Genetic/familial high-risk assessment: breast and ovarian, version 1.2014.

During the past few years, several genetic aberrations that may contribute to increased risks for development of breast and/or ovarian cancers have been identified. The NCCN Guidelines for Genetic/Familial High-Risk Assessment: Breast and Ovarian focus specifically on the assessment of genetic mutations in BRCA1/BRCA2, TP53, and PTEN, and recommend approaches to genetic testing/counseling and management strategies in individuals with these mutations. This portion of the NCCN Guidelines includes recommendations regarding diagnostic criteria and management of patients with Cowden Syndrome/PTEN hamartoma tumor syndrome.

[1]  J. Mester,et al.  PTEN hamartoma tumor syndrome. , 2016, Handbook of clinical neurology.

[2]  E. Swisher,et al.  Cowden syndrome and the PTEN hamartoma tumor syndrome: systematic review and revised diagnostic criteria. , 2013, Journal of the National Cancer Institute.

[3]  Mary B. Daly,et al.  BRCA1 and BRCA2 Hereditary Breast and Ovarian Cancer , 2013 .

[4]  Erin E. Carlson,et al.  Selective estrogen receptor modulators and pharmacogenomic variation in ZNF423 regulation of BRCA1 expression: individualized breast cancer prevention. , 2013, Cancer discovery.

[5]  Diana Eccles,et al.  Cancer risks for BRCA1 and BRCA2 mutation carriers: results from prospective analysis of EMBRACE. , 2013, Journal of the National Cancer Institute.

[6]  A. LaCroix,et al.  Selective oestrogen receptor modulators in prevention of breast cancer: an updated meta-analysis of individual participant data , 2013, The Lancet.

[7]  R. Eeles,et al.  Germline BRCA mutations are associated with higher risk of nodal involvement, distant metastasis, and poor survival outcomes in prostate cancer. , 2013, Journal of clinical oncology : official journal of the American Society of Clinical Oncology.

[8]  K. Offit,et al.  Multiplex genetic testing for cancer susceptibility: out on the high wire without a net? , 2013, Journal of clinical oncology : official journal of the American Society of Clinical Oncology.

[9]  Florentia Fostira,et al.  Hereditary Breast Cancer: The Era of New Susceptibility Genes , 2013, BioMed research international.

[10]  V. Brouste,et al.  High cumulative risks of cancer in patients with PTEN hamartoma tumour syndrome , 2013, Journal of Medical Genetics.

[11]  Elisabeth Cardis,et al.  Exposure to diagnostic radiation and risk of breast cancer among carriers of BRCA1/2 mutations: retrospective cohort study (GENE-RAD-RISK) , 2012, BMJ : British Medical Journal.

[12]  S. Narod,et al.  Routine TP53 testing for breast cancer under age 30: ready for prime time? , 2012, Familial Cancer.

[13]  J. George,et al.  BRCA mutation frequency and patterns of treatment response in BRCA mutation-positive women with ovarian cancer: a report from the Australian Ovarian Cancer Study Group. , 2012, Journal of clinical oncology : official journal of the American Society of Clinical Oncology.

[14]  Sofia Khan,et al.  Risk of cancer other than breast or ovarian in individuals with BRCA1 and BRCA2 mutations , 2012, Familial Cancer.

[15]  W. Eiermann,et al.  BRCA2 Mutations and Triple-Negative Breast Cancer , 2012, PloS one.

[16]  M. Yaffe,et al.  Long-term results of screening with magnetic resonance imaging in women with BRCA mutations , 2012, British Journal of Cancer.

[17]  D. Easton,et al.  Germline BRCA1 mutations increase prostate cancer risk , 2012, British Journal of Cancer.

[18]  S. Teo,et al.  Comparable frequency of BRCA1, BRCA2 and TP53 germline mutations in a multi-ethnic Asian cohort suggests TP53 screening should be offered together with BRCA1/2 screening to early-onset breast cancer patients , 2012, Breast Cancer Research.

[19]  C. Gatsonis,et al.  Annual screening strategies in BRCA1 and BRCA2 gene mutation carriers , 2012, Cancer.

[20]  F. Fostira,et al.  Prevalence of BRCA1 mutations among 403 women with triple-negative breast cancer: implications for genetic screening selection criteria: a Hellenic Cooperative Oncology Group Study , 2012, Breast Cancer Research and Treatment.

[21]  Diane D. Liu,et al.  Early onset HER2‐positive breast cancer is associated with germline TP53 mutations , 2012, Cancer.

[22]  Gord Glendon,et al.  Association Between BRCA1 and BRCA2 Mutations and Survival in Women With Invasive Epithelial Ovarian Cancer , 2012 .

[23]  C. Eng,et al.  Lifetime Cancer Risks in Individuals with Germline PTEN Mutations , 2012, Clinical Cancer Research.

[24]  L. Bernstein,et al.  Characteristics of triple-negative breast cancer in patients with a BRCA1 mutation: results from a population-based study of young women. , 2011, Journal of clinical oncology : official journal of the American Society of Clinical Oncology.

[25]  Rochelle L. Garcia,et al.  Mutations in 12 genes for inherited ovarian, fallopian tube, and peritoneal carcinoma identified by massively parallel sequencing , 2011, Proceedings of the National Academy of Sciences.

[26]  K. Hess,et al.  Association of BRCA1 and BRCA2 mutations with survival, chemotherapy sensitivity, and gene mutator phenotype in patients with ovarian cancer. , 2011, JAMA.

[27]  A. Jakubowska,et al.  Risk of breast cancer in women with a CHEK2 mutation with and without a family history of breast cancer. , 2011, Journal of clinical oncology : official journal of the American Society of Clinical Oncology.

[28]  S. Schnitt,et al.  Clinical outcome of triple negative breast cancer in BRCA1 mutation carriers and noncarriers , 2011, Cancer.

[29]  S. Fox,et al.  The Dawn of a Revolution in Personalized Lung Cancer Prevention , 2011, Cancer Prevention Research.

[30]  T. Prior,et al.  Predicting PTEN mutations: an evaluation of Cowden syndrome and Bannayan–Riley–Ruvalcaba syndrome clinical features , 2011, Journal of Medical Genetics.

