neuropathies in hopes of clarifying the clinical electrodiagnostic features of these disorders as well as to shed light on the physiologic consequences of the different genetic mutations.

Charcot-Marie-Tooth Disease↗
PubMed2000

Inherited macrothrombocytopenia with distinctive platelet ultrastructural and functional features.

We report a family with inherited macrothrombocytopenia and characteristic large membrane complexes in the platelets. Two affected subjects had platelet counts of 40 and 65 x 10(9)/L respectively as assessed by contrast phase microscopy. Ultrastructural studies revealed giant spheroid platelets with characteristic large membrane complexes and/or giant vacuoles containing platelet organelles. Immunohistochemical studies of actin and tubulin showed a disorganization of the microtubule and actin systems. These abnormalities were absent in leukocytes, indicating a platelet-specific cytoskeleton disorder. Platelet autoantibodies were repeatedly absent. Nevertheless, in the peripheral blood we observed several figures of platelet phagocytosis by macrophages and neutrophils. The in vitro aggregometric response of platelets to ADP, collagen, thrombin, ristocetin was present, but shape change was absent. The urinary excretion of thromboxane A2 metabolites of the affected subjects were approximately 2 standard deviations above control values, in spite of a reduced maximal biosynthetic capacity of thromboxane from giant platelets assessed in vitro during whole blood clotting. This inherited platelet disorder shows structural and functional features which allow to distinguish it from other syndromes associated with giant platelets. We also propose to include ultrastructural and cytoskeletal studies in the diagnosis as well as in the classification of inherited giant platelet disorders.

Blood Platelets↗
PubMed1999

[Gene therapy for inherited diseases using heamatopoietic stem cells--gene therapy for patients with chronic granulomatous disease].

The possibility of gene therapy for inherited diseases with a single gene mutation in Figure 1 had been verified by the successful treatment with bone marrow transplantation. As the gene therapy method and theory has been progressing rapidly, it is expected that gene therapy will overcome the complications of bone marrow transplantation. Of these inherited diseases, chronic granulomatous disease (CGD) is the one of the most expected disease for gene therapy. CGD is an inherited immune deficiency caused by mutations in any of the following four phox genes encoding subunits of the superoxide generating phagocyte NADPH oxidase. It consists of membranous cytochrom b558 composed of gp91 phox and p22 phox, and four cytosolic components, p47 phox, p67 phox, rac p21 and p40 phox, which translocate to the membrane upon activation. In our group study, more than 220 CGD patients has been enrolled. The incidence of CGD patients was estimated as 1 out of 250,000 births. The expected life span of the CGD patients is 25 to 30 years old by the Kaplan Meier analysis. Comparing with the ratio of CGD subtype in US and Europe, that with p47phox deficiency is lower (less than 10%/o vs. 23%) and that of gp91 phox deficiency is higher (more than 75% vs. 60%). Prophylactic administration of ST antibiotics and IFN-gamma and bone marrow transplantation have been successfully employed in our therapeutic strategy. However, it is necessary to develop the gene therapy technology for CGD patients as more promising treatment. In the current study we constructed two retrovirus vectors; MFGS-gp91/293 SPA which contains only the therapeutic gp91 phox gene, a bicistronic retrovirus pHa-MDR-IRES-gp91/PA317 which carries a multi drug resistant gene (MDR1) and the gp91phox gene connected with an internal ribosome entry site (IRES). We demonstrate high efficiency transduction of gp 91 phox to CGD EB virus established cell line with high levels of functional correction of the oxidase by MFGS-gp91 and by pHa-MDR-IRES-gp91, respectively. We also demonstrate sufficient transduction of gp91 phox to CD34+ hematopoietic stem cell from the patients with gp91 phox deficiency by MFGS-gp91/293 SPA. Our current studies suggest that the combination of the 293-SPA packaging system and the bicistronic retrovirus system inserted MDR1 gene make our CGD gene therapy more feasible for clinical application.

Genes, MDR↗
PubMed2000

Inherited thrombophilia as a risk factor for the development of ischemic stroke in young adults.

