Judy E. Garber, MD, MPH

Judy E. Garber, MD, MPH

Medical Oncology

Contact Information

Fax

617-582-8807

Appointments

617-632-2178 (Cancer Genetics and Prevention)
617-582-7777 (established patients CGP)
617-632-2175 (Breast Oncology)
617-632-3800 (established patients BO)
617-732-8111 (B-PREP Clinic)

Biography

Judy E. Garber, MD, MPH

Dr. Garber is the Susan F. Smith Chair and Chief of the Division of Cancer Genetics and Prevention at Dana-Farber Cancer Institute and a Professor of Medicine at Harvard Medical School.  She conducts research in clinical cancer genetics, with a special focus in genetics of breast cancer.  Dr. Garber is also a leader in research into the characteristics and treatment of triple negative breast cancer, the most common form in women with BRCA1 mutations and an expert in Li-Fraumeni Syndrome.  Her translational research focuses on the evaluation of novel agents targeting DNA repair defects in breast cancer, including PARP inhibitors for treatment and prevention of breast cancer and other BRCA-associated cancers, and the study of other agents for reduction of breast cancer risk.

 

Dr. Garber is a past president of the American Association for Cancer Research (AACR).  She served on the National Cancer Advisory Board of the National Cancer Institute and was elected into the American Society of Clinical Investigation, the American Association of Physicians and the National Academy of Medicine.  She serves as the Scientific Director of the Breast Cancer Research Foundation and is a past chair of the Breast Cancer Research Foundation Scientific Advisory Board.  She is an ASCO Statesman and a Fellow of the AACR Academy, and was its first president.  

Researcher

Physician

Chief, Division for Cancer Genetics and Prevention
Susan F. Smith Chair
Institute Physician
Professor of Medicine, Harvard Medical School

Clinical Interests

Breast cancer, Cancer genetics, Cancer prevention

Diseases Treated

Board Certification

  • Hematology, 1988
  • Internal Medicine, 1984
  • Medical Oncology, 1987

Fellowship

  • Brigham and Women's Hospital, Hematology
  • Dana-Farber Cancer Institute, Cancer Epidemiology
  • Dana-Farber Cancer Institute, Medical Oncology

Residency

  • Brigham and Women's Hospital, Internal Medicine

Medical School

  • Yale University School of Medicine

Recent Awards

  • Charles H. Dyson Scholar in Clinical Research, DFCI 1997
  • Tisch Award, Dana-Farber Cancer Institute, 2007
  • ASCO Statesman Award, American Society of Clinical Oncology, 2008
  • Claire W. and Richard P. Morse Research Award, Dana-Farber Cancer Institute, 2009
  • Fellow, AACR Academy, American Association for Cancer Research, 2013
  • Member, Institute of Medicine/National Academy of Medicine, 2014
  • Margaret L. Kripke Legend Award, MD Anderson Cancer Center, 2017
  • AACR Joseph H. Burchenal Award for Outstanding Achievement in Clinical Cancer Research, 2017
  • Umberto Veronesi IEO Breast Cancer Award, 2017
  • President, American Association of Cancer Research 2011
  • ASCO American Cancer Society Cancer Prevention Award, 2019
  • Scientific Director, Breast Cancer Research Foundation

