Hereditary Diffuse Gastric Cancer: Updated Clinical Practice Guidelines
Vanessa Blair,Maybelle McLeod,Fátima Carneiro,Daniel G. Coit,Johanna L. D'Addario,Jolanda M. van Dieren,Kirsty L. Harris,Nicoline Hoogerbrugge,Carla Oliveira,Rachel S. van der Post,Julie Arnold,Patrick R. Benusiglio,Tanya M. Bisseling,Alex Boussioutas,Annemieke Cats,Amanda Charlton,Karen E Chelcun Schreiber,Jeremy L. Davis,Massimiliano di Pietro,Rebecca C. Fitzgerald,James M. Ford,Kimberley Gamet,Irene Gullo,Richard H. Hardwick,David G. Huntsman,Pardeep Kaurah,Sonia S. Kupfer,Andrew Latchford,Paul F. Mansfield,Takeshi Nakajima,Susan Parry,Jeremy Rossaak,Haruhiko Sugimura,Magali Svrcek,Marc Tischkowitz,Toshikazu Ushijima,Hidetaka Yamada,Han Kwang Yang,Adrian Claydon,Joana Figueiredo,Karyn Paringatai,Raquel Seruca,Nicola Bougen-Zhukov,Tom Brew,Simone Busija,Patrícia Carneiro,Lynn DeGregorio,Helen L. Fisher,Erin Gardner,Tanis D Godwin,Katharine Nichole Holm,Bostjan Humar,C. J. Lintott,Elizabeth C. Monroe,Mark D. Muller,Enrique Norero,Yasmin Nouri,Joana Paredes,Joao Sanches,Emily Schulpen,Ana Sofia Ribeiro,Andrew A. Sporle,James Whitworth,Liying Zhang,Anthony E. Reeve,Parry Guilford +65 more
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TL;DR: In this article, the authors present updated clinical practice guidelines for hereditary diffuse gastric cancer (HDGC) from the International Gastric Cancer Linkage Consortium (IGCLC), which recognise the emerging evidence of variability in Gastric cancer risk between families with HDGC, and increased experience of managing long-term sequelae of total gastrectomy in young patients.
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Abstract: Hereditary diffuse gastric cancer (HDGC) is an autosomal dominant cancer syndrome that is characterised by a high prevalence of diffuse gastric cancer and lobular breast cancer. It is largely caused by inactivating germline mutations in the tumour suppressor gene CDH1, although pathogenic variants in CTNNA1 occur in a minority of families with HDGC. In this Policy Review, we present updated clinical practice guidelines for HDGC from the International Gastric Cancer Linkage Consortium (IGCLC), which recognise the emerging evidence of variability in gastric cancer risk between families with HDGC, the growing capability of endoscopic and histological surveillance in HDGC, and increased experience of managing long-term sequelae of total gastrectomy in young patients. To redress the balance between the accessibility, cost, and acceptance of genetic testing and the increased identification of pathogenic variant carriers, the HDGC genetic testing criteria have been relaxed, mainly through less restrictive age limits. Prophylactic total gastrectomy remains the recommended option for gastric cancer risk management in pathogenic CDH1 variant carriers. However, there is increasing confidence from the IGCLC that endoscopic surveillance in expert centres can be safely offered to patients who wish to postpone surgery, or to those whose risk of developing gastric cancer is not well defined.
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Principles of molecular testing for hereditary cancer
TL;DR: An overview of general principles for molecular germline testing for hereditary cancer syndromes is provided, which overviews hereditary cancer etiology, clinical indications for molecular testing, test methodologies and limitations, interpretation and reporting of test results, the evolving nature of evidence on gene‐disease relationships and penetrance, and resources related to the clinical management of hereditary cancers.
I LIVRO DA ABLAC-BR: A Cirurgia Sob as Lentes das Ligas Acadêmicas
Thais Cristina de Aquino Lima,Felipe Andrade de Lima Trindade,Heitor Yuri Nogara +2 more
- 09 Jun 2024
TL;DR: O livro "I LIVRO DA ABLAC-BR: A Cirurgia Sob as Lentes das Ligas Acadêmicas" apresenta uma coleção de textos sobre cirurgia, trazendo à luz a cultura acadêmica de cirurgia no Brasil.
Additional file 11 of E-cadherin variants associated with oral facial clefts trigger aberrant cell motility in a REG1A-dependent manner
Pereira, Joana,Carvalho, João,Figueiredo Céu,Machado Jose Carlos,Seruca Raquel,Figueiredo Joana +5 more
- 14 Aug 2024
Abstract: Additional file 11.