[31]  A. Howell,et al.  Prevalence of BRCA1 and BRCA2 mutations in triple negative breast cancer , 2011, Journal of Medical Genetics.

[32]  J. Beyene,et al.  Biochemical and imaging surveillance in germline TP53 mutation carriers with Li-Fraumeni syndrome: a prospective observational study. , 2011, The Lancet. Oncology.

[33]  S. Neuhausen,et al.  Mutations in BRCA2 and PALB2 in male breast cancer cases from the United States , 2011, Breast Cancer Research and Treatment.

[34]  D. Moore,et al.  Risk-Reducing Salpingo-Oophorectomy (RRSO) in BRCA Mutation Carriers: Experience With a Consecutive Series of 111 Patients Using a Standardized Surgical-Pathological Protocol , 2011, International Journal of Gynecologic Cancer.

[35]  C. Hudis,et al.  Relative contributions of BRCA1 and BRCA2 mutations to “triple-negative” breast cancer in Ashkenazi Women , 2011, Breast Cancer Research and Treatment.

[36]  J. Schleutker,et al.  Screening for BRCA1, BRCA2, CHEK2, PALB2, BRIP1, RAD50, and CDH1 mutations in high-risk Finnish BRCA1/2-founder mutation-negative breast and/or ovarian cancer individuals , 2011, Breast Cancer Research.

[37]  G. Mills,et al.  Incidence and Outcome of BRCA Mutations in Unselected Patients with Triple Receptor-Negative Breast Cancer , 2011, Clinical Cancer Research.

[38]  Charis Eng,et al.  A clinical scoring system for selection of patients for PTEN mutation testing is proposed on the basis of a prospective study of 3042 probands. , 2011, American journal of human genetics.

[39]  C. Eng,et al.  Frequent gastrointestinal polyps and colorectal adenocarcinomas in a prospective series of PTEN mutation carriers. , 2010, Gastroenterology.

[40]  J. Douglas,et al.  Absence of CHEK2*1100delC mutation in families with hereditary breast cancer in North America. , 2010, Cancer genetics and cytogenetics.

[41]  S. Friedman,et al.  High risk men's perceptions of pre-implantation genetic diagnosis for hereditary breast and ovarian cancer. , 2010, Human reproduction.

[42]  N. Rahman,et al.  A novel HER2-positive breast cancer phenotype arising from germline TP53 mutations , 2010, Journal of Medical Genetics.

[43]  B. Bonanni,et al.  Oral contraceptive use and breast or ovarian cancer risk in BRCA1/2 carriers: a meta-analysis. , 2010, European journal of cancer.

[44]  D. Evans,et al.  Risk of breast cancer in male BRCA2 carriers , 2010, Journal of Medical Genetics.

[45]  L. Boardman,et al.  Cancer and Lhermitte-Duclos disease are common in Cowden syndrome patients , 2010, Hereditary cancer in clinical practice.

[46]  T. Byers,et al.  Population-based estimate of the contribution of TP53 mutations to subgroups of early-onset breast cancer: Australian Breast Cancer Family Study. , 2010, Cancer research.

[47]  J. Baselga,et al.  High prevalence of BRCA1/2 germline mutations in female breast cancer patients with triple-negative phenotype (TNBC) and family history. , 2010 .

[48]  Joseph P. Costantino,et al.  Update of the National Surgical Adjuvant Breast and Bowel Project Study of Tamoxifen and Raloxifene (STAR) P-2 Trial: Preventing Breast Cancer , 2010, Cancer Prevention Research.

[49]  P. Scardino,et al.  Germline BRCA Mutations Denote a Clinicopathologic Subset of Prostate Cancer , 2010, Clinical Cancer Research.

[50]  S. Narod,et al.  Screening for founder mutations in BRCA1 and BRCA2 in unselected Jewish women. , 2010, Journal of clinical oncology : official journal of the American Society of Clinical Oncology.

[51]  S. Friedman,et al.  Factors associated with preimplantation genetic diagnosis acceptance among women concerned about hereditary breast and ovarian cancer , 2009, Genetics in Medicine.

[52]  C. Eng,et al.  PTEN hamartoma tumor syndrome: An overview , 2009, Genetics in Medicine.

[53]  Catherine Bonaïti-Pellié,et al.  2009 version of the Chompret criteria for Li Fraumeni syndrome. , 2009, Journal of clinical oncology : official journal of the American Society of Clinical Oncology.

[54]  Z. Aziz,et al.  The prevalence of germ-line TP53 mutations in women diagnosed with breast cancer before age 30 , 2009, Familial Cancer.

[55]  Lindsey M. King,et al.  Conflict between values and technology: perceptions of preimplantation genetic diagnosis among women at increased risk for hereditary breast and ovarian cancer , 2009, Familial Cancer.

[56]  P. Shaw,et al.  Candidate serous cancer precursors in fallopian tube epithelium of BRCA1/2 mutation carriers , 2009, Modern Pathology.

[57]  Lindsey M. King,et al.  Attitudes of high-risk women toward preimplantation genetic diagnosis. , 2009, Fertility and sterility.

[58]  Maximina H. Yun,et al.  Understanding the functions of BRCA1 in the DNA-damage response. , 2009, Biochemical Society transactions.

[59]  M. Werner,et al.  Preimplantation genetic diagnosis for BRCA1/2—a novel clinical experience , 2009, Prenatal diagnosis.

[60]  A. Godwin,et al.  Hereditary ovarian carcinoma: Heterogeneity, molecular genetics, pathology, and management , 2009, Molecular oncology.

[61]  Stephanie A Cohen,et al.  The prevalence of BRCA1 mutations among young women with triple-negative breast cancer , 2009, BMC Cancer.

[62]  S. Sommer,et al.  Beyond Li Fraumeni Syndrome: clinical characteristics of families with p53 germline mutations. , 2009, Journal of clinical oncology : official journal of the American Society of Clinical Oncology.

[63]  J. Fandino,et al.  Lhermitte-Duclos disease with atypical vascularization--case report and review of the literature. , 2009, Clinical neuropathology.

