Multigene panel testing beyond BRCA1/2 in breast/ovarian cancer Spanish families and clinical actionability of findings

Differences in TP53 Mutation Carrier Phenotypes Emerge From Panel-Based Testing

(2018) Huma Q Rana et al.   JNCI-Journal of the National Cancer Institute

Psychological impact of multigene cancer panel testing in patients with a clinical suspicion of hereditary cancer across Spain

(2018) I. Esteban et al.   PSYCHO-ONCOLOGY

Differences in TP53 Mutation Carrier Phenotypes Emerge From Panel-Based Testing

(2018) Huma Q Rana et al.   JNCI-Journal of the National Cancer Institute

Multigene panels in Ashkenazi Jewish patients yield high rates of actionable mutations in multiple non- BRCA cancer-associated genes

(2017) Melissa K. Frey et al.   GYNECOLOGIC ONCOLOGY

Multigene Panel Testing Provides a New Perspective on Lynch Syndrome

(2017) Carin R. Espenschied et al.   JOURNAL OF CLINICAL ONCOLOGY

Multiple-gene panel analysis in a case series of 255 women with hereditary breast and ovarian cancer

(2017) Gianluca Tedaldi et al.   Oncotarget

Benchmarking of Whole Exome Sequencing and Ad Hoc Designed Panels for Genetic Testing of Hereditary Cancer

(2017) Lídia Feliubadaló et al.   Scientific Reports

Associations Between Cancer Predisposition Testing Panel Genes and Breast Cancer

(2017) Fergus J. Couch et al.   JAMA Oncology

Prevention and screening in BRCA mutation carriers and other breast/ovarian hereditary cancer syndromes: ESMO Clinical Practice Guidelines for cancer prevention and screening†

(2016) S. Paluch-Shimon et al.   ANNALS OF ONCOLOGY

Almost 2% of Spanish breast cancer families are associated to germline pathogenic mutations in the ATM gene

(2016) A. Tavera-Tapia et al.   BREAST CANCER RESEARCH AND TREATMENT

Hereditary truncating mutations of DNA repair and other genes inBRCA1/BRCA2/PALB2-negatively tested breast cancer patients

(2016) F. Lhota et al.   CLINICAL GENETICS

The Fanconi anemia DNA damage repair pathway in the spotlight for germline predisposition to colorectal cancer

(2016) Clara Esteban-Jurado et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Truncating and missensePPM1Dmutations in early-onset and/or familial/hereditary prostate cancer patients

(2016) Marta Cardoso et al.   GENES CHROMOSOMES & CANCER

HumanRECQHelicase Pathogenic Variants, Population Variation and “Missing” Diseases

(2016) Wenqing Fu et al.   HUMAN MUTATION

TP53Variations in Human Cancers: New Lessons from the IARC TP53 Database and Genomics Data

(2016) Liacine Bouaoun et al.   HUMAN MUTATION

Risk of extracolonic cancers for people with biallelic and monoallelic mutations inMUTYH

(2016) Aung Ko Win et al.   INTERNATIONAL JOURNAL OF CANCER

Gene panel sequencing in familial breast/ovarian cancer patients identifies multiple novel mutations also in genes others than BRCA1/2

(2016) Cornelia Kraus et al.   INTERNATIONAL JOURNAL OF CANCER

No evidence that protein truncating variants inBRIP1are associated with breast cancer risk: implications for gene panel testing

(2016) Douglas F Easton et al.   JOURNAL OF MEDICAL GENETICS

PPM1DMosaic Truncating Variants in Ovarian Cancer Cases May Be Treatment-Related Somatic Mutations

(2016) Paul D. P. Pharoah et al.   JNCI-Journal of the National Cancer Institute

Biochemical and imaging surveillance in germline TP53 mutation carriers with Li-Fraumeni syndrome: 11 year follow-up of a prospective observational study

(2016) Anita Villani et al.   LANCET ONCOLOGY

Counselling framework for moderate-penetrance cancer-susceptibility mutations

(2016) Nadine Tung et al.   Nature Reviews Clinical Oncology

The transfer of multigene panel testing for hereditary breast and ovarian cancer to healthcare: What are the implications for the management of patients and families?

