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Lynch syndrome

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https://www.readbyqxmd.com/read/27920101/prevalence-of-lynch-syndrome-and-lynch-like-syndrome-among-patients-with-colorectal-cancer-in-a-japanese-hospital-based-population
#1
Noriyasu Chika, Hidetaka Eguchi, Kensuke Kumamoto, Okihide Suzuki, Keiichiro Ishibashi, Tetsuhiko Tachikawa, Kiwamu Akagi, Jun-Ichi Tamaru, Yasushi Okazaki, Hideyuki Ishida
OBJECTIVE: We investigated the prevalence of Lynch syndrome and Lynch-like syndrome among Japanese colorectal cancer patients, as there have been no credible data from Japan. METHODS: Immunohistochemical analyses for mismatch repair proteins (MLH1, MSH2, MSH6 and PMS2) were carried out in surgically resected, formalin-fixed paraffin-embedded specimens obtained from 1,234 newly diagnosed colorectal cancer patients between March 2005 and April 2014. The presence/absence of the BRAF V600E mutation and hypermethylation of the MLH1 promoter was analyzed where necessary...
December 4, 2016: Japanese Journal of Clinical Oncology
https://www.readbyqxmd.com/read/27915441/ovarian-metastasis-from-uveal-melanoma-with-mlh1-pms2-protein-loss-in-a-patient-with-germline-mlh1-mutated-lynch-syndrome-consequence-or-coincidence
#2
João Lobo, Carla Pinto, Micaela Freitas, Manuela Pinheiro, Rámon Vizcaino, Esther Oliva, Manuel R Teixeira, Carmen Jerónimo, Carla Bartosch
Currently, uveal melanoma is not considered within the Lynch syndrome tumor spectrum. However, there are studies suggesting a contribution of microsatellite instability in sporadic uveal melanoma tumorigenesis. We report a 45-year-old woman who was referred for genetic counseling due to a family history of Lynch syndrome caused by a MLH1 mutation. She originally underwent enucleation of the right eye secondary to a uveal spindle cell melanoma diagnosed at age 25. The tumor recurred 22 years later presenting as an ovarian metastasis and concurrently a microscopic endometrial endometrioid carcinoma, grade 1/3 was diagnosed...
December 3, 2016: Virchows Archiv: An International Journal of Pathology
https://www.readbyqxmd.com/read/27907203/tp53-polymorphisms-and-colorectal-cancer-risk-in-patients-with-lynch-syndrome-in-taiwan-a-retrospective-cohort-study
#3
Abram Bunya Kamiza, Ling-Ling Hsieh, Reiping Tang, Huei-Tzu Chien, Chih-Hsiung Lai, Li-Ling Chiu, Tsai-Ping Lo, Kuan-Yi Hung, Jeng-Fu You, Wen-Chang Wang, Chao A Hsiung, Chih-Ching Yeh
BACKGROUND AND AIM: TP53 encodes p53, which has a crucial role in modulating genes that regulate defense against cancer development. This study investigated whether TP53 polymorphisms are associated with colorectal cancer (CRC) in patients with Lynch syndrome and whether TP53 interacts with lifestyle factors to modify CRC risk. METHODS: We identified 260 MLH1 and MSH2 germline mutation carriers from the Taiwan Hereditary Nonpolyposis Colorectal Cancer Consortium...
2016: PloS One
https://www.readbyqxmd.com/read/27903930/metachronous-uterine-endometrioid-adenocarcinoma-and-peritoneal-mesothelioma-in-lynch-syndrome-a-case-report
#4
Yuxin Lu, Sara Milchgrub, Gaurav Khatri, Purva Gopal
Lynch syndrome is a hereditary disease with germline mutation in a DNA mismatch repair gene, most often presenting with colorectal and/or endometrial carcinomas; however, the spectrum of Lynch syndrome-associated tumors is expanding. In this article, we report a case of a primary peritoneal epithelioid mesothelioma that developed in a Lynch syndrome patient 10 months after diagnosis of uterine endometrioid adenocarcinoma. To our knowledge, this is the first reported case of a Lynch syndrome patient with metachronous uterine endometrioid adenocarcinoma and primary peritoneal mesothelioma...