[64]  A. Barkun,et al.  A case of Cowden's syndrome presenting with gastric carcinomas and gastrointestinal polyposis , 2009, Nature Clinical Practice Gastroenterology &Hepatology.

[65]  Ilir Agalliu,et al.  Associations of High-Grade Prostate Cancer with BRCA1 and BRCA2 Founder Mutations , 2009, Clinical Cancer Research.

[66]  K. McBride,et al.  The prevalence of PTEN mutations in a clinical pediatric cohort with autism spectrum disorders, developmental delay, and macrocephaly , 2009, Genetics in Medicine.

[67]  V. Sorrentino,et al.  Novel PTEN mutations in neurodevelopmental disorders and macrocephaly , 2009, Clinical genetics.

[68]  R. Pilarski Cowden Syndrome: A Critical Review of the Clinical Literature , 2009, Journal of Genetic Counseling.

[69]  Susan M. Domchek,et al.  Meta-analysis of Risk Reduction Estimates Associated With Risk-Reducing Salpingo-oophorectomy in BRCA1 or BRCA2 Mutation Carriers , 2009, Journal of the National Cancer Institute.

[70]  Laura H. Tang,et al.  BRCA germline mutations in Jewish patients with pancreatic adenocarcinoma. , 2009, Journal of clinical oncology : official journal of the American Society of Clinical Oncology.

[71]  M. Morrow,et al.  Prophylactic mastectomy and the timing of breast reconstruction , 2009, The British journal of surgery.

[72]  Barbara L. Smith,et al.  The American Cancer Society guidelines for breast screening with magnetic resonance imaging , 2008, Cancer.

[73]  W. Foulkes,et al.  Inherited susceptibility to common cancers. , 2008, The New England journal of medicine.

[74]  B. Henderson,et al.  Effect of Reproductive Factors and Oral Contraceptives on Breast Cancer Risk in BRCA1/2 Mutation Carriers and Noncarriers: Results from a Population-Based Study , 2008, Cancer Epidemiology Biomarkers & Prevention.

[75]  J. Apffelstaedt,et al.  Counseling for male BRCA mutation carriers: a review. , 2008, Breast.

[76]  R. Prentice,et al.  Menopausal hormone therapy in BRCA1 mutation carriers: uncertainty and caution. , 2008, Journal of the National Cancer Institute.

[77]  J. Klijn,et al.  Hormone Therapy and the Risk of Breast Cancer in BRCA1 Mutation Carriers , 2008, Journal of the National Cancer Institute.

[78]  C. Eng,et al.  Genetic and phenotypic heterogeneity in the PTEN hamartoma tumour syndrome , 2008, Oncogene.

[79]  D. L. Doyle,et al.  Standardized Human Pedigree Nomenclature: Update and Assessment of the Recommendations of the National Society of Genetic Counselors , 2008, Journal of Genetic Counseling.

[80]  Christopher I Amos,et al.  Clinical and pathologic characteristics of patients with BRCA-positive and BRCA-negative breast cancer. , 2008, Journal of clinical oncology : official journal of the American Society of Clinical Oncology.

[81]  P. Dennis,et al.  PTEN hamartoma tumor syndromes , 2008, European Journal of Human Genetics.

[82]  T. Rebbeck,et al.  The relative contribution of point mutations and genomic rearrangements in BRCA1 and BRCA2 in high-risk breast cancer families. , 2008, Cancer research.

[83]  K. Calzone,et al.  Genetic testing for cancer susceptibility. , 2008, The Surgical clinics of North America.

[84]  P Ghadirian,et al.  Rapid progression of prostate cancer in men with a BRCA2 mutation , 2008, British Journal of Cancer.

[85]  C. Bonaïti‐pellié,et al.  Molecular basis of the Li–Fraumeni syndrome: an update from the French LFS families , 2008, Journal of Medical Genetics.

[86]  W. Otten,et al.  Decision making regarding prophylactic mastectomy: stability of preferences and the impact of anticipated feelings of regret. , 2008, Journal of clinical oncology : official journal of the American Society of Clinical Oncology.

[87]  F. Chibon,et al.  Contribution of PTEN large rearrangements in Cowden disease: a multiplex amplifiable probe hybridisation (MAPH) screening approach , 2008, Journal of Medical Genetics.

[88]  P. Møller,et al.  Screening for familial ovarian cancer: poor survival of BRCA1/2 related cancers , 2008, Journal of Medical Genetics.

[89]  R. Eeles,et al.  Predicting the likelihood of carrying a BRCA1 or BRCA2 mutation: validation of BOADICEA, BRCAPRO, IBIS, Myriad and the Manchester scoring system using data from UK genetics clinics , 2008, Journal of Medical Genetics.

[90]  S. Heywang-Köbrunner,et al.  Multicenter Comparative Multimodality Surveillance of Women at Genetic-Familial High Risk for Breast Cancer (HIBCRIT Study): Interim Results , 2008 .

[91]  J. Liebelt,et al.  Preimplantation genetic diagnosis for BRCA1 exon 13 duplication mutation using linked polymorphic markers resulting in a live birth , 2008, Prenatal diagnosis.

[92]  T. Rebbeck,et al.  Risk-reducing salpingo-oophorectomy for the prevention of BRCA1- and BRCA2-associated breast and gynecologic cancer: a multicenter, prospective study. , 2008, Journal of clinical oncology : official journal of the American Society of Clinical Oncology.

[93]  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.

[94]  Collaborative Group on Hormonal Factors in Breast Cancer,et al.  Ovarian cancer and oral contraceptives: collaborative reanalysis of data from 45 epidemiological studies including 23 257 women with ovarian cancer and 87 303 controls , 2008, The Lancet.

[95]  P. Spellman,et al.  Ovarian carcinomas with genetic and epigenetic BRCA1 loss have distinct molecular abnormalities , 2008, BMC Cancer.

[96]  R. Eeles,et al.  Prostate cancer in male BRCA1 and BRCA2 mutation carriers has a more aggressive phenotype , 2008, British Journal of Cancer.