Additional file 1 of System-wide identification of novel de-ubiquitination targets for USP10 in gastric cancer metastasis through multi-omics screening
Zeng Zhi,Li Yina,Zhou, Heng,Li Mingyang,Ye Juan,Li Dan,Zhu Yuxi,Zhang Yong-Gang,Zhang Xu,Deng Yun-chao,Li Juan,Gu Lijuan,Wu Jie +12 more
- 28 Jun 2024
Abstract: Supplementary Material 1
RNA-seq Splicing Profile of the CDH1 Gene and Its Impact on the Clinical Pathogenicity Classification of CDH1 Variants: A Description of Alternative and Pathogenic Splicing Patterns
Molka Sebai,Roseline Tang,Yahia Adnani,Alice Fievet,Odile Cabaret,Marie-Aude Robert de Rancher,Nathalie Auger,Yasmina Elaribi,Houweyda Jilani,Jean‐Marc Limacher,Olivier Caron,Lamia Ben Jemâa,Etienne Rouleau,Molka Sebai,Roseline Tang,Yahia Adnani,Alice Fievet,Odile Cabaret,Nathalie Auger,Yasmina Elaribi,Houweyda Jilani,Jean‐Marc Limacher,Olivier Caron,Lamia Ben Jemâa,Etienne Rouleau,Robert de Rancher Marie-Aude +25 more
Abstract: Background/Objectives: CDH1 gene is widely studied, as pathogenic variants are involved in diffuse gastric cancers and lobular breast cancers. CDH1 genotype contributes to the management of clinical practice recommendations for cancer prevention. We proposed a qualitative and quantitative description of CDH1 alternative splicing profile on lymphoblastoid cell lines (LCLs). The aim of this description was to allow a comprehensive interpretation of the effect of variants of uncertain significance (VUS) on CDH1 splicing. Methods: We studied, using RNAseq, the splicing profile of 22 LCLs (untreated and treated with puromycin) with no pathogenic variant on CDH1 and evaluated the effect on CDH1 splicing of four VUS. Results: We highlighted a total of eleven alternative splicing events including four junctions starting from intron 2, defining novel isoforms of CDH1. We also identified an isoform causing the skip of exon 11 and leading to a disruption of the reading frame with high levels of expression on negative CDH1 control LCLs, confirmed by ddPCR. Splicing RNAseq results for CDH1 VUS: c.1008+1G>A and c.1936+5G>A showed complex splicing patterns but allowed their classification as pathogenic. We studied CDH1 VUS exon 4 to exon 11 duplication with RNA analysis combined with Bionano optical genome mapping. Depending on alternative splicing of proximal and distal exons 11 within the duplication, we identified four distinct transcripts, leading to truncated proteins, classifying the duplication as pathogenic. Conclusions:CDH1 has a complex alternative splicing profile characterized by a dynamic splicing of intron 2 making CDH1 a good candidate for a study using long-read RNAseq.
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Sue Richards,Nazneen Aziz,Nazneen Aziz,Sherri J. Bale,David P. Bick,Soma Das,Julie M. Gastier-Foster,Wayne W. Grody,Madhuri Hegde,Elaine Lyon,Elaine B. Spector,Karl V. Voelkerding,Heidi L. Rehm +12 more
TL;DR: Because of the increased complexity of analysis and interpretation of clinical genetic testing described in this report, the ACMG strongly recommends thatclinical molecular genetic testing should be performed in a Clinical Laboratory Improvement Amendments–approved laboratory, with results interpreted by a board-certified clinical molecular geneticist or molecular genetic pathologist or the equivalent.
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GRADE guidelines: 3. Rating the quality of evidence
Howard Balshem,Mark Helfand,Mark Helfand,Holger J. Schünemann,Andrew D Oxman,Regina Kunz,Jan Brozek,Gunn Elisabeth Vist,Yngve Falck-Ytter,Joerg J Meerpohl,Susan L Norris,Gordon H. Guyatt +11 more
TL;DR: The approach of GRADE to rating quality of evidence specifies four categories-high, moderate, low, and very low-that are applied to a body of evidence, not to individual studies.
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E-cadherin germline mutations in familial gastric cancer
Parry Guilford,Justin Hopkins,James Harraway,Maybelle McLeod,Ngahiraka McLeod,Pauline Harawira,Huriana Taite,Robin Scoular,Andrew P. Miller,Anthony E. Reeve +9 more
TL;DR: The identification of the gene responsible for early-onset, histologically poorly differentiated, high grade, diffuse gastric cancer in a large kindred from Aotearoa is described and the important role of E-cadherin mutations in cancer is confirmed.
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