Publications:

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Adolescent triple-negative breast cancer with germline pathogenic variants in both BRCA1 and TP53 genes: A case report.

Frontiers In Oncology

Chen, Dongmei D; Zhang, Chenyang C; Yuan, Mengqi M; Zhang, Ying Y; Liu, Qing Q; Wan, Donggui D

Publication Date: 2022

Variant appearance in text: CDH1: 2076T>C; Ala692Ala

PubMed Link: 36518309

Variant Present in the following documents:

• Table_1.xlsx, sheet 1

View BVdb publication page

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Establishment and characterization of a new mantle cell lymphoma cell line with a NOTCH2 mutation, Arbo.

Ejhaem

Safa, Firas F; Rasmussen, Terri T; Lobelle-Rich, Patricia P; Collier, Stephanie S; Milligan, Nicholas N; Schmeig, John J; Schmid, Janet J; Wiewiorowski, Carol C; Totaro, Denise D; Brown, Theresa C TC; Satyavarapu, Ishwarya I; Badoo, Melody M; Ungerleider, Nathan N; Flemington, Erik K EK; Safah, Hana H; Saba, Nakhle S NS

Publication Date: 2022-11

Variant appearance in text: rs1801552

PubMed Link: 36467812

Variant Present in the following documents:

• JHA2-3-1326-s001.xlsx, sheet 1

View BVdb publication page

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Decellularized extracellular matrix as scaffold for cancer organoid cultures of colorectal peritoneal metastases.

Journal Of Molecular Cell Biology

Varinelli, Luca L; Guaglio, Marcello M; Brich, Silvia S; Zanutto, Susanna S; Belfiore, Antonino A; Zanardi, Federica F; Iannelli, Fabio F; Oldani, Amanda A; Costa, Elisa E; Chighizola, Matteo M; Lorenc, Ewelina E; Minardi, Simone P SP; Fortuzzi, Stefano S; Filugelli, Martina M; Garzone, Giovanna G; Pisati, Federica F; Vecchi, Manuela M; Pruneri, Giancarlo G; Kusamura, Shigeki S; Baratti, Dario D; Cattaneo, Laura L; Parazzoli, Dario D; Podestà, Alessandro A; Milione, Massimo M; Deraco, Marcello M; Pierotti, Marco A MA; Gariboldi, Manuela M

Publication Date: 2022-12-02

Variant appearance in text: CDH1: A692A

PubMed Link: 36460033

Variant Present in the following documents:

• mjac064_supplemental_file.pdf

View BVdb publication page

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Beneficial effects of mifepristone treatment in breast cancer patients selected by the progesterone receptor isoform ratio: Results from the MIPRA trial.

Clinical Cancer Research : An Official Journal Of The American Association For Cancer Research

Elía, Andrés A; Saldain, Leo L; Vanzulli, Silvia I SI; Helguero, Luisa A LA; Lamb, Caroline A CA; Fabris, Victoria V; Pataccini, Gabriela G; Martínez-Vazquez, Paula P; Burruchaga, Javier J; Caillet-Bois, Ines I; Spengler, Eunice E; Acosta Haab, Gabriela G; Liguori, Marcos M; Castets, Alejandra A; Lovisi, Silvia S; Abascal, María F MF; Novaro, Virginia V; Sánchez, Jana J; Muñoz, Javier J; Belizán, Jose M JM; Abba, Martín C MC; Gass, Hugo H; Rojas, Paola P; Lanari, Claudia C

Publication Date: 2022-10-21

Variant appearance in text: N/A

PubMed Link: 36269797

Variant Present in the following documents:

View BVdb publication page

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Next-generation whole exome sequencing to delineate the genetic basis of primary congenital glaucoma.

Scientific Reports

Rauf, Bushra B; Khan, Shahid Y SY; Jiao, Xiaodong X; Irum, Bushra B; Ashfaq, Ramla R; Zehra, Mubashra M; Khan, Asma A AA; Naeem, Muhammad Asif MA; Shahzad, Mohsin M; Riazuddin, Sheikh S; Hejtmancik, J Fielding JF; Riazuddin, S Amer SA

Publication Date: 2022-10-14

Variant appearance in text: CDH1: A692A

PubMed Link: 36241656

Variant Present in the following documents:

• 41598_2022_20939_MOESM10_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM11_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM2_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM9_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM6_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM15_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM3_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM14_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM5_ESM.xlsx, sheet 2

View BVdb publication page

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A genomic deletion encompassing CRYBB2-CRYBB2P1 is responsible for autosomal recessive congenital cataracts.