Research

    Clinical Cancer Genetics, Cancer Risk, and Prevention

    Our group has two areas of active interest: the identification of individuals with genetic factors that place them at high risk of developing cancer, and the development of strategies to reduce cancer risk. We focus on breast cancer primarily, but are now expanding our efforts to other cancers. Breast cancer genetics: Our group developed one of the first cancer risk and prevention clinics, where we recruit patients and families with hereditary and familial breast cancer, evaluate them for mutations in BRCA1, BRCA2, and other genes, and then enroll patients in ongoing follow-up studies. These studies evaluate the long-term psychosocial and medical effects of genetic testing and explore the best ways to integrate genetic testing into the care of women diagnosed with breast cancer. We are also studying the prevalence of germline p53 mutations and mutations in the Fanconi anemia (FA) genes in a cohort of the very youngest women diagnosed with breast cancer. In collaboration with Dr. Alan D'Andrea, we also plan to expand epidemiologic studies of the FA genes to squamous tumors. Breast cancer risk reduction: We are developing novel approaches to the chemoprevention of cancer and the identification of modulatable biomarkers for use in chemoprevention studies. One clinical trial uses aromatase inhibitors to reduce circulating estradiol in women who have the highest levels, and measures changes in bone density and mammographic breast density as biomarkers of hormone effect. Another trial is piloting tamoxifen in women with increased risk of breast cancer because of chest radiation therapy for Hodgkin's disease. In collaboration with Drs. Myles Brown and Bruce Spiegelman, we are developing biomarker assays for use in the evaluation of rosiglitazone in an early-phase breast cancer chemoprevention trial. In a phase I chemoprevention trial, we are studying the epidermal growth factor receptor (EGFR) antagonist, Iressa. Finally, we are developing duct lavage as a sampling technique with which to identify modulatable biomarkers for use in breast cancer chemoprevention trials.PharmacogeneticsWe are also interested in using genetic markers to identify individuals at particular risk for toxic side effects of chemoprevention agents. Two large national trials are evaluating the potential contributions of hereditary clotting abnormalities, factor V Leiden and prothrombin G20210A, to the risk of thromboembolic complications with tamoxifen.

    Publications

      • ASO Visual Abstract: Upgrade Rates and Breast Cancer Development Among Germline Pathogenic Variant Carriers with High-Risk Breast Lesions. Ann Surg Oncol. 2024 Feb 16. View in: Pubmed

      • A Randomized Trial of Two Remote Health Care Delivery Models on the Uptake of Genetic Testing and Impact on Patient-Reported Psychological Outcomes in Families With Pancreatic Cancer: The Genetic Education, Risk Assessment, and Testing (GENERATE) Study. Gastroenterology. 2024 Feb 05. View in: Pubmed

      • Patient-Reported Outcomes in OlympiA: A Phase III, Randomized, Placebo-Controlled Trial of Adjuvant Olaparib in gBRCA1/2 Mutations and High-Risk Human Epidermal Growth Factor Receptor 2-Negative Early Breast Cancer. J Clin Oncol. 2024 Feb 01; JCO2301214. View in: Pubmed

      • Development and evaluation of INT2GRATE: a platform for comprehensive assessment of the role of germline variants informed by tumor signature profile in Lynch syndrome. Front Oncol. 2023; 13:1284690. View in: Pubmed

      • Upgrade Rates and Breast Cancer Development Among Germline Pathogenic Variant Carriers with High-Risk Breast Lesions. Ann Surg Oncol. 2024 Jan 23. View in: Pubmed

      • Prevalence, Dynamics, and Prognostic Role of Clonal Hematopoiesis of Indeterminate Potential in Patients With Breast Cancer. J Clin Oncol. 2024 Jan 08; JCO2301071. View in: Pubmed

      • Comparative effectiveness and cost-effectiveness of natalizumab and fingolimod in rapidly evolving severe relapsing-remitting multiple sclerosis in the United Kingdom. J Med Econ. 2024 Jan-Dec; 27(1):109-125. View in: Pubmed

      • Right-Sizing Models of Genetic Cancer Predisposition Testing. JAMA Oncol. 2023 Nov 01; 9(11):1555-1556. View in: Pubmed

      • Germline EGFR Mutations and Familial Lung Cancer. J Clin Oncol. 2023 Dec 01; 41(34):5274-5284. View in: Pubmed

      • Multiple TP53 p.R337H haplotypes and implications for tumor susceptibility. HGG Adv. 2024 Jan 11; 5(1):100244. View in: Pubmed

      • Pretest Video Education Versus Genetic Counseling for Patients With Prostate Cancer: ProGen, A Multisite Randomized Controlled Trial. JCO Oncol Pract. 2023 Nov; 19(11):1069-1079. View in: Pubmed

      • Endometrial Cancer Risk Among Germline BRCA1/2 Pathogenic Variant Carriers: Review of Our Current Understanding and Next Steps. JCO Precis Oncol. 2023 Sep; 7:e2300290. View in: Pubmed

