Management of individuals with germline pathogenic/likely pathogenic variants in CHEK2: A clinical practice resource of the American College of Medical Genetics and Genomics (ACMG).

[1]  W. He,et al.  The impact of coding germline variants on contralateral breast cancer risk and survival , 2023, American journal of human genetics.

[2]  Jack A. Taylor,et al.  Contralateral Breast Cancer Risk Among Carriers of Germline Pathogenic Variants in ATM, BRCA1, BRCA2, CHEK2, and PALB2 , 2023, Journal of clinical oncology : official journal of the American Society of Clinical Oncology.

[3]  I. Bottillo,et al.  Two unrelated cases with biallelic CHEK2 variants:a novel condition with constitutional chromosomal instability? , 2022, European Journal of Human Genetics.

[4]  Z. Stadler,et al.  An updated counseling framework for moderate-penetrance colorectal cancer susceptibility genes. , 2022, Genetics in medicine : official journal of the American College of Medical Genetics.

[5]  D. McGuinness,et al.  Differences in Cancer Phenotypes Among Frequent CHEK2 Variants and Implications for Clinical Care—Checking CHEK2 , 2022, JAMA oncology.

[6]  S. Ellard,et al.  Reclassification of clinically-detected sequence variants: Framework for genetic clinicians and clinical scientists by CanVIG-UK (Cancer Variant Interpretation Group UK). , 2022, Genetics in medicine : official journal of the American College of Medical Genetics.

[7]  James M. Hodge,et al.  Breast Cancer Screening Strategies for Women With ATM, CHEK2, and PALB2 Pathogenic Variants: A Comparative Modeling Analysis. , 2022, JAMA oncology.

[8]  Mingxiang Teng,et al.  Unique ER PR expression pattern in breast cancers with CHEK2 mutation: a hormone receptor and HER2 analysis based on germline cancer predisposition genes , 2022, Breast cancer research : BCR.

[9]  Deborah P. Robin,et al.  CHEK2 mutations and papillary thyroid cancer: correlation or coincidence? , 2022, Hereditary cancer in clinical practice.

[10]  R. Eeles,et al.  Functional Analysis Identifies Damaging CHEK2 Missense Variants Associated with Increased Cancer Risk , 2021, Cancer research.

[11]  T. Pal Diversity in Cancer Genomics Research is a Matter of Equity and Scientific Discovery , 2021, Genetics in Medicine.

[12]  D. Silverman,et al.  Identification of Genetic Risk Factors for Familial Urinary Bladder Cancer: An Exome Sequencing Study , 2021, JCO precision oncology.

[13]  W. Foulkes,et al.  Companion Tumor Sequencing to Assess the Clinical Significance of Germline Sequencing in Children With Cancer , 2021, JAMA network open.

[14]  B. Taylor,et al.  The context-specific role of germline pathogenicity in tumorigenesis , 2021, Nature Genetics.

[15]  R. Truty,et al.  Re-evaluating cancer risks associated with the CHEK2 p.Ser428Phe Ashkenazi Jewish founder pathogenic variant , 2021, Familial Cancer.

[16]  M. Beckmann,et al.  Breast cancer risks associated with missense variants in breast cancer susceptibility genes , 2021, medRxiv.

[17]  Jack A. Taylor,et al.  Risk of Breast Cancer Among Carriers of Pathogenic Variants in Breast Cancer Predisposition Genes Varies by Polygenic Risk Score , 2021, Journal of clinical oncology : official journal of the American Society of Clinical Oncology.

[18]  A. Gutin,et al.  Comprehensive Breast Cancer Risk Assessment for CHEK2 and ATM Pathogenic Variant Carriers Incorporating a Polygenic Risk Score and the Tyrer-Cuzick Model , 2021, JCO precision oncology.

[19]  W. Chung,et al.  ACMG SF v3.0 list for reporting of secondary findings in clinical exome and genome sequencing: a policy statement of the American College of Medical Genetics and Genomics (ACMG) , 2021, Genetics in Medicine.

[20]  K. Nathanson,et al.  Performance of polygenic risk scores for cancer prediction in a racially diverse academic biobank , 2021, medRxiv.

[21]  R. Eeles,et al.  Combined Effect of a Polygenic Risk Score and Rare Genetic Variants on Prostate Cancer Risk. , 2021, European urology.

