A Rare MSH2 Variant as a Candidate Marker for Lynch Syndrome II Screening in Tunisia: A Case of Diffuse Gastric Carcinoma.

Autor: Kabbage M; Department of Human and Experimental Pathology, Institut Pasteur de Tunis, Tunis 1002, Tunisia.; Laboratory of Biomedical Genomics and Oncogenetics, Institut Pasteur de Tunis, Tunis EL Manar University, Tunis 1002, Tunisia., Ben Aissa-Haj J; Department of Human and Experimental Pathology, Institut Pasteur de Tunis, Tunis 1002, Tunisia.; Laboratory of Biomedical Genomics and Oncogenetics, Institut Pasteur de Tunis, Tunis EL Manar University, Tunis 1002, Tunisia., Othman H; Sydney Brenner Institute for Molecular Bioscience, University of the Witwatersrand, Johannesburg 2000, South Africa., Jaballah-Gabteni A; Department of Human and Experimental Pathology, Institut Pasteur de Tunis, Tunis 1002, Tunisia.; Laboratory of Biomedical Genomics and Oncogenetics, Institut Pasteur de Tunis, Tunis EL Manar University, Tunis 1002, Tunisia., Laarayedh S; Department of Human and Experimental Pathology, Institut Pasteur de Tunis, Tunis 1002, Tunisia.; Laboratory of Biomedical Genomics and Oncogenetics, Institut Pasteur de Tunis, Tunis EL Manar University, Tunis 1002, Tunisia., Elouej S; Marseille Medical Genetics, Aix Marseille University, INSERM, 13007 Marseille, France., Medhioub M; Laboratory of Biomedical Genomics and Oncogenetics, Institut Pasteur de Tunis, Tunis EL Manar University, Tunis 1002, Tunisia.; Gastroenterology Department, Mohamed Tahar Maamouri Hospital, Nabeul 8000, Tunisia., Kettiti HT; Department of Human and Experimental Pathology, Institut Pasteur de Tunis, Tunis 1002, Tunisia.; Laboratory of Biomedical Genomics and Oncogenetics, Institut Pasteur de Tunis, Tunis EL Manar University, Tunis 1002, Tunisia., Khsiba A; Laboratory of Biomedical Genomics and Oncogenetics, Institut Pasteur de Tunis, Tunis EL Manar University, Tunis 1002, Tunisia.; Gastroenterology Department, Mohamed Tahar Maamouri Hospital, Nabeul 8000, Tunisia., Mahmoudi M; Laboratory of Biomedical Genomics and Oncogenetics, Institut Pasteur de Tunis, Tunis EL Manar University, Tunis 1002, Tunisia.; Gastroenterology Department, Mohamed Tahar Maamouri Hospital, Nabeul 8000, Tunisia., BelFekih H; Laboratory of Biomedical Genomics and Oncogenetics, Institut Pasteur de Tunis, Tunis EL Manar University, Tunis 1002, Tunisia.; Department of Oncology, Mohamed Tahar Maamouri Hospital, Nabeul 8000, Tunisia., Maaloul A; Department of Human and Experimental Pathology, Institut Pasteur de Tunis, Tunis 1002, Tunisia., Touinsi H; Department of Surgery, Mohamed Tahar Maamouri Hospital, Nabeul 8000, Tunisia., Hamzaoui L; Laboratory of Biomedical Genomics and Oncogenetics, Institut Pasteur de Tunis, Tunis EL Manar University, Tunis 1002, Tunisia.; Gastroenterology Department, Mohamed Tahar Maamouri Hospital, Nabeul 8000, Tunisia., Chelbi E; Laboratory of Biomedical Genomics and Oncogenetics, Institut Pasteur de Tunis, Tunis EL Manar University, Tunis 1002, Tunisia.; Department of Pathology, Mohamed Tahar Maamouri Hospital, Nabeul 8000, Tunisia., Abdelhak S; Laboratory of Biomedical Genomics and Oncogenetics, Institut Pasteur de Tunis, Tunis EL Manar University, Tunis 1002, Tunisia., Boubaker MS; Department of Human and Experimental Pathology, Institut Pasteur de Tunis, Tunis 1002, Tunisia.; Laboratory of Biomedical Genomics and Oncogenetics, Institut Pasteur de Tunis, Tunis EL Manar University, Tunis 1002, Tunisia., Azzouz MM; Laboratory of Biomedical Genomics and Oncogenetics, Institut Pasteur de Tunis, Tunis EL Manar University, Tunis 1002, Tunisia.; Gastroenterology Department, Mohamed Tahar Maamouri Hospital, Nabeul 8000, Tunisia.

Publikováno v: Genes [Genes (Basel)] 2022 Jul 28; Vol. 13 (8). Date of Electronic Publication: 2022 Jul 28.

Universal endometrial cancer tumor typing: How much has immunohistochemistry, microsatellite instability, and MLH1 methylation improved the diagnosis of Lynch syndrome across the population?

Autor: Kahn RM; Department of Obstetrics and Gynecology, Weill Cornell Medical College, New York, New York., Gordhandas S; Department of Obstetrics and Gynecology, Weill Cornell Medical College, New York, New York., Maddy BP; Department of Obstetrics and Gynecology, Weill Cornell Medical College, New York, New York., Baltich Nelson B; Department of Information Technologies and Services, Weill Cornell Medical College, New York, New York., Askin G; Clinical and Translational Science Center, Department of Biostatistics and Epidemiology, Weill Cornell Medical College, New York, New York., Christos PJ; Clinical and Translational Science Center, Department of Biostatistics and Epidemiology, Weill Cornell Medical College, New York, New York., Caputo TA; Division of Gynecologic Oncology, Department of Obstetrics and Gynecology, Weill Cornell Medical College, New York, New York., Chapman-Davis E; Division of Gynecologic Oncology, Department of Obstetrics and Gynecology, Weill Cornell Medical College, New York, New York., Holcomb K; Division of Gynecologic Oncology, Department of Obstetrics and Gynecology, Weill Cornell Medical College, New York, New York., Frey MK; Division of Gynecologic Oncology, Department of Obstetrics and Gynecology, Weill Cornell Medical College, New York, New York.

