نتایج جستجو برای: lynch syndrome

تعداد نتایج: 623651  

Journal: :Nuclear medicine review. Central & Eastern Europe 2010
Francesco Bertagna Gsiiorgio Biaotto Giovanni Bosio Silvia Lucchini Claudio Pizzocaro Arturo Terzi Pierluigi Rossini Raffaele Giubbini

Lynch syndrome (LS) is the most common hereditary syndrome that predisposes patients to colorectal cancer, and it accounts for 2-5% of the total burden of colorectal cancer. We report a case of a 61-year-old female affected by Lynch syndrome who underwent multiple adenocarcinoma resections, studied by F18-FDG-PET/CT for 5 years. This case report suggests a potential role of F18-FDG-PET/CT in th...

2011
Matthew B Yurgelun Ajay Goel C Richard Boland Elena M Stoffel

Background Lynch syndrome is characterized by germline mutations in DNA mismatch repair (MMR) genes and carries up to a 70% lifetime risk of colorectal cancer. Impaired MMR gene function results in an abundance of small aberrant nucleotide repeat sequences termed microsatellite instability (MSI). MSI is present in 80-85% of colorectal cancers associated with Lynch syndrome. Prior studies have d...

Journal: :Hereditary Cancer in Clinical Practice 2008

Journal: :Journal of the National Cancer Institute 2010
Henry T Lynch Stephen J Lanspa

The cardinal features of colorectal cancer in patients with the MUTYH-associated polyposis syndrome, featured in this editorial, are of very recent discovery and remain under review as new clinical phenotypes for these patients are still being identified. Importantly, its phenotype results from homozygosity of the MUTYH gene and, therefore, is inherited in an autosomal recessive pattern. In a m...

Journal: :International Journal of Cancer 2009

2017
Hai Hu Hong Li Feng Jiao Ting Han Meng Zhuo Jiujie Cui Yixue Li Liwei Wang

BACKGROUND Multiple primary cancers (MPC) have been identified as two or more cancers without any subordinate relationship that occur either simultaneously or metachronously in the same or different organs of an individual. Lynch syndrome is an autosomal dominant genetic disorder that increases the risk of many types of cancers. Lynch syndrome patients who suffer more than two cancers can also ...

Journal: :Hereditary Cancer in Clinical Practice 2008
Rein P Stulp Johanna C Herkert Arend Karrenbeld Bart Mol Yvonne J Vos Rolf H Sijmons

Lynch syndrome (HNPCC) is a dominantly inherited disorder characterized by germline defects in DNA mismatch repair (MMR) genes and the development of a variety of cancers, predominantly colorectal and endometrial. We present a 44-year-old woman who was shown to carry the truncating MSH2 gene mutation that had previously been identified in her family. Recently, she had been diagnosed with an und...

2017
Monika Fazekas-Lavu Andrew Parker Allan D Spigelman Rodney J Scott Richard J Epstein Michael Jensen Katherine Samaras

Lynch syndrome describes a familial cancer syndrome comprising germline mutations in one of four DNA mismatch repair genes, MLH1, MSH2, MSH6, and PMS2 and is characterized by colorectal, endometrial, and other epithelial malignancies. Thyroid cancer is not usually considered to be part of the constellation of Lynch syndrome cancers nor have Lynch syndrome tumor gene mutations been reported in t...

2012
Melissa K Frey Mollie A Biewald Michael J Worley Jolyn S Taylor Stephanie N Lin Kevin Holcomb

INTRODUCTION: Lynch syndrome was first described in the 1950s however until recently it was rarely included in medical school curricula. As a result, many practicing physicians have limited exposure, potentially contributing to significant under diagnosis. As identification of Lynch syndrome prior to malignancy allows for intensified screening, prophylactic surgery and improved patient outcomes...

2013
Helle Vendel Petersen Steen Ladelund Christina Carlsson Mef Nilbert

OBJECTIVE Most individuals who learn about hereditary cancer manage well, but identification of subgroups who find this knowledge burdening would allow psychosocial intervention. The objective of the study was to assess sense of coherence (SOC) in individuals with Lynch syndrome with comparison to a general population and correlation to self-concept. METHODS A total of 345 individuals with Ly...

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