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Lynch Like Syndrome

Natalie J Carter, Megan L Marshall, Lisa R Susswein, Kristin K Zorn, Susan Hiraki, Kevin J Arvai, Rebecca I Torene, Anna K McGill, Lauren Yackowski, Patricia D Murphy, Zhixiong Xu, Benjamin D Solomon, Rachel T Klein, Kathleen S Hruska
OBJECTIVE: The recognition of genes implicated in ovarian cancer risk beyond BRCA1, BRCA2, and the Lynch syndrome genes has increased the variety of testing options available to providers and patients. We report the frequency of pathogenic variants identified among individuals with ovarian cancer undergoing clinical genetic testing via a multi-gene hereditary cancer panel. METHODS: Genetic testing of up to 32 genes using a hereditary cancer panel was performed on 4439 ovarian cancer cases, and results were analyzed for frequency of pathogenic variants...
October 12, 2018: Gynecologic Oncology
Tanja E Argillander, Jan J Koornstra, Mariette van Kouwen, Alexandra Mj Langers, Fokko M Nagengast, Juda Vecht, Wouter H de Vos Tot Nederveen Cappel, Evelien Dekker, Peter van Duijvendijk, Hans Fa Vasen
Background and objective: Despite intensive colonoscopic surveillance, a substantial proportion of Lynch syndrome (LS) patients develop colorectal cancer (CRC). The aim of this study was to characterize incident CRC in LS patients. Methods: All patients diagnosed with incident CRC after start of colonoscopic surveillance were identified in the Dutch LS Registry of 905 patients. A retrospective analysis of patient records was carried out for patient characteristics, survival, CRC characteristics and findings of previous colonoscopy...
October 2018: United European Gastroenterology Journal
Kazuhito Sato, Masahito Kawazu, Yoko Yamamoto, Toshihide Ueno, Shinya Kojima, Genta Nagae, Hiroyuki Abe, Manabu Soda, Takafumi Oga, Shinji Kohsaka, Eirin Sai, Yoshihiro Yamashita, Hisae Iinuma, Masashi Fukayama, Hiroyuki Aburatani, Toshiaki Watanabe, Hiroyuki Mano
PURPOSE: Colorectal cancers (CRCs) with microsatellite instability-high (MSI-H) status, due to mismatch repair deficiency, are associated with poor patient outcomes after relapse. We aimed to identify novel therapeutic targets for them. EXPERIMENTAL DESIGN: We performed MSI analyses of over 2,800 surgically resected colorectal tumors obtained from consecutive patients treated in Japan from 1998 through June 2016. Whole-exome sequencing, transcriptome sequencing, and methylation analyses were performed on 149 of 162 tumors showing MSI in BAT25 and BAT26 loci...
October 2, 2018: Clinical Cancer Research: An Official Journal of the American Association for Cancer Research
John C Mathers
The purpose of this review article is to examine the evidence of the mechanisms linking obesity with bowel cancer risk and to comment on the development of interventions that may lower risk of this common age-related disease. The choice of topics for inclusion reflects my personal research on the etiology and prevention of bowel cancer over the past 3 decades. I have cited literature which addresses each of these topics, but because of the breadth of the review article, I have not attempted to do this systematically...
September 1, 2018: Nutrition Research
Lorena Martin-Morales, Paula Rofes, Eduardo Diaz-Rubio, Patricia Llovet, Victor Lorca, Inmaculada Bando, Pedro Perez-Segura, Miguel de la Hoya, Pilar Garre, Vanesa Garcia-Barberan, Trinidad Caldes
Half of the high-risk colorectal cancer families that fulfill the clinical criteria for Lynch syndrome lack germline mutations in the mismatch repair (MMR) genes and remain unexplained. Genetic testing for hereditary cancers is rapidly evolving due to the introduction of multigene panels, which may identify more mutations than the old screening methods. The aim of this study is the use of a Next Generation Sequencing panel in order to find the genes involved in the cancer predisposition of these families. For this study, 98 patients from these unexplained families were tested with a multigene panel targeting 94 genes involved in cancer predisposition...
