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Lynch syndrome

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https://www.readbyqxmd.com/read/28334914/clinical-utility-of-a-self-administered-questionnaire-for-assessment-of-hereditary-gynecologic-cancer
#1
Kenta Masuda, Akira Hirasawa, Haruko Irie-Kunitomi, Tomoko Akahane, Arisa Ueki, Yusuke Kobayashi, Wataru Yamagami, Hiroyuki Nomura, Fumio Kataoka, Eiichiro Tominaga, Kouji Banno, Nobuyuki Susumu, Daisuke Aoki
Background: A patient's medical history and familial cancer history are important information for assessing the risk of hereditary cancer. We have generated a self-administered questionnaire for patients with gynecologic cancer. This pilot study analyzed the usefulness of this questionnaire and the rates of patients that meet the Society of Gynecologic Oncology criteria in ovarian cancer and endometrial cancer patients. Method: Ovarian or endometrial cancer patients were recruited for this study...
December 23, 2017: Japanese Journal of Clinical Oncology
https://www.readbyqxmd.com/read/28334867/the-silent-mutation-mlh1-c-543c-t-resulting-in-aberrant-splicing-can-cause-lynch-syndrome-a-case-report
#2
Tatsuro Yamaguchi, Tomokazu Wakatsuki, Mari Kikuchi, Shin-Ichiro Horiguchi, Kiwamu Akagi
The proband was a 67-year-old man with transverse and sigmoid colon cancer. Microsatellite instability analysis revealed a high frequency of microsatellite instability, and immunohistochemical staining showed the absence of both MLH1 and PMS2 proteins in the sigmoid colon cancer tissue specimens from the patient. DNA sequencing revealed a nucleotide substitution c.543C>T in MLH1, but this variant did not substitute an amino acid. The MLH1 c.543C>T variant was located 3 bases upstream from the end of exon 6 and created a new splice donor site 4 bases upstream from the end of exon 6...
March 1, 2017: Japanese Journal of Clinical Oncology
https://www.readbyqxmd.com/read/28333842/review-article-sexuality-and-risk-reducing-salpingo-oophorectomy
#3
Paige E Tucker, Paul A Cohen
INTRODUCTION: Women with familial cancer syndromes such as hereditary breast and ovarian cancer syndrome (BRCA1 and BRCA2) and Lynch syndrome are at a significantly increased risk of developing ovarian cancer and are advised to undergo prophylactic removal of their ovaries and fallopian tubes at age 35 to 40 years, after childbearing is complete. METHODS: A comprehensive literature search of studies on risk-reducing salpingo-oophorectomy (RRSO), sexuality, and associated issues was conducted in MEDLINE databases...
March 23, 2017: International Journal of Gynecological Cancer
https://www.readbyqxmd.com/read/28327367/biallelic-mismatch-repair-deficiency-syndrome-management-and-prevention-of-a-devastating-manifestation-of-lynch-syndrome
#4
EDITORIAL
Huma Q Rana, Sapna Syngal
No abstract text is available yet for this article.
March 18, 2017: Gastroenterology
https://www.readbyqxmd.com/read/28323777/msh6-past-and-present-and-muir-torre-syndrome-connecting-the-dots
#5
Meera Mahalingam
Sebaceous neoplasms such as adenoma, sebaceoma, and carcinoma, although sporadic in their occurrence, are clinically significant because of their association with Muir-Torre syndrome (MTS). MTS is a rare autosomal dominant genodermatosis characterized by the occurrence of sebaceous neoplasms and/or keratoacanthomas and visceral malignancies. MTS is usually the result of germline mutations in the DNA mismatch repair genes MSH2 and, albeit less commonly, MLH1. Although less know, MSH6 is yet another key player...
April 2017: American Journal of Dermatopathology
https://www.readbyqxmd.com/read/28319570/microcystic-elongated-and-fragmented-pattern-invasion-in-ovarian-endometrioid-carcinoma-immunohistochemical-profile-and-prognostic-implications
#6
Allison Goldberg, Lauren Hand, Dan DeCotiis, Norman Rosenblum, Joanna Chan
Microcystic, elongated, and fragmented (MELF) pattern invasion is a poor prognostic indicator in uterine endometrioid carcinoma, but its existence, biology, and prognostic value have not been described in ovarian endometrioid carcinoma. We evaluated cases of ovarian endometrioid carcinoma without synchronous uterine endometrioid carcinoma for MELF and other histologic features. To evaluate tumor biology, we assessed an immunohistochemical profile, including MLH1, PMS2, MSH2, MSH6, β-catenin, e-cadherin, CK19, and cyclin D1...
