Cowden disease: a cutaneous marker for increased risk of breast cancer.

Schweitzer, Simone; Hogge, Jacquelyn P.; Grimes, Michael C.; Bear, HD; Paredes, Ellen Shaw de

doi:10.2214/ajr.172.2.9930780

Cited by 13 publications

(44 citation statements)

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“…It is a very uncommon disease and is inherited in an autosomal dominant pattern. However, as it has a lower penetrance than BRCA mutations, a lower risk of cancer of around 30% is found [3][4][5].…”

Section: Discussionmentioning

confidence: 99%

“…Several disorders, including both benign and malignant conditions, have been previously reported. Concerning benignancy, several entities have been described in these patients such as nipple or areolar malformations, fibroadenomas, giant fibroadenomas, proliferative fibrocystic diseases including ductal hyperplasia and high-risk lesions such as atypical hyperplasia and lobular in situ carcinoma [3,4,7]. The association between multiple hamartomas or tubular adenomas, and Cowden syndrome has not been previously reported.…”

Section: Discussionmentioning

confidence: 99%

“…Cowden syndrome may also be associated with abnormalities in the central nervous system such as macrocephaly or gangliocytoma of the cerebellum (Lhermitte-Duclos disease) [1][2][3]. Several benign diseases involving the breast have been described in association with Cowden syndrome, but the most relevant clinical feature of patients with this disease is that they have a significantly increased risk of developing breast and thyroid carcinomas [3][4][5].…”

Section: Introductionmentioning

confidence: 99%

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Evaluation of breast involvement in relation to Cowden syndrome: a radiological and clinicopathological study of patients with PTEN germ-line mutations

et al. 2005

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We describe the clinical, radiological, and pathological findings of the diverse benign and malignant breast neoplasms found in association with Cowden syndrome. Patients with Cowden syndrome had a substantially increased risk of breast carcinoma. We find that 33% of the patients in our study population with Cowden disease have developed breast carcinoma to date. An association between Cowden disease and multiple tubular adenomas or breast hamartomas was found in two patients, suggesting a genetic origin. PTEN germ-line mutations were found in all four patients presenting with relevant benign or malignant breast pathology. We also assess the value of specific diagnostic tools used in the surveillance management. Screening mammography was useful in the diagnosis of small, high-grade carcinomas.

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Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

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Evaluation of breast involvement in relation to Cowden syndrome: a radiological and clinicopathological study of patients with PTEN germ-line mutations

et al. 2005

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“…In one third of cases, the breast carcinoma is bilateral. Fackenthal et al recently reported on two cases of breast carcinoma in male patients with CD [8][9][10][11].…”

Section: Discussionmentioning

confidence: 99%

Breast hamartoma: A Case Report

Gatti

Mazzarol

Simsek

et al. 2005

Breast Cancer Res Treat

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“…PTEN es un gen supresor de tumores que aparece mutado en el 80% de las familias con síndrome de Cowden (Nelen et al, 1996;Liaw et al, 1997). Las mujeres portadoras de mutación en PTEN tienen un riesgo del 25-50% de cáncer de mama a lo largo de la vida (Schweitzer et al, 1999).…”

Section: 12-ptenunclassified

Nuevas aportaciones a la caracterización de genes de susceptibilidad en cáncer de mama

