Publications:

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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: CDH1: 532-18C>T; rs200673941

PubMed Link: 33674644

Variant Present in the following documents:

• 41598_2021_84502_MOESM2_ESM.xlsx, sheet 10

View BVdb publication page

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Genomics of lethal prostate cancer at diagnosis and castration resistance.

The Journal Of Clinical Investigation

Mateo, Joaquin J; Seed, George G; Bertan, Claudia C; Rescigno, Pasquale P; Dolling, David D; Figueiredo, Ines I; Miranda, Susana S; Nava Rodrigues, Daniel D; Gurel, Bora B; Clarke, Matthew M; Atkin, Mark M; Chandler, Rob R; Messina, Carlo C; Sumanasuriya, Semini S; Bianchini, Diletta D; Barrero, Maialen M; Petermolo, Antonella A; Zafeiriou, Zafeiris Z; Fontes, Mariane M; Perez-Lopez, Raquel R; Tunariu, Nina N; Fulton, Ben B; Jones, Robert R; McGovern, Ursula U; Ralph, Christy C; Varughese, Mohini M; Parikh, Omi O; Jain, Suneil S; Elliott, Tony T; Sandhu, Shahneen S; Porta, Nuria N; Hall, Emma E; Yuan, Wei W; Carreira, Suzanne S; de Bono, Johann S JS

Publication Date: 2020-04-01

Variant appearance in text: rs200673941

PubMed Link: 31874108

Variant Present in the following documents:

• jci-130-132031-s100.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: CDH1: 532-18C>T; rs200673941

PubMed Link: 30895400

Variant Present in the following documents:

• Main text
• 10120_2019_Article_945.pdf

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: CDH1: 532-18C>T; rs200673941

PubMed Link: 30895400

Variant Present in the following documents:

• Main text
• 10120_2019_Article_945.pdf

View BVdb publication page

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A unified analytic framework for prioritization of non-coding variants of uncertain significance in heritable breast and ovarian cancer.

Bmc Medical Genomics

Mucaki, Eliseos J EJ; Caminsky, Natasha G NG; Perri, Ami M AM; Lu, Ruipeng R; Laederach, Alain A; Halvorsen, Matthew M; Knoll, Joan H M JH; Rogan, Peter K PK

Publication Date: 2016-04-11

Variant appearance in text: CDH1: 532-18C>T; rs200673941

PubMed Link: 27067391

Variant Present in the following documents:

• 12920_2016_178_MOESM14_ESM.xlsx, sheet 1
• 12920_2016_178_MOESM8_ESM.xlsx, sheet 1

View BVdb publication page

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Compound heterozygous mutations in the noncoding RNU4ATAC cause Roifman Syndrome by disrupting minor intron splicing.

Nature Communications

Merico, Daniele D; Roifman, Maian M; Braunschweig, Ulrich U; Yuen, Ryan K C RK; Alexandrova, Roumiana R; Bates, Andrea A; Reid, Brenda B; Nalpathamkalam, Thomas T; Wang, Zhuozhi Z; Thiruvahindrapuram, Bhooma B; Gray, Paul P; Kakakios, Alyson A; Peake, Jane J; Hogarth, Stephanie S; Manson, David D; Buncic, Raymond R; Pereira, Sergio L SL; Herbrick, Jo-Anne JA; Blencowe, Benjamin J BJ; Roifman, Chaim M CM; Scherer, Stephen W SW

Publication Date: 2015-11-02

Variant appearance in text: rs200673941

PubMed Link: 26522830

Variant Present in the following documents:

• ncomms9718-s2.xlsx, sheet 4

View BVdb publication page

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