Human Genome Variation

Irum, Bushra B; Kabir, Firoz F; Shoshany, Nadav N; Khan, Shahid Y SY; Rauf, Bushra B; Naeem, Muhammad Asif MA; Qaiser, Tanveer A TA; Riazuddin, Sheikh S; Hejtmancik, J Fielding JF; Riazuddin, S Amer SA

Publication Date: 2022-09-08

Variant appearance in text: CDH1: A692A

PubMed Link: 36075891

Variant Present in the following documents:

• 41439_2022_208_MOESM4_ESM.xlsx, sheet 2
• 41439_2022_208_MOESM3_ESM.xlsx, sheet 2
• 41439_2022_208_MOESM5_ESM.xlsx, sheet 2

View BVdb publication page

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Case Report: Primary Leptomeningeal Medulloblastoma in a Child: Clinical Case Report and Literature Review.

Frontiers In Pediatrics

Morgacheva, Daria D; Daks, Alexandra A; Smirnova, Anna A; Kim, Aleksandr A; Ryzhkova, Daria D; Mitrofanova, Lubov L; Staliarova, Alena A; Omelina, Evgeniya E; Pindyurin, Alexey A; Fedorova, Olga O; Shuvalov, Oleg O; Petukhov, Alexey A; Dinikina, Yulia Y

Publication Date: 2022

Variant appearance in text: N/A

PubMed Link: 35899134

Variant Present in the following documents:

View BVdb publication page

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HER2-CDH1 Interaction via Wnt/B-Catenin Is Associated with Patients' Survival in HER2-Positive Metastatic Gastric Adenocarcinoma.

Cancers

De Re, Valli V; Alessandrini, Lara L; Brisotto, Giulia G; Caggiari, Laura L; De Zorzi, Mariangela M; Casarotto, Mariateresa M; Miolo, Gianmaria G; Puglisi, Fabio F; Garattini, Silvio Ken SK; Lonardi, Sara S; Cannizzaro, Renato R; Canzonieri, Vincenzo V; Fassan, Matteo M; Steffan, Agostino A

Publication Date: 2022-02-28

Variant appearance in text: rs1801552

PubMed Link: 35267574

Variant Present in the following documents:

• Main text
• cancers-14-01266.pdf

View BVdb publication page

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Response prediction in patients with gastric and esophagogastric adenocarcinoma under neoadjuvant chemotherapy using targeted gene expression analysis and next-generation sequencing in pre-therapeutic biopsies.

Journal Of Cancer Research And Clinical Oncology

Kleo, Karsten K; Jovanovic, Vladimir M VM; Arndold, Alexander A; Lehmann, Annika A; Lammert, Hedwig H; Berg, Erika E; Harloff, Hannah H; Treese, Christoph C; Hummel, Michael M; Daum, Severin S

Publication Date: 2022-03-05

Variant appearance in text: CDH1: 2076T>C; rs1801552

PubMed Link: 35246724

Variant Present in the following documents:

• 432_2022_3944_MOESM1_ESM.xlsx, sheet 1

View BVdb publication page

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Association between germline pathogenic variants and breast cancer risk in Japanese women: The HERPACC study.

Cancer Science

Kasugai, Yumiko Y; Kohmoto, Tomohiro T; Taniyama, Yukari Y; Koyanagi, Yuriko N YN; Usui, Yoshiaki Y; Iwase, Madoka M; Oze, Isao I; Yamaguchi, Rui R; Ito, Hidemi H; Imoto, Issei I; Matsuo, Keitaro K

Publication Date: 2022-04

Variant appearance in text: rs1801552

PubMed Link: 35218119

Variant Present in the following documents:

• CAS-113-1451-s002.xlsx, sheet 1

View BVdb publication page

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MicroSEC filters sequence errors for formalin-fixed and paraffin-embedded samples.

Communications Biology

Ikegami, Masachika M; Kohsaka, Shinji S; Hirose, Takeshi T; Ueno, Toshihide T; Inoue, Satoshi S; Kanomata, Naoki N; Yamauchi, Hideko H; Mori, Taisuke T; Sekine, Shigeki S; Inamoto, Yoshihiro Y; Yatabe, Yasushi Y; Kobayashi, Hiroshi H; Tanaka, Sakae S; Mano, Hiroyuki H

Publication Date: 2021-12-15

Variant appearance in text: CDH1: 2076T>C; Ala692Ala

PubMed Link: 34912045

Variant Present in the following documents:

• 42003_2021_2930_MOESM4_ESM.xlsx, sheet 2

View BVdb publication page

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MicroSEC filters sequence errors for formalin-fixed and paraffin-embedded samples.