[22]  J. Koster,et al.  Prevalence of germline pathogenic variants in 22 cancer susceptibility genes in Swedish pediatric cancer patients , 2021, Scientific Reports.

[23]  M. Cho,et al.  Taking an antiracist posture in scientific publications in human genetics and genomics , 2021, Genetics in Medicine.

[24]  J. Kopczyński,et al.  Incidence of the CHEK2 Germline Mutation and Its Impact on Clinicopathological Features, Treatment Responses, and Disease Course in Patients with Papillary Thyroid Carcinoma , 2021, Cancers.

[25]  Stephen W. Hartley,et al.  Frequency of Pathogenic Germline Variants in Cancer-Susceptibility Genes in the Childhood Cancer Survivor Study. , 2021, JNCI cancer spectrum.

[26]  James M. Hodge,et al.  A Population-Based Study of Genes Previously Implicated in Breast Cancer. , 2021, The New England journal of medicine.

[27]  W. Chung,et al.  Does the law require reinterpretation and return of revised genomic results? , 2021, Genetics in Medicine.

[28]  Michael M. Khayat,et al.  Germline Cancer-Predisposition Variants in Pediatric Rhabdomyosarcoma: A Report from the Children's Oncology Group. , 2020, Journal of the National Cancer Institute.

[29]  D. Easton,et al.  CanRisk Tool—A Web Interface for the Prediction of Breast and Ovarian Cancer Risk and the Likelihood of Carrying Genetic Pathogenic Variants , 2020, Cancer Epidemiology, Biomarkers & Prevention.

[30]  M. Lambertini,et al.  Preimplantation genetic testing for carriers of BRCA1/2 pathogenic variants. , 2020, Critical reviews in oncology/hematology.

[31]  Beryl B. Cummings,et al.  The role of polygenic risk and susceptibility genes in breast cancer over the course of life , 2020, Nature Communications.

[32]  E. Winer,et al.  TBCRC 048: Phase II Study of Olaparib for Metastatic Breast Cancer and Mutations in Homologous Recombination-Related Genes. , 2020, Journal of clinical oncology : official journal of the American Society of Clinical Oncology.

[33]  Jaana M. Hartikainen,et al.  Breast Cancer Risk Genes - Association Analysis in More than 113,000 Women. , 2021, The New England journal of medicine.

[34]  A. Jakubowska,et al.  Mutations in ATM, NBN and BRCA2 predispose to aggressive prostate cancer in Poland , 2020, International journal of cancer.

[35]  Stephen W. Hartley,et al.  Subsequent Neoplasm Risk Associated With Rare Variants in DNA Damage Response and Clinical Radiation Sensitivity Syndrome Genes in the Childhood Cancer Survivor Study. , 2020, JCO precision oncology.

[36]  E. Golemis,et al.  Prevalence of pathogenic variants in DNA damage response and repair genes in patients undergoing cancer risk assessment and reporting a personal history of early-onset renal cancer , 2020, Scientific Reports.

[37]  L. Susswein,et al.  Differences in cancer prevalence among CHEK2 carriers identified via multi-gene panel testing. , 2020, Cancer genetics.

[38]  H. Krontiras,et al.  Expectations of Surveillance for Non-BRCA Gene Mutation Carriers at Increased Risk for Breast Cancer. , 2020, The Journal of surgical research.

[39]  N. LeBoeuf,et al.  Skin cancer risk in CHEK2 mutation carriers , 2020, Journal of the European Academy of Dermatology and Venereology : JEADV.

[40]  A. Sokolenko,et al.  Small fraction of testicular cancer cases may be causatively related to CHEK2 inactivating germ-line mutations: evidence for somatic loss of the remaining CHEK2 allele in the tumor tissue , 2020, Familial Cancer.

[41]  T. Pal,et al.  Cancer risk management among female BRCA1/2, PALB2, CHEK2, and ATM carriers , 2020, Breast Cancer Research and Treatment.

[42]  A. Dunning,et al.  Pathogenic Variants in CHEK2 Are Associated With an Adverse Prognosis in Symptomatic Early-Onset Breast Cancer. , 2020, JCO precision oncology.

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

[44]  M. Somerfield,et al.  Management of Hereditary Breast Cancer: American Society of Clinical Oncology, American Society for Radiation Oncology, and Society of Surgical Oncology Guideline. , 2020, Journal of clinical oncology : official journal of the American Society of Clinical Oncology.

