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Total 244 results found since Jan 2013.

Co-Occurrence of Familial Non-Medullary Thyroid Cancer (FNMTC) and Hereditary Non-Polyposis Colorectal Cancer (HNPCC) Associated Tumors —A Cohort Study
Familial non-medullary thyroid cancer (FNMTC) is a form of endocrine malignancy exhibiting an autosomal dominant mode of inheritance with largely unknown germline molecular mechanism. Hereditary nonpolyposis colorectal cancer syndrome (HNPCC) is another hereditary autosomal dominant cancer syndrome which, if proven to be caused by germline mutations in mismatch repair genes (MMR)—MLHL, MSH2, MSH6, PMS2, and EPCAM—is called Lynch syndrome (LS). LS results in hereditary predisposition to a number of cancers, especially colorectal and endometrial cancers. Tumors in LS are characterized by microsatellite instability (M...
Source: Frontiers in Endocrinology - July 13, 2021 Category: Endocrinology Source Type: research

The survival of patients with Stage III Colon Cancer is improved in HNPCC compared with sporadic cases. A Danish registry based study
ConclusionHNPCC patients with stage III CC have a better OS compared with sporadic CC. Within HNPCC subgroups, no significant difference in OS was found.© 2013 The Authors. Colorectal Disease © 2013 The Association of Coloproctology of Great Britain and Ireland
Source: Colorectal Disease - January 26, 2013 Category: Gastroenterology Authors: Line Merrild Brixen, Inge Thomsen Bernstein, Steffen Bülow, Eva Ehrnrooth Tags: Original Article Source Type: research

Continuing difficulties in interpreting CNV data: lessons from a genome-wide CNV association study of Australian HNPCC/lynch syndrome patients
Background: Hereditary non-polyposis colorectal cancer (HNPCC)/Lynch syndrome (LS) is a cancer syndrome characterised by early-onset epithelial cancers, especially colorectal cancer (CRC) and endometrial cancer. The aim of the current study was to use SNP-array technology to identify genomic aberrations which could contribute to the increased risk of cancer in HNPCC/LS patients. Methods: Individuals diagnosed with HNPCC/LS (100) and healthy controls (384) were genotyped using the Illumina Human610-Quad SNP-arrays. Copy number variation (CNV) calling and association analyses were performed using Nexus software, with signifi...
Source: BMC Medical Genomics - March 26, 2013 Category: Genetics & Stem Cells Authors: Bente Talseth-PalmerElizabeth HollidayTiffany-Jane EvansMark McEvoyJohn AttiaDesma GriceAmy MassonCliff MeldrumAllan SpigelmanRodney Scott Source Type: research

Tumoral expression of nuclear cofactor FHL2 is associated with lymphatic metastasis in sporadic but not in HNPCC-associated colorectal cancer.
CONCLUSIONS: We recently demonstrated that enhanced nuclear FHL2 expression in tumor stroma of sporadic colon cancer is associated with lymphatic metastasis. The results of the present study indicate a synergistic effect of nuclear cofactor FHL2 in tumor cells as well as in peritumoral stroma cells promoting lymphatic metastasis in sporadic CRC. As HNPCC-associated tumors did not show a significant association between tumoral nuclear FHL2 expression and lymphatic metastasis we speculate, that the intensive lymphocytic immune response in HNPCC precludes a direct contact of tumor cells and stromal cells resulting in reduced ...
Source: Pathology, Research and Practice - December 11, 2014 Category: Pathology Authors: Al-Nomani L, Friedrichs J, Schüle R, Büttner R, Friedrichs N Tags: Pathol Res Pract Source Type: research

Enhanced Tumoral MLH1-Expression in MLH1-/PMS2-Deficient Colon Cancer Is Indicative of Sporadic Colon Cancer and Not HNPCC.
This study analyzed semiquantitatively whether the MLH1 staining pattern might be indicative of sporadic or HNPCC-associated colorectal cancer. Using a semiquantitative score ranging from 0 (negative) to 12 (maximum immunopositivity) we analyzed MLH1 expression patterns in 130 MLH1-/PMS2-deficient colorectal cancers. The collective consisted of 70 HNPCC-associated colorectal cancers and 60 sporadic colon cancers. In tumor cells of 70 HNPCC-associated colorectal cancers, 64 cases (91.43%) showed no MLH1 staining, 5 cases weak (7.14%) and 1 case (1.43%) stronger staining intensity. In contrast, in tumor cells of 60 sporadic ...
Source: Pathology Oncology Research - January 6, 2019 Category: Pathology Authors: Tarancón-Diez M, Büttner R, Friedrichs N Tags: Pathol Oncol Res Source Type: research