Communications Biology

Ikegami, Masachika M; Kohsaka, Shinji S; Hirose, Takeshi T; Ueno, Toshihide T; Inoue, Satoshi S; Kanomata, Naoki N; Yamauchi, Hideko H; Mori, Taisuke T; Sekine, Shigeki S; Inamoto, Yoshihiro Y; Yatabe, Yasushi Y; Kobayashi, Hiroshi H; Tanaka, Sakae S; Mano, Hiroyuki H

Publication Date: 2021-12-15

Variant appearance in text: CDH1: 2076T>C; Ala692Ala

PubMed Link: 34912045

Variant Present in the following documents:

• 42003_2021_2930_MOESM4_ESM.xlsx, sheet 2

View BVdb publication page

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The CDH1 c.1901C>T Variant: A Founder Variant in the Portuguese Population with Severe Impact in mRNA Splicing.

Cancers

Barbosa-Matos, Rita R; Leal Silva, Rafaela R; Garrido, Luzia L; Aguiar, Ana Cerqueira AC; Garcia-Pelaez, José J; André, Ana A; Seixas, Susana S; Sousa, Sónia Passos SP; Ferro, Luísa L; Vilarinho, Lúcia L; Gullo, Irene I; Devezas, Vitor V; Oliveira, Renata R; Fernandes, Susana S; Costa, Susy Cabral SC; Magalhães, André A; Baptista, Manuela M; Carneiro, Fátima F; Pinheiro, Hugo H; Castedo, Sérgio S; Oliveira, Carla C

Publication Date: 2021-09-04

Variant appearance in text: rs1801552

PubMed Link: 34503274

Variant Present in the following documents:

• Main text
• cancers-13-04464.pdf

View BVdb publication page

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Case Report: A Variant Non-ketotic Hyperglycinemia With GLRX5 Mutations: Manifestation of Deficiency of Activities of the Respiratory Chain Enzymes.

Frontiers In Genetics

Feng, Wei-Xing WX; Zhuo, Xiu-Wei XW; Liu, Zhi-Mei ZM; Li, Jiu-Wei JW; Zhang, Wei-Hua WH; Wu, Yun Y; Han, Tong-Li TL; Fang, Fang F

Publication Date: 2021

Variant appearance in text: N/A

PubMed Link: 34054912

Variant Present in the following documents:

View BVdb publication page

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Disseminated Talaromyces marneffei Infection in a Non-HIV Infant With a Homozygous Private Variant of RELB.

Frontiers In Cellular And Infection Microbiology

Ding, Xiaofang X; Huang, Han H; Zhong, Lili L; Chen, Min M; Peng, Fang F; Zhang, Bing B; Cui, Xinyu X; Yang, Xiu-An XA

Publication Date: 2021

Variant appearance in text: N/A

PubMed Link: 33791233

Variant Present in the following documents:

View BVdb publication page

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Prevalence of germline pathogenic variants in 22 cancer susceptibility genes in Swedish pediatric cancer patients.

Scientific Reports

von Stedingk, Kristoffer K; Stjernfelt, Karl-Johan KJ; Kvist, Anders A; Wahlström, Cecilia C; Kristoffersson, Ulf U; Stenmark-Askmalm, Marie M; Wiebe, Thomas T; Hjorth, Lars L; Koster, Jan J; Olsson, Håkan H; Øra, Ingrid I

Publication Date: 2021-03-05

Variant appearance in text: N/A

PubMed Link: 33674644

Variant Present in the following documents:

View BVdb publication page

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Integrated genetic and metabolic landscapes predict vulnerabilities of temozolomide resistant glioblastoma cells.

Npj Systems Biology And Applications

Immanuel, Selva Rupa Christinal SRC; Ghanate, Avinash D AD; Parmar, Dharmeshkumar S DS; Yadav, Ritu R; Uthup, Riya R; Panchagnula, Venkateswarlu V; Raghunathan, Anu A

Publication Date: 2021-01-08

Variant appearance in text: N/A

PubMed Link: 33420045

Variant Present in the following documents:

View BVdb publication page

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Non-syndromic Cleft Palate: An Overview on Human Genetic and Environmental Risk Factors.