[45]  Jennifer D. Brooks,et al.  Radiation treatment, ATM, BRCA1/2, and CHEK2*1100delC pathogenic variants, and risk of contralateral breast cancer. , 2020, Journal of the National Cancer Institute.

[46]  R. Jagsi,et al.  Association of Germline Genetic Testing Results With Locoregional and Systemic Therapy in Patients With Breast Cancer. , 2020, JAMA oncology.

[47]  S. Manley,et al.  High risk of breast cancer in women with biallelic pathogenic variants in CHEK2 , 2020, Breast Cancer Research and Treatment.

[48]  W. Chung,et al.  Is there a duty to reinterpret genetic data? The ethical dimensions , 2019, Genetics in Medicine.

[49]  K. Křížová,et al.  Identification of deleterious germline CHEK2 mutations and their association with breast and ovarian cancer , 2019, International journal of cancer.

[50]  R. Eeles,et al.  Germline DNA Repair Gene Mutations in Young-onset Prostate Cancer Cases in the UK: Evidence for a More Extensive Genetic Panel , 2019, European urology.

[51]  A. Philippakis,et al.  The "All of Us" Research Program. , 2019, The New England journal of medicine.

[52]  U. Boggi,et al.  Germline BRCA2 K3326X and CHEK2 I157T mutations increase risk for sporadic pancreatic ductal adenocarcinoma , 2019, International journal of cancer.

[53]  S. Pinder,et al.  Frequency of Pathogenic Germline Variants in CDH1, BRCA2, CHEK2, PALB2, BRCA1, and TP53 in Sporadic Lobular Breast Cancer , 2019, Cancer Epidemiology, Biomarkers & Prevention.

[54]  B. Taylor,et al.  Germline-focussed analysis of tumour-only sequencing: recommendations from the ESMO Precision Medicine Working Group , 2019, Annals of oncology : official journal of the European Society for Medical Oncology.

[55]  A. Papavassiliou,et al.  Functional characterization of CHEK2 variants in a Saccharomyces cerevisiae system , 2019, Human mutation.

[56]  J. Reis-Filho,et al.  The Landscape of Somatic Genetic Alterations in Breast Cancers from CHEK2 Germline Mutation Carriers , 2019, JNCI cancer spectrum.

[57]  Joshua L. Deignan,et al.  Points to consider in the reevaluation and reanalysis of genomic test results: a statement of the American College of Medical Genetics and Genomics (ACMG) , 2019, Genetics in Medicine.

[58]  Leslie Burke,et al.  Towards controlled terminology for reporting germline cancer susceptibility variants: an ENIGMA report , 2019, Journal of Medical Genetics.

[59]  Nathanael D. Moore,et al.  Association of Inherited Pathogenic Variants in Checkpoint Kinase 2 (CHEK2) With Susceptibility to Testicular Germ Cell Tumors , 2019, JAMA oncology.

[60]  A. Shuldiner,et al.  Homozygosity for CHEK2 p.Gly167Arg leads to a unique cancer syndrome with multiple complex chromosomal translocations in peripheral blood karyotype , 2019, Journal of Medical Genetics.

[61]  T. Caulfield,et al.  Integrative data fusion for comprehensive assessment of a novel CHEK2 variant using combined genomics, imaging, and functional-structural assessments via protein informatics. , 2019, Molecular omics.

[62]  B. Bonanni,et al.  Insight into genetic susceptibility to male breast cancer by multigene panel testing: Results from a multicenter study in Italy , 2019, International journal of cancer.

[63]  N. Wald,et al.  The illusion of polygenic disease risk prediction , 2019, Genetics in Medicine.

[64]  Joshua L. Deignan,et al.  Patient re-contact after revision of genomic test results: points to consider—a statement of the American College of Medical Genetics and Genomics (ACMG) , 2018, Genetics in Medicine.

[65]  John Garcia,et al.  Germline genetic testing for inherited prostate cancer in practice: Implications for genetic testing, precision therapy, and cascade testing , 2018, The Prostate.

[66]  N. Hawkins,et al.  Recontacting patients in clinical genetics services: recommendations of the European Society of Human Genetics , 2018, European Journal of Human Genetics.

[67]  M. Ladanyi,et al.  Prevalence of Germline Mutations in Cancer Susceptibility Genes in Patients With Advanced Renal Cell Carcinoma , 2018, JAMA oncology.