      • Homologous Recombination Deficiency Landscape of Breast Cancers and Real-World Effectiveness of Poly ADP-Ribose Polymerase Inhibitors in Patients With Somatic BRCA1/2, Germline PALB2, or Homologous Recombination Deficiency Signature. JCO Precis Oncol. 2023 Sep; 7:e2300091. View in: Pubmed

      • Relations among symptoms of depression over time in at-risk youth. J Psychopathol Clin Sci. 2023 Nov; 132(8):961-971. View in: Pubmed

      • Adjuvant Olaparib for Germline BRCA Carriers With HER2-Negative Early Breast Cancer: Evidence and Controversies. Oncologist. 2023 07 05; 28(7):565-574. View in: Pubmed

      • Correction to: Pathogenic variants among females with breast cancer and a non-breast cancer reveal opportunities for cancer interception. Breast Cancer Res Treat. 2023 Jul; 200(1):73. View in: Pubmed

      • Racial/ethnic differences in parenting behaviors among depressed parents. J Fam Psychol. 2023 Sep; 37(6):763-773. View in: Pubmed

      • Identification of BRCA1/2 mutation female carriers using circulating microRNA profiles. Nat Commun. 2023 06 08; 14(1):3350. View in: Pubmed

      • Phase II Trial of Nelipepimut-S Peptide Vaccine in Women with Ductal Carcinoma In Situ. Cancer Prev Res (Phila). 2023 06 01; 16(6):333-341. View in: Pubmed

      • Pathogenic variants among females with breast cancer and a non-breast cancer reveal opportunities for cancer interception. Breast Cancer Res Treat. 2023 Jul; 200(1):63-72. View in: Pubmed

      • Results of a randomized controlled trial of a decision support intervention for disclosing maternal BRCA genetic test results to children and adolescents. PEC Innov. 2023 Dec; 2:100129. View in: Pubmed

      • ASO Visual Abstract: Screening MRI Does Not Increase Cancer Detection or Result in Earlier Stage at Diagnosis in Patients with High-Risk Breast Lesions-A Propensity Score Analysis. Ann Surg Oncol. 2023 Jan; 30(1):78-79. View in: Pubmed

      • Lessons from the Failure to Complete a Trial of Denosumab in Women With a Pathogenic BRCA1/2 Variant Scheduling Risk-Reducing Salpingo-Oophorectomy. Cancer Prev Res (Phila). 2022 11 01; 15(11):721-726. View in: Pubmed

      • Differences in Cancer Phenotypes Among Frequent CHEK2 Variants and Implications for Clinical Care-Checking CHEK2. JAMA Oncol. 2022 11 01; 8(11):1598-1606. View in: Pubmed

      • Development and Validation of a Breast Cancer Polygenic Risk Score on the Basis of Genetic Ancestry Composition. JCO Precis Oncol. 2022 Nov; 6:e2200084. View in: Pubmed

      • Summary of the experiences, knowledge, medical management, and family communication of monoallelic MUTYH carriers. J Genet Couns. 2023 04; 32(2):342-350. View in: Pubmed

      • Overall survival in the OlympiA phase III trial of adjuvant olaparib in patients with germline pathogenic variants in BRCA1/2 and high-risk, early breast cancer. Ann Oncol. 2022 12; 33(12):1250-1268. View in: Pubmed

      • Copy number variants as modifiers of breast cancer risk for BRCA1/BRCA2 pathogenic variant carriers. Commun Biol. 2022 10 06; 5(1):1061. View in: Pubmed

      • Risks of breast and ovarian cancer for women harboring pathogenic missense variants in BRCA1 and BRCA2 compared with those harboring protein truncating variants. Genet Med. 2022 Oct; 24(10):2208. View in: Pubmed

      • Screening MRI Does Not Increase Cancer Detection or Result in an Earlier Stage at Diagnosis for Patients with High-Risk Breast Lesions: A Propensity Score Analysis. Ann Surg Oncol. 2022 Sep 28. View in: Pubmed

      • Twenty-year Outcomes of a Pediatric Chronic Abdominal Pain Cohort: Early Adulthood Health Status and Offspring Physical and Behavioral Health. J Pain. 2023 01; 24(1):145-156. View in: Pubmed

