Mutations of TP53 and genes related to homologous recombination repair in breast cancer with germline BRCA1/2 mutations

[1]  S. Teo,et al.  TP53 somatic mutations in Asian breast cancer are associated with subtype-specific effects , 2022, bioRxiv.

[2]  William J. R. Longabaugh,et al.  The TP53 Database: transition from the International Agency for Research on Cancer to the US National Cancer Institute , 2022, Cell Death & Differentiation.

[3]  S. Stilgenbauer,et al.  Cost-effectiveness of precision cancer medicine-current challenges in the use of next generation sequencing for comprehensive tumour genomic profiling and the role of clinical utility frameworks (Review). , 2021, Molecular and clinical oncology.

[4]  B. Badaoui,et al.  Prevalence of specific and recurrent/founder pathogenic variants in BRCA genes in breast and ovarian cancer in North Africa , 2021, BMC cancer.

[5]  S. Mori,et al.  Utility of Homologous Recombination Deficiency Biomarkers Across Cancer Types , 2022, JCO precision oncology.

[6]  S. Bae,et al.  Differences in prognosis by p53 expression after neoadjuvant chemotherapy in triple-negative breast cancer , 2020, Annals of surgical treatment and research.

[7]  Sung-Won Kim,et al.  Clinicopathological characteristics of BRCA-associated breast cancer in Asian patients , 2020, Journal of pathology and translational medicine.

[8]  F. Saad,et al.  Olaparib for Metastatic Castration-Resistant Prostate Cancer. , 2020, The New England journal of medicine.

[9]  P. Chappuis,et al.  Clinical outcome of breast cancer in carriers of BRCA1 and BRCA2 mutations according to molecular subtypes , 2020, Scientific Reports.

[10]  Ryan L. Collins,et al.  The mutational constraint spectrum quantified from variation in 141,456 humans , 2020, Nature.

[11]  S. Bae,et al.  Differences in prognosis by p53 expression after neoadjuvant chemotherapy in triple-negative breast cancer. , 2019, Journal of Global Oncology.

[12]  B. Monk,et al.  Niraparib in Patients with Newly Diagnosed Advanced Ovarian Cancer. , 2019, The New England journal of medicine.

[13]  N. Hu,et al.  Clinicopathological and epidemiological significance of breast cancer subtype reclassification based on p53 immunohistochemical expression , 2019, npj Breast Cancer.

[14]  F. Fostira,et al.  Prevalence and founder effect of the BRCA1 p.(Val1833Met) variant in the Greek population, with further evidence for pathogenicity and risk modification. , 2019, Cancer genetics.

[15]  J. Pearson,et al.  Whole-genome sequencing reveals clinically relevant insights into the aetiology of familial breast cancers , 2019, Annals of oncology : official journal of the European Society for Medical Oncology.

[16]  Yassen Assenov,et al.  Maftools: efficient and comprehensive analysis of somatic variants in cancer , 2018, Genome research.

[17]  John L Marshall,et al.  Prevalence of Homologous Recombination-Related Gene Mutations Across Multiple Cancer Types. , 2018, JCO precision oncology.

[18]  Jia Gu,et al.  fastp: an ultra-fast all-in-one FASTQ preprocessor , 2018, bioRxiv.

[19]  K. Jensen,et al.  Homologous recombination deficiency (HRD) status predicts response to standard neoadjuvant chemotherapy in patients with triple-negative or BRCA1/2 mutation-associated breast cancer , 2018, Breast Cancer Research and Treatment.

[20]  J. Reis-Filho,et al.  Pan-cancer analysis of bi-allelic alterations in homologous recombination DNA repair genes , 2017, Nature Communications.

[21]  Xin Hu,et al.  The spectrum of BRCA mutations and characteristics of BRCA‐associated breast cancers in China: Screening of 2,991 patients and 1,043 controls by next‐generation sequencing , 2017, International journal of cancer.

[22]  E. Birney,et al.  HRDetect is a predictor of BRCA1 and BRCA2 deficiency based on mutational signatures , 2017, Nature Medicine.

[23]  Alan Ashworth,et al.  PARP inhibitors: Synthetic lethality in the clinic , 2017, Science.

[24]  H. Park,et al.  Identification of a Novel BRCA1 Pathogenic Mutation in Korean Patients Following Reclassification of BRCA1 and BRCA2 Variants According to the ACMG Standards and Guidelines Using Relevant Ethnic Controls , 2017, Cancer research and treatment : official journal of Korean Cancer Association.

[25]  Dmitriy Sonkin,et al.  TP53 Variations in Human Cancers: New Lessons from the IARC TP53 Database and Genomics Data , 2016, Human mutation.

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

[27]  James Y. Zou.  Analysis of protein-coding genetic variation in 60,706 humans , 2015, Nature.

[28]  Gabor T. Marth,et al.  A global reference for human genetic variation , 2015, Nature.

[29]  Diane D. Liu,et al.  Genotype–Phenotype Correlations by Ethnicity and Mutation Location in BRCA Mutation Carriers , 2015, The breast journal.

[30]  Jeong Eon Lee,et al.  The prevalence and spectrum of BRCA1 and BRCA2 mutations in Korean population: recent update of the Korean Hereditary Breast Cancer (KOHBRA) study , 2015, Breast Cancer Research and Treatment.

[31]  M. Jasin,et al.  Homologous recombination and human health: the roles of BRCA1, BRCA2, and associated proteins. , 2015, Cold Spring Harbor perspectives in biology.