INTRODUCTION: Several recent studies have analyzed a possible effect of thrombophilia risk factors such as factor V Leiden, the prothrombin variant (allele 20210 A), and homozygosity for thermolabile methylenetetrahydrofolate reductase (MTHFR-T) on the development of ischemic stroke (IS). In the present study, we determined the role of these prothrombotic polymorphisms in the early onset of arterial IS or cerebral venous thrombosis (CVT) in a group of young Brazilian adults of Caucasian and African descent. MATERIALS AND METHODS: We conducted a cross-sectional study of 167 survivors of IS (153 patients with arterial IS and 14 cases of CVT; 66 men: 101 women; 124 of Caucasian and 43 of African origin; median age: 32.6 years; range: 15 to 45 years) and compared the prevalence of inherited thrombophilia risk factors with a control group of 225 sex and age matched individuals of the same ethnic background. To determine the interaction with atherogenic risk factors, the following diagnoses were considered: hypertension, hyperlipoproteinemia, diabetes mellitus, smoking status and use of oral contraceptives. RESULTS: In the arterial IS group, no significant variation was found between patients and controls of Caucasian origin regarding the prevalence of factor V Leiden (P = 0.92), the prothrombin variant (P = 0.13) or homozygosity for MTHFR-T (P = 0.61). Among Brazilians of African descent, 10.3% were homozygous for MTHFR-T, which was significantly elevated, odds ratio of 5.9 (95% CI: 0.88 to 49.15). In the CVT group, two Caucasian patients (20%) were heterozygous for the prothrombin variant, odds ratio of 9.7 (95% CI: 0.95 to 89.71) and one patient was carrier of factor V Leiden (P = 0.49). No prothrombotic polymorphism was identified in patients with CVT of African descent. All women in the CVT group were in use of oral contraceptives or in the post-partum state. DISCUSSION: Inherited thrombophilia risk factors were not found to increase the risk of arterial IS among young patients of Caucasian descent. However, a potential role of homozygosity for MTHFR-T was observed in a small group of patients of African origin. The analysis of patients with CVT revealed an increased risk due to the prothrombin gene variant or oral contraceptive use. Further studies including all incoming patients with IS are necessary to evaluate the impact of inherited thrombophilia risk factors on early mortality.

Adolescent↗
PubMed2000

A preliminary approach to the theory of geographical gene genealogy for plant genomes with three different modes of inheritance and its application.

This paper extends to hermaphrodite outcrossing plant populations the existing gene genealogy theories for a sample of genes randomly chosen from geographically discrete or continuously distributed populations. Three plant genomes (nuclear, chloroplast and mitochondrial DNA) with different modes of inheritance are considered separately due to the difference in migration rates. It is shown that on certain assumptions, the previous coalescence theories can be applied to plant by appropriate reparametrization of the effective population size and migration rate specific to each genome. One result is that estimation of the ratio of pollen to seed flow from a sample of n (n > or = 2) individual genes can be obtained in terms of the number of segregating sites between and within populations that are discretely distributed in space. Another result of theoretical interest is that in the discrete model of population structure, mean coalescent time is the shortest for the paternally inherited genes (cpDNA in conifers) and, given certain conditions, is the longest for the maternally inherited genes (cpDNA in angiosperms and mtDNA in conifers and angiosperms). However, these results are difficult to obtain in the model of population that is continuously distributed in space.

Genome, Plant↗
PubMed2000

Paternal inheritance of chloroplast DNA in interspecific hybrids in the genus Larrea (Zygophyllaceae).

The mode of chloroplast DNA (cpDNA) inheritance was investigated in the genus Larrea (Zygophyllaceae) by polymerase chain reaction (PCR) amplification of cpDNA fragments using three pairs of chloroplast universal primers. A total of 20 F(1)s from interspecific crosses among five different taxa in the section Bifolium was examined. Twelve F(1)s were from six crosses between L. cuneifolia (4x) and L. divaricata (2x) (Peru or Argentina) or L. tridentata (2x or 4x). Eight F(1)s were from two sets of reciprocal crosses between L. divaricata (2x) (Argentina) and L. tridentata (2x). Length polymorphism was observed in all three regions of cpDNA that separated L. cuneifolia parents from L. divaricata and L. tridentata parents and in one of the three cpDNA regions that differentiated L. divaricata (Argentina) parents from L. tridentata (2x) parents. In each case, it was the paternal cpDNA marker that appeared in the F(1) individuals. This was further confirmed by restriction fragment length polymorphism (RFLP) analysis of the amplified cpDNA fragments. Larrea may be the fifth genus reported in angiosperms with a paternal bias in cpDNA transmission. Possible mechanisms that may result in paternal cpDNA inheritance were briefly reviewed. Based on the observed uniparental paternal inheritance of cpDNA, restriction analysis of the three cpDNA regions and previous cytogenetic studies, L. divaricata was probably the maternal progenitor of L. cuneifolia.

Journal Article↗
PubMed2000

A study of the inheritance of a bleeding disorder in Simmental cattle.