March 17, 2017: International Journal of Gynecological Pathology
https://www.readbyqxmd.com/read/28315974/inherited-dna-repair-gene-mutations-detected-by-tumor-next-generation-sequencing-in-urinary-tract-cancers
#7
Sumati Gupta, Samantha Greenberg, Jade Grimmett, David Gaston, Neeraj Agarwal, William Lowrance, Joshua Schiffman, Wendy Kohlmann
Interpretation of next-generation sequencing (NGS) of tumor tissue in patients with advanced Urinary Tract Cancer (UTC) is performed to guide treatment selection but may reveal pathogenic variants with germline implications. We identified three patients with UTC with unexpected germline DNA repair gene mutations. Specific testing for these was prompted by the detection of these mutations by tumor NGS. All three patients were nonsmokers with a strong family history of cancer. Two patients had upper tract UTC with age at diagnosis in the 40 s...
March 18, 2017: Familial Cancer
https://www.readbyqxmd.com/read/28306219/characterization-of-a-novel-pold1-missense-founder-mutation-in-a-spanish-population
#8
Rosario Ferrer-Avargues, Virginia Díez-Obrero, Ester Martín-Tomás, Eva Hernández-Illán, María-Isabel Castillejo, Alan Codoñer-Alejos, Víctor-Manuel Barberá, Ana-Beatriz Sánchez-Heras, Ángel Segura, María-José Juan, Isabel Tena, Adela Castillejo, José-Luis Soto
BACKGROUND: We identified a new and a recurrent POLD1 mutation associated with predisposition to colorectal cancer (CRC). We characterized the molecular and clinical nature of the potential POLD1 founder mutation in families from Valencia (Spain). METHODS: Clinical and molecular data were collected from 4 independent families known to have a POLD1 Leu474Pro mutation. To establish its founder effect, haplotype construction was performed using 14 flanking POLD1 polymorphic markers...
March 17, 2017: Journal of Gene Medicine
https://www.readbyqxmd.com/read/28283864/lower-gastrointestinal-neuroendocrine-neoplasms-associated-with-hereditary-cancer-syndromes-a-case-series
#9
Trilokesh D Kidambi, Christina Pedley, Amie Blanco, Emily K Bergsland, Jonathan P Terdiman
Lower gastrointestinal (GI) neuroendocrine neoplasms (NENs) of the colon and rectum are uncommon and not traditionally associated with hereditary GI cancer syndromes. However, with widespread implementation of colorectal cancer screening programs, lower GI NENs are being identified with increasing frequency. We report the first case series of six patients with lower GI NENs who were diagnosed with hereditary GI cancer syndromes by germline testing. Two patients presented with poorly differentiated rectal neuroendocrine carcinoma (NECs) with colonic polyposis and were found to have Familial Adenomatous Polyposis and MYH-Associated Polyposis, respectively...
March 10, 2017: Familial Cancer
https://www.readbyqxmd.com/read/28279398/-perineal-reconstruction-salvage-surgery-with-2flaps-technique
#10
Marta Jiménez Gómez, Antonio Navarro-Sánchez, Jaime Lima Sánchez, Juan Ramón Hernández Hernández
BACKGROUND: The principles of perineal reconstructive surgery comprise adequate filling of the defect along with stable and durable skin coverage, with a low morbidity rate. Two-flap perineal reconstruction is a simple, fast and reliable technique that uses a single donor site. This improves scar position with low morbidity. It is based in the use of 2flaps; one flap fills the defect with a «turn over» technique and the other is a rotation - advancement flap for skin coverage. CLINICAL CASE: A 52-year-old male diagnosed with Lynch syndrome who underwent laparoscopic abdominoperineal amputation for adenocarcinoma of the lower rectum and developed recurrence 2years later over the perineal scar that required radical resection and perineal reconstruction...