[97]  R. Simon,et al.  On the dynamics of breast tumor development in women carrying germline BRCA1 and BRCA2 mutations , 2007, International journal of cancer.

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

[99]  E. Woodward,et al.  Annual surveillance by CA125 and transvaginal ultrasound for ovarian cancer in both high‐risk and population risk women is ineffective , 2007, BJOG : an international journal of obstetrics and gynaecology.

[100]  Janine Senz,et al.  Hereditary diffuse gastric cancer: association with lobular breast cancer , 2007, Familial Cancer.

[101]  C. Tzeng,et al.  Hair follicle: a reliable source of recipient origin after allogeneic hematopoietic stem cell transplantation , 2007, Bone Marrow Transplantation.

[102]  T. Helbich,et al.  Magnetic Resonance Imaging of the Breast Improves Detection of Invasive Cancer, Preinvasive Cancer, and Premalignant Lesions during Surveillance of Women at High Risk for Breast Cancer , 2007, Clinical Cancer Research.

[103]  Ross S Berkowitz,et al.  Primary fallopian tube malignancies in BRCA-positive women undergoing surgery for ovarian cancer risk reduction. , 2007, Journal of clinical oncology : official journal of the American Society of Clinical Oncology.

[104]  C. Eng,et al.  Hamartomatous polyposis syndromes , 2007, Nature Clinical Practice Gastroenterology &Hepatology.

[105]  G. Tomlinson,et al.  Evidence for Common Ancestral Origin of a Recurring BRCA1 Genomic Rearrangement Identified in High-Risk Hispanic Families , 2007, Cancer Epidemiology Biomarkers & Prevention.

[106]  P. Miron,et al.  Germline E-cadherin mutations in familial lobular breast cancer , 2007, Journal of Medical Genetics.

[107]  Thorunn Rafnar,et al.  Prostate cancer progression and survival in BRCA2 mutation carriers. , 2007, Journal of the National Cancer Institute.

[108]  Julie O. Culver,et al.  Limited family structure and BRCA gene mutation status in single cases of breast cancer. , 2007, JAMA.

[109]  B. Fernandez,et al.  Founder and recurrent CDH1 mutations in families with hereditary diffuse gastric cancer. , 2007, JAMA.

[110]  I. Jacobs,et al.  Views of BRCA gene mutation carriers on preimplantation genetic diagnosis as a reproductive option for hereditary breast and ovarian cancer. , 2007, Human reproduction.

[111]  J. Berliner,et al.  Risk Assessment and Genetic Counseling for Hereditary Breast and Ovarian Cancer: Recommendations of the National Society of Genetic Counselors , 2007, Journal of Genetic Counseling.

[112]  K. McBride,et al.  Genetic testing in autism: how much is enough? , 2007, Genetics in Medicine.

[113]  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.

[114]  Eric Butter,et al.  Increasing knowledge of PTEN germline mutations: Two additional patients with autism and macrocephaly , 2007, American journal of medical genetics. Part A.

[115]  M. Yaffe,et al.  American Cancer Society Guidelines for Breast Screening with MRI as an Adjunct to Mammography , 2007, CA: a cancer journal for clinicians.

[116]  R. Berkowitz,et al.  Intraepithelial Carcinoma of the Fimbria and Pelvic Serous Carcinoma: Evidence for a Causal Relationship , 2007, The American journal of surgical pathology.

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

[118]  Barry Rosen,et al.  Population BRCA1 and BRCA2 mutation frequencies and cancer penetrances: a kin-cohort study in Ontario, Canada. , 2006, Journal of the National Cancer Institute.

[119]  K. Offit,et al.  Effect of Mammography on Breast Cancer Risk in Women with Mutations in BRCA1 or BRCA2 , 2006, Cancer Epidemiology Biomarkers & Prevention.

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

[121]  A. Whittemore,et al.  BRCA1 and BRCA2 Mutation Carriers, Oral Contraceptive Use, and Breast Cancer Before Age 50 , 2006, Cancer Epidemiology Biomarkers & Prevention.

[122]  S. Cummings,et al.  Effect of Raloxifene on the Incidence of Invasive Breast Cancer in Postmenopausal Women with Osteoporosis Categorized by Breast Cancer Risk , 2006, Clinical Cancer Research.

[123]  K. Hemminki,et al.  Familial risk for histology-specific bone cancers: an updated study in Sweden. , 2006, European journal of cancer.

[124]  L. Cipak,et al.  The role of BRCA2 in replication-coupled DNA interstrand cross-link repair in vitro , 2006, Nature Structural &Molecular Biology.

[125]  F. Couch,et al.  Salpingo-oophorectomy and the risk of ovarian, fallopian tube, and peritoneal cancers in women with a BRCA1 or BRCA2 Mutation. , 2006, JAMA.

[126]  Norman Wolmark,et al.  Effects of tamoxifen vs raloxifene on the risk of developing invasive breast cancer and other disease outcomes: the NSABP Study of Tamoxifen and Raloxifene (STAR) P-2 trial. , 2006, JAMA.

[127]  O. Olopade,et al.  Tamoxifen and contralateral breast cancer in BRCA1 and BRCA2 carriers: An update , 2006, International journal of cancer.

[128]  S. Orlow,et al.  Mucocutaneous neuromas: an underrecognized manifestation of PTEN hamartoma-tumor syndrome. , 2006, Archives of dermatology.

[129]  P. Møller,et al.  Screening mammography and risk of breast cancer in BRCA1 and BRCA2 mutation carriers: a case-control study. , 2006, The Lancet. Oncology.

[130]  Andrew Shenton,et al.  BRCA1, BRCA2 and TP53 mutations in very early-onset breast cancer with associated risks to relatives. , 2006, European journal of cancer.

[131]  T. Walsh,et al.  Spectrum of mutations in BRCA1, BRCA2, CHEK2, and TP53 in families at high risk of breast cancer. , 2006, JAMA.

[132]  Christopher P Crum,et al.  The Tubal Fimbria Is a Preferred Site for Early Adenocarcinoma in Women With Familial Ovarian Cancer Syndrome , 2006, The American journal of surgical pathology.

