Análisis de mutaciones en los genes BRCA1 y BRCA2 en pacientes con cáncer de mama y ovario del norte de Portugal y Galicia

Duarte, F.; Cameselle-Teijeiro, Jorge F; Soares, Raquel; Seixas, Cecília; Cortizo-Torres, M.E.; Pérez-Villanueva, J; Schmitt, Fernando

doi:10.1016/s0014-2565(02)71047-3

Cited by 8 publications

(4 citation statements)

References 20 publications

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“…Inherited cancer predisposition could be linked to BRCA1 and BRCA2 mutations in 22 of the 100 probands (and in 24.7% of those with a family history of cancer), which is in agreement with previous reports in other populations that have used similar criteria for referral to genetic counselling and testing [8,16,17]. This prevalence of BRCA1/ BRCA2 mutations is higher than that previously reported in Portuguese families with inherited predisposition to breast/ovarian cancer (6.5%) [9,10], presumably due to the use in those earlier studies of less sensitive diagnostic techniques and/or less specific selection criteria for DNA testing.…”

Section: Discussionsupporting

confidence: 90%

“…No study has previously reported mutation screening of the entire coding regions of BRCA1 and BRCA2 or large genomic rearrangements of BRCA1 in Portugal, as only selected exons have been analysed [9,10]. To determine the best strategy for molecular testing of Portuguese breast/ovarian cancer families, we attempted to identify the type and frequency of BRCA1 (including exonic deletions/duplications) and BRCA2 germline mutations in 100 breast/ovarian cancer patients referred to genetic counselling and testing at our institution.…”

Section: Introductionmentioning

confidence: 99%

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BRCA1 and BRCA2 germline mutational spectrum and evidence for genetic anticipation in Portuguese breast/ovarian cancer families

et al. 2006

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We present the first characterisation of the mutational spectrum of the entire coding sequences and exon-intron boundaries of the BRCA1 and BRCA2 genes as well as large BRCA1 rearrangements in Portuguese families with inherited predisposition to breast/ovarian cancer. Of the 100 probands studied, pathogenic mutations were identified in 22 (24.7%) of 89 breast and/or ovarian cancer families with more than one affected member (15 in BRCA1 and seven in BRCA2), but in none of the 11 patients without family history of cancer. One (6.7%) of the BRCA1 mutations is a large deletion involving exons 11-15. Seven pathogenic point mutations are novel: 2088C>T, 2156delinsCC, and 4255_4256delCT in BRCA1 and 4608_4609delTT, 5036delA, 5583_5584insT, and 8923C>T in BRCA2. The novel 2156delinsCC was identified in three probands from different families and probably represents a founder mutation in our population. We also found a previously reported 3450_3453del4 mutation in three unrelated patients. In addition to the 22 pathogenic mutations, we identified 19 missense mutations of uncertain pathogenic significance, three of them (5241G>C in BRCA1 and IVS6+13C>T and 3731T>C in BRCA2) previously undescribed. The percentage of cases with truncating mutations in BRCA1 and BRCA2 was higher in breast/ovarian cancer (37.0%, mostly BRCA1) and male breast cancer (40%, all BRCA2) families than in families with only female breast cancer (17.5%). Interestingly, we found evidence for genetic anticipation regarding age at diagnosis of both breast and ovarian cancer in those families presenting affected members in more than one generation. These findings should be taken into consideration while planning screening and prophylactic measures in families with inherited predisposition to breast and ovarian cancer.

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Section: Discussionsupporting

confidence: 90%

Section: Introductionmentioning

confidence: 99%

BRCA1 and BRCA2 germline mutational spectrum and evidence for genetic anticipation in Portuguese breast/ovarian cancer families

et al. 2006

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“…Las mutaciones germinales son responsables de cerca del 10% de los tumores malignos de este carcinoma. Se han descrito cerca de 460 diferentes mutaciones en el gen BRCA1 y cerca de 200 en el gen BRCA2, la mayoría de estas mutaciones (80%) originan un codón de parada que lleva a la síntesis de una proteína truncada (Lengyel, 2010;Duarte et al, 2002).…”

Section: Brca2unclassified

Interacción de factores ambientales y genéticos asociados el desarrollo del cáncer de ovario

Capistros¹,

Capistros²,

Echeverría³

et al. 2017

REMCB

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El cáncer de ovario es la neoplasia maligna ginecológica más letal debido a su asintomatología y etapa avanzada de diagnóstico. La tasa de incidencia a nivel mundial es de 6,3 por cada 100.000 mujeres, presentando las tasas más altas en zonas geográficas industrializadas como Europa (10,1), América del Norte (8,7) y Oceanía (7,6). Entre los factores de riesgo asociados con el desarrollo de este cáncer se encuentran: edad avanzada, niveles descontrolados de carga hormonal, obesidad, antecedentes familiares de cáncer, exposición a agentes carcinogénicos, presencia de agentes patógenos y mutaciones genéticas. Con respecto al perfil genético, la presencia de mutaciones en los diferentes biomarcadores moleculares (supresores de tumores, oncogenes, genes de apoptosis y reparadores del ADN) aumenta el riesgo de desarrollar cáncer de ovario. Entre los genes más representativos están: BRCA1, BRCA2, TP53, RAD51 y VDR. Además, el correcto tratamiento de esta enfermedad dependerá del estadio tumoral, edad, capacidad de absorción de fármacos, histopatología, carga hormonal y perfil genético. Entre los tratamientos más aplicados se encuentra la cirugía, los medicamentos homeopáticos; la aplicación de fármacos, la aplicación de micro ARNs y de inhibidores multicinasas. En conclusión, el desarrollo del cáncer (ovario) dependerá de la interacción de cuatro variables relevantes: (1) el tiempo y (2) la dosis de exposición a los carcinógenos, (3) la edad avanzada, y (4) la predisposición genética. Es decir, los factores ambientales asociados con los factores genéticos predisponen al desarrollo de cáncer.

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“…Nestas populações específicas, devido à provável origem comum da mutação, o rastreamento pode ser mais direcionado, diminuindo os custos da pesquisa. Recente estudo identificou uma alteração no BRCA1 exon 5 (Arg71Gly) em famílias com história de câncer de mama hereditário do Norte da Espanha, província de Galícia, por análise Single Strand Conformation Polymorphism (SSCP) (DUARTE et al, 2002). No entanto, a maioria das mutações nos genes BRCA1 e BRCA2 tem distribuição geográfica distinta e está atualmente sob investigação (HARBER e FEARON, 1998;JARA et al, 2002;.…”

Section: Detecção De Mutaçõesunclassified

Carcinoma de mama hereditario em mulheres brasileiras

Düfloth¹

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Análisis de mutaciones en los genes BRCA1 y BRCA2 en pacientes con cáncer de mama y ovario del norte de Portugal y Galicia

Cited by 8 publications

References 20 publications

BRCA1 and BRCA2 germline mutational spectrum and evidence for genetic anticipation in Portuguese breast/ovarian cancer families

BRCA1 and BRCA2 germline mutational spectrum and evidence for genetic anticipation in Portuguese breast/ovarian cancer families

Interacción de factores ambientales y genéticos asociados el desarrollo del cáncer de ovario

Carcinoma de mama hereditario em mulheres brasileiras

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