[32]  R. Kanaar,et al.  Mediators of homologous DNA pairing. , 2014, Cold Spring Harbor perspectives in biology.

[33]  A. Tutt,et al.  Genomic scars as biomarkers of homologous recombination deficiency and drug response in breast and ovarian cancers , 2014, Breast Cancer Research.

[34]  Carlos Caldas,et al.  TP53 Mutation Spectrum in Breast Cancer Is Subtype Specific and Has Distinct Prognostic Relevance , 2014, Clinical Cancer Research.

[35]  M. King.  “The Race” to Clone BRCA1 , 2014, Science.

[36]  Kenneth Offit,et al.  Two Decades After BRCA: Setting Paradigms in Personalized Cancer Care and Prevention , 2014, Science.

[37]  Haeyoung Kim,et al.  Distribution of BRCA1 and BRCA2 Mutations in Asian Patients with Breast Cancer , 2013, Journal of breast cancer.

[38]  E. John,et al.  Prevalence and type of BRCA mutations in Hispanics undergoing genetic cancer risk assessment in the southwestern United States: a report from the Clinical Cancer Genetics Community Research Network. , 2013, Journal of clinical oncology : official journal of the American Society of Clinical Oncology.

[39]  S. Gabriel,et al.  Analysis of 6,515 exomes reveals a recent origin of most human protein-coding variants , 2012, Nature.

[40]  B. Carter.  Pathology of breast and ovarian cancers among BRCA1 and BRCA2 mutation carriers: results from the Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA) , 2013 .

[41]  Jeong Eon Lee,et al.  Prevalence of BRCA1 and BRCA2 mutations in non-familial breast cancer patients with high risks in Korea: The Korean Hereditary Breast Cancer (KOHBRA) Study , 2012, Breast Cancer Research and Treatment.

[42]  A. Ashworth,et al.  The DNA damage response and cancer therapy , 2012, Nature.

[43]  D. Noh,et al.  The Korean Hereditary Breast Cancer (KOHBRA) study: protocols and interim report. , 2011, Clinical oncology (Royal College of Radiologists (Great Britain)).

[44]  M. DePristo,et al.  A framework for variation discovery and genotyping using next-generation DNA sequencing data , 2011, Nature Genetics.

[45]  A. Kurian,et al.  Lifetime risks of specific breast cancer subtypes among women in four racial/ethnic groups , 2010, Breast Cancer Research.

[46]  H. Hakonarson,et al.  ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data , 2010, Nucleic acids research.

[47]  Richard Durbin,et al.  Fast and accurate long-read alignment with Burrows–Wheeler transform , 2010, Bioinform..

[48]  D. West,et al.  Clinical and pathological characteristics of Chinese patients with BRCA related breast cancer , 2009, The HUGO Journal.

[49]  Magali Olivier,et al.  TP53 mutations in human cancers: origins, consequences, and clinical use. , 2010, Cold Spring Harbor perspectives in biology.

[50]  P. Nederlof,et al.  High incidence of protein-truncating TP53 mutations in BRCA1-related breast cancer. , 2009, Cancer research.

[51]  Y. Miki,et al.  Cross‐sectional analysis of germline BRCA1 and BRCA2 mutations in Japanese patients suspected to have hereditary breast/ovarian cancer , 2008, Cancer science.

[52]  K.‐R. Lee,et al.  Mutation analysis of BRCA1 and BRCA2 from 793 Korean patients with sporadic breast cancer , 2006, Clinical genetics.

[53]  F. Couch,et al.  Control of BRCA2 cellular and clinical functions by a nuclear partner, PALB2. , 2006, Molecular cell.

[54]  J. Bergh,et al.  The clinical value of somatic TP53 gene mutations in 1,794 patients with breast cancer. , 2006, Clinical cancer research : an official journal of the American Association for Cancer Research.

[55]  Hilde van der Togt,et al.  Publisher's Note , 2003, J. Netw. Comput. Appl..

[56]  R. Schiestl,et al.  Homologous Recombination and Its Role in Carcinogenesis , 2002, Journal of biomedicine & biotechnology.

[57]  P. Chappuis,et al.  TP53 mutations in breast cancer associated with BRCA1 or BRCA2 germ-line mutations: distinctive spectrum and structural distribution. , 2001, Cancer research.

[58]  Wojciech Makalowski,et al.  Evolutionary conservation and somatic mutation hotspot maps of p53: correlation with p53 protein structural and functional features , 1999, Oncogene.

[59]  L. Norton,et al.  BRCA-associated breast cancer in young women. , 1998, Journal of clinical oncology : official journal of the American Society of Clinical Oncology.

[60]  B. Weber,et al.  Founder BRCA1 and BRCA2 mutations in Ashkenazi Jews in Israel: frequency and differential penetrance in ovarian cancer and in breast-ovarian cancer families. , 1997, American journal of human genetics.

[61]  G. Eichele,et al.  Embryonic lethality and radiation hypersensitivity mediated by Rad51 in mice lacking Brca2 , 1997, Nature.

[62]  Yonghong Xiao,et al.  Association of BRCA1 with Rad51 in Mitotic and Meiotic Cells , 1997, Cell.

[63]  Anne M. Bowcock,et al.  Identification of a RING protein that can interact in vivo with the BRCA1 gene product , 1996, Nature Genetics.

[64]  P. Jeffrey,et al.  Crystal structure of a p53 tumor suppressor-DNA complex: understanding tumorigenic mutations. , 1994, Science.