November 30, 2016: International Journal of Surgical Pathology
https://www.readbyqxmd.com/read/27899185/genetic-predisposition-in-gynecologic-cancers
#5
REVIEW
Molly S Daniels, Karen H Lu
This review article discusses the diagnosis and management of hereditary ovarian cancer and hereditary uterine cancer. The key recommendations highlighted are: All women with high grade non-mucinous epithelial ovarian cancer should be offered at least BRCA1 and BRCA2 genetic testing. The care of women with BRCA-associated ovarian cancer should be tailored to their mutation status. Risk-reducing bilateral salpingo-oophorectomy is recommended for women with BRCA1/2 mutations. Women with endometrial cancer should be assessed for the possibility of Lynch syndrome...
October 2016: Seminars in Oncology
https://www.readbyqxmd.com/read/27896849/cytoplasmic-msh2-immunoreactivity-in-a-patient-with-lynch-syndrome-with-an-epcam-msh2-fusion
#6
Shigeki Sekine, Reiko Ogawa, Shinya Saito, Mineko Ushiama, Dai Shida, Takeshi Nakajima, Hirokazu Taniguchi, Nobuyoshi Hiraoka, Teruhiko Yoshida, Kokichi Sugano
AIMS: Immunohistochemistry for mismatch repair (MMR) proteins is being increasingly used to examine MMR status in tumours. The aim of the present article was to report the case of a colon cancer patient with Lynch syndrome who showed unusual cytoplasmic MMR protein localization. METHODS AND RESULTS: Histologically, the colon cancer was diagnosed as medullary carcinoma associated with prominent tumour-infiltrating lymphocytes and a Crohn's-like reaction. Immunohistochemistry revealed cytoplasmic and nuclear expression of MSH2 in non-neoplastic cells, and exclusively cytoplasmic expression in tumour cells...
October 19, 2016: Histopathology
https://www.readbyqxmd.com/read/27894169/the-gate-keeping-role-of-surgeons-with-regard-to-endometrial-cancers-in-lynch-syndrome
#7
EDITORIAL
Min Kyu Kim
No abstract text is available yet for this article.
November 23, 2016: Journal of Gynecologic Oncology
https://www.readbyqxmd.com/read/27888866/hereditary-forms-of-colorectal-cancer
#8
Antoni Castells
Colorectal cancer is one of the most frequent neoplasms in western countries; it is the third most common cancer in men after prostate and lung cancer and the second most common in women after breast cancer. Colorectal cancer is usually sporadic but in a small proportion is hereditary. The genetic cause is well established, allowing pre-symptomatic diagnosis in at-risk relatives. The present article reviews the most novel findings presented at the latest meeting of the American Gastroenterological Association on hereditary forms of colorectal cancer, especially Lynch syndrome and MUTYH-associated polyposis, as well as diverse organisational aspects that can favour the correct management of these patients and their relatives...
September 2016: Gastroenterología y Hepatología
https://www.readbyqxmd.com/read/27886675/pathogenic-germline-mcm9-variants-are-rare-in-australian-lynch-like-syndrome-patients
#9
Qing Liu, Luke B Hesson, Andrea C Nunez, Deborah Packham, Nicholas J Hawkins, Robyn L Ward, Mathew A Sloane
Lynch syndrome is a hereditary cancer syndrome caused by the autosomal dominant inheritance of loss-of-function mutations in DNA mismatch repair (MMR) genes. Approximately one quarter of clinically suspected cases have no identifiable germline mutation in any MMR gene, a condition known as Lynch-like syndrome (LLS). MCM9 was recently identified as the DNA helicase in the mammalian MMR complex and loss of helicase activity results in microsatellite instability. We hypothesized that pathogenic variants in MCM9 may account for LLS...
November 2016: Cancer Genetics
https://www.readbyqxmd.com/read/27880748/cdc-grand-rounds-family-history-and-genomics-as-tools-for-cancer-prevention-and-control
#10
Juan L Rodriguez, Cheryll C Thomas, Greta M Massetti, Debra Duquette, Lindsay Avner, John Iskander, Muin J Khoury, Lisa C Richardson
Although many efforts in cancer prevention and control have routinely focused on behavioral risk factors, such as tobacco use, or on the early detection of cancer, such as colorectal cancer screening, advances in genetic testing have created new opportunities for cancer prevention through evaluation of family history and identification of cancer-causing inherited mutations. Through the collection and evaluation of a family cancer history by a trained health care provider, patients and families at increased risk for a hereditary cancer syndrome can be identified, referred for genetic counseling and testing, and make informed decisions about options for cancer risk reduction (1)...