Frontiers In Cell And Developmental Biology

Martinelli, Marcella M; Palmieri, Annalisa A; Carinci, Francesco F; Scapoli, Luca L

Publication Date: 2020

Variant appearance in text: rs1801552

PubMed Link: 33195260

Variant Present in the following documents:

• Main text
• fcell-08-592271.pdf

View BVdb publication page

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A deep analysis using panel-based next-generation sequencing in an Ecuadorian pediatric patient with anaplastic astrocytoma: a case report.

Journal Of Medical Case Reports

García-Cárdenas, Jennyfer M JM; Zambrano, Ana Karina AK; Guevara-Ramírez, Patricia P; Guerrero, Santiago S; Runruil, Gabriel G; López-Cortés, Andrés A; Torres-Yaguana, Jorge P JP; Armendáriz-Castillo, Isaac I; Pérez-Villa, Andy A; Yumiceba, Verónica V; Leone, Paola E PE; Paz-Y-Miño, César C

Publication Date: 2020-08-31

Variant appearance in text: CDH1: 2076T>C; Ala692=

PubMed Link: 32867815

Variant Present in the following documents:

• 13256_2020_2451_MOESM1_ESM.xlsx, sheet 1

View BVdb publication page

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High-Throughput Sequencing of Gastric Cancer Patients: Unravelling Genetic Predispositions Towards an Early-Onset Subtype.

Cancers

Machlowska, Julita J; Kapusta, Przemysław P; Baj, Jacek J; Morsink, Folkert H M FHM; Wołkow, Paweł P; Maciejewski, Ryszard R; Offerhaus, G Johan A GJA; Sitarz, Robert R

Publication Date: 2020-07-21

Variant appearance in text: rs1801552

PubMed Link: 32708070

Variant Present in the following documents:

• Main text
• cancers-12-01981-s001.pdf
• cancers-12-01981.pdf

View BVdb publication page

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Multi-level evidence of an allelic hierarchy of USH2A variants in hearing, auditory processing and speech/language outcomes.

Communications Biology

Perrino, Peter A PA; Talbot, Lidiya L; Kirkland, Rose R; Hill, Amanda A; Rendall, Amanda R AR; Mountford, Hayley S HS; Taylor, Jenny J; , ; Buscarello, Alexzandrea N AN; Lahiri, Nayana N; Saggar, Anand A; Fitch, R Holly RH; Newbury, Dianne F DF

Publication Date: 2020-04-20

Variant appearance in text: rs1801552

PubMed Link: 32313182

Variant Present in the following documents:

• 42003_2020_885_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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Mutational landscape and genetic signatures of cell-free DNA in tumour-induced osteomalacia.

Journal Of Cellular And Molecular Medicine

Wu, Nan N; Zhang, Zhen Z; Zhou, Xi X; Zhao, Hengqiang H; Ming, Yue Y; Wu, Xue X; Zhang, Xian X; Yang, Xin-Zhuang XZ; Zhou, Meng M; Bao, Hua H; Chen, Weisheng W; Wu, Yong Y; Liu, Sen S; Wang, Huizi H; Niu, Yuchen Y; Li, Yalun Y; Zheng, Yu Y; Shao, Yang Y; Gao, Na N; Yang, Ying Y; Liu, Ying Y; Li, Wenli W; Liu, Jia J; Zhang, Na N; Yang, Xu X; Xu, Yuan Y; Li, Mei M; Sun, Yingli Y; Su, Jianzhong J; Zhang, Jianguo J; Xia, Weibo W; Qiu, Guixing G; Liu, Yong Y; Liu, Jiaqi J; Wu, Zhihong Z

Publication Date: 2020-05

Variant appearance in text: CDH1: 2076T>C; Ala692=

PubMed Link: 32277576

Variant Present in the following documents:

• JCMM-24-4931-s010.xlsx, sheet 1

View BVdb publication page

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PGG.SNV: understanding the evolutionary and medical implications of human single nucleotide variations in diverse populations.

Genome Biology

Zhang, Chao C; Gao, Yang Y; Ning, Zhilin Z; Lu, Yan Y; Zhang, Xiaoxi X; Liu, Jiaojiao J; Xie, Bo B; Xue, Zhe Z; Wang, Xiaoji X; Yuan, Kai K; Ge, Xueling X; Pan, Yuwen Y; Liu, Chang C; Tian, Lei L; Wang, Yuchen Y; Lu, Dongsheng D; Hoh, Boon-Peng BP; Xu, Shuhua S

Publication Date: 2019-10-22

Variant appearance in text: N/A

PubMed Link: 31640808

Variant Present in the following documents:

View BVdb publication page

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Plasmacytoid urothelial carcinoma: a rapid autopsy case report with unique clinicopathologic and genomic profile.

