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Refinado por: assunto: Mutation remover
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11
Rare germline mutation and MSH2-&MSH6 + expression in a double primary carcinoma of colorectal carcinoma and endometrial carcinoma: a case report
Rare germline mutation and MSH2-&MSH6 + expression in a double primary carcinoma of colorectal carcinoma and endometrial carcinoma: a case report
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Rare germline mutation and MSH2-&MSH6 + expression in a double primary carcinoma of colorectal carcinoma and endometrial carcinoma: a case report

Zhang, Tiansong ; Huang, Xiaoqiang ; Liu, Wenjie ; Ling, Xiulan ; Su, Zhenping ; Huang, Mengwei ; Che, Shuanlong

Diagnostic pathology, 2024-01, Vol.19 (1), p.25-25, Article 25 [Periódico revisado por pares]

England: BioMed Central Ltd

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12
Association of a novel frameshift variant and a known deleterious variant in MMR genes with Lynch syndrome in Chinese families
Association of a novel frameshift variant and a known deleterious variant in MMR genes with Lynch syndrome in Chinese families
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Association of a novel frameshift variant and a known deleterious variant in MMR genes with Lynch syndrome in Chinese families

Li, Juyi ; Ni, Haichun ; Wang, Xiufang ; Cheng, Wenzhuo ; Li, Li ; Cheng, Yong ; Liu, Chao ; Li, Yuanyuan ; Deng, Aiping

World journal of surgical oncology, 2024-01, Vol.22 (1), p.36-36, Article 36 [Periódico revisado por pares]

England: BioMed Central Ltd

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13
Genotype–phenotype correlations in carriers of the PMS2 founder variant c.1831dup
Genotype–phenotype correlations in carriers of the PMS2 founder variant c.1831dup
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Genotype–phenotype correlations in carriers of the PMS2 founder variant c.1831dup

Gass, Melanie ; Seebauer, Britta ; Thommen, Aline ; Fischler, Alexandra ; Heinimann, Karl

Molecular genetics & genomic medicine, 2024-01, Vol.12 (1), p.e2360-n/a [Periódico revisado por pares]

United States: John Wiley & Sons, Inc

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14
New Insights into Lynch Syndrome: A Narrative Review
New Insights into Lynch Syndrome: A Narrative Review
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New Insights into Lynch Syndrome: A Narrative Review

Ene, Cosmin Victor ; Bulai, Ca Ta Lin Andrei ; Geavlete, Petrisor ; Popescu, Razvan Ionut ; Vacaroiu, Ileana Adela ; Georgescu, Dragoş Eugen ; Isaconi, Isabela Voichita ; Munteanu, Ma da Lina Andreea ; Ene, Corina Daniela ; Militaru, Adrian ; Geavlete, Bogdan ; Multescu, Razvan

Chirurgia (Bucharest, Romania : 1990), 2023-12, Vol.118 (6), p.584-595

Romania

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15
Gut microbial signatures are associated with Lynch syndrome (LS) and cancer history in Druze communities in Israel
Gut microbial signatures are associated with Lynch syndrome (LS) and cancer history in Druze communities in Israel
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Gut microbial signatures are associated with Lynch syndrome (LS) and cancer history in Druze communities in Israel

Naddaf, Rawi ; Carasso, Shaqed ; Reznick-Levi, Gili ; Hasnis, Erez ; Qarawani, Amalfi ; Maza, Itay ; Gefen, Tal ; Half, Elizabeth Emily ; Geva-Zatorsky, Naama

Scientific reports, 2023-11, Vol.13 (1), p.20677-20677, Article 20677 [Periódico revisado por pares]

England: Nature Publishing Group

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16
Gender-specific counselling of patients with upper tract urothelial carcinoma and Lynch syndrome
Gender-specific counselling of patients with upper tract urothelial carcinoma and Lynch syndrome
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Gender-specific counselling of patients with upper tract urothelial carcinoma and Lynch syndrome

Cerrato, Clara ; Pandolfo, Savio Domenico ; Autorino, Riccardo ; Panunzio, Andrea ; Tafuri, Alessandro ; Porcaro, Antonio Benito ; Veccia, Alessandro ; De Marco, Vincenzo ; Cerruto, Maria Angela ; Antonelli, Alessandro ; Derweesh, Ithaar H. ; Maresma, Maria Carmen Mir