Tumoural expression of nuclear cofactor FHL2 is associated with lymphatic metastasis in sporadic but not in HNPCC-associated colorectal cancer
Conclusions We recently demonstrated that enhanced nuclear FHL2 expression in tumour stroma of sporadic colon cancer is associated with lymphatic metastasis. The results of the present study indicate a synergistic effect of nuclear cofactor FHL2 in tumour cells as well as in peritumoural stroma cells promoting lymphatic metastasis in sporadic CRC. As HNPCC-associated tumours did not show a significant association between tumoural nuclear FHL2 expression and lymphatic metastasis we speculate, that the intensive lymphocytic immune response in HNPCC precludes a direct contact of tumour cells and stromal cells resulting in red...
Source: Pathology Research and Practice - December 12, 2014 Category: Pathology Source Type: research

Tumoral expression of nuclear cofactor FHL2 is associated with lymphatic metastasis in sporadic but not in HNPCC-associated colorectal cancer
Conclusions We recently demonstrated that enhanced nuclear FHL2 expression in tumor stroma of sporadic colon cancer is associated with lymphatic metastasis. The results of the present study indicate a synergistic effect of nuclear cofactor FHL2 in tumor cells as well as in peritumoral stroma cells promoting lymphatic metastasis in sporadic CRC. As HNPCC-associated tumors did not show a significant association between tumoral nuclear FHL2 expression and lymphatic metastasis we speculate, that the intensive lymphocytic immune response in HNPCC precludes a direct contact of tumor cells and stromal cells resulting in reduced lymphatic spread.
Source: Pathology Research and Practice - December 18, 2014 Category: Pathology Source Type: research

Defining HNPCC and Lynch syndrome: what's in a name?
Dear Sir, In June 2013, the Mallorca Group published revised guidelines for the clinical management of Lynch syndrome.1 In the title, HNPCC (Hereditary NonPolyposis Colorectal Cancer) is equated with Lynch syndrome, continuing a misuse of terms that has fuelled confusion for many years. The two terms describe different, although overlapping, diseases: the distinction is critical to an accurate understanding of hereditary colorectal cancer. HNPCC is defined clinically, usually as families satisfying Amsterdam I or II criteria.2 Lynch syndrome is defined genetically, by the presence of a germline mutation in DNA mismatch rep...
Source: Gut - August 3, 2014 Category: Gastroenterology Authors: Kravochuck, S. E., Kalady, M. F., Burke, C. A., Heald, B., Church, J. M. Tags: PostScript Source Type: research

Management of ovarian and endometrial cancers in women belonging to HNPCC carrier families: review of the literature and results of cancer risk assessment in Polish HNPCC families
Conclusions Due to the increased risk of OC and absence of any benefit from gynecological screening reported in the literature it is recommended that prophylactic oophorectomy for female carriers of MMR mutations after 35 year of age should be considered as a risk reducing option. Annual transvaginal ultrasound supported by CA125 or HE4 marker testing should be performed after prophylactic surgery in these women. Due to the high risk of EC it is reasonable to offer, after the age of 35 years, annual clinical gynecologic examinations with transvaginal ultrasound supported by routine aspiration sampli...
Source: Hereditary Cancer in Clinical Practice - January 16, 2015 Category: Cancer & Oncology Source Type: research