A study was designed to determine the inheritance pattern of a blood platelet aggregation disorder in Simmental cattle utilizing embryo transfer technology. A Simmental donor cow that had previously produced a calf with the platelet aggregation disorder was superovulated and mated to a bull that had also produced affected offspring. Twenty-seven calves were produced from the 63 (42.9%) embryos transferred. This somewhat lower than expected pregnancy rate is suggestive of an increased rate of embryo loss. Twenty-three of 25 (92%) calves had normal platelet aggregation patterns and 2 failed to show any evidence of platelet aggregation. Data are suggestive that inheritance is not simple Mendelian recessive. A more likely scenario is that the defect is the result of the inheritance of at least 2 genes, which is also consistent with the sporadic incidence reported in the population at large.

Animals↗
PubMed2000

[Familial Mediterranean fever with pseudodominant inheritance].

Familial Mediterranean fever (FMF) is an autosomal, recessively inherited disease, mainly affecting patients from the Mediterranean basin. Owing to the recessive transmission, the disease in most of the affected families only occurs in the members of one generation. However, high consanguinity rates in populations with carrier frequencies as much as 1:5 may account for the occurrence of FMF in two or more successive generations, so-called pseudodominant inheritance. We report a case of pseudodominant inheritance in a Turkish family living in Denmark.

Adult↗
PubMed2001

[Study on the mode of inheritance for familial polycystic ovary syndrome].

OBJECTIVE: To investigate the mode of inheritance of polycystic ovary syndrome(PCOS). METHODS: The first female relatives with irregular cycle and the first male relatives with premature balding in each nuclear family were designated the affected. Their prevalence rates in families were respectively calculated. Analyses of segregation ratio were carried out among 139 nuclear families with PCOS by the methods of simple segregation and complex segregation of genetic epidemiology, respectively. RESULTS: The prevalence rates of irregular cycle among mothers and sisters with PCOS were 37.4% and 33.1% respectively, and the prevalence rates of premature balding among fathers and brothers of patients were 19.4% and 6.5%, respectively. The simple segregation analysis indicated that the segregation ratio of PCOS trait in siblings was 0.3023, the complex segregation analysis indicated that it fitted in with the inheritance model of co-dominant disorder with full penetrance and sporadic cases. The frequency of homozygote of disease gene in population was 0.046. CONCLUSION: PCOS presents the mode of co-dominant inheritance with complete penetrance.

Female↗
PubMed2001

Risk of thrombosis associated with oral contraceptives of women from 97 families with inherited thrombophilia: high risk of thrombosis in carriers of the G20210A mutation of the prothrombin gene.

BACKGROUND AND OBJECTIVES: Oral contraceptives (OC) and inherited thrombophilia are well-known risk factors associated with venous thromboembolism (VTE). However, there are only few studies on the risk of VTE in women with inherited thrombophilia who use oral contraceptives. DESIGN AND METHODS: We performed a retrospective family cohort study of 325 women belonging to 97 families with inherited thrombophilia, including antithrombin, protein S and C deficiencies, the factor V Leiden mutation (FVL) and the G20210A mutation of the prothrombin gene (PT20210A) to determine the risk of VTE associated with OC intake. RESULTS: For carriers of the PT20210A mutation, the risk of VTE in OC users was 3-fold higher (95% CI 1.3-6.8) than that in non-carriers. Carriers of FVL mutation taking OC showed an OR of 1.4 (95% CI 0.6-3.3), indicating a tendency to increase the risk of VTE. INTERPRETATION AND CONCLUSIONS: Because of the high prevalence of the PT20210A (6.5%) and FVL (2%) mutations in the general Spanish population and the increased risk of VTE associated with OC intake, genetic screening for these mutations should be considered in potential OC users belonging to families with thrombophilia.

Adolescent↗
PubMed2001

[Development and expression process of inheritance of resistance to cotton worm (Prodenia litura) in soybeans].

Cotton worm [Prodenia litura(Fabricius)] was one of the major leaf-feeders for soybeans in Southern China. Resistance to leaf-feeders has been recognized as one of the major breeding target traits in the National Soybean Breeding Program. This paper deals with the study of inheritance of resistance of soybeans to cotton worm [Prodenia litura(Fabricius)]. P1, P2, F1, F2, F2:3 of four susceptible x resistant crosses, i.e. N21297 x N1178-2-2, N21266 x N23860, N119-1 x N1178-2-2 and N21266 x N3039, were used in the study. The materials were planted in net room under artificial infestation in 1996-1998. The data of defoliation percentage of successive development stages, during cotton worm damage period were obtained and collected for genetic analysis. The segregation analysis methods for major genes plus polygene mixed inheritance model developed by Gai et al. were used to identify the genetic system of resistance. The results from joint analyses of multiple segregating generations as well as from analyses of single F2 or F2:3 generations of the four crosses showed a two major genes plus polygene mixed inheritance model at fully developed stages of resistance while one or two major genes with or without polygene were observed at other stages. Between the two major genes, the additive effect of one locus was from 1.56 to 9.89(%, defoliation), another from -3.79 to 3.75(%, defoliation). The heritability values of major genes were estimated as 70.40%-99.21%, greater than those of polygene which were only 0.00%-22.29%. Therefore, in the improvement of resistance to cotton worm, major gene resistance should be considered at first.