Diagnostic Pathology

Simon, Caroline T CT; Skala, Stephanie L SL; Killen, Paul D PD; Siddiqui, Javed J; Cao, Xuhong X; Qiao, Yuanyuan Y; Al-Ahmadie, Hikmat H; Camelo-Piragua, Sandra I SI; Jentzen, Jeffrey J; Chinnaiyan, Arul M AM; Dhanasekaran, Saravana M SM; Reichert, Zachery R ZR; Mehra, Rohit R

Publication Date: 2019-10-21

Variant appearance in text: rs1801552

PubMed Link: 31638990

Variant Present in the following documents:

• Main text

View BVdb publication page

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Identification of c.1531C>T Pathogenic Variant in the CDH1 Gene as a Novel Germline Mutation of Hereditary Diffuse Gastric Cancer.

International Journal Of Molecular Sciences

Norero, Enrique E; Alarcon, M Alejandra MA; Hakkaart, Christopher C; de Mayo, Tomas T; Mellado, Cecilia C; Garrido, Marcelo M; Aguayo, Gloria G; Lagos, Marcela M; Torres, Javiera J; Calvo, Alfonso A; Guilford, Parry P; Corvalan, Alejandro H AH

Publication Date: 2019-10-09

Variant appearance in text: N/A

PubMed Link: 31600923

Variant Present in the following documents:

View BVdb publication page

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Distinctive mutational spectrum and karyotype disruption in long-term cisplatin-treated urothelial carcinoma cell lines.

Scientific Reports

Skowron, Margaretha A MA; Petzsch, Patrick P; Hardt, Karin K; Wagner, Nicholas N; Beier, Manfred M; Stepanow, Stefanie S; Drechsler, Matthias M; Rieder, Harald H; Köhrer, Karl K; Niegisch, Günter G; Hoffmann, Michèle J MJ; Schulz, Wolfgang A WA

Publication Date: 2019-10-09

Variant appearance in text: N/A

PubMed Link: 31597922

Variant Present in the following documents:

View BVdb publication page

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Intraventricular meningiomas frequently harbor NF2 mutations but lack common genetic alterations in TRAF7, AKT1, SMO, KLF4, PIK3CA, and TERT.

Acta Neuropathologica Communications

Jungwirth, Gerhard G; Warta, Rolf R; Beynon, Christopher C; Sahm, Felix F; von Deimling, Andreas A; Unterberg, Andreas A; Herold-Mende, Christel C; Jungk, Christine C

Publication Date: 2019-08-30

Variant appearance in text: N/A

PubMed Link: 31470906

Variant Present in the following documents:

View BVdb publication page

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MicroRNA-374a, -4680, and -133b suppress cell proliferation through the regulation of genes associated with human cleft palate in cultured human palate cells.

Bmc Medical Genomics

Suzuki, Akiko A; Li, Aimin A; Gajera, Mona M; Abdallah, Nada N; Zhang, Musi M; Zhao, Zhongming Z; Iwata, Junichi J

Publication Date: 2019-07-01

Variant appearance in text: rs1801552

PubMed Link: 31262291

Variant Present in the following documents:

• 12920_2019_546_MOESM3_ESM.xlsx, sheet 1

View BVdb publication page

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A pan-cancer analysis of synonymous mutations.

Nature Communications

Sharma, Yogita Y; Miladi, Milad M; Dukare, Sandeep S; Boulay, Karine K; Caudron-Herger, Maiwen M; Groß, Matthias M; Backofen, Rolf R; Diederichs, Sven S

Publication Date: 2019-06-12

Variant appearance in text: CDH1: 2076T>C

PubMed Link: 31189880

Variant Present in the following documents:

• 41467_2019_10489_MOESM5_ESM.xlsx, sheet 1
• 41467_2019_10489_MOESM7_ESM.xlsx, sheet 1

View BVdb publication page

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Frequency of CDH1 germline variants and contribution of dietary habits in early age onset gastric cancer patients in Brazil.