[133]  J. Krischer,et al.  BRCA1 and BRCA2 mutations account for a large proportion of ovarian carcinoma cases , 2005, Cancer.

[134]  R. Fimmers,et al.  Mammography, breast ultrasound, and magnetic resonance imaging for surveillance of women at high familial risk for breast cancer. , 2005, Journal of clinical oncology : official journal of the American Society of Clinical Oncology.

[135]  O. Olopade,et al.  Effect of short-term hormone replacement therapy on breast cancer risk reduction after bilateral prophylactic oophorectomy in BRCA1 and BRCA2 mutation carriers: the PROSE Study Group. , 2005, Journal of clinical oncology : official journal of the American Society of Clinical Oncology.

[136]  C. Bonaïti‐pellié,et al.  Impact of the MDM2 SNP309 and p53 Arg72Pro polymorphism on age of tumour onset in Li-Fraumeni syndrome , 2005, Journal of Medical Genetics.

[137]  T. Rebbeck,et al.  Breast cancer risk following bilateral oophorectomy in BRCA1 and BRCA2 mutation carriers: an international case-control study. , 2005, Journal of clinical oncology : official journal of the American Society of Clinical Oncology.

[138]  Nandita Mitra,et al.  Risk of ovarian cancer in BRCA1 and BRCA2 mutation-negative hereditary breast cancer families. , 2005, Journal of the National Cancer Institute.

[139]  J. C. Houwelingen,et al.  Cancer risks in BRCA2 families: estimates for sites other than breast and ovary , 2005, Journal of Medical Genetics.

[140]  Julian Peto,et al.  Prediction of BRCA1 Status in Patients with Breast Cancer Using Estrogen Receptor and Basal Phenotype , 2005, Clinical Cancer Research.

[141]  M. Trková,et al.  Identification of five new families strengthens the link between childhood choroid plexus carcinoma and germline TP53 mutations. , 2005, European journal of cancer.

[142]  C. Hudis,et al.  Four-year follow-up of outcomes following risk-reducing salpingo-oophorectomy in BRCA mutation carriers , 2005 .

[143]  K. Offit,et al.  The TP53 mutational spectrum and frequency of CHEK2*1100delC in Li–Fraumeni-like kindreds , 2005, Familial Cancer.

[144]  A R Padhani,et al.  Screening with magnetic resonance imaging and mammography of a UK population at high familial risk of breast cancer: a prospective multicentre cohort study (MARIBS) , 2005, The Lancet.

[145]  H. Nevanlinna,et al.  Relationship of patients' age to histopathological features of breast tumours in BRCA1 and BRCA2 and mutation-negative breast cancer families , 2005, Breast Cancer Research.

[146]  R. Brand,et al.  BRCA1 and pancreatic cancer: pedigree findings and their causal relationships. , 2005, Cancer genetics and cytogenetics.

[147]  C Eng,et al.  Subset of individuals with autism spectrum disorders and extreme macrocephaly associated with germline PTEN tumour suppressor gene mutations , 2005, Journal of Medical Genetics.

[148]  A. Whittemore,et al.  Oral Contraceptive Use and Risk of Early-Onset Breast Cancer in Carriers and Noncarriers of BRCA1 and BRCA2 Mutations , 2005, Cancer Epidemiology Biomarkers & Prevention.

[149]  K. Hemminki,et al.  Risk of cancer at sites other than the breast in Swedish families eligible for BRCA1 or BRCA2 mutation testing. , 2004, Annals of oncology : official journal of the European Society for Medical Oncology.

[150]  S. Cummings,et al.  Continuing outcomes relevant to Evista: breast cancer incidence in postmenopausal osteoporotic women in a randomized trial of raloxifene. , 2004, Journal of the National Cancer Institute.

[151]  E. Hovig,et al.  BRCA1 mutations in ovarian cancer and borderline tumours in Norway: a nested case–control study , 2004, British Journal of Cancer.

[152]  Emily White,et al.  Factors contributing to mammography failure in women aged 40-49 years. , 2004, Journal of the National Cancer Institute.

[153]  H. Murff,et al.  Cancer risk assessment: quality and impact of the family history interview. , 2004, American journal of preventive medicine.

[154]  H. Murff,et al.  Does this patient have a family history of cancer? An evidence-based analysis of the accuracy of family cancer history. , 2004, JAMA.

[155]  E. Ostrander,et al.  Frequency of CHEK2 mutations in a population based, case–control study of breast cancer in young women , 2004, Breast Cancer Research.

[156]  Ellen Warner,et al.  Surveillance of BRCA1 and BRCA2 mutation carriers with magnetic resonance imaging, ultrasound, mammography, and clinical breast examination , 2004, JAMA.

[157]  I. Yaniv,et al.  Prenatal Diagnosis in Li-Fraumeni Syndrome , 2004, Journal of pediatric hematology/oncology.

[158]  H. D. de Koning,et al.  Efficacy of MRI and mammography for breast-cancer screening in women with a familial or genetic predisposition. , 2004, The New England journal of medicine.

[159]  W. Foulkes,et al.  Germline E-cadherin mutations in hereditary diffuse gastric cancer: assessment of 42 new families and review of genetic screening criteria , 2004, Journal of Medical Genetics.

[160]  Ellen Warner,et al.  Contralateral breast cancer in BRCA1 and BRCA2 mutation carriers. , 2004, Journal of clinical oncology : official journal of the American Society of Clinical Oncology.

[161]  K. Offit,et al.  BRCA Mutations and Risk of Prostate Cancer in Ashkenazi Jews , 2004, Clinical Cancer Research.

[162]  C Eng,et al.  Will the real Cowden syndrome please stand up (again)? Expanding mutational and clinical spectra of the PTEN hamartoma tumour syndrome , 2004, Journal of Medical Genetics.

[163]  Thorunn Rafnar,et al.  The Icelandic founder mutation BRCA2 999del5: analysis of expression , 2004, Breast Cancer Research.

[164]  J. Klijn,et al.  Pathology of Ovarian Cancers in BRCA1 and BRCA2 Carriers , 2004, Clinical Cancer Research.

