RESUMO
Germline CDH1 mutations confer a high lifetime risk of developing diffuse gastric (DGC) and lobular breast cancer (LBC). A multidisciplinary workshop was organised to discuss genetic testing, surgery, surveillance strategies, pathology reporting and the patient's perspective on multiple aspects, including diet post gastrectomy. The updated guidelines include revised CDH1 testing criteria (taking into account first-degree and second-degree relatives): (1) families with two or more patients with gastric cancer at any age, one confirmed DGC; (2) individuals with DGC before the age of 40 and (3) families with diagnoses of both DGC and LBC (one diagnosis before the age of 50). Additionally, CDH1 testing could be considered in patients with bilateral or familial LBC before the age of 50, patients with DGC and cleft lip/palate, and those with precursor lesions for signet ring cell carcinoma. Given the high mortality associated with invasive disease, prophylactic total gastrectomy at a centre of expertise is advised for individuals with pathogenic CDH1 mutations. Breast cancer surveillance with annual breast MRI starting at age 30 for women with a CDH1 mutation is recommended. Standardised endoscopic surveillance in experienced centres is recommended for those opting not to have gastrectomy at the current time, those with CDH1 variants of uncertain significance and those that fulfil hereditary DGC criteria without germline CDH1 mutations. Expert histopathological confirmation of (early) signet ring cell carcinoma is recommended. The impact of gastrectomy and mastectomy should not be underestimated; these can have severe consequences on a psychological, physiological and metabolic level. Nutritional problems should be carefully monitored.
Assuntos
Caderinas/genética , Mutação em Linhagem Germinativa , Heterozigoto , Neoplasias Gástricas/genética , Antígenos CD , Neoplasias da Mama/diagnóstico , Neoplasias da Mama/epidemiologia , Neoplasias da Mama/genética , Neoplasias Colorretais/diagnóstico , Neoplasias Colorretais/epidemiologia , Neoplasias Colorretais/genética , Análise Mutacional de DNA , Detecção Precoce de Câncer/métodos , Feminino , Aconselhamento Genético , Testes Genéticos/métodos , Humanos , Vigilância da População , Guias de Prática Clínica como Assunto , Gravidez , Neoplasias Gástricas/diagnóstico , Neoplasias Gástricas/epidemiologiaRESUMO
OBJECTIVE: To describe nutritional intake and lifestyle factors in women planning pregnancy. STUDY DESIGN: A semi-quantitative, 1-month food frequency questionnaire and a questionnaire on health practices and personal views were filled out at home and verified by telephone interview. RESULTS: One hundred and one women agreed to participate and data of 69 women were eligible for evaluation. Women planning pregnancy (n=46) consumed significantly more saturated fats and proteins, less carbohydrates and higher median intakes of Vitamin A, thiamin, riboflavin, calcium, selenium, magnesium and iron than controls (n=23; P<0.05). However, the percentage of women planning pregnancy with intakes below recommended dietary allowances was 74% for iron, 59% for selenium, 48% for Vitamin A and 91% for copper. Ninety-six percent and 20% of them reported alcohol use and smoking, respectively. CONCLUSIONS: Nutritional intake of women in the preconception period appears to be inadequate. Efforts to increase awareness of a healthy diet and lifestyle before and throughout pregnancy should be continued.
