12 research outputs found

    Common breast cancer susceptibility alleles are associated with tumor subtypes in BRCA1 and BRCA2 mutation carriers: results from the Consortium of Investigators of Modifiers of BRCA1/2.

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    CA72-4 e CEA no soro e no lavado peritonial de doentes com câncer gástrico CA72-4 and CEA in serum and peritoneal washing in gastric cancer

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    Racional - O tratamento e o prognóstico dos pacientes com câncer gástrico dependem, principalmente, do estádio clínico. Os marcadores tumorais séricos e do lavado peritonial podem auxiliar a avaliar o risco de recurrência da doença. Casuística e Métodos - Quarenta pacientes com câncer gástrico (11 estádio I ou II e 29 estádio III ou IV) e 24 com doença benigna foram estudados prospectivamente. Todos os doentes foram submetidos a laparotomia. O sangue e o lavado peritonial foram colhidos durante o ato cirúrgico, antes da retirada do tumor, para determinação dos marcadores CEA e CA72-4. Resultados - Vinte e cinco por cento e 47,5% dos pacientes com câncer gástrico apresentam elevação dos níveis séricos de CEA e CA72-4. Através das curvas ROC definiram-se os valores de corte dos marcadores no lavado peritonial. Através destas curvas, observaram-se que 60% e 57,5% apresentavam CEA e CA72-4 elevado, respectivamente no grupo com câncer gástrico. Os valores de CEA e CA72-4 foram maiores nos pacientes estádios III e IV. No lavado peritonial, os níveis de CEA foram maiores nos doentes com tumores T3-4. Os valores de CA72-4 no lavado peritonial diferenciaram o grupo controle do grupo com câncer gástrico. Conclusão - O CA72-4 foi o marcador sérico mais sensível no diagnóstico de câncer gástrico. Entretanto, no lavado peritonial, o marcador mais sensível foi o CEA. Os valores de CEA foram superiores nos tumores que ultrapassam a serosa e inferiores nos tumores que se restringem a mucosa e muscular.<br>Background - The treatment and the prognosis of gastric cancer patients depends mainly on clinical stage. Serum and peritoneal tumoral markers levels can be helpful to evaluate individual risk for recurrence. Aims - To evaluate the sensibility of the tumoral markers in the serum and in the peritoneal washing on diagnosis of gastric cancer. Patients and Methods - Forty patients with adenocarcinoma of the stomach (11 stage I or II and 29 III or IV) and 24 patients with benign diseases were studied prospectively. All of them were submitted to laparotomy. Blood and peritoneal washed was collected during surgery before tumoral resection, for determination of CEA and CA72-4. Results - CEA and CA 72-4 serum levels were elevated in 25% and 47,5% respectively. Through the curves ROC, we defined the cut-off values for the markers in washed peritoneal fluid. Through these values CEA and CA72-4 rose in 60% and 57.5% respectively. The values of CEA and of CA 72-4 in the serum and in washed peritoneal fluid were higher in cancer patients stage III and IV. CEA levels in the peritoneal washed fluid were higher in the patients with tumor T3-4. Washed peritoneal CA72-4 differed the control group from the cancer group. Conclusion - CA72-4 was the most sensitive marker in the serum of the patients with gastric cancer. Otherwise in the washing peritoneal fluid the most sensitive marker was CEA. These levels were higher in patients with surpass the serosa and lower in patients with mucosa or muscular tumors

    Common breast cancer susceptibility alleles are associated with tumour subtypes in BRCA1 and BRCA2 mutation carriers: results from the Consortium of Investigators of Modifiers of BRCA1/2

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    Introduction: Previous studies have demonstrated that common breast cancer susceptibility alleles are differentially associated with breast cancer risk for BRCA1 and/or BRCA2 mutation carriers. It is currently unknown how these alleles are associated with different breast cancer subtypes in BRCA1 and BRCA2 mutation carriers defined by estrogen (ER) or progesterone receptor (PR) status of the tumour. Methods: We used genotype data on up to 11,421 BRCA1 and 7,080 BRCA2 carriers, of whom 4,310 had been affected with breast cancer and had information on either ER or PR status of the tumour, to assess the associations of 12 loci with breast cancer tumour characteristics. Associations were evaluated using a retrospective cohort approach. Results: The results suggested stronger associations with ER-positive breast cancer than ER-negative for 11 loci in both BRCA1 and BRCA2 carriers. Among BRCA1 carriers, single nucleotide polymorphism (SNP) rs2981582 (FGFR2) exhibited the biggest difference based on ER status (per-allele hazard ratio (HR) for ER-positive = 1.35, 95% CI: 1.17 to 1.56 vs HR = 0.91, 95% CI: 0.85 to 0.98 for ER-negative, P-heterogeneity = 6.5 x 10(-6)). In contrast, SNP rs2046210 at 6q25.1 near ESR1 was primarily associated with ER-negative breast cancer risk for both BRCA1 and BRCA2 carriers. In BRCA2 carriers, SNPs in FGFR2, TOX3, LSP1, SLC4A7/NEK10, 5p12, 2q35, and 1p11.2 were significantly associated with ER-positive but not ER-negative disease. Similar results were observed when differentiating breast cancer cases by PR status. Conclusions: The associations of the 12 SNPs with risk for BRCA1 and BRCA2 carriers differ by ER-positive or ER-negative breast cancer status. The apparent differences in SNP associations between BRCA1 and BRCA2 carriers, and non-carriers, may be explicable by differences in the prevalence of tumour subtypes. As more risk modifying variants are identified, incorporating these associations into breast cancer subtype-specific risk models may improve clinical management for mutation carriers
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