Publications:

Detection of germline variants in Brazilian breast cancer patients using multigene panel testing.

Scientific Reports

Guindalini, Rodrigo Santa Cruz RSC; Viana, Danilo Vilela DV; Kitajima, João Paulo Fumio Whitaker JPFW; Rocha, Vinícius Marques VM; López, Rossana Verónica Mendoza RVM; Zheng, Yonglan Y; Freitas, Érika É; Monteiro, Fabiola Paoli Mendes FPM; Valim, André A; Schlesinger, David D; Kok, Fernando F; Olopade, Olufunmilayo I OI; Folgueira, Maria Aparecida Azevedo Koike MAAK

Publication Date: 2022-03-09

Variant appearance in text: MLH1: 1500_1502delCAT

PubMed Link: 35264596

Variant Present in the following documents:

• 41598_2022_7383_MOESM3_ESM.xlsx, sheet 1

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A computational and structural analysis of germline and somatic variants affecting the DDR mechanism, and their impact on human diseases.

Scientific Reports

Magraner-Pardo, Lorena L; Laskowski, Roman A RA; Pons, Tirso T; Thornton, Janet M JM

Publication Date: 2021-07-12

Variant appearance in text: MLH1: 1500_1502delCAT; Ile501del

PubMed Link: 34253785

Variant Present in the following documents:

• 41598_2021_93715_MOESM2_ESM.xlsx, sheet 8

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High Prevalence of Alterations in DNA Mismatch Repair Genes of Lynch Syndrome in Pediatric Patients with Adrenocortical Tumors Carrying a Germline Mutation on TP53.

Cancers

Brondani, Vania Balderrama VB; Montenegro, Luciana L; Lacombe, Amanda Meneses Ferreira AMF; Magalhães, Breno Marchiori BM; Nishi, Mirian Yumie MY; Funari, Mariana Ferreira de Assis MFA; Narcizo, Amanda de Moraes AM; Cardoso, Lais Cavalca LC; Siqueira, Sheila Aparecida Coelho SAC; Zerbini, Maria Claudia Nogueira MCN; Denes, Francisco Tibor FT; Latronico, Ana Claudia AC; Mendonca, Berenice Bilharinho BB; Almeida, Madson Queiroz MQ; Lerario, Antonio Marcondes AM; Soares, Ibere Cauduro IC; Fragoso, Maria Candida Barisson Villares MCBV

Publication Date: 2020-03-07

Variant appearance in text: MLH1: 1500_1502del

PubMed Link: 32156018

Variant Present in the following documents:

• Main text
• cancers-12-00621.pdf

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A survey of the clinicopathological and molecular characteristics of patients with suspected Lynch syndrome in Latin America.

Bmc Cancer

Rossi, Benedito Mauro BM; Palmero, Edenir Inêz EI; López-Kostner, Francisco F; Sarroca, Carlos C; Vaccaro, Carlos Alberto CA; Spirandelli, Florencia F; Ashton-Prolla, Patricia P; Rodriguez, Yenni Y; de Campos Reis Galvão, Henrique H; Reis, Rui Manuel RM; Escremim de Paula, André A; Capochin Romagnolo, Luis Gustavo LG; Alvarez, Karin K; Della Valle, Adriana A; Neffa, Florencia F; Kalfayan, Pablo German PG; Spirandelli, Enrique E; Chialina, Sergio S; Gutiérrez Angulo, Melva M; Castro-Mujica, Maria Del Carmen MDC; Sanchez de Monte, Julio J; Quispe, Richard R; da Silva, Sabrina Daniela SD; Rossi, Norma Teresa NT; Barletta-Carrillo, Claudia C; Revollo, Susana S; Taborga, Ximena X; Morillas, L Lena LL; Tubeuf, Hélène H; Monteiro-Santos, Erika Maria EM; Piñero, Tamara Alejandra TA; Dominguez-Barrera, Constantino C; Wernhoff, Patrik P; Martins, Alexandra A; Hovig, Eivind E; Møller, Pål P; Dominguez-Valentin, Mev M

Publication Date: 2017-09-05

Variant appearance in text: MLH1: 1500_1502delCAT; Ile501del

PubMed Link: 28874130

Variant Present in the following documents:

• Main text
• 12885_2017_Article_3599.pdf

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Mutation spectrum in South American Lynch syndrome families.

Hereditary Cancer In Clinical Practice

Dominguez-Valentin, Mev M; Nilbert, Mef M; Wernhoff, Patrik P; López-Köstner, Francisco F; Vaccaro, Carlos C; Sarroca, Carlos C; Palmero, Edenir Ines EI; Giraldo, Alejandro A; Ashton-Prolla, Patricia P; Alvarez, Karin K; Ferro, Alejandra A; Neffa, Florencia F; Caris, Junea J; Carraro, Dirce M DM; Rossi, Benedito M BM

Publication Date: 2013-12-18

Variant appearance in text: MLH1: 1499_1501delTCA; I500del

PubMed Link: 24344984

Variant Present in the following documents:

• Main text
• 1897-4287-11-18.pdf

View BVdb publication page