Microsatellite Instability: Diagnosis, Heterogeneity, Discordance, and Clinical Impact in Colorectal Cancer by Camille Evrard, Gaëlle Tachon, Violaine Randrian, Lucie Karayan-Tapon, David Tougeron

“…Tumor DNA mismatch repair (MMR) deficiency testing is important to the identification of Lynch syndrome and decision making regarding adjuvant chemotherapy in stage II colorectal cancer (CRC) and has become an indispensable test in metastatic tumors due to the high efficacy of immune checkpoint inhibitor (ICI) in deficient MMR (dMMR) tumors. …”
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Aspirin in the chemoprevention of colorectal neoplasia: an overview. by Chan, A, Arber, N, Burn, J, Chia, W, Elwood, P, Hull, M, Logan, R, Rothwell, P, Schrör, K, Baron, J

“…Aspirin has also been shown to be beneficial in a clinical trial of patients with Lynch syndrome, a hereditary CRC syndrome; in those treated with aspirin for at least two years, there was a 50% or more reduction in the risk of CRC commencing five years after randomization and after aspirin had been discontinued. …”

Hereditary Predisposition to Prostate Cancer: From Genetics to Clinical Implications by Andreia Brandão, Paula Paulo, Manuel R. Teixeira

“…Advances in DNA sequencing technologies have uncovered several moderate- to high-penetrance PrCa susceptibility genes, most of which have previously been related to known hereditary cancer syndromes, namely the hereditary breast and ovarian cancer (<i>BRCA1</i>, <i>BRCA2</i>, <i>ATM,</i> <i>CHEK2</i>, and <i>PALB2</i>) and Lynch syndrome (<i>MLH1</i>, <i>MSH2</i>, <i>MSH6</i>, and <i>PMS2</i>) genes. …”
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Genetic Predisposition to Colorectal Cancer: How Many and Which Genes to Test? by Francesca Rebuzzi, Paola Ulivi, Gianluca Tedaldi

“…Colorectal cancer is one of the most common tumors, and genetic predisposition is one of the key risk factors in the development of this malignancy. Lynch syndrome and familial adenomatous polyposis are the best-known genetic diseases associated with hereditary colorectal cancer. …”
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Immunotherapy for Colorectal Cancer with High Microsatellite Instability: The Ongoing Search for Biomarkers by Javier Ros, Iosune Baraibar, Nadia Saoudi, Marta Rodriguez, Francesc Salvà, Josep Tabernero, Elena Élez

“…While various biomarkers of response have been evaluated in the context of MSI CRC, including <i>B2M</i> and <i>JAK1</i>/2 mutations, TMB, <i>WNT</i> pathway mutations, and Lynch syndrome, with mixed results, liver metastases have been associated with a lack of activity in such strategies. …”
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Personalized Systemic Therapies in Hereditary Cancer Syndromes by Luciana Mastrodomenico, Claudia Piombino, Beatrice Riccò, Elena Barbieri, Marta Venturelli, Federico Piacentini, Massimo Dominici, Laura Cortesi, Angela Toss

“…PARP inhibitors for the treatment of BRCA and PALB2-associated tumors, immune checkpoint inhibitors for tumors associated with the Lynch Syndrome, HIF-2α inhibitor in the VHL-related cancers and, finally, selective RET inhibitors for the treatment of MEN2-associated medullary thyroid cancer are the most successful examples of how a germline PVs can be exploited to develop effective personalized therapies and improve the outcome of these patients. …”
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Current prospects of hereditary adrenal tumors: towards better clinical management by Akihiro Ohmoto, Naomi Hayashi, Shunji Takahashi, Arisa Ueki

“…Recent studies have expanded this spectrum to include other types of hereditary tumors, such as Lynch syndrome or familial adenomatous polyposis. Individuals harboring germline TP53 pathogenic variants that cause LFS have heterogeneous phenotypes depending on the respective variant type. …”
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Comparative molecular genomic analyses of a spontaneous rhesus macaque model of mismatch repair-deficient colorectal cancer. by Nejla Ozirmak Lermi, Stanton B Gray, Charles M Bowen, Laura Reyes-Uribe, Beth K Dray, Nan Deng, R Alan Harris, Muthuswamy Raveendran, Fernando Benavides, Carolyn L Hodo, Melissa W Taggart, Karen Colbert Maresso, Krishna M Sinha, Jeffrey Rogers, Eduardo Vilar

“…Colorectal cancer (CRC) remains the third most common cancer in the US with 15% of cases displaying Microsatellite Instability (MSI) secondary to Lynch Syndrome (LS) or somatic hypermethylation of the MLH1 promoter. …”
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Patient and Family Preferences on Health System-Led Direct Contact for Cascade Screening by Nora B. Henrikson, Paula Blasi, Marlaine Figueroa Gray, Brooks T. Tiffany, Aaron Scrol, James D. Ralston, Stephanie M. Fullerton, Catherine Y. Lim, John Ewing, Kathleen A. Leppig

“…We conducted two rounds of data collection using focus groups followed by individual interviews with patients with HBOC or Lynch syndrome and a separate sample of people with a family history of hereditary cancers. …”
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Artificial Intelligence for Histology-Based Detection of Microsatellite Instability and Prediction of Response to Immunotherapy in Colorectal Cancer by Lindsey A. Hildebrand, Colin J. Pierce, Michael Dennis, Munizay Paracha, Asaf Maoz

