High prevalence of somatic PIK3CA and TP53 pathogenic variants in the normal mammary gland tissue of sporadic breast cancer patients revealed by duplex sequencing

[1]  O. Shebl,et al.  Discovery of an unusually high number of de novo mutations in sperm of older men using duplex sequencing , 2022, Genome research.

[2]  S. Mustjoki,et al.  Somatic Mutations in "Benign" Disease. , 2021, The New England journal of medicine.

[3]  M. Stratton,et al.  Somatic mutation landscapes at single-molecule resolution , 2021, Nature.

[4]  L. Breitenfeld,et al.  Influence of Estrogenic Metabolic Pathway Genes Polymorphisms on Postmenopausal Breast Cancer Risk , 2021, Pharmaceuticals.

[5]  J. Dumanski,et al.  Variable degree of mosaicism for tetrasomy 18p in phenotypically discordant monozygotic twins—Diagnostic implications , 2020, Molecular genetics & genomic medicine.

[6]  Andrew Menzies,et al.  Extensive heterogeneity in somatic mutation and selection in the human bladder , 2020, Science.

[7]  C. Bessant,et al.  Characterization of four subtypes in morphologically normal tissue excised proximal and distal to breast cancer , 2020, npj Breast Cancer.

[8]  V. McCormack,et al.  Global burden and trends in premenopausal and postmenopausal breast cancer: a population-based study. , 2020, The Lancet. Global health.

[9]  A. Prat,et al.  Frequency and spectrum of PIK3CA somatic mutations in breast cancer , 2020, Breast Cancer Research.

[10]  Lisle E. Mose,et al.  A P53-Independent DNA Damage Response Suppresses Oncogenic Proliferation and Genome Instability. , 2020, Cell reports.

[11]  Anton Nekrutenko,et al.  Increased yields of duplex sequencing data by a series of quality control tools , 2019, bioRxiv.

[12]  P. Tan,et al.  MED12, TERT and RARA in fibroepithelial tumours of the breast , 2019, Journal of Clinical Pathology.

[13]  Kwang-Huei Lin,et al.  Molecular Functions of Thyroid Hormone Signaling in Regulation of Cancer Progression and Anti-Apoptosis , 2019, International journal of molecular sciences.

[14]  C. Ng,et al.  Genetic Alterations in Benign Breast Biopsies of Subsequent Breast Cancer Patients , 2019, Front. Med..

[15]  Howard H. Yang,et al.  The transcription factor CBFB suppresses breast cancer through orchestrating translation and transcription , 2019, Nature Communications.

[16]  Eric P. Winer,et al.  Breast Cancer Treatment: A Review , 2019, JAMA.

[17]  A. Avan,et al.  Hereditary breast cancer; Genetic penetrance and current status with BRCA , 2018, Journal of cellular physiology.

[18]  S. Coughlin Epidemiology of Breast Cancer in Women. , 2013, Advances in experimental medicine and biology.

[19]  Matthew P. Goetz,et al.  NCCN CLINICAL PRACTICE GUIDELINES IN ONCOLOGY , 2019 .

[20]  M. Stratton,et al.  The mutational landscape of normal human endometrial epithelium , 2018, bioRxiv.

[21]  Anton Nekrutenko,et al.  Family reunion via error correction: an efficient analysis of duplex sequencing data , 2018, BMC Bioinformatics.

[22]  David Salgado,et al.  VarAFT: a variant annotation and filtration system for human next generation sequencing data , 2018, Nucleic Acids Res..

[23]  Ashton C. Berger,et al.  A Comprehensive Pan-Cancer Molecular Study of Gynecologic and Breast Cancers. , 2018, Cancer cell.

[24]  Cristina Has,et al.  Faculty of 1000 evaluation for 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. , 2018 .

[25]  Arnold J Levine,et al.  Why are there hotspot mutations in the TP53 gene in human cancers? , 2017, Cell Death and Differentiation.

[26]  A. Butte,et al.  Comprehensive analysis of normal adjacent to tumor transcriptomes , 2017, Nature Communications.

[27]  Icgc,et al.  Pan-cancer analysis of whole genomes , 2017, bioRxiv.

[28]  K. Britt,et al.  Estrogen Effects on the Mammary Gland in Early and Late Life and Breast Cancer Risk , 2017, Front. Oncol..

[29]  T. Stein,et al.  Mammary Gland Development , 2017, Methods in Molecular Biology.