World journal of urology, 2023-07, Vol.41 (7), p.1741-1749 [Periódico revisado por pares]

Berlin/Heidelberg: Springer Berlin Heidelberg

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17
A PMS2 non-canonical splicing site variant leads to aberrant splicing in a patient suspected for lynch syndrome
A PMS2 non-canonical splicing site variant leads to aberrant splicing in a patient suspected for lynch syndrome
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A PMS2 non-canonical splicing site variant leads to aberrant splicing in a patient suspected for lynch syndrome

Bouras, Ahmed ; Naibo, Pierre ; Legrand, Clémentine ; Marc’hadour, François Le ; Ruano, Eric ; Grand-Masson, Chloé ; Lefol, Cedrick ; Wang, Qing

Familial cancer, 2023-07, Vol.22 (3), p.303-306 [Periódico revisado por pares]

Dordrecht: Springer Netherlands

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18
A “Two-in-One Hit” Model of Shortcut Carcinogenesis in MLH1 Lynch Syndrome Carriers
A “Two-in-One Hit” Model of Shortcut Carcinogenesis in MLH1 Lynch Syndrome Carriers
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A “Two-in-One Hit” Model of Shortcut Carcinogenesis in MLH1 Lynch Syndrome Carriers

Ahadova, Aysel ; Stenzinger, Albrecht ; Seppälä, Toni ; Hüneburg, Robert ; Kloor, Matthias ; Bläker, Hendrik ; Wittemann, Jan-Niklas ; Endris, Volker ; Gerling, Leonie ; Bertram, Veit ; Neumuth, Marie Theres ; Witt, Johannes ; Graf, Sebastian ; Kristiansen, Glen ; Hommerding, Oliver ; Haupt, Saskia ; Zeilmann, Alexander ; Heuveline, Vincent ; Kazdal, Daniel ; Gebert, Johannes ; von Knebel Doeberitz, Magnus ; Mecklin, Jukka-Pekka ; Nattermann, Jacob

Gastroenterology (New York, N.Y. 1943), 2023-07, Vol.165 (1), p.267-270.e4 [Periódico revisado por pares]

United States: Elsevier Inc

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19
Identifying primary and secondary MLH1 epimutation carriers displaying low-level constitutional MLH1 methylation using droplet digital PCR and genome-wide DNA methylation profiling of colorectal cancers
Identifying primary and secondary MLH1 epimutation carriers displaying low-level constitutional MLH1 methylation using droplet digital PCR and genome-wide DNA methylation profiling of colorectal cancers
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Identifying primary and secondary MLH1 epimutation carriers displaying low-level constitutional MLH1 methylation using droplet digital PCR and genome-wide DNA methylation profiling of colorectal cancers

Joo, Jihoon E ; Mahmood, Khalid ; Walker, Romy ; Georgeson, Peter ; Candiloro, Ida ; Clendenning, Mark ; Como, Julia ; Joseland, Sharelle ; Preston, Susan ; Graversen, Lise ; Wilding, Mathilda ; Field, Michael ; Lemon, Michelle ; Wakeling, Janette ; Marfan, Helen ; Susman, Rachel ; Isbister, Joanne ; Edwards, Emma ; Bowman, Michelle ; Kirk, Judy ; Ip, Emilia ; McKay, Lynne ; Antill, Yoland ; Hopper, John L ; Boussioutas, Alex ; Macrae, Finlay A ; Dobrovic, Alexander ; Jenkins, Mark A ; Rosty, Christophe ; Winship, Ingrid M ; Buchanan, Daniel D

Clinical epigenetics, 2023-06, Vol.15 (1), p.95-95, Article 95 [Periódico revisado por pares]

Germany: BioMed Central Ltd

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20
Systems approach to enhance Lynch syndrome diagnosis through tumour testing
Systems approach to enhance Lynch syndrome diagnosis through tumour testing
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Systems approach to enhance Lynch syndrome diagnosis through tumour testing

Singh, Vinit ; Mezzacappa, Catherine ; Gershkovich, Peter ; Di Giovanna, Jessica ; Ganzak, Amanda ; Gibson, Joanna ; Sinard, John ; Xicola, Rosa M ; Llor, Xavier

Journal of medical genetics, 2023-06, Vol.60 (6), p.533-539 [Periódico revisado por pares]

England: BMJ Publishing Group Ltd

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