Lynch Syndrome Common in MSI-High Tumors

Leah LawrenceJun 2, 2018The presence of MSI-high was predictive of Lynch syndrome, which was found to be associated with a much wider spectrum of cancers than previously thought.
Source: CancerNetwork - Category: Cancer & Oncology Authors: Source Type: news

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Conclusion: In this retrospective study, 0.5% (6/1179) of lung cancer patients were found to harbor a germline mutation on MSH2, MSH6 or PMS2. However, two of these patients displayed intact MMR protein expression, MSS and TMB-L. Combined with the baseline characteristics of 6 patients, it seems that lung cancers may not be related to Lynch syndrome. Relationships between the development of lung cancers and Lynch syndrome still requires further large–scale investigations. Nonetheless paired tumor–normal next-generation sequencing can identify germline mutations including that related with Lynch syndrome in canc...
Source: Frontiers in Oncology - Category: Cancer & Oncology Source Type: research
ConclusionCurettage for miscarriage or undesired pregnancy is not exempt from complications, such as hemorrhage, simple perforation, and infection. Intrauterine fallopian tube incarceration is uncommon but can affect fertility. This diagnosis is important to avoid destruction of the fimbriae and necrosis of the tube and also to reduce the risk of ectopic pregnancy.
Source: Journal of Minimally Invasive Gynecology - Category: OBGYN Source Type: research
AbstractLifestyle factors related to energy balance, such as excess body weight, poor diet, and physical inactivity, are associated with risk of sporadic endometrial cancer (EC) and colorectal cancer (CRC). There are limited data on energy balance-related lifestyle factors and EC or CRC risk among individuals with lynch syndrome, who are at extraordinarily higher risk of developing EC or CRC. We conducted a systematic review of evidence related to weight status, weight change, dietary habits, and physical activity on EC and CRC risk among individuals with lynch syndrome. Findings are reported narratively. We searched Medli...
Source: Familial Cancer - Category: Cancer & Oncology Source Type: research
Geneticist who unlocked the secrets of hereditary cancersIn 1962 a medical intern sat with a man recovering from alcohol poisoning in a veterans ’ hospital in the US state of Nebraska. Henry Lynch, who has died aged 91, listened as the young farm worker told him that he liked to drown his sorrows because, as with everyone else in his family, he was pretty much guaranteed to die young of cancer.Lynch, with a background in genetics and psychology, wanted to know more about this family and its high prevalence of cancer. His investigations intothis and other such families led to the discovery of hereditary non-polyposis ...
Source: Guardian Unlimited Science - Category: Science Authors: Tags: Genetics Biology People in science Cancer research Medical research Medicine Education Source Type: news
Lynch syndrome (LS) is an inherited, cancer predisposition syndrome associated with an increased risk of colorectal, endometrial and other cancer types. Identifying individuals with LS allows access to cancer ...
Source: Trials - Category: General Medicine Authors: Tags: Study protocol Source Type: research
ConclusionDiagnosis of LS was mainly depended on the following: the cancer histories of his relatives, multi ‐primary cancers of lung and stomach in his own body, MLH1 and MSH2 gene mutations detected in the cancer tissues. The clinical significance of this new MLH1 c.1896+5G>A germline mutation detected in the LS ‐associated double primary cancer patient needed further study.
Source: Molecular Genetics & Genomic Medicine - Category: Genetics & Stem Cells Authors: Tags: CLINICAL REPORT Source Type: research
Genetics in Medicine, Published online: 17 June 2019; doi:10.1038/s41436-019-0577-zAn alternative approach to establishing unbiased colorectal cancer risk estimation in Lynch syndrome
Source: Genetics in Medicine - Category: Genetics & Stem Cells Authors: Source Type: research
In this study, whole genome comparative genomic hybridization array (array CGH) based genomic analysis was performed on twelve Saudi Lynch syndrome patients. A total of 124 chromosomal alterations (structural loss) were identified at mean log2 ratio cut off value of ±0.25. We also found structural loss in 2p21-p16.3, 3p23-p14.2, 7p22.1 and 1p34.1-p33 regions. These findings were subsequently validated by real time quantitative PCR showing downregulation of MSH2, MSH6, EPCAM, MLH1, PMS2 and MUTYH genes. These findings shall help in establishing database for alterations in mismatch repair genes underlying Lynch syndro...
Source: Saudi Journal of Biological Sciences - Category: Biology Source Type: research
ConclusionsSomatic and germline analyses offered to OC patients has proved to be an efficient strategy for the identification of inherited conditions involving OC also in absence of suggestive family histories. The identification of LS and HBOC syndromes through OC patients is an effective tool for OC prevention.
Source: Cancer Genetics - Category: Cancer & Oncology Source Type: research
CONCLUSIONS: Our hereditary colorectal cancer registry serves a large geographic area, with the largest group of referrals coming from gastroenterologists. Performing this analysis with geographic information systems technology mapping allowed us to identify clustering of patients and providers throughout the region as well as gaps. This information will help to target outreach and distribution of educational materials for providers and their patients to increase registry enrollment. See Video Abstract at http://links.lww.com/DCR/A950.
Source: Diseases of the Colon and Rectum - Category: Gastroenterology Tags: Original Contribution: Colorectal Cancer Source Type: research
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