[30]  V. Kristensen,et al.  Women at high risk of breast cancer: Molecular characteristics, clinical presentation and management. , 2016, Breast.

[31]  D. Steinemann,et al.  Lobular breast cancer: Clinical, molecular and morphological characteristics. , 2016, Pathology, research and practice.

[32]  N. Rosenfeld,et al.  The somatic mutation profiles of 2,433 breast cancers refines their genomic and transcriptomic landscapes , 2016, Nature Communications.

[33]  A. Sablina,et al.  Loss of Chromosome 8p Governs Tumor Progression and Drug Response by Altering Lipid Metabolism. , 2016, Cancer cell.

[34]  Andrew H. Beck,et al.  DNA defects, epigenetics, and gene expression in cancer-adjacent breast: a study from The Cancer Genome Atlas , 2016, npj Breast Cancer.

[35]  David C. Jones,et al.  Landscape of somatic mutations in 560 breast cancer whole genome sequences , 2016, Nature.

[36]  D. Danforth Genomic Changes in Normal Breast Tissue in Women at Normal Risk or at High Risk for Breast Cancer , 2016, Breast cancer : basic and clinical research.

[37]  Jinghui Zhang,et al.  Reply to Artifacts in the data of Hu et al. , 2015, Nature Genetics.

[38]  A. Piotrowski,et al.  Concurrent DNA Copy‐Number Alterations and Mutations in Genes Related to Maintenance of Genome Stability in Uninvolved Mammary Glandular Tissue from Breast Cancer Patients , 2015, Human mutation.

[39]  D. Absher,et al.  Signatures of post-zygotic structural genetic aberrations in the cells of histologically normal breast tissue that can predispose to sporadic breast cancer , 2015, Genome research.

[40]  Bale,et al.  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, Genetics in Medicine.

[41]  Fionn Murtagh,et al.  Ward’s Hierarchical Agglomerative Clustering Method: Which Algorithms Implement Ward’s Criterion? , 2011, Journal of Classification.

[42]  G. McVean,et al.  Integrating mapping-, assembly- and haplotype-based approaches for calling variants in clinical sequencing applications , 2014, Nature Genetics.

[43]  E. Knudsen,et al.  Retinoblastoma tumor suppressor pathway in breast cancer: prognosis, precision medicine, and therapeutic interventions , 2014, Breast Cancer Research.

[44]  Jean J. Zhao,et al.  PI3K in cancer: divergent roles of isoforms, modes of activation and therapeutic targeting , 2014, Nature Reviews Cancer.

[45]  B. Lemond A Snapshot of Breast Cancer , 2014 .

[46]  Steven P. Angus,et al.  MAP3K1: Genomic Alterations in Cancer and Function in Promoting Cell Survival or Apoptosis. , 2013, Genes & cancer.

[47]  K. Kinzler,et al.  Cancer Genome Landscapes , 2013, Science.

[48]  Steven J. M. Jones,et al.  Comprehensive molecular portraits of human breast tumours , 2013 .

[49]  A. Børresen-Dale,et al.  The landscape of cancer genes and mutational processes in breast cancer , 2012, Nature.

[50]  Per Karlsson,et al.  Clinical Implications of Gene Dosage and Gene Expression Patterns in Diploid Breast Carcinoma , 2010, Clinical Cancer Research.

[51]  Richard Durbin,et al.  Sequence analysis Fast and accurate short read alignment with Burrows – Wheeler transform , 2009 .

[52]  F. Lebrun,et al.  AKT1 inhibits homologous recombination by inducing cytoplasmic retention of BRCA1 and RAD51. , 2008, Cancer research.

[53]  J. Yager,et al.  Estrogen carcinogenesis in breast cancer. , 2006, The New England journal of medicine.

[54]  H. Iwase,et al.  [Breast cancer]. , 2006, Nihon rinsho. Japanese journal of clinical medicine.

[55]  C. Compton,et al.  AJCC Cancer Staging Manual , 2002, Springer New York.

[56]  R. Tibshirani,et al.  Gene expression patterns of breast carcinomas distinguish tumor subclasses with clinical implications , 2001, Proceedings of the National Academy of Sciences of the United States of America.

[57]  S. Leeder,et al.  A population based study , 1993, The Medical journal of Australia.

[58]  Robert C. Wolpert,et al.  A Review of the , 1985 .