Tumor Tissue Screening Helps Spot Lynch SyndromeTumor Tissue Screening Helps Spot Lynch Syndrome

Checking for Lynch syndrome (LS) via germline mutations in mismatch repair (MMR) genes appears to be an effective and cost-saving strategy in patients with colorectal cancer (CRC), researchers say. Reuters Health Information
Source: Medscape Medical News Headlines - Category: Consumer Health News Tags: Hematology-Oncology News Source Type: news

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ConclusionThese results indicate that there is scope to further increase provision of advice at FCCs to ensure that all carriers receive recommendations about evidence-based risk management. A multi-pronged behaviour change and implementation science approach tailored to specific barriers is likely to be needed to achieve optimal clinician behaviours and outcomes for carriers.
Source: Familial Cancer - Category: Cancer & Oncology Source Type: research
AbstractGermline pathogenic variants in the DNA mismatch repair genes (MMR):MLH1,MSH2,MSH6, andPMS2, are causative of Lynch syndrome (LS). However, many of the variants mapping outside the invariant splice site positions (IVS  ± 1, IVS ± 2) are classified as variants of unknown significance (VUS). Three such variants (MLH1 c.588+5G>C, c.588+5G>T and c.677+5G>A) were identified in 8 unrelated LS families from Argentina, Brazil and Chile. Herein, we collected clinical information on these families and performed segregation analysis and RNA splicing studies to assess the impl...
Source: Familial Cancer - Category: Cancer & Oncology Source Type: research
In conclusion, somatic mutational signatures suggest that conventional MMR status of tumor tissues is likely to underestimate the significance of the predisposing MMR defects as contributors to breast tumorigenesis in LS. PMID: 32292574 [PubMed]
Source: Oncotarget - Category: Cancer & Oncology Tags: Oncotarget Source Type: research
Mismatch repair deficiency (MMRD) is involved in the initiation of both hereditary and sporadic tumors. MMRD has been extensively studied in colorectal cancer and endometrial cancer, but not so in other tumors, such as ovarian carcinoma. We have determined the expression of mismatch repair proteins in a large cohort of 502 early-stage epithelial ovarian carcinoma entailing all the 5 main subtypes: high-grade serous carcinoma, endometrioid ovarian carcinoma (EOC), clear cell carcinoma (CCC), mucinous carcinoma, and low-grade serous carcinoma. We studied the association of MMRD with clinicopathologic and immunohistochemical ...
Source: The American Journal of Surgical Pathology - Category: Pathology Tags: Original Articles Source Type: research
Abstract Lynch syndrome (LS), is an autosomal dominant disorder predisposing patients to multiple cancers, predominantly colorectal (CRC) and endometrial, and is implicated in 2-4% of all CRC cases. LS is characterized by mutations of four mismatch repair (MMR) genes which code for proteins responsible for recognizing and repairing DNA lesions occurring through multiple mechanisms including oxidative stress (OS). Increased OS can cause DNA mutations and is considered carcinogenic. Due to reduced MMR activity, LS patients have an increased risk of cancer as a result of a decreased ability to recognize and repair DN...
Source: Nutrition and Cancer - Category: Cancer & Oncology Authors: Tags: Nutr Cancer Source Type: research
AbstractWe investigated the prevalence and characteristics of defective mismatch repair (dMMR) in colorectal cancer (CRC) patients who would potentially benefit from anti-programmed cell death protein 1 (PD-1) immunotherapy. Medical records were obtained and reviewed for 1147 patients who underwent surgical resection of stage I –IV CRC, in whom universal screening for Lynch syndrome using immunohistochemistry for MMR proteins had been undertaken. The molecular characteristics of dMMR CRCs were also investigated. Defective MMR accounted for 5.2% of stage I–IV CRC patients, including 12 (1.0% of all CRC patients)...
Source: Surgery Today - Category: Surgery Source Type: research
ra Maria Claudia Nogueira Zerbini Francisco Tibor Denes Ana Claudia Latronico Berenice Bilharinho Mendonca Madson Queiroz Almeida Antonio Marcondes Lerario Ibere Cauduro Soares Maria Candida Barisson Villares Fragoso Adrenocortical cancer is a rare malignant neoplasm associated with a dismal prognosis. Identification of the molecular pathways involved in adrenal tumorigenesis is essential for a better understanding of the disease mechanism and improvement of its treatment. The aim of this study is to define the prevalence of alterations in DNA mismatch repair (MMR) genes in Lynch syndrome among pediatri...
Source: Cancers - Category: Cancer & Oncology Authors: Tags: Article Source Type: research
PB, Shia J, Schultz N, Garcia-Aguilar J, Diaz LA, Goodman K, Saltz LB, Weiser MR, Smith JJ, Stadler ZK Abstract PURPOSE: Evaluate response of mismatch repair deficient (dMMR) rectal cancer to neoadjuvant chemotherapy. EXPERIMENTAL DESIGN: dMMR rectal tumors at Memorial Sloan Kettering were retrospectively reviewed for characteristics, treatment, and outcomes. Fifty dMMR rectal cancer patients were identified by immunohistochemistry and/or microsatellite instability analysis, with initial treatment response compared to a matched pMMR rectal cancer cohort. Germline and somatic mutation analyses were evaluated....
Source: Clinical Cancer Research - Category: Cancer & Oncology Authors: Tags: Clin Cancer Res Source Type: research
We present a 47-year-old woman with an MLH1 gene mutation (G133X 397G>T) who presented with menorrhagia. Eleven family members have this mutation, 6 with carcinoma: 5 colorectal and 1 with a gynecologic primary of unknown type. Colonoscopy and endoscopy were unremarkable. Positron emission and computed tomography revealed a 3 cm anterior dome bladder mass without additional extrauterine disease or uterine connection. She underwent partial cystectomy, laparoscopic hysterectomy, bilateral salpingo-oophorectomy, and lymphadenectomy. The uterus demonstrated a dedifferentiated endometrioid adenocarcinoma, immunohistochemical...
Source: Applied Immunohistochemistry and Molecular Morphology - Category: Chemistry Tags: Online Articles: Case Reports Source Type: research
CONCLUSIONS: Patients with loss of expression of PMS2 had a higher risk of mutation or deletion of APC and tumours with positive immunoexpression of cyclin D1 had an increased risk of loss of expression of MSH2. These results suggest that tumours with loss of expression of DNA repair proteins had a higher loss of cell control cycle.. PMID: 32102509 [PubMed - in process]
Source: Asian Pacific Journal of Cancer Prevention - Category: Cancer & Oncology Tags: Asian Pac J Cancer Prev Source Type: research
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