The identification of pathogenic variants in BRCA1/2 negative, high risk, hereditary breast and/or ovarian cancer patients: High frequency of FANCM pathogenic variants

Gene panel testing of 5589 BRCA1/2 -negative index patients with breast cancer in a routine diagnostic setting: results of the German Consortium for Hereditary Breast and Ovarian Cancer

(2018) Jan Hauke et al.   Cancer Medicine

Recent insights into the molecular basis of Fanconi anemia: genes, modifiers, and drivers

(2017) Ronald S. Cheung et al.   INTERNATIONAL JOURNAL OF HEMATOLOGY

Reanalysis of BRCA1/2 negative high risk ovarian cancer patients reveals novel germline risk loci and insights into missing heritability

(2017) Jaime L. Stafford et al.   PLoS One

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

(2017) Gianluca Tedaldi et al.   Oncotarget

Association Between Loss-of-Function Mutations Within the FANCM Gene and Early-Onset Familial Breast Cancer

(2017) Guido Neidhardt et al.   JAMA Oncology

Ready to clone: CNV detection and breakpoint fine-mapping in breast and ovarian cancer susceptibility genes by high-resolution array CGH

(2016) Karl Hackmann et al.   BREAST CANCER RESEARCH AND TREATMENT

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

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

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

Breast Cancer Heterogeneity Examined by High-Sensitivity Quantification of PIK3CA, KRAS, HRAS, and BRAF Mutations in Normal Breast and Ductal Carcinomas

(2016) Meagan B. Myers et al.   NEOPLASIA

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

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

CDH1 germ-line missense mutation identified by multigene sequencing in a family with no history of diffuse gastric cancer

(2015) Tirzah Braz Petta Lajus et al.   GENE

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

FANCMc.5791C>T nonsense mutation (rs144567652) induces exon skipping, affects DNA repair activity and is a familial breast cancer risk factor

(2015) Paolo Peterlongo et al.   HUMAN MOLECULAR GENETICS

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

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

Genetik des familiären Brust- und Eierstockkrebses: Paneldiagnostik – Möglichkeiten und Grenzen

(2015) Alfons Meindl et al.   Medizinische Genetik

Gene-Panel Sequencing and the Prediction of Breast-Cancer Risk

(2015) Douglas F. Easton et al.   NEW ENGLAND JOURNAL OF MEDICINE

Human Structural Variation: Mechanisms of Chromosome Rearrangements

(2015) Brooke Weckselblatt et al.   TRENDS IN GENETICS

Genetic testing of leiomyoma tissue in women younger than 30 years old might provide an effective screening approach for the hereditary leiomyomatosis and renal cell cancer syndrome (HLRCC)

(2015) Petr Martínek et al.   VIRCHOWS ARCHIV

Mutational profiling of familial male breast cancers reveals similarities with luminal A female breast cancer with rare TP53 mutations

(2014) S Deb et al.   BRITISH JOURNAL OF CANCER

Finnish Fanconi anemia mutations and hereditary predisposition to breast and prostate cancer

(2014) T. Mantere et al.   CLINICAL GENETICS

Hereditary leiomyomatosis and renal cell cancer (HLRCC): renal cancer risk, surveillance and treatment

(2014) Fred H. Menko et al.   Familial Cancer

Molecular analysis of Fanconi anemia: the experience of the Bone Marrow Failure Study Group of the Italian Association of Pediatric Onco-Hematology

(2014) D. De Rocco et al.   HAEMATOLOGICA

Rare and private variations in neural crest, apoptosis and sarcomere genes define the polygenic background of isolated Tetralogy of Fallot

(2014) M. Grunert et al.   HUMAN MOLECULAR GENETICS

Ovarian cancer

(2014) Gordon C Jayson et al.   LANCET

K63-linked ubiquitination of FANCG is required for its association with the Rap80-BRCA1 complex to modulate homologous recombination repair of DNA interstand crosslinks

(2014) B Zhu et al.   ONCOGENE

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

FANCM and FAAP24 Maintain Genome Stability via Cooperative as Well as Unique Functions

(2013) Yucai Wang et al.   MOLECULAR CELL

High prevalence and breast cancer predisposing role of the BLM c.1642 C>T (Q548X) mutation in Russia

(2011) Anna P. Sokolenko et al.   INTERNATIONAL JOURNAL OF CANCER

Hereditary diffuse gastric cancer: updated consensus guidelines for clinical management and directions for future research

(2010) R. C. Fitzgerald et al.   JOURNAL OF MEDICAL GENETICS

Germline mutations in CDH1 are infrequent in women with early-onset or familial lobular breast cancers

(2010) K. A. Schrader et al.   JOURNAL OF MEDICAL GENETICS