(2016) Marie Eliade et al.   Oncotarget

Targeted Next-Generation Sequencing Identifies a Recurrent Mutation in MCPH1 Associating with Hereditary Breast Cancer Susceptibility

(2016) Tuomo Mantere et al.   PLoS Genetics

PPM1DMosaic Truncating Variants in Ovarian Cancer Cases May Be Treatment-Related Somatic Mutations

(2016) Paul D. P. Pharoah et al.   JNCI-Journal of the National Cancer Institute

HBOC multi-gene panel testing: comparison of two sequencing centers

(2015) Christopher Schroeder et al.   BREAST CANCER RESEARCH AND TREATMENT

SEOM clinical guidelines in Hereditary Breast and ovarian cancer

(2015) G. Llort et al.   Clinical & Translational Oncology

From candidate gene studies to GWAS and post-GWAS analyses in breast cancer

(2015) Laura Fachal et al.   CURRENT OPINION IN GENETICS & DEVELOPMENT

Pathogenic and likely pathogenic variant prevalence among the first 10,000 patients referred for next-generation cancer panel testing

(2015) Lisa R. Susswein et al.   GENETICS IN MEDICINE

The APC I1307K allele conveys a significant increased risk for cancer

(2015) Ari Leshno et al.   INTERNATIONAL JOURNAL OF CANCER

Lynch Syndrome Caused by Germline PMS2 Mutations: Delineating the Cancer Risk

(2015) Sanne W. ten Broeke et al.   JOURNAL OF CLINICAL ONCOLOGY

Germline Mutations in the BRIP1, BARD1, PALB2, and NBN Genes in Women With Ovarian Cancer

(2015) Susan J. Ramus et al.   JNCI-Journal of the National Cancer Institute

ChIP-nexus enables improved detection of in vivo transcription factor binding footprints

(2015) Qiye He et al.   NATURE BIOTECHNOLOGY

Germline Mutations in the BRIP1, BARD1, PALB2, and NBN Genes in Women With Ovarian Cancer

(2015) Susan J. Ramus et al.   JNCI-Journal of the National Cancer Institute

Next-generation sequencing for the diagnosis of hereditary breast and ovarian cancer using genomic capture targeting multiple candidate genes

(2014) Laurent Castéra et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

APC Polymorphisms and the Risk of Colorectal Neoplasia: A HuGE Review and Meta-Analysis

(2013) Jing Liang et al.   AMERICAN JOURNAL OF EPIDEMIOLOGY

Familial risk-colorectal cancer: ESMO Clinical Practice Guidelines

(2013) J. Balmana et al.   ANNALS OF ONCOLOGY

The Effect of CHEK2 Variant I157T on Cancer Susceptibility: Evidence from a Meta-Analysis

(2013) Fei-fei Han et al.   DNA AND CELL BIOLOGY

About 1% of the breast and ovarian Spanish families testing negative forBRCA1andBRCA2are carriers ofRAD51Dpathogenic variants

(2013) Sara Gutiérrez-Enríquez et al.   INTERNATIONAL JOURNAL OF CANCER

Refining the role ofpms2in Lynch syndrome: germline mutational analysis improved by comprehensive assessment of variants

(2013) Ester Borràs et al.   JOURNAL OF MEDICAL GENETICS

Mosaic PPM1D mutations are associated with predisposition to breast and ovarian cancer

(2012) Elise Ruark et al.   NATURE

Mutations in BRIP1 confer high risk of ovarian cancer

(2011) Thorunn Rafnar et al.   NATURE GENETICS

MUTYH-associated polyposis (MAP)

(2010) Maartje Nielsen et al.   CRITICAL REVIEWS IN ONCOLOGY HEMATOLOGY

2009 Version of the Chompret Criteria for Li Fraumeni Syndrome

(2009) Julie Tinat et al.   JOURNAL OF CLINICAL ONCOLOGY