[165]  Julie O. Culver,et al.  Genetic Cancer Risk Assessment and Counseling: Recommendations of the National Society of Genetic Counselors , 2004, Journal of Genetic Counseling.

[166]  J. Garber,et al.  Prophylactic oophorectomy and hormone replacement therapy: protection at what price? , 2004, Journal of clinical oncology : official journal of the American Society of Clinical Oncology.

[167]  B. Karlan,et al.  Cancer risks for male carriers of germline mutations in BRCA1 or BRCA2: a review of the literature. , 2004, Journal of clinical oncology : official journal of the American Society of Clinical Oncology.

[168]  K. Offit,et al.  Fallopian tube and primary peritoneal carcinomas associated with BRCA mutations. , 2003, Journal of clinical oncology : official journal of the American Society of Clinical Oncology.

[169]  R. Langer,et al.  Influence of estrogen plus progestin on breast cancer and mammography in healthy postmenopausal women: the Women's Health Initiative Randomized Trial. , 2003, JAMA.

[170]  Kenneth Offit,et al.  Shared genetic susceptibility to breast cancer, brain tumors, and Fanconi anemia. , 2003, Journal of the National Cancer Institute.

[171]  Charis Eng,et al.  PTEN: One Gene, Many Syndromes , 2003, Human mutation.

[172]  J. Ivanovich,et al.  Germline PTEN promoter mutations and deletions in Cowden/Bannayan-Riley-Ruvalcaba syndrome result in aberrant PTEN protein and dysregulation of the phosphoinositol-3-kinase/Akt pathway. , 2003, American journal of human genetics.

[173]  R. L. Baldwin,et al.  Improved survival in women with BRCA‐associated ovarian carcinoma , 2003, Cancer.

[174]  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.

[175]  A. Dutra,et al.  Differentiation of human bone marrow-derived cells into buccal epithelial cells in vivo: a molecular analytical study , 2003, The Lancet.

[176]  P. Pharoah,et al.  Prediction of pathogenic mutations in patients with early-onset breast cancer by family history , 2003, The Lancet.

[177]  A. Ziegler,et al.  BRCA2 germline mutations in familial pancreatic carcinoma. , 2003, Journal of the National Cancer Institute.

[178]  C. Sotiriou,et al.  Molecular determinants of tumor differentiation in papillary serous ovarian carcinoma , 2003, Molecular carcinogenesis.

[179]  F. Couch,et al.  Oral contraceptives and the risk of breast cancer in BRCA1 and BRCA2 mutation carriers. , 2002, Journal of the National Cancer Institute.

[180]  J. Satagopan,et al.  Ovarian cancer risk in Ashkenazi Jewish carriers of BRCA1 and BRCA2 mutations. , 2002, Clinical cancer research : an official journal of the American Association for Cancer Research.

[181]  P. Wingo,et al.  Hormone Replacement Therapy Regimens and Breast Cancer Risk , 2002 .

[182]  Theo van der Kwast,et al.  A BRCA1/2 mutation, high breast density and prominent pushing margins of a tumor independently contribute to a frequent false‐negative mammography , 2002, International journal of cancer.

[183]  Mark E. Robson,et al.  Risk-reducing salpingo-oophorectomy in women with a BRCA1 or BRCA2 mutation , 2002 .

[184]  Charles Kooperberg,et al.  Risks and benefits of estrogen plus progestin in healthy postmenopausal women: principal results From the Women's Health Initiative randomized controlled trial. , 2002, JAMA.

[185]  R. Barkardottir,et al.  The effect of a single BRCA2 mutation on cancer in Iceland , 2002, Journal of medical genetics.

[186]  Kathleen M Murphy,et al.  Evaluation of candidate genes MAP2K4, MADH4, ACVR1B, and BRCA2 in familial pancreatic cancer: deleterious BRCA2 mutations in 17%. , 2002, Cancer research.

[187]  Susan L Neuhausen,et al.  Prophylactic oophorectomy in carriers of BRCA1 or BRCA2 mutations. , 2002, The New England journal of medicine.

[188]  L. Aaltonen,et al.  Screening E‐cadherin in gastric cancer families reveals germline mutations only in hereditary diffuse gastric cancer kindred , 2002, Human mutation.

[189]  M. J. van de Vijver,et al.  The pathology of familial breast cancer: predictive value of immunohistochemical markers estrogen receptor, progesterone receptor, HER-2, and p53 in patients with mutations in BRCA1 and BRCA2. , 2002, Journal of clinical oncology : official journal of the American Society of Clinical Oncology.

[190]  Douglas F. Easton,et al.  Polygenic susceptibility to breast cancer and implications for prevention , 2002, Nature Genetics.

[191]  Ashok R Venkitaraman,et al.  Cancer Susceptibility and the Functions of BRCA1 and BRCA2 , 2002, Cell.

[192]  C Caldas,et al.  Incidence of gastric cancer and breast cancer in CDH1 (E-cadherin) mutation carriers from hereditary diffuse gastric cancer families. , 2001, Gastroenterology.

[193]  T. Walsh,et al.  Tamoxifen and breast cancer incidence among women with inherited mutations in BRCA1 and BRCA2: National Surgical Adjuvant Breast and Bowel Project (NSABP-P1) Breast Cancer Prevention Trial. , 2001, JAMA.

[194]  T. Sellers,et al.  Efficacy of bilateral prophylactic mastectomy in BRCA1 and BRCA2 gene mutation carriers. , 2001, Journal of the National Cancer Institute.

[195]  Douglas F Easton,et al.  BRCA1 and BRCA2 mutations in a population-based study of male breast cancer , 2001, Breast Cancer Research.

[196]  A. Wallgren,et al.  The western Swedish BRCA1 founder mutation 3171ins5; a 3.7 cM conserved haplotype of today is a reminiscence of a 1500-year-old mutation , 2001, European Journal of Human Genetics.

[197]  J. Klijn,et al.  Breast cancer after prophylactic bilateral mastectomy in women with a BRCA1 or BRCA2 mutation. , 2001, The New England journal of medicine.

[198]  S. Tsuji,et al.  Localization of a novel susceptibility gene for familial ovarian cancer to chromosome 3p22-p25. , 2001, Human molecular genetics.