Association of a let-7 miRNA binding region of TGFBR1 with hereditary mismatch repair proficient colorectal cancer (MSS HNPCC)
The purpose of this study was to identify novel colorectal cancer (CRC)-causing alleles in unexplained familial CRC cases. In order to do so, coding regions in five candidate genes (MGMT, AXIN2, CTNNB1, TGFBR1 and TGFBR2) were sequenced in 11 unrelated microsatellite-stable hereditary non-polyposis CRC (MSS HNPCC) cases. Selected genetic variants were genotyped in a discovery set of 27 MSS HNPCC cases and 85 controls. One genetic variant, rs67687202, in TGFBR1 emerged as significant (P = 0.002), and it was genotyped in a replication set of 87 additional MSS HNPCC-like cases and 338 controls where it was also significantly ...
Source: Carcinogenesis - July 29, 2016 Category: Cancer & Oncology Authors: Xicola, R. M., Bontu, S., Doyle, B. J., Rawson, J., Garre, P., Lee, E., de la Hoya, M., Bessa, X., Clofent, J., Bujanda, L., Balaguer, F., Castellvi-Bel, S., Alenda, C., Jover, R., Ruiz-Ponte, C., Syngal, S., Andreu, M., Carracedo, A., Castells, A., Newco Tags: Original Manuscript Source Type: research

Segmental versus extended colectomy in the management of HNPCC; a systematic review and meta‐analysis
ConclusionsThe optimal surgical approach in the management of HNPCC remains unclear. More adenomas and cancers occur after segmental colectomy than after total colectomy but there certainly isn't evidence to suggest that more radical surgery leads to improved survival.This article is protected by copyright. All rights reserved.
Source: Colorectal Disease - December 16, 2014 Category: Gastroenterology Authors: Helen M Heneghan, Sean T Martin, Desmond C Winter Tags: Systematic Review Source Type: research

PD-L1 expression in HNPCC-associated colorectal cancer.
CONCLUSION: A subset of HNPCC-associated colorectal cancers in this study clearly showed PD-L1 expression of tumor epithelia and immune cells, therefore, the detection of PD-L1 status is useful. PMID: 29033182 [PubMed - as supplied by publisher]
Source: Pathology, Research and Practice - September 18, 2017 Category: Pathology Authors: Shiraliyeva N, Friedrichs J, Buettner R, Friedrichs N Tags: Pathol Res Pract Source Type: research

Clinicopathological and genetic features of Chinese hereditary nonpolyposis colorectal cancer (HNPCC)
Abstract The aim of this study was to investigate the clinical value of different criteria and to understand the relationship between genotype and phenotype in Chinese hereditary nonpolyposis colorectal cancer (HNPCC). A total of 116 unrelated probands of suspected HNPCC families from the Fudan Colorectal Registry were studied. A total of 32, 28, and 56 families fulfilled the Amsterdam criteria, the Fudan criteria and the revised Bethesda guideline, respectively. Direct DNA sequencing of all exons of hMSH2 and hMLH1 genes were performed on all 116 samples. Mutations and clinicopathological features were compared ...
Source: Medical Oncology - September 13, 2014 Category: Cancer & Oncology Source Type: research

PD-L1 expression in HNPCC-associated colorectal cancer
Conclusion A subset of HNPCC-associated colorectal cancers in this study clearly showed PD-L1 expression of tumor epithelia and immune cells, therefore, the detection of PD-L1 status is useful.
Source: Pathology Research and Practice - September 19, 2017 Category: Pathology Source Type: research

Mo1717 HOW TO CREATE AN ELECTRONIC DATABASE FOR HNPCC (LYNCH SYNDROME) FROM EXISTING SOFTWARE PROGRAMS: MD ANDERSON CANCER CENTER HNPCC SURVEILLANCE OUTCOMES, A STEP TOWARDS ESTABLISHING QUALITY METRICS FOR HIGH RISK CANCER PATIENTS
A European multicenter group was the first to calculate cumulative cancer incidence rates in patients with HNPCC stratified by mutation and patient demographics. As a step toward U.S. collaboration, we retrospectively evaluated existing clinical software programs to create our HNPCC database. This database was prospectively queried to calculate surveillance outcomes to help establish quality metrics in this field.
Source: Gastrointestinal Endoscopy - May 30, 2018 Category: Gastroenterology Authors: Selvi Thirumurthi, Mala Pande, Phillip Lum, Sarah A. Bannon, Maureen Mork, Miguel A. Rodriguez-Bigas, Y. Nancy You, Eduardo Vilar Sanchez, Patrick M. Lynch Tags: Monday abstract Source Type: research