“…Testing all CRC patients for MSI/dMMR is recommended as screening for Lynch Syndrome and, more recently, to determine eligibility for immune checkpoint inhibitors in advanced disease. …”
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Gynecological Cancers Caused by Deficient Mismatch Repair and Microsatellite Instability by Madhura Deshpande, Phillip A. Romanski, Zev Rosenwaks, Jeannine Gerhardt

“…These germline mutations, known as Lynch syndrome, are associated with an increased risk of both endometrial and ovarian cancer, in addition to colorectal, gastric, urinary tract, and brain malignancies. …”
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The use of Instagram by gynecologic oncology providers as a patient education tool for patients at high-risk of gynecologic cancer by Sharonne Holtzman, Caitlin Carr, Kristen Zeligs, Stephanie V. Blank

“…The search of the seven most common gynecologic oncology genetic terms yielded 126,750 posts with the majority under BRCA1(n = 56,900) and BRCA2 (n = 45,000) followed by Lynch syndrome (n = 14,700) and hereditary breast and ovarian cancer (n = 8,900). …”
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Molecular Analysis of Upper Tract and Bladder Urothelial Carcinoma: Results from a Microarray Comparison. by Thomas Sanford, Sima Porten, Maxwell V Meng

“…However, upper tract urothelial carcinoma tends to be higher grade than bladder urothelial carcinoma and tends to form in patients with certain familial conditions (e.g. Lynch Syndrome), indicating there may be unique biologic processes in these tumors. …”
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Microsatellite Instability in Ovarian Invasive and Borderline Epithelial Tumors and Comparison with Prognostic Parameters by Filiz İlhan Türkel, Aylin Ege Gül, Sibel Sensu, Sevinç Hallaç Keser, Nagehan Özdemir Barışık

“…Defects on DNA mismatch repair (MMR) genes are responsible for hereditary ovarian tumors related with Lynch syndrome. In this study, we aimed to determine microsatellite instability status in invasive and borderline epithelial ovarian tumors diagnosed via immunohistochemistry in our clinic and compare the results with several prognostic parameters and survival.Methods:In this retrospective study, 159 epithelial ovarian tumors were evaluated for age, tumor type, histological grade and Federation of Gynecology and Obstetrics (FIGO) stage as well as survival. …”
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Estrogen Receptor (ER) and Progesterone Receptor (PgR) Expression in Endometrial Cancer—An Immunohistochemical Assessment by Stanisław Przewoźny, Jan Rogaliński, Mateusz de Mezer, Anna Markowska, Janina Markowska, Jakub Żurawski

“…Many risk factors lead to the pathogenesis of this disease, such as lifestyle choices, BMI, the medicines used in breast cancer therapy, and Lynch syndrome. EC cells show the expression of estrogen receptors (ERs) and progesterone receptors (PgR). …”
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Microsatellite Instability in Colorectal Cancer Liquid Biopsy—Current Updates on Its Potential in Non-Invasive Detection, Prognosis and as a Predictive Marker by Francis Yew Fu Tieng, Nadiah Abu, Learn-Han Lee, Nurul-Syakima Ab Mutalib

“…Microsatellite instability (MSI) is an indicator for Lynch syndrome (LS), an inherited cancer predisposition, and a prognostic marker which predicts the response to immunotherapy. …”
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Colorectal cancer stratification in the routine clinical pathway: A district general hospital experience by Wedden, S, Miller, K, Frayling, I, Thomas, T, Chefani, A, Miller, K, Hamblin, A, Taylor, J, D'Arrigo, C

“…We have shown that MMR IHC combined with BRAFV600E IHC is practical and easy to perform in a small district general hospital, has full concordance with DNA-based tests and satisfies the latest NICE requirements for the identification of potential Lynch syndrome patients. We provide a framework for the interpretation and presentation of test results. …”

Guidelines for the management of hereditary colorectal cancer from the British Society of Gastroenterology (BSG)/Association of Coloproctology of Great Britain and Ireland (ACPGBI)... by Monahan, KJ, Bradshaw, N, Dolwani, S, Desouza, B, Dunlop, MG, East, JE, Ilyas, M, Kaur, A, Lalloo, F, Latchford, A, Rutter, MD, Tomlinson, I, Thomas, HJW, Hill, J, Hereditary CRC Guidelines Edelphi Consensus Group

“…This guideline is an update from the 2010 British Society of Gastroenterology/Association of Coloproctology of Great Britain and Ireland (BSG/ACPGBI) guidelines for colorectal screening and surveillance in moderate and high-risk groups; however, this guideline is concerned specifically with people who have increased lifetime risk of CRC due to hereditary factors, including those with Lynch syndrome, polyposis or a family history of CRC. …”

The Breast Cancer Screening and Timing of Breast MRI—Experience in a Genetic High-Risk Screening Clinic in a Comprehensive Cancer Center by Xia Wang, Maxine D. Chang, Marie Catherine Lee, Bethany L. Niell

“…Breast screening findings for women with Lynch syndrome and neurofibromatosis type 1 were also included in this report.…”
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Prevalence estimation of microsatellite instability in colorectal cancers using tissue microarray based methods – A tertiary care center experience by Sonali Susmita Nayak, Paromita Roy, Neeraj Arora, Indu Arun, Manas Kumar Roy, Sudeep Banerjee, Indranil Mallick, Mohandas K Mallath

“…Aim: Microsatellite instability (MSI) pathway is known to be implicated in carcinogenesis of 15% colorectal carcinomas (CRC), including 2%–3% of cases of Lynch syndrome, as per western literature. MSI status has important prognostic and therapeutic implications. …”
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