Animals↗
PubMed2000

[Photoreceptor apoptosis and p53 gene expression in inherited retinal degeneration of RSC rats].

OBJECTIVE: To investigate the gene regulation of photoreceptor apoptosis in inherited retinal degeneration. METHOD: The retinas of inherited retinal degeneration in animal models of RCS (Royal College of Surgeons) rats, ranging from 13(th) to 60(th) postnatal days in age, were studied by TdT-mediated biotin-dUTP nickend labeling (TUNEL) for apoptosis, immunohistochemistry for p53 protein, in situ hybridization and reverse transcription-polymerase chain reaction (RT-PCR) for p53 mRNA. RESULTS: The photoreceptor of RCS rats underwent apoptosis from 25(th) postnatal day, and reached the highest level at 30 - 35(th) postnatal days. At the early stage of photoreceptor apoptosis, the level of p53 protein and mRNA in photoreceptors increased significantly. RT-PCR also showed that there was more production of p53 mRNA at 25 to 35(th) postnatal days in the retinas of RCS rats. CONCLUSION: P53 gene expression increases significantly at the early stage of photoreceptor apoptosis, indicating that p53 gene might play a role in the regulation of photoreceptor apoptosis in inherited retinal degeneration.

Animals↗
PubMed2002

Inherited thrombocytopenias: from genes to therapy.

BACKGROUND AND OBJECTIVES: Inherited thrombocytopenias are a heterogeneous group of rare diseases characterized by a reduced number of blood platelets. Some of these diseases are exclusive to megakaryocytes and platelets, while in others the pathology extends to other cell types. Although the defective genes, coding for membrane glyoproteins, cytoskeleton components and intracellular signaling pathways, as well as transcription factors, have been identified in most cases, the pathophysiology of these disorders is often unknown. This review describes recent contributions to clinical and diagnostic aspects, biology and treatments of familial thrombocytopenias. EVIDENCE AND INFORMATION SOURCES: The information presented here derives from literature and the experience of the authors. The most relevant studies are critically analyzed and discussed. STATE OF ART: The clinical and laboratory features of most of the inherited thrombocytopenias have been reviewed. The different forms have been classified into 3 groups depending on platelet volume. Although this criterion is not completely satisfactory, it is one of the most useful in diagnostic algorithms. We report on recent advances in Wiskott-Aldrich and Bernard-Soulier syndromes, as well as in MYH9-related diseases, a new nosological entity that groups old distinct forms known as May-Hegglin anomaly, Sebastian, Fetchner, and Epstein syndromes. Other, less frequent forms are also discussed, including non-syndromic forms of mild thrombocytopenia that are genetically heterogeneous. PERSPECTIVES: In the past, inherited thrombocytopenias were considered exceedingly rare and the number of well-defined forms was very small. In the last few years, the widespread diffusion of electronic cell counters has allowed these conditions to be detected more frequently and several new entities have been identified through the co-ordinated efforts of physicians, biologists and geneticists. The pathogenesis of many new and old forms is being unraveled, thus providing insights on the molecular basis of platelet production and function. This knowledge will be a valuable resource for clinicians in the diagnostic approaches to such disorders.

Abnormalities, Multiple↗
PubMed2002

[Acquired and inherited hypercoagulability among patients with cerebral venous thrombosis].