November 25, 2016: MMWR. Morbidity and Mortality Weekly Report
https://www.readbyqxmd.com/read/27873144/truncation-of-the-msh2-c-terminal-60-amino-acids-disrupts-effective-dna-mismatch-repair-and-is-causative-for-lynch-syndrome
#11
Eva Wielders, Elly Delzenne-Goette, Rob Dekker, Martin van der Valk, Hein Te Riele
Missense variants of DNA mismatch repair (MMR) genes pose a problem in clinical genetics as long as they cannot unambiguously be assigned as the cause of Lynch syndrome (LS). To study such variants of uncertain clinical significance, we have developed a functional assay based on direct measurement of MMR activity in mouse embryonic stem cells expressing mutant protein from the endogenous alleles. We have applied this protocol to a specific truncation mutant of MSH2 that removes 60 C-terminal amino acids and has been found in suspected LS families...
November 21, 2016: Familial Cancer
https://www.readbyqxmd.com/read/27870147/management-strategies-in-lynch-syndrome-and-familial-adenomatous-polyposis-a-national-healthcare-survey-in-japan
#12
Tomoki Yamano, Michiko Hamanaka, Akihito Babaya, Kei Kimura, Masayoshi Kobayashi, Miki Fukumoto, Kiyoshi Tsukamoto, Masafumi Noda, Nagahide Matsubara, Naohiro Tomita, Kenichi Sugihara
Lynch syndrome (LS) and familial adenomatous polyposis (FAP) are major sources of hereditary colorectal cancer (CRC) and associated with other malignancies. There is some heterogeneity in management strategies in Japan. We performed a survey of management of hereditary CRC in hospitals that are members of the Japan Society of Colorectal Cancer Research (JSCCR). One hundred and ninety departments responded, of which 127 were from designated cancer care hospitals (DCCHs) according to the Japanese government. There were 25 488 operations for CRC in these departments in 2015...
November 21, 2016: Cancer Science
https://www.readbyqxmd.com/read/27865420/towards-value-based-universal-lynch-syndrome-identification-in-endometrial-cancer-patients
#13
EDITORIAL
Joseph A Dottino, Karen H Lu
No abstract text is available yet for this article.
December 2016: Gynecologic Oncology
https://www.readbyqxmd.com/read/27863258/detection-of-mismatch-repair-deficiency-and-microsatellite-instability-in-colorectal-adenocarcinoma-by-targeted-next-generation-sequencing
#14
Jonathan A Nowak, Matthew B Yurgelun, Jacqueline L Bruce, Vanesa Rojas-Rudilla, Dimity L Hall, Priyanka Shivdasani, Elizabeth P Garcia, Agoston T Agoston, Amitabh Srivastava, Shuji Ogino, Frank C Kuo, Neal I Lindeman, Fei Dong
Mismatch repair protein deficiency (MMR-D) and high microsatellite instability (MSI-H) are features of Lynch syndrome-associated colorectal carcinomas and have implications in clinical management. We evaluate the ability of a targeted next-generation sequencing panel to detect MMR-D and MSI-H based on mutational phenotype. Using a criterion of >40 total mutations per megabase or >5 single-base insertion or deletion mutations in repeats per megabase, sequencing achieves 92% sensitivity and 100% specificity for MMR-D by immunohistochemistry in a training cohort of 149 colorectal carcinomas and 91% sensitivity and 98% specificity for MMR-D in a validation cohort of 94 additional colorectal carcinomas...
November 15, 2016: Journal of Molecular Diagnostics: JMD
https://www.readbyqxmd.com/read/27861200/imaging-of-hereditary-tumors-of-the-female-genital-system
#15
Sarah M Rothan, Christine O Menias, Yehia M ElGuindy, Corey T Jensen, Akram Shaaban, Priya Bhosale, Michelle V Lee, Venkata S Katabathina, Khaled M Elsayes
Cancers of the female genital system, particularly endometrial and ovarian cancers, can be associated with hereditary cancer syndromes such as hereditary breast and ovarian cancer and Lynch syndrome. Cancers that are found in the setting of a hereditary cancer syndrome are often unique in presentation, clinical features, and pathologic profiles when compared with sporadic tumors. This article reviews the hereditary cancer syndromes associated with gynecological malignancies, as well as the imaging findings and staging system of endometrial and ovarian cancers...
