The importance of proper bioinformatics analysis and clinical interpretation of tumor genomic profiling: a case study of undifferentiated sarcoma and a constitutional pathogenic BRCA2 mutation and an MLH1 variant of uncertain significance

[1]  O. Olopade,et al.  Tumor genome analysis includes germline genome: Are we ready for surprises? , 2014, International journal of cancer.

[2]  A. Chinnaiyan,et al.  Clinical tumor sequencing: an incidental casualty of the American College of Medical Genetics and Genomics recommendations for reporting of incidental findings. , 2014, Journal of clinical oncology : official journal of the American Society of Clinical Oncology.

[3]  M. P. Leòn,et al.  Double heterozygosity for BRCA1 and hMLH1 gene mutations in a 46-year-old woman with five primary tumors , 2014, Techniques in Coloproctology.

[4]  Alex M. Fichtenholtz,et al.  Development and validation of a clinical cancer genomic profiling test based on massively parallel DNA sequencing , 2013, Nature Biotechnology.

[5]  Joshua L. Deignan,et al.  ACMG clinical laboratory standards for next-generation sequencing , 2013, Genetics in Medicine.

[6]  Richard Simon,et al.  Implementing personalized cancer genomics in clinical trials , 2013, Nature Reviews Drug Discovery.

[7]  E. Cuppen,et al.  Ethical, legal, and counseling challenges surrounding the return of genetic results in oncology. , 2013, Journal of clinical oncology : official journal of the American Society of Clinical Oncology.

[8]  E. Schröck,et al.  Germline truncating-mutations in BRCA1 and MSH6 in a patient with early onset endometrial cancer , 2012, BMC Cancer.

[9]  S. Puhalla,et al.  PARP inhibitors in breast cancer: BRCA and beyond. , 2011, Oncology.

[10]  O. Olopade,et al.  Predictors of contralateral breast cancer in BRCA1 and BRCA2 mutation carriers , 2011, British Journal of Cancer.

[11]  Stephen B Gruber,et al.  Accurate classification of MLH1/MSH2 missense variants with multivariate analysis of protein polymorphisms–mismatch repair (MAPP‐MMR) , 2008, Human mutation.

[12]  Giovanni Parmigiani,et al.  Breast cancer risk among male BRCA1 and BRCA2 mutation carriers. , 2007, Journal of the National Cancer Institute.

[13]  Giovanni Parmigiani,et al.  Meta-analysis of BRCA1 and BRCA2 penetrance. , 2007, Journal of clinical oncology : official journal of the American Society of Clinical Oncology.

[14]  W. Foulkes,et al.  Germline truncating mutations in both MSH2 and BRCA2 in a single kindred , 2004, British Journal of Cancer.

[15]  J. Hopper,et al.  Average risks of breast and ovarian cancer associated with BRCA1 or BRCA2 mutations detected in case Series unselected for family history: a combined analysis of 22 studies. , 2003, American journal of human genetics.

[16]  A. Lindblom,et al.  Germline BRCA1 and HMLH1 mutations in a family with male and female breast carcinoma , 2000, International journal of cancer.

[17]  S. Antonarakis,et al.  Mutation nomenclature extensions and suggestions to describe complex mutations: A discussion , 2000 .