2018: PloS One
Jennifer A Bennett, Anna Pesci, Vicente Morales-Oyarvide, Annacarolina Da Silva, Valentina Nardi, Esther Oliva
Patients with Lynch syndrome have up to a 24% risk of developing ovarian carcinoma, but universal mismatch repair (MMR) protein testing of ovarian carcinomas is not standard practice in most institutions. We reviewed 104 unselected ovarian endometrioid carcinomas (OEC) for various clinicopathologic features to determine if any are predictive of MMR loss. Immunohistochemistry for all 4 MMR proteins was performed followed by MLH1 promoter methylation analysis when indicated. Overall, patients had a mean age of 55 years and tumors averaged 12 cm...
September 25, 2018: American Journal of Surgical Pathology
Taha Reşid Özdemir, Murat Alan, Muzaffer Sancı, Altuğ Koç
BACKGROUND: Lynch syndrome (LS), which is an inherited cancer disorder, has an increased lifetime risk for various cancers. Endometrial cancer (EC) is the most common extra-colonic cancer in LS. Guidelines recommend that patients with EC diagnosed under 50 years of age should be evaluated for LS. Molecular analysis of mismatch repair (MMR) genes and EPCAM gene is required for a definitive diagnosis of LS. AIMS: The purpose of this study was to report the mutation analysis of MMR genes using targeted next generation sequencing (NGS) in patients having EC diagnosed <50 years of age as the first study from Turkey, to our knowledge...
September 21, 2018: Balkan Medical Journal
L Adán-Merino, M Aldeguer-Martínez, E Alonso-Gamarra, F Valentín-Gómez, C Zaera-De la Fuente, S Martín-Chávarri
INTRODUCTION AND AIMS: Lynch-like syndrome is diagnosed when there is an expression deficit in DNA mismatch repair proteins but a normal genetic study. The behavior and management of that pathology are currently a subject of debate. We present herein the characteristics of patients with Lynch-like syndrome, together with a surveillance proposal. MATERIALS AND METHODS: Immunohistochemistry was carried out on families suspected of presenting with Lynch syndrome. Germline analysis was done if there was loss of mismatch repair protein expression and no BRAF mutation...
September 17, 2018: Revista de Gastroenterología de México
Alejandro Moles-Fernández, Laura Duran-Lozano, Gemma Montalban, Sandra Bonache, Irene López-Perolio, Mireia Menéndez, Marta Santamariña, Raquel Behar, Ana Blanco, Estela Carrasco, Adrià López-Fernández, Neda Stjepanovic, Judith Balmaña, Gabriel Capellá, Marta Pineda, Ana Vega, Conxi Lázaro, Miguel de la Hoya, Orland Diez, Sara Gutiérrez-Enríquez
In silico tools for splicing defect prediction have a key role to assess the impact of variants of uncertain significance. Our aim was to evaluate the performance of a set of commonly used splicing in silico tools comparing the predictions against RNA in vitro results. This was done for natural splice sites of clinically relevant genes in hereditary breast/ovarian cancer (HBOC) and Lynch syndrome. A study divided into two stages was used to evaluate SSF-like, MaxEntScan, NNSplice, HSF, SPANR, and dbscSNV tools...
2018: Frontiers in Genetics
A Papandreou, S Rahman, C Fratter, J Ng, E Meyer, L J Carr, M Champion, A Clarke, P Gissen, C Hemingway, N Hussain, S Jayawant, M D King, B J Lynch, L Mewasingh, J Patel, P Prabhakar, V Neergheen, S Pope, S J R Heales, J Poulton, Manju A Kurian
OBJECTIVES: To describe the spectrum of movement disorders and cerebrospinal fluid (CSF) neurotransmitter profiles in paediatric patients with POLG disease. METHODS: We identified children with genetically confirmed POLG disease, in whom CSF neurotransmitter analysis had been undertaken. Clinical data were collected retrospectively. CSF neurotransmitter levels were compared to both standardised age-related reference ranges and to non-POLG patients presenting with status epilepticus...
