List of works - Cristina Albuquerque

A case of multiple gastrointestinal stromal tumors caused by a germline KIT gene mutation (p.Leu576Pro).

scientific article published on 22 October 2016

APC or MUTYH mutations account for the majority of clinically well-characterized families with FAP and AFAP phenotype and patients with more than 30 adenomas.

scientific article

Aggressive phenotype of MYH-associated polyposis with jejunal cancer and intra-abdominal desmoid tumor: report of a case.

scientific article

Association of colonic and endometrial carcinomas in Portuguese families with hereditary nonpolyposis colorectal carcinoma significantly increases the probability of detecting a pathogenic mutation in mismatch repair genes, primarily the MSH2 gene.

scientific article published in July 2004

BRAF, KRAS and PIK3CA mutations in colorectal serrated polyps and cancer: primary or secondary genetic events in colorectal carcinogenesis?

scientific article published on 9 September 2008

Bethesda criteria for microsatellite instability testing: impact on the detection of new cases of Lynch syndrome

scientific article published on 01 December 2012

Colonic cancer in a 34-yr-old woman: should it prompt microsatellite instability studies and mismatch repair gene testing?

article

Colorectal cancers show distinct mutation spectra in members of the canonical WNT signaling pathway according to their anatomical location and type of genetic instability

scientific article published on 01 August 2010

Detection of mutations in mismatch repair genes in Portuguese families with hereditary non-polyposis colorectal cancer (HNPCC) by a multi-method approach

article

Distinct patterns of KRAS mutations in colorectal carcinomas according to germline mismatch repair defects and hMLH1 methylation status

scientific article published on 4 August 2004

Familial colorectal cancer type X syndrome: two distinct molecular entities?

scientific article published on 01 December 2011

Microsatellite instability in non-neoplastic mucosa of patients with ulcerative colitis: effect of folate supplementation

scientific article published on 01 November 1998

Polymethoxylated Flavones Target Cancer Stemness and Improve the Antiproliferative Effect of 5-Fluorouracil in a 3D Cell Model of Colorectal Cancer

scientific article published on 02 February 2019

Serrated polyposis associated with a family history of colorectal cancer and/or polyps: The preferential location of polyps in the colon and rectum defines two molecular entities

scientific article published on 05 July 2016

Seven Novel Mutations in the APC Gene of Portuguese Families with Familial Adenomatous Polyposis

article

Sporadic colorectal cancer: Studying ways to an end.

scientific article published on 6 August 2015

Targeting Colorectal Cancer Proliferation, Stemness and Metastatic Potential Using Brassicaceae Extracts Enriched in Isothiocyanates: A 3D Cell Model-Based Study.

scientific article

The muir-torre syndrome: a rare variant of hereditary nonpolyposis colorectal cancer associated with hmsh2 mutation

scientific article published on 01 September 1998

Validation and simplification of Bethesda guidelines for identifying apparently sporadic forms of colorectal carcinoma with microsatellite instability

scientific article published on 01 February 1999

Whole-gene APC deletions cause classical familial adenomatous polyposis, but not attenuated polyposis or "multiple" colorectal adenomas

scientific article

Wnt Signalling-Targeted Therapy in the CMS2 Tumour Subtype: A New Paradigm in CRC Treatment?

scientific article published on 01 January 2018

[Familial colorectal cancer type X: clinical, pathological and molecular characterization]

scientific article published on 01 May 2009

[Genetic diagnosis of familial adenomatous polyposis: detection of APC gene mutations based on an in vitro synthetized protein]

scientific article published on 01 January 1998

[MYH associated polyposis: severe phenotype in the homozygosity for the 1103delC mutation]

scientific article published on 01 May 2007

[Need of new clinical criteria for the identification of genetic Lynch syndrome]

scientific article published on 01 November 2007

List of works by Cristina Albuquerque

A case of multiple gastrointestinal stromal tumors caused by a germline KIT gene mutation (p.Leu576Pro).

APC or MUTYH mutations account for the majority of clinically well-characterized families with FAP and AFAP phenotype and patients with more than 30 adenomas.

Aggressive phenotype of MYH-associated polyposis with jejunal cancer and intra-abdominal desmoid tumor: report of a case.

Association of colonic and endometrial carcinomas in Portuguese families with hereditary nonpolyposis colorectal carcinoma significantly increases the probability of detecting a pathogenic mutation in mismatch repair genes, primarily the MSH2 gene.

BRAF, KRAS and PIK3CA mutations in colorectal serrated polyps and cancer: primary or secondary genetic events in colorectal carcinogenesis?

Bethesda criteria for microsatellite instability testing: impact on the detection of new cases of Lynch syndrome

Colonic cancer in a 34-yr-old woman: should it prompt microsatellite instability studies and mismatch repair gene testing?

Colorectal cancers show distinct mutation spectra in members of the canonical WNT signaling pathway according to their anatomical location and type of genetic instability

Detection of mutations in mismatch repair genes in Portuguese families with hereditary non-polyposis colorectal cancer (HNPCC) by a multi-method approach

Distinct patterns of KRAS mutations in colorectal carcinomas according to germline mismatch repair defects and hMLH1 methylation status

Familial colorectal cancer type X syndrome: two distinct molecular entities?

Microsatellite instability in non-neoplastic mucosa of patients with ulcerative colitis: effect of folate supplementation

Polymethoxylated Flavones Target Cancer Stemness and Improve the Antiproliferative Effect of 5-Fluorouracil in a 3D Cell Model of Colorectal Cancer

Serrated polyposis associated with a family history of colorectal cancer and/or polyps: The preferential location of polyps in the colon and rectum defines two molecular entities

Seven Novel Mutations in the APC Gene of Portuguese Families with Familial Adenomatous Polyposis

Sporadic colorectal cancer: Studying ways to an end.

Targeting Colorectal Cancer Proliferation, Stemness and Metastatic Potential Using Brassicaceae Extracts Enriched in Isothiocyanates: A 3D Cell Model-Based Study.

The muir-torre syndrome: a rare variant of hereditary nonpolyposis colorectal cancer associated with hmsh2 mutation

Validation and simplification of Bethesda guidelines for identifying apparently sporadic forms of colorectal carcinoma with microsatellite instability

Whole-gene APC deletions cause classical familial adenomatous polyposis, but not attenuated polyposis or "multiple" colorectal adenomas

Wnt Signalling-Targeted Therapy in the CMS2 Tumour Subtype: A New Paradigm in CRC Treatment?

[Familial colorectal cancer type X: clinical, pathological and molecular characterization]

[Genetic diagnosis of familial adenomatous polyposis: detection of APC gene mutations based on an in vitro synthetized protein]

[MYH associated polyposis: severe phenotype in the homozygosity for the 1103delC mutation]

[Need of new clinical criteria for the identification of genetic Lynch syndrome]