Researchers develop personalized medicine tool for inherited colorectal cancer syndrome

(Huntsman Cancer Institute) An international team of researchers led by Huntsman Cancer Institute (HCI) at the University of Utah (U of U) has developed, calibrated, and validated a novel tool for identifying the genetic changes in Lynch syndrome genes that are likely to be responsible for causing symptoms of the disease. The results were published this week in the journal Genetics in Medicine.
Source: EurekAlert! - Cancer - Category: Cancer & Oncology Source Type: news

Related Links:

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
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
AbstractBackgroundIdentification of Lynch syndrome (LS) followed by annual/biannual surveillance colonoscopy markedly reduces the risk of developing new colorectal cancer (CRC) among those with LS.Aims(1) To determine the current practice of identifying LS in the USA and Canada, and current surveillance and management practices for those diagnosed with LS; (2) to determine whether variances in current practice are physician/region dependent or influenced by ease of access to specialist clinics.MethodsAn online survey request was sent to practicing gastroenterologists through the Canadian Association of Gastroenterology and...
Source: Digestive Diseases and Sciences - Category: Gastroenterology Source Type: research
Conclusion: The incremental diagnostic yield decreased substantially after age 70 to 75 years. Stopping reflex CRC screening for LS after age 80 years may be reasonable because of very low efficiency, particularly in resource-limited settings, but this merits further investigation. Studies evaluating the effect of diagnosing LS in elderly persons on their family members are needed. Primary Funding Source: Kaiser Permanente Northern California Division of Research. PMID: 31181578 [PubMed - as supplied by publisher]
Source: Annals of Internal Medicine - Category: Internal Medicine Authors: Tags: Ann Intern Med Source Type: research
A pioneer in the study of cancer and genetics, Lynch discovered the most common form of hereditary colorectal cancer, now known as Lynch syndrome.Medscape Medical News
Source: Medscape Hematology-Oncology Headlines - Category: Cancer & Oncology Tags: Hematology-Oncology News Source Type: news
More News: Cancer | Cancer & Oncology | Colorectal Cancer | Genetics | HNPCC | Lynch Syndrome