November 17, 2016: Journal of Computer Assisted Tomography
https://www.readbyqxmd.com/read/27855387/five-years-of-multidisciplinary-care-in-hereditary-cancer-our-experience-in-a-spanish-university-hospital
#16
I Márquez-Rodas, M Lobo, C Flores-Sanchez, M Sanz, S Luque, S Lizarraga, C González-Asanza, J A Pajares, M I Peligros, O Bueno, C Mata, C Lopez, S López-Tarruella, Y Jerez, A Muñoz-Martin, M Blanco, M Die-Trill, J P Justel, J Solera, M Martin
OBJECTIVE: To analyse the evolution of a multidisciplinary heredofamilial cancer unit (HFCU) in a university hospital. METHODS: This was a retrospective analysis of the activity of our HFCU in its first 5 years of existence. RESULTS: Between July 2010 and July 2015, 1,518 patients from 1,318 families attended our HFCU. Genetic testing was offered to 862 patients. Of those, 833 (96.6%) accepted testing, with available results for 636 (76.4%)...
November 18, 2016: Oncology
https://www.readbyqxmd.com/read/27851738/cascading-muts-and-mutl-sliding-clamps-control-dna-diffusion-to-activate-mismatch-repair
#17
Jiaquan Liu, Jeungphill Hanne, Brooke M Britton, Jared Bennett, Daehyung Kim, Jong-Bong Lee, Richard Fishel
Mismatched nucleotides arise from polymerase misincorporation errors, recombination between heteroallelic parents and chemical or physical DNA damage. Highly conserved MutS (MSH) and MutL (MLH/PMS) homologues initiate mismatch repair and, in higher eukaryotes, act as DNA damage sensors that can trigger apoptosis. Defects in human mismatch repair genes cause Lynch syndrome or hereditary non-polyposis colorectal cancer and 10-40% of related sporadic tumours. However, the collaborative mechanics of MSH and MLH/PMS proteins have not been resolved in any organism...
November 16, 2016: Nature
https://www.readbyqxmd.com/read/27832499/cancer-screening-behaviors-and-risk-perceptions-among-family-members-of-colorectal-cancer-patients-with-unexplained-mismatch-repair-deficiency
#18
Lior H Katz, Shailesh Advani, Allison M Burton-Chase, Bryan Fellman, Katrina M Polivka, Ying Yuan, Patrick M Lynch, Susan K Peterson
Communication gaps in families with unexplained mismatch repair (MMR) deficiency (UMMRD) could negatively impact the screening behaviors of relatives of individual with UMMRD. We evaluated cancer risk perception, screening behaviors, and family communication among relatives of colorectal cancer (CRC) patients with UMMRD. Fifty-one family members of 17 probands with UMMRD completed a questionnaire about cancer risk perception, adherence to Lynch syndrome (LS) screening recommendations, and communication with relatives...
November 10, 2016: Familial Cancer
https://www.readbyqxmd.com/read/27829276/biliary-carcinomas-pathology-and-the-role-of-dna-mismatch-repair-deficiency
#19
Vitor Werneck Krauss Silva, Gokce Askan, Tanisha D Daniel, Maeve Lowery, David S Klimstra, Ghassan K Abou-Alfa, Jinru Shia
The pathology of biliary carcinomas is diverse with different gross and histological features in tumors arising in the different segments of the biliary system. Various epidemiological risk factors, varied genetic makeup, and tissue microenvironment are contributory factors. As biliary tumors have been shown to be a part of the Lynch syndrome tumor spectrum, it is plausible to speculate that DNA mismatch repair (MMR) deficiency plays a role in biliary tumors. Literature data suggest that DNA MMR deficiency indeed occurs in these tumors, albeit infrequently with the reported frequencies (weighted for sample size) of high level microsatellite instability (MSI) being 5% each for gallbladder carcinoma and carcinoma of extra-hepatic bile ducts, and 10% each for intrahepatic cholangiocarcinoma and ampullary carcinoma...
October 2016: Chinese Clinical Oncology
https://www.readbyqxmd.com/read/27826649/expanding-the-clinical-spectrum-of-chromosome-15q26-terminal-deletions-associated-with-igf-1-resistance
#20
Aisling M O'Riordan, Niamh McGrath, Farhana Sharif, Nuala P Murphy, Orla Franklin, Sally Ann Lynch, Michael J O'Grady
: Haploinsufficiency of the insulin-like growth factor-1 receptor (IGF1R) gene on chromosome 15q26.3 is associated with impaired prenatal and postnatal growth, developmental delay, dysmorphic features and skeletal abnormalities. Terminal deletions of chromosome 15q26 arising more proximally may also be associated with congenital heart disease, epilepsy, diaphragmatic hernia and renal anomalies. We report three additional cases of 15q26 terminal deletions with novel features which may further expand the spectrum of this rarely reported contiguous gene syndrome...
November 8, 2016: European Journal of Pediatrics
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