[199]  D. Malkin Li-fraumeni syndrome. , 2001, Genes & cancer.

[200]  B. Rosen,et al.  Prevalence and penetrance of germline BRCA1 and BRCA2 mutations in a population series of 649 women with ovarian cancer. , 2001, American journal of human genetics.

[201]  J. Fraumeni,et al.  Germ-line p53 mutations predispose to a wide spectrum of early-onset cancers. , 2001, Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology.

[202]  C. Bonaïti‐pellié,et al.  Sensitivity and predictive value of criteria for p53germline mutation screening , 2001, Journal of medical genetics.

[203]  K. Heimdal,et al.  Tamoxifen and risk of contralateral breast cancer in BRCA1 and BRCA2 mutation carriers: a case-control study , 2000, The Lancet.

[204]  C. Eng Will the real Cowden syndrome please stand up: revised diagnostic criteria , 2000, Journal of medical genetics.

[205]  P. Porter,et al.  Breast density as a predictor of mammographic detection: comparison of interval- and screen-detected cancers. , 2000, Journal of the National Cancer Institute.

[206]  C R Key,et al.  Biologic characteristics of interval and screen-detected breast cancers. , 2000, Journal of the National Cancer Institute.

[207]  I. Soubeyran,et al.  Thyroid pathologic findings in patients with Cowden disease. , 1999, Annals of diagnostic pathology.

[208]  B. Ponder,et al.  The contribution of germline BRCA1 and BRCA2 mutations to familial ovarian cancer: no evidence for other ovarian cancer-susceptibility genes. , 1999, American journal of human genetics.

[209]  O. Olopade,et al.  Breast cancer risk after bilateral prophylactic oophorectomy in BRCA1 mutation carriers. , 1999, Journal of the National Cancer Institute.

[210]  S. Cummings,et al.  The effect of raloxifene on risk of breast cancer in postmenopausal women: results from the MORE randomized trial. Multiple Outcomes of Raloxifene Evaluation. , 1999, JAMA.

[211]  Shannon K. McDonnell,et al.  EFFICACY OF BILATERAL PROPHYLACTIC MASTECTOMY IN WOMEN WITH A FAMILY HISTORY OF BREAST CANCER , 1999 .

[212]  C. Woods,et al.  Novel PTEN mutations in patients with Cowden disease: absence of clear genotype–phenotype correlations , 1999, European Journal of Human Genetics.

[213]  B. Ponder,et al.  High frequency of germ-line BRCA2 mutations among Hungarian male breast cancer patients without family history. , 1999, Cancer research.

[214]  D. Berry,et al.  Attitudes, knowledge, and risk perceptions of women with breast and/or ovarian cancer considering testing for BRCA1 and BRCA2. , 1999, Journal of clinical oncology : official journal of the American Society of Clinical Oncology.

[215]  A. Mes-Masson,et al.  Founder BRCA1 and BRCA2 mutations in French Canadian breast and ovarian cancer families. , 1998, American journal of human genetics.

[216]  Torn,et al.  Frequency of germline and somatic BRCA1 mutations in ovarian cancer. , 1998, Clinical cancer research : an official journal of the American Association for Cancer Research.

[217]  D. Evans,et al.  Cancer phenotype correlates with constitutional TP53 genotype in families with the Li–Fraumeni syndrome , 1998, Oncogene.

[218]  B. Ponder,et al.  Oral Contraceptives and the Risk of Hereditary Ovarian Cancer , 1998 .

[219]  B. Weber,et al.  BRCA1 and BRCA2: from molecular genetics to clinical medicine. , 1998, Journal of clinical oncology : official journal of the American Society of Clinical Oncology.

[220]  J. Fraumeni,et al.  Multiple primary cancers in families with Li-Fraumeni syndrome. , 1998, Journal of the National Cancer Institute.

[221]  R Holland,et al.  Effect of mammographic breast density on breast cancer screening performance: a study in Nijmegen, The Netherlands. , 1998, Journal of epidemiology and community health.

[222]  J Chang-Claude,et al.  Genetic heterogeneity and penetrance analysis of the BRCA1 and BRCA2 genes in breast cancer families. The Breast Cancer Linkage Consortium. , 1998, American journal of human genetics.

[223]  C Eng,et al.  Mutation spectrum and genotype-phenotype analyses in Cowden disease and Bannayan-Zonana syndrome, two hamartoma syndromes with germline PTEN mutation. , 1998, Human molecular genetics.

[224]  Peter Devilee,et al.  BRCA1 genomic deletions are major founder mutations in Dutch breast cancer patients , 1997, Nature Genetics.

[225]  N. Day,et al.  Family history and the risk of breast cancer: A systematic review and meta‐analysis , 1997, International journal of cancer.

[226]  Steven Gallinger,et al.  Germline BRCA2 6174delT mutations in Ashkenazi Jewish pancreatic cancer patients , 1997, Nature Genetics.

[227]  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.

[228]  A. Levine p53, the Cellular Gatekeeper for Growth and Division , 1997, Cell.

[229]  B. Ponder,et al.  Mutation analysis of BRCA1 and BRCA2 in a male breast cancer population. , 1997, American journal of human genetics.

[230]  C A Bodian,et al.  Lobular neoplasia: Long term risk of breast cancer and relation to other factors , 1996, Cancer.

[231]  J. Rommens,et al.  BRCA2 germline mutations in male breast cancer cases and breast cancer families , 1996, Nature Genetics.

[232]  E. Mariman,et al.  Localization of the gene for Cowden disease to chromosome 10q22–23 , 1996, Nature Genetics.

[233]  R. Bennett,et al.  Recommendations for standardized human pedigree nomenclature. Pedigree Standardization Task Force of the National Society of Genetic Counselors. , 1995, American journal of human genetics.

[234]  S. Seal,et al.  Localization of a breast cancer susceptibility gene, BRCA2, to chromosome 13q12-13. , 1994, Science.

[235]  N Risch,et al.  Autosomal dominant inheritance of early‐onset breast cancer. Implications for risk prediction , 1994, Cancer.

