Family History and Genomics as Tools for Cancer Prevention Family History and Genomics as Tools for Cancer Prevention

This brief examines the role of public health initiatives for cancer genomics at the federal, state, and community level, with a focus on hereditary breast and ovarian cancers and Lynch syndrome.Morbidity &Mortality Weekly Report
Source: Medscape Today Headlines - Category: Consumer Health News Tags: Hematology-Oncology Journal Article Source Type: news

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Conditions:   Hereditary Breast and Ovarian Cancer;   Lynch Syndrome Intervention:   Other: Families Accelerating Cascade Testing Toolkit Sponsors:   Washington University School of Medicine;   Barnes-Jewish Hospital Not yet recruiting
Source: ClinicalTrials.gov - Category: Research Source Type: clinical trials
Authors: Piombino C, Cortesi L, Lambertini M, Punie K, Grandi G, Toss A Abstract BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndromes are among the best-known and most extensively studied hereditary cancer syndromes. Nevertheless, many patients who proved negative at BRCA genetic testing bring pathogenic mutations in other suppressor genes and oncogenes associated with hereditary breast and/or ovarian cancers. These genes include TP53 in Li-Fraumeni syndrome, PTEN in Cowden syndrome, mismatch repair (MMR) genes in Lynch syndrome, CDH1 in diffuse gastric cancer syndrome, STK11 in Peutz-Jeghers ...
Source: Journal of Oncology - Category: Cancer & Oncology Tags: J Oncol Source Type: research
The original version of this article unfortunately contained mistakes.
Source: Journal of Cancer Education - Category: Cancer & Oncology Source Type: research
With a great deal of interest we read the article entitled ” Hormone Replacement Therapy Prescription After Premature Surgical Menopause” by Garg et al [1]. They analysed a cohort of Sixty-three of which 20.6% had operation for gynaecological cancer including cervical cancer (1.6%), uterine cancer (14.2%), and ovarian cancer (4.8%).Other indications wer e BRCA carrier (17.4%), breast cancer (9.5%), Lynch syndrome (4.8%). Women treated for gynaecological or breast cancer or had BRCA gene mutations were less likely to use HRT.
Source: The Journal of Minimally Invasive Gynecology - Category: OBGYN Authors: Tags: LETTER TO THE EDITOR Source Type: research
In conclusion, somatic mutational signatures suggest that conventional MMR status of tumor tissues is likely to underestimate the significance of the predisposing MMR defects as contributors to breast tumorigenesis in LS. PMID: 32292574 [PubMed]
Source: Oncotarget - Category: Cancer & Oncology Tags: Oncotarget Source Type: research
Mismatch repair deficiency (MMRD) is involved in the initiation of both hereditary and sporadic tumors. MMRD has been extensively studied in colorectal cancer and endometrial cancer, but not so in other tumors, such as ovarian carcinoma. We have determined the expression of mismatch repair proteins in a large cohort of 502 early-stage epithelial ovarian carcinoma entailing all the 5 main subtypes: high-grade serous carcinoma, endometrioid ovarian carcinoma (EOC), clear cell carcinoma (CCC), mucinous carcinoma, and low-grade serous carcinoma. We studied the association of MMRD with clinicopathologic and immunohistochemical ...
Source: The American Journal of Surgical Pathology - Category: Pathology Tags: Original Articles Source Type: research
We present the first case of ileum cancer in a patie...
Source: BMC Medical Genetics - Category: Genetics & Stem Cells Authors: Tags: Case report Source Type: research
(Abstracted from Gynecol Oncol 2020;156:140–146) The 2 most common germline mutations causing cancer in the United States are BRCA1/2 mutations associated with hereditary breast and ovarian cancer (HBOC) and mismatch repair (MMR) gene mutations associated with Lynch syndrome (LS). A first-degree relative of a patient with one of these mutations incurs a 50% chance of inheriting the same mutation, and early detection can inform treatment and preventive procedures.
Source: Obstetrical and Gynecological Survey - Category: OBGYN Tags: GYNECOLOGY: GYNECOLOGIC ONCOLOGY Source Type: research
AbstractThe aims of the Prospective Lynch Syndrome Database (PLSD) are to provide empirical prospectively observed data on the incidences of cancer in different organs, survival following cancer and the effects of interventions in carriers of pathogenic variants of the mismatch repair genes (path_MMR) categorized by age, gene and gender. Although PLSD is assumption-free, as with any study the ascertainment procedures used to identify the study cohort will introduce selection biases which have to be declared and considered in detail in order to provide robust and valid results. This paper provides a commentary on the method...
Source: Hereditary Cancer in Clinical Practice - Category: Cancer & Oncology Source Type: research
Abstract About 23% of adnexal tumors are related to a hereditary syndrome, most often hereditary breast and ovarian cancer syndrome or Lynch syndrome, responsible of epithelial tumors. However, the pathologist should be aware of rare hereditary syndromes responsible of non-epithelial ovarian tumors. Ovarian tumors associated with germline mutation of BRCA genes are essentially high-grade serous carcinomas of tubal origin, while those seen in Lynch syndrome are most often endometrioid or clear cell carcinomas. Sex-cord tumors associated with a familial predisposition are Sertoli-Leydig cell tumors in DICER syndrome...
Source: Annales de Pathologie - Category: Pathology Authors: Tags: Ann Pathol Source Type: research
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