March 6, 2017: Cirugia y Cirujanos
https://www.readbyqxmd.com/read/28264871/immune-microenvironment-in-microsatellite-instable-endometrial-cancers-hereditary-or-sporadic-origin-matters
#11
Janelle B Pakish, Qian Zhang, Zhongyuan Chen, Han Liang, Gary Chisholm, Ying Yuan, Samuel C Mok, Russell J Broaddus, Karen Lu, Melinda S Yates
PURPOSE: Recent studies show that colorectal tumors with high microsatellite instability (MSI-H) have increased immunogenicity and response to immunotherapy compared to microsatellite stable (MSS) tumors. It is not yet clear if MSI-H endometrial cancer (EC) may also benefit from these therapies. It is also unknown whether immune response is equivalent in MSI-H EC with sporadic or inherited Lynch syndrome origins. EXPERIMENTAL DESIGN: Multiplexed fluorescent immunohistochemistry (IHC) was used to compare matched MSI-H (n=60) and MSS (n=96) EC specimens by evaluating immune cell populations in tumor and stroma compartments...
March 6, 2017: Clinical Cancer Research: An Official Journal of the American Association for Cancer Research
https://www.readbyqxmd.com/read/28264000/evaluation-of-rint1-as-a-modifier-of-intestinal-tumorigenesis-and-cancer-risk
#12
Karla L Otterpohl, Karen A Gould
The Rad50 Interacting Protein 1 (Rint1) influences cellular homeostasis through maintenance of endoplasmic reticulum, Golgi and centrosome integrity and regulation of vesicle transport, autophagy and the G2/M checkpoint. Rint1 has been postulated to function as a tumor suppressor as well as an oncogene, with its role depending perhaps upon the precise cellular and/or experimental context. In humans, heterozygosity for germline missense variants in RINT1 have, in some studies, been associated with increased risk of both breast and Lynch syndrome type cancers...
2017: PloS One
https://www.readbyqxmd.com/read/28260941/is-there-evidence-that-we-should-screen-the-general-population-for-lynch-syndrome-with-genetic-testing-a-systematic-review
#13
REVIEW
Anya E R Prince, R Jean Cadigan, Gail E Henderson, James P Evans, Michael Adams, Emmanuel Coker-Schwimmer, Dolly C Penn, Marcia Van Riper, Giselle Corbie-Smith, Daniel E Jonas
BACKGROUND: The emerging dual imperatives of personalized medicine and technologic advances make population screening for preventable conditions resulting from genetic alterations a realistic possibility. Lynch syndrome is a potential screening target due to its prevalence, penetrance, and the availability of well-established, preventive interventions. However, while population screening may lower incidence of preventable conditions, implementation without evidence may lead to unintentional harms...
2017: Pharmacogenomics and Personalized Medicine
https://www.readbyqxmd.com/read/28259170/molecular-genetics-of-microsatellite-unstable-colorectal-cancer-for-pathologists
#14
REVIEW
Wei Chen, Benjamin J Swanson, Wendy L Frankel
BACKGROUND: Microsatellite-unstable colorectal cancers (CRC) that are due to deficient DNA mismatch repair (dMMR) represent approximately 15% of all CRCs in the United States. These microsatellite-unstable CRCs represent a heterogenous group of diseases with distinct oncogenesis pathways. There are overlapping clinicopathologic features between some of these groups, but many important differences are present. Therefore, determination of the etiology for the dMMR is vital for proper patient management and follow-up...
March 4, 2017: Diagnostic Pathology
https://www.readbyqxmd.com/read/28258479/prevalence-and-clinicopathologic-molecular-characteristics-of-mismatch-repair-deficient-colorectal-cancer-in-the-under-50-year-old-japanese-population
#15
Okihide Suzuki, Hidetaka Eguchi, Noriyasu Chika, Takehiko Sakimoto, Keiichiro Ishibashi, Kensuke Kumamoto, Jun-Ichi Tamaru, Tetsuhiko Tachikawa, Kiwamu Akagi, Tomio Arai, Yasushi Okazaki, Hideyuki Ishida
PURPOSE: To clarify the prevalence and clinicopathologic/molecular characteristics of mismatch repair (MMR)-deficient colorectal cancer in the young Japanese population. METHODS: Immunohistochemical analyses for MMR proteins (MLH1, MSH2, MSH6, and PMS2) were performed in formalin-fixed paraffin-embedded sections prepared from the resected CRC specimens of 119 consecutive patients aged <50 years old, who underwent resection of the primary tumor at our institution between 1996 and 2015...