BACKGROUND: Cerebral venous thrombosis (CVT) is considered to be a relative unusual pathology, probably underdiagnosed. Many acquired and inherited hypercoagulability states (HS) have been described as cause of CVT. OBJECTIVE: [corrected] We evaluated the incidence of acquired and inherited thrombophilic risk factors in a population of CVT patients. METHODS: Hypercoagulability studies were to carried out for patients suffering from radiologically confirmed CVT during a 3 year period (1998-2000). Prothrombin time, aPTT, protein C, protein S and antithrombin III activities, screening and confirmatory tests for lupus anticoagulant (LA), and activated protein C resistance (APCR) were tested. Genetic tests for G1691A factor V (Factor V Leiden), G20210A prothrombin and C677T methylentetrahidrofolate reductase (MTHFR) were performed. Computer database was used for descriptive statistics. RESULTS: 16 patients with CVT (M/F, 6/10) were screened for inherited and acquired coagulation disorders. Mean age of 23.66 years with standard desviation of 19.74 years. Two older patients had antecedents of thrombosis (ischemic stroke and deep-vein thrombosis in leg). We found 1 heterocygosis factor V Leiden associated to LA, 2 heterocygosis G20210A prothrombin (one associated to LA), 2 homocygosis C677T MTHFR, 1 hereditary antithrombin III deficiency and 4 LA. COMMENTS: Although this is a small series, we found a high incidence of hereditary (37.5%) and acquired (37.5%) thrombophilia in patients with CVT.

Adolescent↗
PubMed2002

Inherited metabolic disorders in Thailand.

The study of inborn errors of metabolism (IEM) in Thailand is in its infancy. The majority are clinically diagnosed since there are only a handful of clinicians and scientists with expertise in inherited metabolic disorders, shortage of well-equipped laboratory facilities and lack of governmental financial support. Genetic metabolic disorders are usually not considered a priority due to prevalence of infectious diseases and congenital infections. From a retrospective study at the Medical Genetics Unit, Department of Pediatrics, Siriraj Hospital; estimated pediatrics patients with suspected IEM were approximately 2-3 per cent of the total pediatric admissions of over 5,000 annually. After more than 10 years of research and accumulated clinical experiences, a genetic metabolic center is being established in collaboration with expert laboratories both in Bangkok (Chulabhorn Research Institute) and abroad (Japan and the United States). Numerous inherited metabolic disorders were identified--carbohydrate, amino acids, organic acids, mitochondrial fatty acid oxidation, peroxisomal, mucopolysaccharidoses etc. This report includes the establishment of genetic metabolic center in Thailand, research and pilot studies in newborn screening in Thailand and a multicenter study from 5 institutions (Children's National Center, King Chulalongkorn Memorial Hospital, Pramongkutklao Hospital, Ramathibodi and Siriraj Hospitals). Inherited metabolic disorders reported are fructose-1,6-bisphosphatase deficiency, phenylketonuria, homocystinuria, nonketotic hyperglycinemia, urea cycle defect (arginino succinate lyase deficiency, argininosuccinate synthetase deficiency), Menkes disease, propionic acidemia and mucopolysaccharidoses (Hurler, Hurler-Scheie).

Adolescent↗
PubMed2003

[Clinical and molecular diagnosis of inherited breast-ovarian cancer].

OBJECTIVE: The aim of this work was to pinpoint familial breast and/or ovarian cancer risk. Clinical cancer genetics include: diagnostic cancer genetics, cancer genetic counseling and management of women at high risk of developing breast and/or ovarian cancer. MATERIAL AND METHODS: An update of documented data was performed in order to assess our current knowledge about inherited breast-ovarian cancer. RESULTS: Most breast cancers (BC) are sporadic while 5-10% are estimated to be due to an inherited predisposition. Rare autosomal dominant alteration in two genes, BRCA1 and BRCA2, which confer a high risk of developing BC and ovarian cancer (OC), are likely to account for most families with multiple cases of early-onset BC and OC, but only 3-4% of all BC. The estimations of their prevalence and penetrance vary greatly, depending on the population studied, the study design, statistical methods and the sensitivity of technical methods for detection of mutations. Penetrance can be very high, but incomplete (maximum 80%). Penetrance and age at onset of the same mutation show great variability within and between BC families. This could be due to the effects of other genetic as well as non-genetic factors that are being studied. The heterogeneity of families makes the identification of other high-risk genes difficult. Additive effects of several susceptibility genes could explain much more BC in the general population (polygenic models). Molecular diagnoses have become feasible. Specific consultations in oncogenetics help clinicians and patients understand hereditary components, establish molecular diagnoses, provide guidelines for a better surveillance of people at high risk of developing BC, OC or both and reassure the mutation non-carriers. The strategies of management and treatment of BC and OC in mutation carriers remain under discussion and it is is difficult to choose preventive options. CONCLUSION: Inherited BC or OC due to a mutation in BRCA1 or BRCA2 are rare in the general population. However, women and men have the right to be informed of the possibilities concerning presymptomatic testing, risk assessment, surveillance, prevention and psychological support with respect to the potential benefits and limitations. Other large prospective studies are needed to validate rapidly the methods of surveillance and prevention in this group at "high risk" in order to adapt them to very large populations. However, predictive medicine should be used with care.

Breast Neoplasms↗