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1.
Horm Mol Biol Clin Investig ; 42(3): 321-324, 2021 Mar 31.
Artigo em Inglês | MEDLINE | ID: mdl-33787190

RESUMO

OBJECTIVES: To review non-surgical prevention strategies in women with hereditary breast and ovarian cancer syndromes. CONTENT: Women with a gBRCA1 or 2 mutations face a high cumulative breast and ovarian cancer risk. While bilateral mastectomy (PBM) and bilateral salpingo-oophrectomy (PBSO) profoundly reduce the respective cancer risks, they are also associated with considerable side effects. There is therefore an urgent need for alternative and non-surgical risk reduction options. Tamoxifen and aromatase inhibitors have both been evaluated in secondary prevention, but their benefit in primary prevention is currently unknown in BRCA mutation carriers. In addition, their use is compromised by their side effect profile which makes them less appealing for a use in chemoprevention. SUMMARY AND OUTLOOK: Denosumab is a well-tolerated osteoprotective drug, which has been demonstrated to have a potential preventive effect particularly in BRCA1-deficient models in vitro. The prospectively randomized double-blind BRCA-P trial is currently investigating the preventative effect of denosumab in healthy BRCA1 germ line mutation carriers.


Assuntos
Adiponectina/sangue , Biomarcadores/sangue , Síndrome Hereditária de Câncer de Mama e Ovário/sangue , Síndrome Hereditária de Câncer de Mama e Ovário/epidemiologia , Idoso , Proteína BRCA1/genética , Proteína BRCA2/genética , Biomarcadores Tumorais , Estudos Transversais , Suscetibilidade a Doenças , Predisposição Genética para Doença , Síndrome Hereditária de Câncer de Mama e Ovário/etiologia , Síndrome Hereditária de Câncer de Mama e Ovário/terapia , Humanos , Lipídeos/sangue , Pessoa de Meia-Idade , Mutação
2.
PLoS One ; 12(1): e0169673, 2017.
Artigo em Inglês | MEDLINE | ID: mdl-28060958

RESUMO

BACKGROUND: Risk-reducing salpingo-oophorectomy (RRSO) reduces ovarian cancer risk in BRCA1/2 mutation carriers. Premenopausal RRSO is hypothesized to increase fracture risk more than natural menopause. Elevated bone turnover markers (BTMs) might predict fracture risk. We investigated BTM levels after RRSO and aimed to identify clinical characteristics associated with elevated BTMs. METHODS: Osteocalcin (OC), procollagen type I N-terminal peptide (PINP) and serum C-telopeptide of type I collagen (sCTx) were measured in 210 women ≥ 2 years after RRSO before age 53. BTM Z-scores were calculated using an existing reference cohort of age-matched women. Clinical characteristics were assessed by questionnaire. RESULTS: BTMs after RRSO were higher than age-matched reference values: median Z-scores OC 0.11, p = 0.003; PINP 0.84, p < 0.001; sCTx 0.53, p < 0.001 (compared to Z = 0). After excluding women with recent fractures or BTM interfering medication, Z-scores increased to 0.34, 1.14 and 0.88, respectively. Z-scores for OC and PINP were inversely correlated to age at RRSO. No correlation was found with fracture incidence or history of breast cancer. CONCLUSIONS: Five years after RRSO, BTMs were higher than age-matched reference values. Since elevated BTMs might predict higher fracture risk, prospective studies are required to evaluate the clinical implications of this finding.


Assuntos
Osso e Ossos/metabolismo , Síndrome Hereditária de Câncer de Mama e Ovário/etiologia , Síndrome Hereditária de Câncer de Mama e Ovário/metabolismo , Ovariectomia , Salpingectomia , Adulto , Idoso , Biomarcadores , Reabsorção Óssea/metabolismo , Colágeno Tipo I/metabolismo , Feminino , Síndrome Hereditária de Câncer de Mama e Ovário/epidemiologia , Humanos , Pessoa de Meia-Idade , Osteocalcina/metabolismo , Fragmentos de Peptídeos/metabolismo , Peptídeos/metabolismo , Pró-Colágeno/metabolismo , Fatores de Risco , Comportamento de Redução do Risco
3.
Prog. obstet. ginecol. (Ed. impr.) ; 51(5): 311-315, mayo 2008.
Artigo em Espanhol | IBECS | ID: ibc-139886

RESUMO

Objetivo: El presente estudio pretende que el ginecólogo clínico tome conciencia de la existencia de tumores ginecológicos de aparición sincrónica en una misma paciente durante el proceso diagnóstico de una neoplasia ginecológica, sobre todo en casos de antecedentes de cáncer de tipo familiar. Se describen varios síndromes consistentes en la aparición de tumores de tipo familiar que facilitan la presencia de tumores ginecológicos sincrónicos. Sujetos y métodos: Se analiza la casuística del Hospital de Manacor desde 1997 hasta 2006. Resultados: Los casos de tumores ginecológicos sincrónicos suponen el 0,83% de los tumores intervenidos en el período estudiado. Conclusiones: Aunque infrecuentes, estos tumores ginecológicos sincrónicos deben de tenerse en cuenta para que no pasen inadvertidos, sobre todo en pacientes con historia de cáncer familiar o portadoras de algunos síndromes genéticos. Una exploración dirigida a eliminar la presencia de otra neoplasia, aparte de la que estamos diagnosticando, es conveniente (AU)


Objective: To alert clinicians to the possibility of synchronous tumors in patients with gynecological cancer. An important tool in diagnosis is the family history. We describe several familial syndromes involving the development of synchronous gynecological tumors. Subjects and methods: We studied all cases of synchronous gynecological tumors in the Manacor Hospital from 1997 to 2006. Results: Synchronous gynecologic tumors represented 0.83% of all gynecological neoplasms treated in our center in the period studied. Conclusions: This kind of tumor is uncommon but should be considered by clinicians, especially in women with a familial history of cancer or in those with certain genetic syndromes. Examination aimed at excluding the presence of synchronous tumors is recommended (AU)


Assuntos
Adulto , Idoso de 80 Anos ou mais , Idoso , Feminino , Humanos , Neoplasias Primárias Múltiplas/etiologia , Neoplasias Primárias Múltiplas/patologia , Neoplasias dos Genitais Femininos/etiologia , Neoplasias dos Genitais Femininos/genética , Síndromes Neoplásicas Hereditárias/diagnóstico , Síndromes Neoplásicas Hereditárias/etiologia , Síndrome Hereditária de Câncer de Mama e Ovário/etiologia , Neoplasias do Endométrio/diagnóstico , Monitoramento Epidemiológico/tendências , Segunda Neoplasia Primária/etiologia , Síndrome de Li-Fraumeni/etiologia , Síndrome do Hamartoma Múltiplo/etiologia , Neoplasias Colorretais Hereditárias sem Polipose , Síndrome de Lynch II , Pós-Menopausa , Metrorragia , Pré-Menopausa , Espanha/epidemiologia
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