Karina M. Santiago

Sao Paulo, SP, Brazil

Last Updated: 09/26/2026

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Found 19 publications

Pancreatic Ductal Adenocarcinoma with Medullary Features and a Complete Pathological Response After Neoadjuvant FOLFIRINOX: A Case Report and Literature Review.

Pancreatic Ductal Adenocarcinoma with Medullary Features and a Complete Pathological Response After Neoadjuvant FOLFIRINOX: A Case Report and Literature Review.

Journal: Journal of gastrointestinal cancer

Published: November 07, 2024

Misclassification of a frequent variant from PMS2CL pseudogene as a PMS2 loss of function variant in Brazilian patients.

Misclassification of a frequent variant from PMS2CL pseudogene as a PMS2 loss of function variant in Brazilian patients.

Journal: Familial cancer

Published: March 26, 2024

Prevalence and clinical implications of germline pathogenic variants in cancer predisposing genes in young patients across sarcoma subtypes.

Prevalence and clinical implications of germline pathogenic variants in cancer predisposing genes in young patients across sarcoma subtypes.

Journal: Journal of medical genetics

Published: March 10, 2023

Germline pathogenic variants in patients with early-onset neuroendocrine neoplasms.

Germline pathogenic variants in patients with early-onset neuroendocrine neoplasms.

Journal: Endocrine-related cancer

Published: March 02, 2023

Risk of metastasis in BRCA2 carriers diagnosed with triple-negative breast cancer.

Risk of metastasis in BRCA2 carriers diagnosed with triple-negative breast cancer.

Journal: Cancer medicine

Published: February 09, 2023

Characterization of genetic predisposition to molecular subtypes of breast cancer in Brazilian patients.

Characterization of genetic predisposition to molecular subtypes of breast cancer in Brazilian patients.

Journal: Frontiers in oncology

Published: June 23, 2022

Frequency of Pathogenic Germline Variants in Cancer-Susceptibility Genes in the Childhood Cancer Survivor Study.

Frequency of Pathogenic Germline Variants in Cancer-Susceptibility Genes in the Childhood Cancer Survivor Study.

Journal: JNCI cancer spectrum

Published: August 24, 2020

Germline Mutation in MUS81 Resulting in Impaired Protein Stability is Associated with Familial Breast and Thyroid Cancer.

Germline Mutation in MUS81 Resulting in Impaired Protein Stability is Associated with Familial Breast and Thyroid Cancer.

Journal: Cancers

Published: March 25, 2020

XAF1 as a modifier of p53 function and cancer susceptibility.

XAF1 as a modifier of p53 function and cancer susceptibility.

Journal: Science advances

Published: November 26, 2019

Comprehensive germline mutation analysis and clinical profile in a large cohort of Brazilian xeroderma pigmentosum patients.

Comprehensive germline mutation analysis and clinical profile in a large cohort of Brazilian xeroderma pigmentosum patients.

Journal: Journal of the European Academy of Dermatology and Venereology : JEADV

Published: October 25, 2019

Li-Fraumeni Exploration Consortium Data Coordinating Center: Building an Interactive Web-Based Resource for Collaborative International Cancer Epidemiology Research for a Rare Condition.

Li-Fraumeni Exploration Consortium Data Coordinating Center: Building an Interactive Web-Based Resource for Collaborative International Cancer Epidemiology Research for a Rare Condition.

Journal: Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology

Published: October 14, 2019

MIR605 rs2043556 is associated with the occurrence of multiple primary tumors in TP53 p.(Arg337His) mutation carriers.

MIR605 rs2043556 is associated with the occurrence of multiple primary tumors in TP53 p.(Arg337His) mutation carriers.

Journal: Cancer genetics

Published: August 09, 2019

Showing 1-12 of 19

Last Updated: 09/26/2026