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Background: The most frequently identified strong cancer predisposition mutations for colorectal cancer (CRC) are those in the mismatch repair (MMR) genes in Lynch syndrome. Laboratory diagnostics include testing tumors for immunohistochemical staining (IHC) of the Lynch syndrome-associated DNA MMR proteins and/or for microsatellite instability (MSI) followed by sequencing or other techniques, such as denaturing high performance liquid chromatography (DHPLC), to identify the mutation. Methods: In an ongoing project focusing on finding Mendelian cancer syndromes we applied whole-exome/whole-genome sequencing (WES/WGS) to 19 CRC families. Results: Three families were identified with a pathogenic/likely pathogenic germline variant in a MMR gene that had previously tested negative in DHPLC gene variant screening. All families had a history of CRC in several family members across multiple generations. Tumor analysis showed loss of the MMR protein IHC staining corresponding to the mutated genes, as well as MSI. In family A, a structural variant, a duplication of exons 4 to 13, was identified in MLH1. The duplication was predicted to lead to a frameshift at amino acid 520 and a premature stop codon at amino acid 539. In family B, a 1 base pair deletion was found in MLH1, resulting in a frameshift and a stop codon at amino acid 491. In family C, we identified a splice site variant in MSH2, which was predicted to lead loss of a splice donor site. Conclusions: We identified altogether three pathogenic/likely pathogenic variants in the MMR genes in three of the 19 sequenced families. The MLH1 variants, a duplication of exons 4 to 13 and a frameshift variant, were novel, based on the InSiGHT and ClinVar databases; the MSH2 splice site variant was reported by a single submitter in ClinVar. As a variant class, duplications have rarely been reported in the MMR gene literature, particularly those covering several exons. ; The study was supported by the EU Transcan Project, the European Union's Horizon 2020 research and ...

The Confederate Graves Survey Archive of the Texas Division, Sons of Confederate Veterans consists of surveys of cemetaries throughout Texas, and portions of Oklahoma and New Mexico. The surveys document the interment of Confederate States of America military veterans. United States of America (Union) veterans, as well as able-bodied men at the time of the Civil War, are also documented. 13 boxes entitled "Grave Surveys" contain grave surveys listed county-by-county, 3 boxes of "Unit Files" list surveyed individuals by their military unit. Finally, 17 boxes contain "Veteran Files" that document each veteran by name in "last name, first name, middle initial" format. An index that cross-references each of the collection series (Grave Surveys, Unit Files, and Veteran Files) is included, as are institutions to surveyors on how and what to document while conducting surveys. ; Grave Survey Results: 0 Marked Confederate, 0 Marked Union, 4 Able Bodied Men, 0 I.D. Confederate, 0 I.D. Union, 0 Total Confederate, 0 Total Union, 4 Non-Veteran, 4 Total Graves Surveyed, 0 Total Veterans.

The pedigrees of the Anglo-Norman Lynches who settled in Galway are mostly derived from the descendants of James and William, the sons of Thomas Lynch, the first Provost of Galway in 1274. The progression of the family in Ireland was emphasised by the appointment of more than eighty mayors of Galway named Lynch between 1485 and 1654. When James I bestowed a baronetcy on Henry Lynch, a rich merchant, in 1622 their elevated status was confirmed. However, political controversy intervened when Henry Lynch, 3rd Bt, was attainted of high treason following the defeat of James II at the Battle of the Boyne. Personal controversy followed with the liaison of Henry Lynch-Blosse, 7th Bt with the alluring Sibella Cottle which scandalized the community. The story has been outlined by the author in his historical novel, "Spellbound by Sibella." The Lynch-Blosses continued to serve in Ireland until the purchase of their estate of 18,566 acres by the Congested District?s Board in 1909 for ?154,000. Thereafter, the family settled in Wales and later in England. The current incumbent is Richard Hely Lynch-Blosse, 17th Bt, a general practitioner in Oxfordshire. The Anglo-Norman Lynches who settled in Galway have been connected to famous people and events including the Bodkin massacre, Che Guevara, James II, Richard ?Humanity Dick? Martin MP, Grace O?Malley, Patrick Sarsfield and Bram Stoker. These connections are illustrated in pedigree charts derived from a BrothersKeeper.com database of 2843 individuals. The database also includes members of the extended family of the author.