March 3, 2017: Surgery Today
https://www.readbyqxmd.com/read/28256262/-muir-torre-syndrome-and-turcot-syndrome
#16
C Velter, P Caussade, J-P Fricker, B Cribier
INTRODUCTION: Lynch syndrome (LS) is a syndrome that carries a genetic predisposition to certain cancers associating, either in a single individual or in a family, a visceral tumour, mainly colorectal, with a high risk of other synchronous or metachronous cancers. LS is linked with mutations in the genes coding for proteins in the DNA repair system. Phenotypic variants of SL exist, including Muir-Torre syndrome (MTS) and Turcot syndrome (TS), both of which predispose to colorectal cancer...
February 27, 2017: Annales de Dermatologie et de Vénéréologie
https://www.readbyqxmd.com/read/28254144/hereditary-ovarian-cancer-and-risk-reduction
#17
REVIEW
Lesley Andrews, David G Mutch
Mutations in BRCA1 and BRCA2 account for hereditary breast and ovarian cancer syndrome in a majority of families and 14% of epithelial ovarian cancer cases. Despite next-generation sequencing, other identified genes (Lynch Syndrome, RAD51C, RAD51D, and BRIP1) account for only a small proportion of cases. The risk of ovarian cancer by age 70 is approximately 40% for BRCA1 and 18% for BRCA2. Most of these cancers are high-grade serous cancers that predominantly arise in the fimbriae of the fallopian tube. Ovarian screening does not improve outcomes, so women at high risk are recommended to undergo risk-reducing salpingo-oophorectomy around the age of 40, followed by hormone replacement therapy (HRT)...
January 17, 2017: Best Practice & Research. Clinical Obstetrics & Gynaecology
https://www.readbyqxmd.com/read/28251905/transplantation-of-fecal-microbiota-from-patients-with-irritable-bowel-syndrome-alters-gut-function-and-behavior-in-recipient-mice
#18
Giada De Palma, Michael D J Lynch, Jun Lu, Vi T Dang, Yikang Deng, Jennifer Jury, Genevieve Umeh, Pedro M Miranda, Marc Pigrau Pastor, Sacha Sidani, Maria Ines Pinto-Sanchez, Vivek Philip, Peter G McLean, Moreno-Gabriel Hagelsieb, Michael G Surette, Gabriela E Bergonzelli, Elena F Verdu, Philip Britz-McKibbin, Josh D Neufeld, Stephen M Collins, Premysl Bercik
Irritable bowel syndrome (IBS) is a common disorder characterized by altered gut function and often is accompanied by comorbid anxiety. Although changes in the gut microbiota have been documented, their relevance to the clinical expression of IBS is unknown. To evaluate a functional role for commensal gut bacteria in IBS, we colonized germ-free mice with the fecal microbiota from healthy control individuals or IBS patients with diarrhea (IBS-D), with or without anxiety, and monitored gut function and behavior in the transplanted mice...
March 1, 2017: Science Translational Medicine
https://www.readbyqxmd.com/read/28250766/novel-implications-in-molecular-diagnosis-of-lynch-syndrome
#19
REVIEW
Raffaella Liccardo, Marina De Rosa, Paola Izzo, Francesca Duraturo
About 10% of total colorectal cancers are associated with known Mendelian inheritance, as Familial Adenomatous Polyposis (FAP) and Lynch syndrome (LS). In these cancer types the clinical manifestations of disease are due to mutations in high-risk alleles, with a penetrance at least of 70%. The LS is associated with germline mutations in the DNA mismatch repair (MMR) genes. However, the mutation detection analysis of these genes does not always provide informative results for genetic counseling of LS patients...
2017: Gastroenterology Research and Practice
https://www.readbyqxmd.com/read/28248820/germline-mutations-in-mlh1-leading-to-isolated-loss-of-pms2-expression-in-lynch-syndrome-implications-for-diagnostics-in-the-clinic
#20
Felipe C C Silva, Giovana Tardin Torrezan, Jose R O Ferreira, Ligia P Oliveira, Maria D F S Begnami, Samuel Aguiar, Dirce M Carraro
No abstract text is available yet for this article.
February 28, 2017: American Journal of Surgical Pathology
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