Gastric Cancer : Official Journal Of The International Gastric Cancer Association And The Japanese Gastric Cancer Association

Guindalini, Rodrigo Santa Cruz RSC; Cormedi, Marina Cândido Visontai MCV; Maistro, Simone S; Pasini, Fátima Solange FS; Branas, Priscila Cristina Abduch Adas PCAA; Dos Santos, Liliane L; de Lima Pereira, Gláucia Fernanda GF; de Bock, Geertruida Hendrika GH; Saccaro, Daniela Marques DM; Katayama, Maria Lucia Hirata MLH; Faraj, Sheila Friedrich SF; Safatle-Ribeiro, Adriana A; Ribeiro Junior, Ulysses U; Diz, Maria Del Pilar Estevez MDPE; de Gouvêa, Ana Carolina Ribeiro Chaves ACRC; Chammas, Roger R; Folgueira, Maria Aparecida Azevedo Koike MAAK

Publication Date: 2019-09

Variant appearance in text: N/A

PubMed Link: 30895400

Variant Present in the following documents:

View BVdb publication page

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Frequency of CDH1 germline variants and contribution of dietary habits in early age onset gastric cancer patients in Brazil.

Gastric Cancer : Official Journal Of The International Gastric Cancer Association And The Japanese Gastric Cancer Association

Guindalini, Rodrigo Santa Cruz RSC; Cormedi, Marina Cândido Visontai MCV; Maistro, Simone S; Pasini, Fátima Solange FS; Branas, Priscila Cristina Abduch Adas PCAA; Dos Santos, Liliane L; de Lima Pereira, Gláucia Fernanda GF; de Bock, Geertruida Hendrika GH; Saccaro, Daniela Marques DM; Katayama, Maria Lucia Hirata MLH; Faraj, Sheila Friedrich SF; Safatle-Ribeiro, Adriana A; Ribeiro Junior, Ulysses U; Diz, Maria Del Pilar Estevez MDPE; de Gouvêa, Ana Carolina Ribeiro Chaves ACRC; Chammas, Roger R; Folgueira, Maria Aparecida Azevedo Koike MAAK

Publication Date: 2019-09

Variant appearance in text: N/A

PubMed Link: 30895400

Variant Present in the following documents:

View BVdb publication page

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Organoids as a new model for improving regenerative medicine and cancer personalized therapy in renal diseases.

Cell Death & Disease

Grassi, Ludovica L; Alfonsi, Romina R; Francescangeli, Federica F; Signore, Michele M; De Angelis, Maria Laura ML; Addario, Antonio A; Costantini, Manuela M; Flex, Elisabetta E; Ciolfi, Andrea A; Pizzi, Simone S; Bruselles, Alessandro A; Pallocca, Matteo M; Simone, Giuseppe G; Haoui, Mustapha M; Falchi, Mario M; Milella, Michele M; Sentinelli, Steno S; Di Matteo, Paola P; Stellacci, Emilia E; Gallucci, Michele M; Muto, Giovanni G; Tartaglia, Marco M; De Maria, Ruggero R; Bonci, Désirée D

Publication Date: 2019-02-27

Variant appearance in text: rs1801552

PubMed Link: 30814510

Variant Present in the following documents:

• 41419_2019_1453_MOESM27_ESM.xlsx, sheet 3
• 41419_2019_1453_MOESM27_ESM.xlsx, sheet 1
• 41419_2019_1453_MOESM27_ESM.xlsx, sheet 2

View BVdb publication page

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Familial multifocal micronodular pneumocyte hyperplasia with a novel splicing mutation in TSC1: Three cases in one family.

Plos One

Shoji, Tetsuaki T; Konno, Satoshi S; Niida, Yo Y; Ogi, Takahiro T; Suzuki, Masaru M; Shimizu, Kaoruko K; Hida, Yasuhiro Y; Kaga, Kichizo K; Seyama, Kuniaki K; Naka, Tomoaki T; Matsuno, Yoshihiro Y; Nishimura, Masaharu M

Publication Date: 2019

Variant appearance in text: CDH1: 2076T>C; Ala692Ala

PubMed Link: 30794603

Variant Present in the following documents:

• pone.0212370.s008.xlsx, sheet 1

View BVdb publication page

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CDH1 somatic alterations in Mexican patients with diffuse and mixed sporadic gastric cancer.