Publisher's version (útgefin grein) ; Two familial forms of colorectal cancer (CRC), Lynch syndrome (LS) and familial adenomatous polyposis (FAP), are caused by rare mutations in DNA mismatch repair genes (MLH1, MSH2, MSH6, PMS2) and the genes APC and MUTYH, respectively. No information is available on the presence of high‐risk CRC mutations in the Romanian population. We performed whole‐genome sequencing of 61 Romanian CRC cases with a family history of cancer and/or early onset of disease, focusing the analysis on candidate variants in the LS and FAP genes. The frequencies of all candidate variants were assessed in a cohort of 688 CRC cases and 4567 controls. Immunohistochemical (IHC) staining for MLH1, MSH2, MSH6, and PMS2 was performed on tumour tissue. We identified 11 candidate variants in 11 cases; six variants in MLH1, one in MSH6, one in PMS2, and three in APC. Combining information on the predicted impact of the variants on the proteins, IHC results and previous reports, we found three novel pathogenic variants (MLH1:p.Lys84ThrfsTer4, MLH1:p.Ala586CysfsTer7, PMS2:p.Arg211ThrfsTer38), and two novel variants that are unlikely to be pathogenic. Also, we confirmed three previously published pathogenic LS variants and suggest to reclassify a previously reported variant of uncertain significance to pathogenic (MLH1:c.1559‐1G>C). ; This study was funded in part by the European Union FP7 Program (ProMark project 202059) and by the EEA grant (ROMCAN project RO14‐0017; EEAJRP‐RO‐NO‐20131‐10191). We thank the study participants, the staff at deCODE Genetics Iceland and Landspitali University Hospital. ; Peer Reviewed

In Legacy of Violence, John D. Bessler takes us on a compelling journey through the history of lynchings and state-sanctioned executions that dramatically shaped Minnesotas past. Through personal accounts of those involved with the events, Bessler traces the history of both famous and lesser-known executions and lynchings in Minnesota, the states antideath penalty and anti-lynching movements, and the role of the media in the death penalty debate

An increasing lack of commitment and brutalization was observed due to the erosion of traditional communities in late modernism (cf. Duerr 1993; Sennet 1998). In Social Media, this is shown as an aggressive style (flaming) or as "hate speech" (cf. Butler 2013), increasingly in organized forms of ensembles of actors of aggression directed specifically against individuals. This libel and these hate acts underlie a complex practice which can be described with Harold Garfinkel's concept as "status degradation ceremony". Garfinkel's terms refer to court cases, i. e. an institutionalized form of aggression exercising – according to Sigmund Freud's terms one of the main benefits of every culture in order to prevent violent squalor and brutality. At the same time, however, Freud also expressed unease ("Unbehagen") that this aggression could more or less break with institutional failure. Today, such processes can be increasingly observed in a bandwidth ranging from simple online petitions to radical forms of vigilantism. In order to understand why individuals take the law into their own hands and – often associated with a more or less large swarm formation – why they are trying to define law, to judge, and even to execute their own "judgments" outside of the democratically constituted legal system, a second concept is introduced, the concept of "Selbstermächtigung" which refers to practices of autonomy. This concept of "Selbstermächtigung" is understood as a time diagnostic term to describe a number of communicative practices which could jeopardize democracy in one of its institutional foundations in question: its legal constitution. "Selbstermächtigung" describes a contemporary mentality which contains a strong, emotionally charged tension between the individual and the institution namely in all sorts of social institutions, such as in health, science, but also democracy – which only just enables these criticism of institutions. From the two analytical concepts of "Selbstermächtigung" and the status degradation ...