Mismatch Repair Deficiency in Colorectal Cancers: Is Somatic Genomic Testing the Grab-Bag for All Answers? EDITORIALS

Source: Journal of Clinical Oncology - Category: Cancer & Oncology Authors: Tags: Translational Oncology, Hereditary Cancers & Genetic Predisposition EDITORIALS Source Type: research

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Authors: Melloul S, Mosnier JF, Masliah-Planchon J, Lepage C, Le Malicot K, Gornet JM, Edeline J, Dansette D, Texereau P, Delattre O, Laurent Puig P, Taieb J, J-F E Abstract SMARCB1 is a tumor suppressor gene, which is part of SWI/SNF complex involved in transcriptional regulation. Recently, loss of SMARCB1 expression has been reported in gastrointestinal carcinomas. Our purpose was to evaluate the incidence and prognostic value of SMARCB1 loss in colon carcinoma (CC). Patients with stage III CC (n= 1695), and a second cohort of 23 patients with poorly differentiated CC were analyzed. Immunohistochemistry for SMARC...
Source: Cancer Biomarkers - Category: Cancer & Oncology Tags: Cancer Biomark Source Type: research
Conclusions: Pediatric CRC presented advanced disease and poor prognosis. These tumors had distinct histologic and molecular presentations, resembling features from different carcinogenic pathways, thus suggesting a heterogenous nature.
Source: Journal of Pediatric Hematology Oncology - Category: Hematology Tags: Original Articles Source Type: research
CONCLUSION: Our data show that fluorouracil-based adjuvant chemotherapy does not work for dMMR cases, if not worse. Autophagy inhibition and/or immune checkpoint inhibition might be promising alternative strategies for gastric cancer treatment. IMPLICATIONS FOR PRACTICE: The use of microsatellite instability (MSI) and mismatch repair (MMR) as predictive biomarkers for adjuvant chemotherapy in colorectal cancer has caused a paradigm shift in cancer therapy, although its implications in gastric cancer are still questionable. The data obtained in the current study indicate that MSI-MMR is an independent prognostic factor...
Source: The Oncologist - Category: Cancer & Oncology Authors: Tags: Oncologist Source Type: research
The objective of this study was to evaluate B vitamins and methionine in relation to colorectal cancer risk in a Chinese population. A case-control study was conducted from July 2010 to April 2019. A total of 2502 patients with colorectal cancer were recruited along with 2538 age (5-year interval) and sex matched controls. Dietary data was collected by using a validated food frequency questionnaire. Multivariable logistic regression was used to assess odds ratios (ORs) and 95% confidence interval (CI). The intake of folate, vitamin B2, vitamin B6 and vitamin B12 was inversely associated with colorectal cancer risk. The mul...
Source: The British Journal of Nutrition - Category: Nutrition Authors: Tags: Br J Nutr Source Type: research
This study aimed to demonstrate the impact of elective major abdominal surgery and subsequent postoperative delirium on quality of life (QOL; primary outcome), cognitive functioning and depressive symptoms (secondary outcomes) in older surgical patients.Method: A single-centre, longitudinal prospective cohort study was conducted between November 2015 and June 2018, including patients ≥70 years old who underwent surgery for colorectal cancer or an abdominal aortic aneurysm. They were followed-up at discharge and at 6 and 12 months postoperatively until June 2019. QOL was assessed with the World Health Organ...
Source: Aging and Mental Health - Category: Geriatrics Authors: Tags: Aging Ment Health Source Type: research
Muir-Torre syndrome is a rare subtype of Lynch syndrome characterized by coincidence of skin neoplasm and visceral malignancies. Here, we report a case of this rare disease, whose diagnosis of the syndrome was first suspected by the pathologist. This was a 60-yr-old woman who presented with an axillary skin nodule, which was diagnosed as basal cell carcinoma. Further inquiry revealed that she was hospitalized for evaluation of a recurrent vaginal stump endometrial carcinoma. Histologic workup and immunohistochemistry for mismatch repair proteins of both the skin and vaginal tumor suggested the possibility of Muir-Torre syn...
Source: International Journal of Gynecological Pathology - Category: Pathology Tags: Pathology of the Corpus: Case Reports Source Type: research
CONCLUSIONS: A DNA repair gene score may predict patients likely to have poor response to chemoradiation. This score may be a relevant tool to be investigated in future studies focused on chemoradiation used in the context of organ preservation. See Video Abstract at http://links.lww.com/DCR/B104. PREDICCIÓN DE RESPUESTA DEFICIENTE A LA RADIO-QUIMIOTERAPIA NEOADYUVANTE EN PACIENTES CON CÁNCER RECTAL UTILIZANDO UNA PUNTUACIÓN DE DESREGULACIÓN DE REPARACIÓN DE ADN: ESCOGER LOS PERDEDORES EN LUGAR DE LOS GANADORES ANTECEDENTES: Los pacientes con cáncer rectal pueden someterse a ...
Source: Diseases of the Colon and Rectum - Category: Gastroenterology Tags: Original Contributions: Colorectal Cancer Source Type: research
ConclusionThe patient presented represents the first reported case where both next generation sequencing (NGS) forBRCA LOH and MMR IHC testing of her breast cancer were performed and underscores the importance of using NGS including the reported mutational allelic frequency (MAF) and IHC use to predict the likely responsiveness to the recently approved PARP inhibitors and checkpoint inhibitor therapies (Robson et al in N Engl J Med 377:523 –533, 2017, Lemery et al in 377(15):1409–1412,https://doi.org/10.1056/NEJMp1709968, 2017), key because the gatekeeper transforming event for tumors related to inherited cance...
Source: Breast Cancer Research and Treatment - Category: Cancer & Oncology Source Type: research
In conclusion, the concept of an epigenetic clock is compelling, but caution should be taken in interpreting associations with age acceleration. Association tests of age acceleration should include age as a covariate. A Discussion of Recent Work on Allotopic Expression of Mitochondrial Genes at the SENS Research Foundation https://www.fightaging.org/archives/2020/02/a-discussion-of-recent-work-on-allotopic-expression-of-mitochondrial-genes-at-the-sens-research-foundation/ A paper published last month outlines recent progress on allotopic expression of mitochondrial genes carried out by the SENS Research ...
Source: Fight Aging! - Category: Research Authors: Tags: Newsletters Source Type: blogs
io PR Abstract It is paramount to identify patients whose cancer is associated with genetic susceptibility to the disease, since their long-term management depends on it. Anatomical and molecular pathologists play a key role in the process. Indeed, their diagnosis supports or even sometimes warrants germline genetic testing. For example, a colorectal cancer with mismatch repair protein expression loss suggests Lynch syndrome, while a rare type of renal cell carcinoma with fumarate hydrate expression loss is highly evocative of hereditary leiomyomatosis and renal cell carcinoma syndrome. Similarly, the presence of ...
Source: Annales de Pathologie - Category: Pathology Authors: Tags: Ann Pathol Source Type: research
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