[68]  Vickie Hsuan,et al.  Correction: DNA breakpoint assay reveals a majority of gross duplications occur in tandem reducing VUS classifications in breast cancer predisposition genes , 2018, Genetics in Medicine.

[69]  Raymond M. Moore,et al.  Triple-Negative Breast Cancer Risk Genes Identified by Multigene Hereditary Cancer Panel Testing , 2018, Journal of the National Cancer Institute.

[70]  V. S. Gordeev,et al.  Cost-effectiveness of Population-Based BRCA1, BRCA2, RAD51C, RAD51D, BRIP1, PALB2 Mutation Testing in Unselected General Population Women , 2018, Journal of the National Cancer Institute.

[71]  Chenyu Sun,et al.  Association Between CHEK2*1100delC and Breast Cancer: A Systematic Review and Meta-Analysis , 2018, Molecular Diagnosis & Therapy.

[72]  Roland Eils,et al.  Spectrum and prevalence of genetic predisposition in medulloblastoma: a retrospective genetic study and prospective validation in a clinical trial cohort , 2018 .

[73]  K. Cooney,et al.  A comprehensive evaluation of CHEK2 germline mutations in men with prostate cancer , 2018, The Prostate.

[74]  Yadav Sapkota,et al.  Genetic Risk for Subsequent Neoplasms Among Long-Term Survivors of Childhood Cancer. , 2018, Journal of clinical oncology : official journal of the American Society of Clinical Oncology.

[75]  W. Isaacs,et al.  Intraductal/ductal histology and lymphovascular invasion are associated with germline DNA‐repair gene mutations in prostate cancer , 2018, The Prostate.

[76]  O. Olopade,et al.  Clinical interpretation of pathogenic ATM and CHEK2 variants on multigene panel tests: navigating moderate risk , 2018, Familial Cancer.

[77]  F. Couch,et al.  Frequency of mutations in a large series of clinically ascertained ovarian cancer cases tested on multi-gene panels compared to reference controls. , 2017, Gynecologic oncology.

[78]  H. Nevanlinna,et al.  CHEK2 c.1100delC mutation is associated with an increased risk for male breast cancer in Finnish patient population , 2017, BMC Cancer.

[79]  Yu-Xiao Yang,et al.  Colorectal cancer risk associated with the CHEK2 1100delC variant. , 2017, European journal of cancer.

[80]  E. Lander,et al.  A mutational signature reveals alterations underlying deficient homologous recombination repair in breast cancer , 2017, Nature Genetics.

[81]  Richard J. Wenstrup,et al.  PREVALENCE OF GERMLINE MUTATIONS IN CANCER GENES AMONG PANCREATIC CANCER PATIENTS WITH POSITIVE FAMILY HISTORY , 2017, Genetics in Medicine.

[82]  Gayle Patel,et al.  A study of over 35,000 women with breast cancer tested with a 25‐gene panel of hereditary cancer genes , 2017, Cancer.

[83]  Stuart J. Andrews,et al.  Implementation of next generation sequencing into pediatric hematology-oncology practice: moving beyond actionable alterations , 2016, Genome Medicine.

[84]  F. Couch,et al.  Male breast cancer in a multi-gene panel testing cohort: insights and unexpected results , 2016, Breast Cancer Research and Treatment.

[85]  A. Whittemore,et al.  Genetic modifiers of CHEK2*1100delC associated breast cancer risk , 2016, Genetics in Medicine.

[86]  M. Beckmann,et al.  Patient survival and tumor characteristics associated with CHEK2:p.I157T – findings from the Breast Cancer Association Consortium , 2016, Breast Cancer Research.

[87]  Michael Jones,et al.  Age- and Tumor Subtype-Specific Breast Cancer Risk Estimates for CHEK2*1100delC Carriers. , 2016, Journal of clinical oncology : official journal of the American Society of Clinical Oncology.

[88]  S. Bojesen,et al.  Increased Risk for Other Cancers in Addition to Breast Cancer for CHEK2*1100delC Heterozygotes Estimated From the Copenhagen General Population Study. , 2016, Journal of clinical oncology : official journal of the American Society of Clinical Oncology.

[89]  Vijai Joseph,et al.  Conflicting Interpretation of Genetic Variants and Cancer Risk by Commercial Laboratories as Assessed by the Prospective Registry of Multiplex Testing , 2016, Journal of clinical oncology : official journal of the American Society of Clinical Oncology.

