Two new breast cancer genes emerge from lynch syndrome gene study

(Columbia University Medical Center) Columbia University researchers have identified two new breast cancer genes that also cause Lynch syndrome.
Source: EurekAlert! - Cancer - Category: Cancer & Oncology Source Type: news

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This study provides definitive evidence and possible mechanisms of intra-familial phenotypic heterogeneity in VHL families, which is helpful to the update of surveillance guidelines. Introduction von Hippel-Lindau (VHL) disease (MIM 193300) is a rare autosomal dominant cancer syndrome caused by germline mutations in the VHL tumor suppressor gene (Latif et al., 1993; Lonser et al., 2003). Generally, the first VHL-related manifestation occurred in the third decade of patient’s life, and the penetrance is more than 90% by 70 years old (Ong et al., 2007; Nordstrom-O’brien et al., 2010). Patients may develop...
Source: Frontiers in Genetics - Category: Genetics & Stem Cells Source Type: research
Conclusions: The CRC stage and interval since last colonoscopy were not correlated, which is in conflict with the accelerated adenoma-carcinoma paradigm. We have previously reported that more frequent colonoscopy is not associated with lower incidence of CRC in path_MMR carriers as was expected. In contrast, point estimates showed a higher incidence with shorter intervals between examinations, a situation that may parallel to over-diagnosis in breast cancer screening. Our findings raise the possibility that some CRCs in path_MMR carriers may spontaneously disappear: the host immune response may not only remove CRC precurso...
Source: Clinical Genitourinary Cancer - Category: Cancer & Oncology Authors: Tags: Hered Cancer Clin Pract Source Type: research
ConclusionsThe CRC stage and interval since last colonoscopy were not correlated, which is in conflict with the accelerated adenoma-carcinoma paradigm. We have previously reported that more frequent colonoscopy is not associated with lower incidence of CRC inpath_MMR carriers as was expected. In contrast, point estimates showed a higher incidence with shorter intervals between examinations, a situation that may parallel to over-diagnosis in breast cancer screening. Our findings raise the possibility that some CRCs inpath_MMR carriers may spontaneously disappear: the host immune response may not only remove CRC precursor le...
Source: Hereditary Cancer in Clinical Practice - Category: Cancer & Oncology Source Type: research
Response to Roberts et al. 2018: cohort ascertainment and methods of analysis impact the association between cancer and genetic predisposition - the tale of breast cancer risk and Lynch syndrome genes MSH6/PMS2Response to Roberts et al. 2018: cohort ascertainment and methods of analysis impact the association between cancer and genetic predisposition - the tale of breast cancer risk and Lynch syndrome genes MSH6/PMS2, Published online: 28 February 2019; doi:10.1038/s41436-019-0471-8Response to Roberts et al. 2018: cohort ascertainment and methods of analysis impact the association between cancer and gen...
Source: Genetics in Medicine - Category: Genetics & Stem Cells Authors: Source Type: research
Consumer genetics company 23andMe is diving deeper into the medical space. On Jan. 22, the company announced that the Food and Drug Administration (FDA) approved its newest report, which can flag whether people have genetic variants that may raise their risk of developing colorectal cancer. The new test looks for two gene variants associated with MUTYH-associated polyposis, an inherited colorectal cancer syndrome. “If left unchecked, carrying both of these variants or having two copies of one increases the risk of developing colorectal cancer to between 43 and 100 percent,” according to 23andMe. The test will b...
Source: TIME: Health - Category: Consumer Health News Authors: Tags: Uncategorized Cancer healthytime Source Type: news
(Bloomberg) — DNA testing company 23andMe Inc. said it has gotten the green light from the U.S. Food and Drug Administration to offer consumers a test for a hereditary colorectal cancer syndrome. 23andMe said it will now be able to tell customers whether they have two genetic variants that influence MUTYH-associated polyposis, a rare condition associated with an increased risk of colorectal cancer. The FDA didn’t immediately respond to a request for comment. Key Insights It’s the second test associated with cancer risk for which 23andMe has received FDA clearance. Last March, the Mountain View, Califo...
Source: TIME: Health - Category: Consumer Health News Authors: Tags: Uncategorized DNA Testing onetime Source Type: news
ConclusionsOur data suggest the spectrum of genotyped mutations in AJ BC patients with a personal or family history of LS-related cancers should be expanded. These data should be validated in other populations with a similar phenotype.
Source: Cancer Causes and Control - Category: Cancer & Oncology Source Type: research
Women developing endometrial cancer after tamoxifen treatment for breast cancer are more likely to develop tumours with poorer prognostic features and exhibit poorer survival after adjustment for these prognostic features. Results indicate the importance of longer ‐term monitoring of women treated with tamoxifen for cancer symptoms. Report of prior cancer is a significant indicator of MMR pathogenic variant status, but molecular analysis of endometrial tumors at diagnosis is warranted to detect all patients with Lynch Syndrome. AbstractWe hypothesized that endometrial carcinoma (EC) patients with a prior cancer diagnosis...
Source: Cancer Medicine - Category: Cancer & Oncology Authors: Tags: ORIGINAL RESEARCH Source Type: research
CONCLUSIONS: Our study results showed BC in Japanese females with LS to be an MSI-H tumor, which was ER and PgR positive and HER2 negative. PMID: 30446972 [PubMed - as supplied by publisher]
Source: Breast Cancer - Category: Cancer & Oncology Authors: Tags: Breast Cancer Source Type: research
AbstractChoosing the optimal therapy for a patient's cancer has long been based on whether the cancer demonstrates a predictive marker of efficacy. The U.S. Food and Drug Administration (FDA) has now approved use of a targeted therapy based solely on tumor molecular markers (pembrolizumab for tumors with deficient mismatch repair [MMR] and high microsatellite instability [MSI]) and approved another therapy based solely on a germline mutation as the predictive marker of benefit (olaparib for BRCA carriers with ovarian or breast cancer) [New Engl J Med 2017;377:1409–1412, N Engl J Med 2012;366:1382–1392, N Eng J ...
Source: The Oncologist - Category: Cancer & Oncology Authors: Tags: Precision Medicine, Breast Cancer Precision Medicine Clinic: Molecular Tumor Board Source Type: research
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