Rodrigo¹

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Índice 6.-ESPECTRO MUTACIONAL DE BRCA1 Y BRCA2 40 6.1.-TIPOS DE MUTACIONES SEGÚN SU EFECTO FISIOPATOLÓGICO 41 6.1.1.-MUTACIONES PATOGÉNICAS 41 -ÍNDICE GENERAL -Índice 2 6.1.2.-MUTACIONES NEUTRALES O POLIMORFISMOS 43 6.1.3.-MUTACIONES DE SIGNIFICADO DESCONOCIDO 44 7.-IMPORTANCIA DEL DIAGNÓSTICO GENÉTICO 46 HIPÓTESIS DE TRABAJO Y OBJETIVOS 49 MATERIAL Y MÉTODOS 52 1.-PACIENTES EN ESTUDIO 53 2.-CONTROLES 55 3.-EXTRACCIÓN DE DNA 55 4.-AMPLIFICACIÓN DEL DNA 56 5.-PCR "EXTENDED" 63 6.-EXTRACCIÓN DE RNA Y RT-PCR 64 7.-ANÁLISIS DE LOS PRODUCTOS AMPLIFICADOS MEDIANTE CSGE 69 8.-DISCRIMINACIÓN ALÉLICA MEDIANTE dHPLC 70 9.-DISCRIMINACIÓN ALÉLICA MEDIANTE ENZIMAS DE RESTRICCIÓN 71 10.-SECUENCIACIÓN AUTOMÁTICA 74 11.-ANÁLISIS DE GRANDES ALTERACIONES GENÓMICAS MEDIANTE MLPA. 74 12.-PROGRAMAS BIOINFORMÁTICOS 79 RESULTADOS 85 1.-MUTACIONES PUNTUALES ENCONTRADAS EN BRCA1 Y BRCA2 86 1.1.-MUTACIONES PATOGÉNICAS 86 1.1.1.-MUTACIONES PATOGÉNICAS EN BRCA1 86 A) Cambios en el marco de lectura 87 B) Mutaciones sin sentido "nonsense" 88 C) Cambios de aminoácido patogénicos 89 D) Mutaciones que afectan a la maduración del mRNA 91 1.1.2.-MUTACIONES PATOGÉNICAS EN BRCA2 94 A) Cambios en el marco de lectura 94 B) Mutaciones sin sentido "nonsense" 97 1.2.-POLIMORFISMOS NEUTRALES 98 1.2.1.-POLIMORFISMOS DE BRCA1 99 1.2.2.-POLIMORFISMOS DE BRCA2 103 1.3.-VARIANTES SIN CLASIFICAR ("UVs") 108 1.3.1.-VARIANTES SIN CLASIFICAR DE BRCA1 108 1.3.2.-VARIANTES SIN CLASIFICAR DE BRCA2 110 2.-ESTUDIO PORMENORIZADO DE ALGUNAS VARIANTES SIN CLASIFICAR 112 2.1.-RASTREO DE LAS VARIANTES EN LA POBLACIÓN GENERAL 112 Índice 3 2.2.-SITUACIÓN DENTRO DE LA PROTEÍNA Y TIPO DE CAMBIO DE AMINOÁCIDO 116 2.3.-CONSERVACIÓN ENTRE ESPECIES 117 2.4.-ESTUDIOS "IN SILICO" 118 2.5.-ESTUDIO DEL PROCESAMIENTO DE mRNA 119 2.6.-PRESENCIA SIMULTÁNEA DE MUTACIONES PATOGÉNICAS CON LAS VARIANTES "UV" 124 2.7.-REVISIÓN BIBLIOGRÁFICA 124 3.-ESTUDIO DE GRANDES REORDENAMIENTOS EN BRCA1 Y BRCA2 127 DISCUSIÓN 130 1.-RESULTADOS DE LA BÚSQUEDA DE MUTACIONES PUNTUALES A) Variantes que pueden considerarse neutrales 156 B) Variantes con posible efecto patogénico 159 2.-GRANDES REESTRUCTURACIONES EN BRCA1 Y BRCA2 163 CONCLUSIONES 166 BIBLIOGRAFÍA 168 INTRODUCCIÓN

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Cowden disease: a cutaneous marker for increased risk of breast cancer.

Cited by 13 publications

References 2 publications

Evaluation of breast involvement in relation to Cowden syndrome: a radiological and clinicopathological study of patients with PTEN germ-line mutations

Evaluation of breast involvement in relation to Cowden syndrome: a radiological and clinicopathological study of patients with PTEN germ-line mutations

Breast hamartoma: A Case Report

Nuevas aportaciones a la caracterización de genes de susceptibilidad en cáncer de mama

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