[90]  Dong Liang,et al.  PALB2,CHEK2 and ATM rare variants and cancer risk: Data from COGS , 2016 .

[91]  M. Hall,et al.  Multigene Panels to Evaluate Hereditary Cancer Risk: Reckless or Relevant? , 2016, Journal of clinical oncology : official journal of the American Society of Clinical Oncology.

[92]  J. Kładny,et al.  Do founder mutations characteristic of some cancer sites also predispose to pancreatic cancer? , 2016, International journal of cancer.

[93]  J. Lubiński,et al.  The Prevalence of Founder Mutations among Individuals from Families with Familial Pancreatic Cancer Syndrome , 2016, Cancer research and treatment : official journal of Korean Cancer Association.

[94]  R. Broaddus,et al.  Germline multi-gene hereditary cancer panel testing in an unselected endometrial cancer cohort , 2016, Modern Pathology.

[95]  Ahmet Zehir,et al.  Inherited DNA-Repair Gene Mutations in Men with Metastatic Prostate Cancer. , 2016, The New England journal of medicine.

[96]  J. Khan,et al.  MultiDimensional ClinOmics for Precision Therapy of Children and Adolescent Young Adults with Relapsed and Refractory Cancer: A Report from the Center for Cancer Research , 2016, Clinical Cancer Research.

[97]  J. Mora,et al.  Exome and deep sequencing of clinically aggressive neuroblastoma reveal somatic mutations that affect key pathways involved in cancer progression , 2016, Oncotarget.

[98]  A. Clarke,et al.  Recontact in clinical practice: a survey of clinical genetics services in the United Kingdom , 2016, Genetics in Medicine.

[99]  J. Martens,et al.  Genomic profiling of CHEK2*1100delC-mutated breast carcinomas , 2015, BMC Cancer.

[100]  Raymond M. Moore,et al.  Prevalence of Pathogenic Mutations in Cancer Predisposition Genes among Pancreatic Cancer Patients , 2015, Cancer Epidemiology, Biomarkers & Prevention.

[101]  B. Dai,et al.  CHEK2 mutation and risk of prostate cancer: a systematic review and meta-analysis. , 2015, International journal of clinical and experimental medicine.

[102]  Nallasivam Palanisamy,et al.  Integrative Clinical Sequencing in the Management of Refractory or Relapsed Cancer in Youth. , 2015, JAMA.

[103]  Ping Sun,et al.  CHEK2 mutations and the risk of papillary thyroid cancer , 2015, International journal of cancer.

[104]  Yuntao Xie,et al.  Association between CHEK2 H371Y mutation and response to neoadjuvant chemotherapy in women with breast cancer , 2015, BMC Cancer.

[105]  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.

[106]  P. Gut,et al.  The c.470 T > C CHEK2 missense variant increases the risk of differentiated thyroid carcinoma in the Great Poland population , 2015, Hereditary cancer in clinical practice.

[107]  O. Potapova,et al.  Breast cancer sensitivity to neoadjuvant therapy in BRCA1 and CHEK2 mutation carriers and non-carriers , 2014, Breast Cancer Research and Treatment.

[108]  A Hollestelle,et al.  Survival and contralateral breast cancer in CHEK2 1100delC breast cancer patients: impact of adjuvant chemotherapy , 2014, British Journal of Cancer.

[109]  L. Schover,et al.  Comparison of attitudes regarding preimplantation genetic diagnosis among patients with hereditary cancer syndromes , 2014, Familial Cancer.

[110]  R. Wiśniowski,et al.  Survival from breast cancer in patients with CHEK2 mutations , 2014, Breast Cancer Research and Treatment.

[111]  A. Sokolenko,et al.  Development of breast tumors in CHEK2, NBN/NBS1 and BLM mutation carriers does not commonly involve somatic inactivation of the wild-type allele , 2014, Medical Oncology.

[112]  D. Easton,et al.  BOADICEA breast cancer risk prediction model: updates to cancer incidences, tumour pathology and web interface , 2013, British Journal of Cancer.

[113]  W. Zheng,et al.  Genetic variants associated with colorectal cancer risk: comprehensive research synopsis, meta-analysis, and epidemiological evidence , 2013, Gut.