August 30, 2018: Journal of Inherited Metabolic Disease
Ladan Goshayeshi, Kamran Ghaffarzadegan, Alireza Khooei, Abbas Esmaeilzadeh, Mahla Rahmani Khorram, Hooman Mosannen Mozaffari, Behzad Kiani, Benyamin Hoseini
OBJECTIVES: Lynch syndrome (LS), a genetically inherited autosomal disorder, increases the incidence of colorectal carcinoma (CRC). We aimed to perform a universal strategy to assess the prevalence and clinicopathological characteristics of early onset CRCs at high risk of LS versus late-onset ones in the Iranian population. SETTING: A local population-based study from Northeastern Iran. PARTICIPANTS: 321 consecutive CRCs and pathology specimen screened between 2013 and 2016...
August 30, 2018: BMJ Open
Jennifer Y Ju, Anne M Mills, Mani S Mahadevan, Jinbo Fan, Stephen H Culp, Martha H Thomas, Helen P Cathro
Lynch syndrome (LS) is defined by germline mutations in DNA mismatch repair (MMR) genes, and affected patients are at high risk for multiple cancers. Reflexive testing for MMR protein loss by immunohistochemistry (IHC) is currently only recommended for colorectal and endometrial cancers, although upper tract urothelial carcinoma (UTUC) is the third-most common malignancy in patients with LS. To study the suitability of universal MMR IHC screening for UTUC, we investigated MMR expression and microsatellite status in UTUC in comparison to bladder UC (BUC), and evaluated the clinicopathologic features of UTUC...
November 2018: American Journal of Surgical Pathology
Sushrut S Thiruvengadam, Judith Chuang, Robert Huang, Mohit Girotra, Walter G Park
BACKGROUND AND AIMS: Pancreatic intraepithelial neoplasia is associated with chronic pancreatitis (CP) changes on EUS. The objective of this study was to determine whether CP changes were more common in high-risk individuals (HRIs) than in control subjects and whether these changes differed among higher-risk subsets of HRIs. METHODS: HRIs and control subjects were identified from an endoscopy database. HRIs were defined as having predisposing mutations or a family history (FH) of pancreatic ductal adenocarcinoma...
August 24, 2018: Gastrointestinal Endoscopy
Charles Muller, Sang Mee Lee, William Barge, Shazia M Siddique, Shivali Berera, Gina Wideroff, Rashmi Tondon, Jeremy Chang, Meaghan Peterson, Jessica Stoll, Bryson W Katona, Daniel A Sussman, Joshua Melson, Sonia S Kupfer
BACKGROUND & AIMS: Guidelines recommend that all colorectal tumors be assessed for mismatch repair deficiency, which could increase identification of patients with Lynch syndrome. This is of particular importance for minority populations, in whom hereditary syndromes are under diagnosed. We compared rates and outcomes of testing all tumor samples (universal testing) collected from a racially and ethnically diverse population for features of Lynch syndrome. METHODS: We performed a retrospective analysis of colorectal tumors tested from 2012 through 2016 at 4 academic centers...
August 18, 2018: Clinical Gastroenterology and Hepatology
Elisabeth Joye Petr, Tobias Else
Adrenocortical carcinoma (ACC), particularly when occurring during childhood, has been a traditional component of the tumor spectrum of Li-Fraumeni syndrome. Recent research has defined a significant risk increase of ACC with other familial cancer syndromes, such as Lynch syndrome and multiple endocrine neoplasia. ACC patients can serve as index patients for a new family diagnosis of a hereditary syndrome, allowing for further family cascade genetic testing, impacting the care and surveillance for patients and at risk family members...
July 2018: La Presse Médicale
Jenna Petersen, Cathryn Koptiuch, Yelena P Wu, Ryan Mooney, Ashley Elrick, Kathryn Szczotka, Megan Keener, Lisa Pappas, Priyanka Kanth, Andrew Soisson, Wendy Kohlmann, Kimberly A Kaphingst
OBJECTIVES: To explore patterns of communication among families with a Lynch syndrome diagnosis and understand what resources could facilitate family communication. METHODS: 127 probands (i.e., first person in family with identified mutation) and family members participated in semi-structured interviews about: how they learned about the Lynch syndrome diagnosis, with whom they shared genetic test results, confidence in sharing results with other family members, and helpfulness of educational resources...