[236]  D. Easton,et al.  Risks of cancer in BRCA1-mutation carriers , 1994, The Lancet.

[237]  A. Craft,et al.  Prevalence and diversity of constitutional mutations in the p53 gene among 21 Li-Fraumeni families. , 1994, Cancer research.

[238]  M. Slattery,et al.  A comprehensive evaluation of family history and breast cancer risk. The Utah Population Database. , 1993, JAMA.

[239]  J. Manson,et al.  Family history, age, and risk of breast cancer. Prospective data from the Nurses' Health Study. , 1993, JAMA.

[240]  M. Piver,et al.  Primary peritoneal carcinoma after prophylactic oophorectomy in women with a family history of ovarian cancer. A report of the gilda radner familial ovarian cancer registry , 1993, Cancer.

[241]  K. Kinzler,et al.  The multistep nature of cancer. , 1993, Trends in genetics : TIG.

[242]  B. Burke,et al.  Bannayan-Riley-Ruvalcaba syndrome. , 1992, American journal of medical genetics.

[243]  L. Strong,et al.  Segregation analysis of cancer in families of childhood soft-tissue-sarcoma patients. , 1992, American journal of human genetics.

[244]  B. Vogelstein,et al.  Inherited p53 gene mutations in breast cancer. , 1992, Cancer research.

[245]  J. Fraumeni,et al.  Follow-up study of twenty-four families with Li-Fraumeni syndrome. , 1991, Cancer research.

[246]  L. Strong,et al.  Germ line p53 mutations in a familial syndrome of breast cancer, sarcomas, and other neoplasms. , 1990, Science.

[247]  B. Vogelstein,et al.  A genetic model for colorectal tumorigenesis , 1990, Cell.

[248]  H. Lynch,et al.  Clinical/genetic features in hereditary breast cancer , 1990, Breast Cancer Research and Treatment.

[249]  W. Blattner,et al.  A cancer family syndrome in twenty-four kindreds. , 1988, Cancer research.

[250]  D Mukherjee,et al.  Head circumference reference data: birth to 18 years. , 1987, Pediatrics.

[251]  F. Arwert,et al.  The Cowden syndrome: a clinical and genetic study in 21 patients , 1986, Clinical genetics.

[252]  A. Mehregan,et al.  The dermatopathology of Cowden's syndrome * , 1979, The British journal of dermatology.

[253]  M. Wolf,et al.  Gowden's disease. A cutaneous marker of breast cancer , 1978 .

[254]  A. Mehregan,et al.  Trichilemmomas in Cowden's disease. , 1977, JAMA.

[255]  J. Fraumeni,et al.  Soft-tissue sarcomas, breast cancer, and other neoplasms. A familial syndrome? , 1969, Annals of internal medicine.

[256]  Erika L. Varner,et al.  Evaluation of BRCA1 mutations in an unselected patient population with triple-negative breast cancer , 2012, Breast Cancer Research and Treatment.

[257]  K. Offit,et al.  American Society of Clinical Oncology policy statement update: genetic and genomic testing for cancer susceptibility. , 2010, Journal of clinical oncology : official journal of the American Society of Clinical Oncology.

[258]  E. Friedman,et al.  Effect of BRCA1/2 mutations on long-term survival of patients with invasive ovarian cancer: the national Israeli study of ovarian cancer. , 2008, Journal of clinical oncology : official journal of the American Society of Clinical Oncology.

[259]  M. Beattie,et al.  Prevalence and characteristics of pancreatic cancer in families with BRCA1 and BRCA2 mutations , 2008, Familial Cancer.

[260]  L. Forétova,et al.  A rare tumor and an ethical dilemma in a family with a germline TP53 mutation. , 2008, Cancer genetics and cytogenetics.

[261]  P. Møller,et al.  The risk of endometrial cancer in women with BRCA1 and BRCA2 mutations. A prospective study. , 2007, Gynecologic oncology.

[262]  D. Fishman,et al.  Reproductive risk factors for ovarian cancer in carriers of BRCA1 or BRCA2 mutations: a case-control study. , 2007, The Lancet. Oncology.

[263]  Validity of Models for Predicting BRCA1 and BRCA2 Mutations , 2007, Annals of Internal Medicine.

[264]  T. Colgan,et al.  Clinical and pathologic findings of prophylactic salpingo-oophorectomies in 159 BRCA1 and BRCA2 carriers. , 2006, Gynecologic oncology.

[265]  M. Beattie,et al.  Risk-reducing salpingo-oophorectomy in BRCA mutation carriers: role of serial sectioning in the detection of occult malignancy. , 2005, Journal of clinical oncology : official journal of the American Society of Clinical Oncology.

[266]  K. Offit,et al.  Evaluation of germline PTEN mutations in endometrial cancer patients. , 2005, Gynecologic oncology.

[267]  L. J. Schelven,et al.  Bilateral prophylactic mastectomy reduces breast cancer risk in BRCA1 and BRCA2 mutation carriers: the PROSE Study Group , 2004 .

[268]  Holly Neibergs,et al.  Breast and ovarian cancer risks due to inherited mutations in BRCA1 and BRCA2 , 2004 .

[269]  J O Barentsz,et al.  Magnetic resonance imaging and mammography in women with a hereditary risk of breast cancer. , 2001, Journal of the National Cancer Institute.

[270]  D. Evans,et al.  Li-Fraumeni syndrome--a molecular and clinical review. , 1997, British Journal of Cancer.

[271]  J. Birkmeyer,et al.  Risk of breast cancer in carriers of BRCA gene mutations. , 1997, The New England journal of medicine.

[272]  R. Eeles Germline mutations in the TP53 gene. , 1995, Cancer surveys.

[273]  M. Osborne,et al.  Current management of lobular carcinoma in situ of the breast. , 1994, Oncology.

[274]  D. Lane,et al.  Cancer. p53, guardian of the genome. , 1992, Nature.

[275]  M. Wolf,et al.  Cowden's disease: a cutaneous marker of breast cancer. , 1978, Cancer.

[276]  K. Lloyd,et al.  Cowden's disease. A possible new symptom complex with multiple system involvement. , 1963 .