[114]  L. Kiemeney,et al.  CHEK2*1100delC homozygosity in the Netherlands—prevalence and risk of breast and lung cancer , 2013, European Journal of Human Genetics.

[115]  H. Saal,et al.  Ethical and Policy Issues in Genetic Testing and Screening of Children , 2013, Pediatrics.

[116]  A. Jakubowska,et al.  The risk of gastric cancer in carriers of CHEK2 mutations , 2013, Familial Cancer.

[117]  S. Cross,et al.  CHEK2*1100delC heterozygosity in women with breast cancer associated with early death, breast cancer-specific death, and increased risk of a second breast cancer. , 2012, Journal of clinical oncology : official journal of the American Society of Clinical Oncology.

[118]  J. Lubiński,et al.  Different CHEK2 germline mutations are associated with distinct immunophenotypic molecular subtypes of breast cancer , 2012, Breast Cancer Research and Treatment.

[119]  K. Kuliczkowski,et al.  A risk of essential thrombocythemia in carriers of constitutional CHEK2 gene mutations , 2012, Haematologica.

[120]  S. Bojesen,et al.  CHEK2*1100delC and risk of malignant melanoma: Danish and German studies and meta-analysis. , 2012, The Journal of investigative dermatology.

[121]  A. W. van der Vaart,et al.  CHEK2*1100delC homozygosity is associated with a high breast cancer risk in women , 2011, Journal of Medical Genetics.

[122]  X. Geng,et al.  Meta-analysis of CHEK2 1100delC variant and colorectal cancer susceptibility. , 2011, European journal of cancer.

[123]  S. Vadaparampil,et al.  High-risk consumers’ perceptions of preimplantation genetic diagnosis for hereditary cancers: a systematic review and meta-analysis , 2011, Genetics in Medicine.

[124]  J. Kładny,et al.  CHEK2 mutations and HNPCC‐related colorectal cancer , 2010, International journal of cancer.

[125]  N. Miller,et al.  Evaluation of variants in the CHEK2, BRIP1 and PALB2 genes in an Irish breast cancer cohort , 2010, Breast Cancer Research and Treatment.

[126]  R. Winqvist,et al.  Haplotypes of the I157T CHEK2 germline mutation in ethnically diverse populations , 2009, Familial Cancer.

[127]  P. Souček,et al.  The CHEK2 gene I157T mutation and other alterations in its proximity increase the risk of sporadic colorectal cancer in the Czech population. , 2009, European journal of cancer.

[128]  R. Kaneva,et al.  CHEK2 I157T and endometrial cancer. , 2009, DNA and cell biology.

[129]  A. Jakubowska,et al.  Estrogen receptor status in CHEK2‐positive breast cancers: implications for chemoprevention , 2009, Clinical genetics.

[130]  A. Jakubowska,et al.  Constitutional CHEK2 mutations are associated with a decreased risk of lung and laryngeal cancers. , 2008, Carcinogenesis.

[131]  D. Horsman,et al.  Frequency of the CHEK2 1100delC mutation among women with breast cancer: an international study. , 2008, Cancer research.

[132]  A. Børresen-Dale,et al.  Risk for contralateral breast cancer among carriers of the CHEK2*1100delC mutation in the WECARE Study , 2008, British Journal of Cancer.

[133]  S. Bojesen,et al.  CHEK2*1100delC genotyping for clinical assessment of breast cancer risk: meta-analyses of 26,000 patient cases and 27,000 controls. , 2008, Journal of clinical oncology : official journal of the American Society of Clinical Oncology.

[134]  D. Evans,et al.  Is CHEK2 a cause of the Li–Fraumeni syndrome? , 2007, Journal of Medical Genetics.

[135]  R. Peto,et al.  Uncommon CHEK2 mis-sense variant and reduced risk of tobacco-related cancers: case control study. , 2007, Human molecular genetics.

[136]  J. Klijn,et al.  Identification of women with an increased risk of developing radiation-induced breast cancer: a case only study , 2007, Breast Cancer Research.

[137]  T. Dörk,et al.  Breast cancer in patients carrying a germ-line CHEK2 mutation: Outcome after breast conserving surgery and adjuvant radiotherapy. , 2007, Radiotherapy and oncology : journal of the European Society for Therapeutic Radiology and Oncology.

[138]  J. Kładny,et al.  Germline CHEK2 mutations and colorectal cancer risk: different effects of a missense and truncating mutations? , 2007, European Journal of Human Genetics.

