Detection of DNA mismatch repair deficient crypts in random colonoscopic biopsies identifies Lynch syndrome patients

AbstractThe hallmark of Lynch syndrome (LS)-associated neoplasia is DNA mismatch repair protein (MMR) deficiency. Recent studies have demonstrated that histologically normal colonic crypts in patients with LS can exhibit deficient MMR expression. The aim of this study was to determine the feasibility of detecting MMR deficient crypts in random colonoscopic biopsies of normal mucosa in patients with and without LS. Forty-nine patients, including 33 with LS, 12 without LS, and 4 with germline MMR gene variants of uncertain significance (VUS), were prospectively and blindly evaluated by immunohistochemistry for MMR deficient crypts within random normal-appearing mucosal biopsies obtained during surveillance colonoscopy. MMR deficient crypts were identified in 70% (23/33) of patients with LS and in no patients without LS (0/12) (p  
Source: Familial Cancer - Category: Cancer & Oncology Source Type: research

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CONCLUSION: Extensive research have been carried out on various process for preparing Bortezomib and composition thereof. This type of dynamic research will clear the path for many generic players in the United States which lead in reduction of price of the composition and thereby enhancing global health care at cheaper prices. PMID: 32234004 [PubMed - as supplied by publisher]
Source: Recent Patents on Anti-Cancer Drug Discovery - Category: Cancer & Oncology Tags: Recent Pat Anticancer Drug Discov Source Type: research
Publication date: 4–10 April 2020Source: The Lancet, Volume 395, Issue 10230Author(s): The Lancet
Source: The Lancet - Category: General Medicine Source Type: research
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Source: Clinics - Category: General Medicine Source Type: research
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Source: Minimally Invasive Therapy and Allied Technologies - Category: Surgery Tags: Minim Invasive Ther Allied Technol Source Type: research
Authors: Okamura K, Bandai S, Fujikawa M, Sato K, Kitazono T Abstract The treatment of Graves' hyperthyroidism (GD) complicated with malignancy is challenging, as anti-thyroid thionamide drugs (ATDs) and anti-cancer chemotherapy are both associated with a risk of neutropenia. Treatment with conventional ATDs, radioactive iodine (RAI) or potassium iodide (KI) was attempted in 8 patients with malignancy (34-80 years of age; 2 males and 6 females) in whom GD had been fortuitously diagnosed during a detailed systematic examination. Three patients requiring surgery were initially treated conventionally with methylmercap...
Source: Endocrine Journal - Category: Endocrinology Tags: Endocr J Source Type: research
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Source: International Journal of Radiation Biology - Category: Radiology Tags: Int J Radiat Biol Source Type: research
Authors: Prieux-Klotz C, Dermine S, Palmieri LJ, Lavole J, Chaussade S, Brezault C, Coriat R Abstract Targeted therapy and oral chemotherapy indications are increasing in the realm of digestive oncology. Oral intake of cancer agents is sometimes compulsory (no i.v. equivalent) or is preferred by the patient or the physician. Although oral chemotherapy facilitates the treatment of oncology patients, the treatment diversity, risk of pharmaceutical interactions and monitoring of side effects are potentially challenging and need to be fully acknowledged by the physician. We offer here a literature review of the indicat...
Source: Oncology Reports - Category: Cancer & Oncology Tags: Oncol Rep Source Type: research
Authors: Hu W, Su Y, Fei X, Wang X, Zhang G, Su C, Du T, Yang T, Wang G, Tang Z, Zhang J Abstract Ubiquitin specific peptidase 19 (USP19) is a member of the USP family and exhibits diverse roles in various biological processes, such as cell differentiation, cell cycle progression and apoptosis. There is limited knowledge regarding the role and impact of USP19 in cancer, particularly clear cell renal cell carcinoma (ccRCC). To examine the function of USP19 in ccRCC, The Cancer Genome Atlas (TCGA) and Gene Expression Omnibus databases were examined to determine USP19 mRNA expression levels. USP19 mRNA levels were sig...
Source: Oncology Reports - Category: Cancer & Oncology Tags: Oncol Rep Source Type: research
Lynch Syndrome (LS) entails a defective DNA mismatch repair system, which is the post-replicative proofreading and editing system, ensuring our genome's integrity. LS predisposes to several cancers, most commonly colorectal and endometrial cancers. LS occurs in approximately 1 in 250 –1,000 people.LS is associated with urological malignancies with upper tract urothelial carcinoma the most common, although still clinically underestimated. Other urologic malignancies possibly associated with LS include bladder, prostate, testis, and renal cell carcinoma.
Source: Urology - Category: Urology & Nephrology Authors: Source Type: research
We describe a case of a 60-year-old woman undergoing surgery for known endometrial carcinoma. The patient also had a renal mass that was identified as clear cell renal cell carcinoma and an additional lesion in the colon that was a mucinous adenocarcinoma. Further genetic testing of the patient revealed a deleterious MSH6 mutation suggestive of Lynch syndrome. The patient had all tumors addressed by minimally invasive techniques at the same operative intervention. It is important to consider hereditary cancer syndromes in women with a strong family history presenting with synchronous multiple primary malignancies. A multid...
Source: Gynecologic Oncology Reports - Category: OBGYN Source Type: research
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