Hereditary non-polyposis colorectal cancer — morphologies, genes and mutations

Jass, Jeremy R.; Stewart, Susan M.; Stewart, Jonathan; Lane, M. R.

doi:10.1016/0027-5107(94)90016-7

Cited by 131 publications

(76 citation statements)

References 27 publications

Supporting

Mentioning

Contrasting

Unclassified

Order By: Relevance

“…262 This frequency was higher than in other hematologic malignancies. One possibility is that MSI in ATLL is associated with the progression rather than the initiation of the disease, similar to what occurs in colon and gastric cancers [263][264][265][266][267][268] and the blastic crisis of CML. 258 The predisposition to lymphoid tumors was reported in MLH1-, MSH2-and PMS2-deficient mice.…”

Section: Role Of Dna Mismatch Repair Genesmentioning

confidence: 99%

Role of tumor suppressor genes in the development of adult T cell leukemia/lymphoma (ATLL)

Hatta

Koeffler

2002

Leukemia

View full text Add to dashboard Cite

show abstract

Section: Role Of Dna Mismatch Repair Genesmentioning

confidence: 99%

Role of tumor suppressor genes in the development of adult T cell leukemia/lymphoma (ATLL)

Hatta

Koeffler

2002

Leukemia

View full text Add to dashboard Cite

show abstract

“…The adenomas also occur at younger age, have a predilection for the proximal colon, are larger and do more often display high-grade dysplasia and villous components. [1][2][3] The hallmark of HNPCCassociated tumors-defective mismatch repair-is in the tumor tissue reflected as microsatellite instability and loss of immunostaining for the mismatch repair protein affected. 4,5 Mismatch repair defects are found in about 15% of sporadic colorectal cancer and in 490% of HNPCC-associated cancers.…”

mentioning

confidence: 99%

Loss of mismatch repair protein immunostaining in colorectal adenomas from patients with hereditary nonpolyposis colorectal cancer

et al. 2005

View full text Add to dashboard Cite

Colorectal adenomas occur at younger age, at increased frequency and have a greater tendency for malignant transformation in patients with hereditary nonpolyposis colorectal cancer (HNPCC). We performed immunostaining for the mismatch repair proteins MLH1, PMS2, MSH2 and MSH6 in 35 colorectal adenomas from 26 patients with HNPCC and identified loss of immunostaining in 23/35 (0.66) adenomas. Loss of mismatch repair protein immunostaining was particularly frequent in large (45 mm) (14/16) and proximally located (13/15) adenomas, whereas the gene mutated-MLH1 or MSH2-and the type of mutation did not seem to affect the results. We conclude that loss of mismatch repair protein immunostaining is detected at a lower rate in adenomas than in carcinomas associated with HNPCC. Adenomatous tissue can thus be used for immunostaining of mismatch repair proteins in clinical investigations of HNPCC, but whereas loss of immunostaining may pinpoint the gene affected and thereby guide mutation analysis, retained staining cannot exclude that the adenoma developed as part of the syndrome due to reduced sensitivity. However, the analysis has a greater chance of being informative if large and proximally located adenomas are selected.

show abstract

“…No entanto, tais síndromes respondem por apenas 5 % dos CCR. A história familial deve sempre ser obtida com atenção para detectar possíveis pacientes com estas síndromes e submetê-los a exames de rastreamento com colonoscopia [1][2][3][4][5][6][7][8][9][10][11][12] .…”

Section: Discussionunclassified

“…Nestes casos, observa-se o surgimento da neoplasia em idades mais precoces, em média aos 45 anos, e predileção pelo cólon direito . 2,4,5,6 .…”

Section: Introductionunclassified

“…Nestes casos, observa-se o surgimento da neoplasia em idades mais precoces, em média aos 45 anos, e predileção pelo cólon direito . 2,4,5,6 .A história familial e a faixa etária abaixo de 50 anos podem fornecer dados importantes para a presença da síndrome de Lynch. No entanto, o número reduzido e de registro adequado das famílias atuais, pode dificultar o diagnóstico, baseando-se apenas na história…”

unclassified

See 1 more Smart Citation

História familial e câncer colorretal em idade precoce: deve-se indicar colectomia estendida?

Bonardi¹,

Sartor

Baldin³

et al. 2006

Rev bras. colo-proctol.

View full text Add to dashboard Cite

INTRODUÇÃOO câncer colorretal (CCR) é a terceira causa mais comum de mortes por câncer 1,2 . A hereditariedade é responsável por 3 a 5% dos casos de câncer colo-retal.2,3. A Síndrome de Lynch, também conhecida como HNPCC (câncer colorretal hereditário não polipóide), representa modelo importante deste mecanismo. Nestes casos, observa-se o surgimento da neoplasia em idades mais precoces, em média aos 45 anos, e predileção pelo cólon direito . 2,4,5,6 .A história familial e a faixa etária abaixo de 50 anos podem fornecer dados importantes para a presença da síndrome de Lynch. No entanto, o número reduzido e de registro adequado das famílias atuais, pode dificultar o diagnóstico, baseando-se apenas na história

show abstract

Hereditary non-polyposis colorectal cancer — morphologies, genes and mutations

Cited by 131 publications

References 27 publications

Role of tumor suppressor genes in the development of adult T cell leukemia/lymphoma (ATLL)

Role of tumor suppressor genes in the development of adult T cell leukemia/lymphoma (ATLL)

Loss of mismatch repair protein immunostaining in colorectal adenomas from patients with hereditary nonpolyposis colorectal cancer

História familial e câncer colorretal em idade precoce: deve-se indicar colectomia estendida?

Contact Info

Product

Resources

About