[139]  K. Offit,et al.  Preimplantation genetic diagnosis for cancer syndromes: a new challenge for preventive medicine. , 2006, JAMA.

[140]  K. Offit,et al.  Cancer genetic testing and assisted reproduction. , 2006, Journal of clinical oncology : official journal of the American Society of Clinical Oncology.

[141]  S. Hahn,et al.  Low Frequency of CHEK2 Mutations in Familial Pancreatic Cancer , 2006, Familial Cancer.

[142]  S. Bojesen,et al.  Increased risk of breast cancer associated with CHEK2*1100delC. , 2006, Journal of clinical oncology : official journal of the American Society of Clinical Oncology.

[143]  J. Peterse,et al.  Breast cancer survival and tumor characteristics in premenopausal women carrying the CHEK2*1100delC germline mutation. , 2006, Journal of clinical oncology : official journal of the American Society of Clinical Oncology.

[144]  J. Lubiński,et al.  Pathology of breast cancer in women with constitutional CHEK2 mutations , 2005, Breast Cancer Research and Treatment.

[145]  Kenneth Offit,et al.  Functional and genomic approaches reveal an ancient CHEK2 allele associated with breast cancer in the Ashkenazi Jewish population. , 2005, Human molecular genetics.

[146]  Päivi Heikkilä,et al.  Correlation of CHEK2 protein expression and c.1100delC mutation status with tumor characteristics among unselected breast cancer patients , 2005, International journal of cancer.

[147]  J. Lubiński,et al.  CHEK2 is a multiorgan cancer susceptibility gene. , 2004, American journal of human genetics.

[148]  M. Schutte,et al.  Tumour characteristics and prognosis of breast cancer patients carrying the germline CHEK2*1100delC variant , 2004, Journal of Medical Genetics.

[149]  J. Lubiński,et al.  A novel founder CHEK2 mutation is associated with increased prostate cancer risk. , 2004, Cancer research.

[150]  A. Auvinen,et al.  CHEK2 1100delC is not a risk factor for male breast cancer population , 2004, International journal of cancer.

[151]  J. Klijn,et al.  The CHEK2 1100delC mutation identifies families with a hereditary breast and colorectal cancer phenotype. , 2003, American journal of human genetics.

[152]  David I. Smith,et al.  Mutations in CHEK2 associated with prostate cancer risk. , 2003, American journal of human genetics.

[153]  R. Eeles,et al.  Increasing evidence that germline mutations in CHEK2 do not cause Li‐Fraumeni syndrome , 2002, Human mutation.

[154]  Nazneen Rahman,et al.  Low-penetrance susceptibility to breast cancer due to CHEK2*1100delC in noncarriers of BRCA1 or BRCA2 mutations , 2002, Nature Genetics.

[155]  S. Ogawa,et al.  Mutations of Chk2 in primary hematopoietic neoplasms. , 2002, Blood.

[156]  K. Isselbacher,et al.  Heterozygous germ line hCHK2 mutations in Li-Fraumeni syndrome. , 1999, Science.

[157]  S. Elledge,et al.  Linkage of ATM to cell cycle regulation by the Chk2 protein kinase. , 1998, Science.

[158]  Genetics for all , 2019, Nature Genetics.

[159]  Sitao Wu,et al.  Association of Breast and Ovarian Cancers With Predisposition Genes Identified by Large-Scale Sequencing , 2019, JAMA Oncology.

[160]  Chuan Liu,et al.  The CHEK2 I157T variant and colorectal cancer susceptibility: a systematic review and meta-analysis. , 2012, Asian Pacific journal of cancer prevention : APJCP.

[161]  S. Angelova,et al.  CHEK2 gene alterations independently increase the risk of death from breast cancer in Bulgarian patients. , 2012, Neoplasma.

[162]  P. Hubáček,et al.  Alterations of CHEK2 forkhead-associated domain increase the risk of Hodgkin lymphoma. , 2011, Neoplasma.

[163]  S. Teutsch,et al.  The Evaluation of Genomic Applications in Practice and Prevention (EGAPP) initiative: methods of the EGAPP Working Group , 2009, Genetics in Medicine.

[164]  J. Klijn,et al.  Excess Risk for Contralateral Breast Cancer in CHEK2*1100delC Germline Mutation Carriers , 2004, Breast Cancer Research and Treatment.