November 2018: Patient Education and Counseling
Tami J Bang, John Caleb Richards, Amy L Olson, Steve D Groshong, Erwin W Gelfand, David A Lynch
Common variable immunodeficiency (CVID) is associated with significant chronic lung disease. The purpose of this paper was to describe the clinical, radiologic, and pathologic findings of CVID-associated lung diseases. These include airways' disease, interstitial lung disease, lymphoma, and mucosa-associated lymphoid tissue lymphoma. In addition, a genetic syndrome termed Kabuki syndrome results in CVID-like immune abnormalities. These patients may also present with CVID-associated lung disease. Awareness and precise identification of CVID-associated lung disease may allow for better assessment of prognosis and direction of therapy...
July 31, 2018: Journal of Thoracic Imaging
Michael D Staudt, Alexander John Clark, Allan S Gordon, Mary E Lynch, Pat K Morley-Forster, Howard Nathan, Catherine Smyth, Larry W Stitt, Cory Toth, Mark A Ware, Dwight E Moulin
BACKGROUND: Central neuropathic pain syndromes are a result of central nervous system injury, most commonly related to stroke, traumatic spinal cord injury, or multiple sclerosis. These syndromes are distinctly less common than peripheral neuropathic pain, and less is known regarding the underlying pathophysiology, appropriate pharmacotherapy, and long-term outcomes. The objective of this study was to determine the long-term clinical effectiveness of the management of central neuropathic pain relative to peripheral neuropathic pain at tertiary pain centers...
September 2018: Canadian Journal of Neurological Sciences. le Journal Canadien des Sciences Neurologiques
Matthew B Yurgelun, Anu B Chittenden, Vicente Morales-Oyarvide, Douglas A Rubinson, Richard F Dunne, Margaret M Kozak, Zhi Rong Qian, Marisa W Welch, Lauren K Brais, Annacarolina Da Silva, Justin L Bui, Chen Yuan, Tingting Li, Wanwan Li, Atsuhiro Masuda, Mancang Gu, Andrea J Bullock, Daniel T Chang, Thomas E Clancy, David C Linehan, Jennifer J Findeis-Hosey, Leona A Doyle, Aaron R Thorner, Matthew D Ducar, Bruce M Wollison, Natalia Khalaf, Kimberly Perez, Sapna Syngal, Andrew J Aguirre, William C Hahn, Matthew L Meyerson, Charles S Fuchs, Shuji Ogino, Jason L Hornick, Aram F Hezel, Albert C Koong, Jonathan A Nowak, Brian M Wolpin
PURPOSE: Germline variants in double-strand DNA damage repair (dsDDR) genes (e.g., BRCA1/2) predispose to pancreatic adenocarcinoma (PDAC) and may predict sensitivity to platinum-based chemotherapy and poly(ADP) ribose polymerase (PARP) inhibitors. We sought to determine the prevalence and significance of germline cancer susceptibility gene variants in PDAC with paired somatic and survival analyses. METHODS: Using a customized next-generation sequencing panel, germline/somatic DNA was analyzed from 289 patients with resected PDAC ascertained without preselection for high-risk features (e...
July 2, 2018: Genetics in Medicine: Official Journal of the American College of Medical Genetics
Mara Fornasarig, Raffaella Magris, Valli De Re, Ettore Bidoli, Vincenzo Canzonieri, Stefania Maiero, Alessandra Viel, Renato Cannizzaro
Lynch syndrome (LS) and familial adenomatous polyposis (FAP) are autosomal dominant hereditary diseases caused by germline mutations leading to the development of colorectal cancer. Moreover, these mutations result in the development of a spectrum of different tumors, including gastric cancers (GCs). Since the clinical characteristics of GCs associated with LS and FAP are not well known, we investigated clinical and molecular features of GCs occurring in patients with LS and FAP attending our Institution. The Hereditary Tumor Registry was established in 1994 at the Department of Oncologic Gastroenterology, CRO Aviano National Cancer Institute, Italy...
June 6, 2018: International Journal of Molecular Sciences
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