Bmc Cancer

Bustos-Carpinteyro, Andrea Rebeca AR; Oliveira, Carla C; Sousa, Abel A; Oliveira, Patricia P; Pinheiro, Hugo H; Carvalho, Joana J; Magaña-Torres, María Teresa MT; Flores-Miramontes, María Guadalupe MG; Aguilar-Lemarroy, Adriana A; Jave-Suárez, Luis Felipe LF; Peregrina-Sandoval, Jorge J; Cruz-Ramos, José Alfonso JA; Sánchez-López, Josefina Yoaly JY

Publication Date: 2019-01-14

Variant appearance in text: rs1801552

PubMed Link: 30642281

Variant Present in the following documents:

• Main text

View BVdb publication page

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High Frequency of ERBB2 Activating Mutations in Invasive Lobular Breast Carcinoma with Pleomorphic Features.

Cancers

Rosa-Rosa, Juan Manuel JM; Caniego-Casas, Tamara T; Leskela, Susanna S; Cristobal, Eva E; González-Martínez, Silvia S; Moreno-Moreno, Esther E; López-Miranda, Elena E; Holgado, Esther E; Pérez-Mies, Belén B; Garrido, Pilar P; Palacios, José J

Publication Date: 2019-01-11

Variant appearance in text: rs1801552

PubMed Link: 30641862

Variant Present in the following documents:

• Main text
• cancers-11-00074.pdf

View BVdb publication page

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Multiple genetic mutations caused by NKX6.3 depletion contribute to gastric tumorigenesis.

Scientific Reports

Yoon, Jung Hwan JH; Kim, Olga O; Eun, Jung Woo JW; Choi, Sung Sook SS; Ashktorab, Hassan H; Smoot, Duane T DT; Nam, Suk Woo SW; Park, Won Sang WS

Publication Date: 2018-12-04

Variant appearance in text: rs1801552

PubMed Link: 30514953

Variant Present in the following documents:

• 41598_2018_35733_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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Identification of novel compound heterozygous SPG7 mutations-related hereditary spastic paraplegia in a Chinese family: a case report.

Bmc Neurology

Zhang, Xiaoqian X; Zhang, Lei L; Wu, Yanqing Y; Li, Gang G; Chen, Shengcai S; Xia, Yuanpeng Y; Li, Hongge H

Publication Date: 2018-11-29

Variant appearance in text: rs1801552

PubMed Link: 30497413

Variant Present in the following documents:

• 12883_2018_1199_MOESM5_ESM.xlsx, sheet 1

View BVdb publication page

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Genetic Evidence Supporting the Role of the Calcium Channel, CACNA1S, in Tooth Cusp and Root Patterning.

Frontiers In Physiology

Laugel-Haushalter, Virginie V; Morkmued, Supawich S; Stoetzel, Corinne C; Geoffroy, Véronique V; Muller, Jean J; Boland, Anne A; Deleuze, Jean-François JF; Chennen, Kirsley K; Pitiphat, Waranuch W; Dollfus, Hélène H; Niederreither, Karen K; Bloch-Zupan, Agnès A; Pungchanchaikul, Patimaporn P

Publication Date: 2018

Variant appearance in text: CDH1: 2076T>C; rs1801552

PubMed Link: 30319441

Variant Present in the following documents:

• Table_6.xlsx, sheet 1
• Table_5.xlsx, sheet 1
• Table_7.xlsx, sheet 1

View BVdb publication page

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Germline pathogenic variants of 11 breast cancer genes in 7,051 Japanese patients and 11,241 controls.

Nature Communications

Momozawa, Yukihide Y; Iwasaki, Yusuke Y; Parsons, Michael T MT; Kamatani, Yoichiro Y; Takahashi, Atsushi A; Tamura, Chieko C; Katagiri, Toyomasa T; Yoshida, Teruhiko T; Nakamura, Seigo S; Sugano, Kokichi K; Miki, Yoshio Y; Hirata, Makoto M; Matsuda, Koichi K; Spurdle, Amanda B AB; Kubo, Michiaki M

Publication Date: 2018-10-04

Variant appearance in text: N/A

PubMed Link: 30287823

Variant Present in the following documents:

View BVdb publication page

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Diffuse Gastric Cancer: A Summary of Analogous Contributing Factors for Its Molecular Pathogenicity.

International Journal Of Molecular Sciences

Ansari, Shamshul S; Gantuya, Boldbaatar B; Tuan, Vo Phuoc VP; Yamaoka, Yoshio Y

Publication Date: 2018-08-16

Variant appearance in text: CDH1: 2076T>C

PubMed Link: 30115886

Variant Present in the following documents:

• Main text
• ijms-19-02424.pdf

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A likely pathogenic variant putatively affecting splicing of PIGA identified in a multiple congenital anomalies hypotonia-seizures syndrome 2 (MCAHS2) family pedigree via whole-exome sequencing.

