Whole‐exome sequencing of non‐ BRCA1/BRCA2 mutation carrier cases at high‐risk for hereditary breast/ovarian cancer

Using Co-segregation and Loss of Heterozygosity Analysis to Define the Pathogenicity of Unclassified Variants in Hereditary Breast Cancer Patients

(2020) Rebeca Silveira Grasel et al.   Frontiers in Oncology

RECQL5 : Another DNA helicase potentially involved in hereditary breast cancer susceptibility

(2019) Alejandra Tavera-Tapia et al.   HUMAN MUTATION

Mutations in RABL3 alter KRAS prenylation and are associated with hereditary pancreatic cancer

(2019) Sahar Nissim et al.   NATURE GENETICS

Exome Sequencing in BRCA1- and BRCA2-Negative Greek Families Identifies MDM1 and NBEAL1 as Candidate Risk Genes for Hereditary Breast Cancer

(2019) Stavros Glentis et al.   Frontiers in Genetics

Whole genome sequencing in the clinic: empowerment or too much information?

(2018) Amanda J. Berberich et al.   CANADIAN MEDICAL ASSOCIATION JOURNAL

Complex Landscape of Germline Variants in Brazilian Patients With Hereditary and Early Onset Breast Cancer

(2018) Giovana T. Torrezan et al.   Frontiers in Genetics

Genetic epidemiology of ovarian cancer and prospects for polygenic risk prediction

(2017) Michelle R. Jones et al.   GYNECOLOGIC ONCOLOGY

Exomic variants of an elderly cohort of Brazilians in the ABraOM database

(2017) Michel Satya Naslavsky et al.   HUMAN MUTATION

Germline whole exome sequencing and large-scale replication identifies FANCM as a likely high grade serous ovarian cancer susceptibility gene

(2017) Ed Dicks et al.   Oncotarget

Candidate DNA repair susceptibility genes identified by exome sequencing in high-risk pancreatic cancer

(2016) Alyssa L. Smith et al.   CANCER LETTERS

Oncogenetics service and the Brazilian public health system: the experience of a reference Cancer Hospital

(2016) Edenir I. Palmero et al.   GENETICS AND MOLECULAR BIOLOGY

Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics

(2016) Sarah S. Kalia et al.   GENETICS IN MEDICINE

Genetic variants in microRNA and microRNA biogenesis pathway genes and breast cancer risk among women of African ancestry

(2016) Frank Qian et al.   HUMAN GENETICS

Prevalence ofBRCA1/2germline mutations in 21 401 families with breast and ovarian cancer

(2016) Karin Kast et al.   JOURNAL OF MEDICAL GENETICS

Analysis of protein-coding genetic variation in 60,706 humans

(2016) Monkol Lek et al.   NATURE

Ubiquitinated Fancd2 recruits Fan1 to stalled replication forks to prevent genome instability

(2016) C. Lachaud et al.   SCIENCE

Prevalence of BRCA1/BRCA2 mutations in a Brazilian population sample at-risk for hereditary breast cancer and characterization of its genetic ancestry

(2016) Gabriela C. Fernandes et al.   Oncotarget

Germline Mutations in FAN1 Cause Hereditary Colorectal Cancer by Impairing DNA Repair

(2015) Nuria Seguí et al.   GASTROENTEROLOGY

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

(2015) Sue Richards et al.   GENETICS IN MEDICINE

DISEASES: Text mining and data integration of disease–gene associations

(2015) Sune Pletscher-Frankild et al.   METHODS

Germline RECQL mutations are associated with breast cancer susceptibility

(2015) Cezary Cybulski et al.   NATURE GENETICS

Patterns and functional implications of rare germline variants across 12 cancer types

(2015) Charles Lu et al.   Nature Communications

Mutations in RECQL Gene Are Associated with Predisposition to Breast Cancer

(2015) Jie Sun et al.   PLoS Genetics

Trimmomatic: a flexible trimmer for Illumina sequence data

(2014) Anthony M. Bolger et al.   BIOINFORMATICS

A DNA repair variant in POLQ (c.-1060A > G) is associated to hereditary breast cancer patients: a case–control study

(2014) Ana Paula Carneiro Brandalize et al.   BMC CANCER

Single-nucleotide polymorphisms in DNA bypass polymerase genes and association with breast cancer and breast cancer subtypes among African Americans and Whites

(2014) Leila Family et al.   BREAST CANCER RESEARCH AND TREATMENT

Exome sequencing identifies FANCM as a susceptibility gene for triple-negative breast cancer

(2014) Johanna I. Kiiski et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Two Decades After BRCA: Setting Paradigms in Personalized Cancer Care and Prevention

(2014) F. J. Couch et al.   SCIENCE

Integrated analysis of germline and somatic variants in ovarian cancer

(2014) Krishna L. Kanchi et al.   Nature Communications

GEMINI: Integrative Exploration of Genetic Variation and Genome Annotations

(2013) Umadevi Paila et al.   PLoS Computational Biology

Integrative Genomics Viewer (IGV): high-performance genomics data visualization and exploration

(2012) H. Thorvaldsdottir et al.   BRIEFINGS IN BIOINFORMATICS

A program for annotating and predicting the effects of single nucleotide polymorphisms, SnpEff

(2012) Pablo Cingolani et al.   FLY

Exome Sequencing Identifies Rare Deleterious Mutations in DNA Repair Genes FANCC and BLM as Potential Breast Cancer Susceptibility Alleles

(2012) Ella R. Thompson et al.   PLoS Genetics

COSMIC (the Catalogue of Somatic Mutations in Cancer): a resource to investigate acquired mutations in human cancer

(2009) Simon A. Forbes et al.   NUCLEIC ACIDS RESEARCH

Mutational Analysis of Thirty-two Double-Strand DNA Break Repair Genes in Breast and Pancreatic Cancers

(2008) X. Wang et al.   CANCER RESEARCH