Publikováno v: Cancer [Cancer] 2019 Sep 15; Vol. 125 (18), pp. 3172-3183. Date of Electronic Publication: 2019 May 31.

Lynch syndrome-associated endometrial carcinoma with MLH1 germline mutation and MLH1 promoter hypermethylation: a case report and literature review.

Autor: Yokoyama T; Department of Gynecology, National Hospital Organization Shikoku Cancer Center, Minamiumemoto-cho, Matsuyama-city, Ehime Prefecture, 791-0280, Japan. tayokoyama@shikoku-cc.go.jp., Takehara K; Department of Gynecology, National Hospital Organization Shikoku Cancer Center, Minamiumemoto-cho, Matsuyama-city, Ehime Prefecture, 791-0280, Japan., Sugimoto N; Counseling Room of Familial Neoplasm, National Hospital Organization Shikoku Cancer center, Minamiumemoto-cho, Matsuyama-city, Ehime Prefecture, 791-0280, Japan., Kaneko K; Counseling Room of Familial Neoplasm, National Hospital Organization Shikoku Cancer center, Minamiumemoto-cho, Matsuyama-city, Ehime Prefecture, 791-0280, Japan., Fujimoto E; Department of Gynecology, National Hospital Organization Shikoku Cancer Center, Minamiumemoto-cho, Matsuyama-city, Ehime Prefecture, 791-0280, Japan., Okazawa-Sakai M; Department of Gynecology, National Hospital Organization Shikoku Cancer Center, Minamiumemoto-cho, Matsuyama-city, Ehime Prefecture, 791-0280, Japan., Okame S; Department of Gynecology, National Hospital Organization Shikoku Cancer Center, Minamiumemoto-cho, Matsuyama-city, Ehime Prefecture, 791-0280, Japan., Shiroyama Y; Department of Gynecology, National Hospital Organization Shikoku Cancer Center, Minamiumemoto-cho, Matsuyama-city, Ehime Prefecture, 791-0280, Japan., Yokoyama T; Department of Gynecology, National Hospital Organization Shikoku Cancer Center, Minamiumemoto-cho, Matsuyama-city, Ehime Prefecture, 791-0280, Japan., Teramoto N; Department of Pathology, National Hospital Organization Shikoku Cancer center, Minamiumemoto-cho, Matsuyama-city, Ehime Prefecture, 791-0280, Japan., Ohsumi S; Counseling Room of Familial Neoplasm, National Hospital Organization Shikoku Cancer center, Minamiumemoto-cho, Matsuyama-city, Ehime Prefecture, 791-0280, Japan., Saito S; Oncogene Research Unit/Cancer Prevention Unit, Tochigi Cancer Center Research Institute, Tochigi, Japan., Imai K; Oncogene Research Unit/Cancer Prevention Unit, Tochigi Cancer Center Research Institute, Tochigi, Japan., Sugano K; Oncogene Research Unit/Cancer Prevention Unit, Tochigi Cancer Center Research Institute, Tochigi, Japan.

Publikováno v: BMC cancer [BMC Cancer] 2018 May 21; Vol. 18 (1), pp. 576. Date of Electronic Publication: 2018 May 21.

In silico splicing analysis of the PMS2 gene: exploring alternative molecular mechanisms in PMS2-associated Lynch syndrome

Autor: Cătălin Vasile Munteanu, Cătălin Marian, Adela Chiriță-Emandi, Maria Puiu, Adrian Pavel Trifa

Publikováno v: BMC Genomic Data, Vol 25, Iss 1, Pp 1-14 (2024)

Abstract Lynch syndrome (LS) is one of the most common hereditary cancer syndrome in human populations, associated with germline variants in MLH1, MSH2/EPCAM, MSH6 and PMS2 genes. The advent of next generation sequencing has proven a significant impa

Externí odkaz: https://doaj.org/article/a6119d78d567491e88e8c7def5420876

Multi-disciplinary summit on genetics services for women with gynecologic cancers: A Society of Gynecologic Oncology White Paper.

Autor: Randall LM; University of California Irvine, Irvine, CA, United States. Electronic address: lrandall@uci.edu., Pothuri B; New York University Langone Medical Center, New York, NY, United States., Swisher EM; University of Washington, Seattle, WA, United States., Diaz JP; Miami Cancer Institute, Miami, FL, United States., Buchanan A; Geisinger Health System, Danville, PA, United States., Witkop CT; Uniformed Services University of the Health Sciences, Bethesda, MD, United States., Bethan Powell C; Northern California Kaiser Permanente Gynecologic Oncology, San Francisco, CA, United States., Smith EB; Texas Oncology, P.A., Austin, TX, United States., Robson ME; Memorial Sloan-Kettering Cancer Center, New York, NY, United States., Boyd J; Miami Cancer Institute, Miami, FL, United States; Florida International University, Miami, FL, United States., Coleman RL; University of Texas MD Anderson Cancer Center, Houston, TX, United States., Lu K; University of Texas MD Anderson Cancer Center, Houston, TX, United States.

Publikováno v: Gynecologic oncology [Gynecol Oncol] 2017 Aug; Vol. 146 (2), pp. 217-224. Date of Electronic Publication: 2017 Jun 07.