Molecular Genetics & Genomic Medicine

Yang, Junli J; Wang, Qiong Q; Zhuo, Qingcui Q; Tian, Huiling H; Li, Wen W; Luo, Fang F; Zhang, Jinghui J; Bi, Dan D; Peng, Jing J; Zhou, Dong D; Xin, Huawei H

Publication Date: 2018-09

Variant appearance in text: N/A

PubMed Link: 29974678

Variant Present in the following documents:

View BVdb publication page

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A Chinese family affected by lynch syndrome caused by MLH1 mutation.

Bmc Medical Genetics

Jia, Shuqin S; Zhang, Meng M; Sun, Yu Y; Yan, Hai H; Zhao, Fangping F; Li, Ziyu Z; Ji, Jiafu J

Publication Date: 2018-06-22

Variant appearance in text: rs1801552

PubMed Link: 29929473

Variant Present in the following documents:

• 12881_2018_605_MOESM2_ESM.xlsx, sheet 1
• 12881_2018_605_MOESM2_ESM.xlsx, sheet 2

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Germline mutation in the TP53 gene in uveal melanoma.

Scientific Reports

Hajkova, Nikola N; Hojny, Jan J; Nemejcova, Kristyna K; Dundr, Pavel P; Ulrych, Jan J; Jirsova, Katerina K; Glezgova, Johana J; Ticha, Ivana I

Publication Date: 2018-05-16

Variant appearance in text: N/A

PubMed Link: 29769598

Variant Present in the following documents:

View BVdb publication page

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TumorNext-Lynch-MMR: a comprehensive next generation sequencing assay for the detection of germline and somatic mutations in genes associated with mismatch repair deficiency and Lynch syndrome.

Oncotarget

Gray, Phillip N PN; Tsai, Pei P; Chen, Daniel D; Wu, Sitao S; Hoo, Jayne J; Mu, Wenbo W; Li, Bing B; Vuong, Huy H; Lu, Hsiao-Mei HM; Batth, Navanjot N; Willett, Sara S; Uyeda, Lisa L; Shah, Swati S; Gau, Chia-Ling CL; Umali, Monalyn M; Espenschied, Carin C; Janicek, Mike M; Brown, Sandra S; Margileth, David D; Dobrea, Lavinia L; Wagman, Lawrence L; Rana, Huma H; Hall, Michael J MJ; Ross, Theodora T; Terdiman, Jonathan J; Cullinane, Carey C; Ries, Savita S; Totten, Ellen E; Elliott, Aaron M AM

Publication Date: 2018-04-17

Variant appearance in text: CDH1: 2076T>C; A692A

PubMed Link: 29755653

Variant Present in the following documents:

• oncotarget-09-20304-s001.pdf

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Validation of CZECANCA (CZEch CAncer paNel for Clinical Application) for targeted NGS-based analysis of hereditary cancer syndromes.

Plos One

Soukupova, Jana J; Zemankova, Petra P; Lhotova, Klara K; Janatova, Marketa M; Borecka, Marianna M; Stolarova, Lenka L; Lhota, Filip F; Foretova, Lenka L; Machackova, Eva E; Stranecky, Viktor V; Tavandzis, Spiros S; Kleiblova, Petra P; Vocka, Michal M; Hartmannova, Hana H; Hodanova, Katerina K; Kmoch, Stanislav S; Kleibl, Zdenek Z

Publication Date: 2018

Variant appearance in text: N/A

PubMed Link: 29649263

Variant Present in the following documents:

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Characterizing Metastatic HER2-Positive Gastric Cancer at the CDH1 Haplotype.

International Journal Of Molecular Sciences

Caggiari, Laura L; Miolo, Gianmaria G; Buonadonna, Angela A; Basile, Debora D; Santeufemia, Davide A DA; Cossu, Antonio A; Palmieri, Giuseppe G; De Zorzi, Mariangela M; Fornasarig, Mara M; Alessandrini, Lara L; Canzonieri, Vincenzo V; Lo Re, Giovanni G; Puglisi, Fabio F; Steffan, Agostino A; Cannizzaro, Renato R; De Re, Valli V

Publication Date: 2017-12-23

Variant appearance in text: CDH1: 2076T>C; rs1801552

PubMed Link: 29295527

Variant Present in the following documents:

• Main text
• ijms-19-00047.pdf

View BVdb publication page

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