      • Universal Germline Genetic Testing for Hereditary Cancer Syndromes in Patients With Solid Tumor Cancer. JCO Precis Oncol. 2022 09; 6:e2100516. View in: Pubmed

      • Incidence of Germline Variants in Familial Bladder Cancer and Among Patients With Cancer Predisposition Syndromes. Clin Genitourin Cancer. 2022 Dec; 20(6):568-574. View in: Pubmed

      • An integrated somatic and germline approach to aid interpretation of germline variants of uncertain significance in cancer susceptibility genes. Front Oncol. 2022; 12:942741. View in: Pubmed

      • Development and Validation of the PREMMplus Model for Multigene Hereditary Cancer Risk Assessment. J Clin Oncol. 2022 12 10; 40(35):4083-4094. View in: Pubmed

      • Clonal Hematopoiesis and Mosaicism Revealed by a Multi-Tissue Analysis of Constitutional TP53 Status. Cancer Epidemiol Biomarkers Prev. 2022 08 02; 31(8):1621-1629. View in: Pubmed

      • Impact of Genetic Counseling on Patient-Reported Electronic Cancer Family History Collection. J Natl Compr Canc Netw. 2022 08; 20(8):898-905.e2. View in: Pubmed

      • Long-Term Adaptation Among Adolescent and Young Adult Children to Familial Cancer Risk. Pediatrics. 2022 08 01; 150(2). View in: Pubmed

      • Trajectories of positive and negative affect across adolescence: Maternal history of depression and adolescent sex as predictors. J Affect Disord. 2022 10 15; 315:96-104. View in: Pubmed

      • Effects of personalized depression prevention on anxiety through 18-month follow-up: A randomized controlled trial. Behav Res Ther. 2022 09; 156:104156. View in: Pubmed

      • Moderate penetrance genes complicate genetic testing for breast cancer diagnosis: ATM, CHEK2, BARD1 and RAD51D. Breast. 2022 Oct; 65:32-40. View in: Pubmed

      • An optimized protocol for evaluating pathogenicity of VHL germline variants in patients suspected with von Hippel-Lindau syndrome: Using somatic genome to inform the role of germline variants. MethodsX. 2022; 9:101761. View in: Pubmed

      • Reply to T. Ménard. JCO Precis Oncol. 2022 06; 6:e2200188. View in: Pubmed

      • Identification and Management of Pathogenic Variants in BRCA1, BRCA2, and PALB2 in a Tumor-Only Genomic Testing Program. Clin Cancer Res. 2022 06 01; 28(11):2349-2360. View in: Pubmed

      • A human breast atlas integrating single-cell proteomics and transcriptomics. Dev Cell. 2022 06 06; 57(11):1400-1420.e7. View in: Pubmed

      • The Development of Psychosocial Therapeutic and Preventive Interventions for Mental Disorders (R61/R33): A User's Guide. J Clin Child Adolesc Psychol. 2022 May-Jun; 51(3):360-373. View in: Pubmed

      • Prevalence of Germline Findings Among Tumors From Cancer Types Lacking Hereditary Testing Guidelines. JAMA Netw Open. 2022 05 02; 5(5):e2213070. View in: Pubmed

      • Correction: Polygenic risk modeling for prediction of epithelial ovarian cancer risk. Eur J Hum Genet. 2022 May; 30(5):630-631. View in: Pubmed

      • PARP inhibition in breast cancer: progress made and future hopes. NPJ Breast Cancer. 2022 Apr 08; 8(1):47. View in: Pubmed

      • Initiation and tolerance of chemoprevention among women with high-risk breast lesions: the potential of low-dose tamoxifen. Breast Cancer Res Treat. 2022 Jun; 193(2):417-427. View in: Pubmed

      • Germline pathogenic variants in cancer risk genes among patients with thyroid cancer and suspected predisposition. Cancer Med. 2022 04; 11(8):1745-1752. View in: Pubmed

      • Vulvar Melanoma in association with germline MITF p.E318K variant. Cancer Genet. 2022 04; 262-263:102-106. View in: Pubmed

      • Theory of mind performance in depression: A meta-analysis. J Affect Disord. 2022 04 15; 303:233-244. View in: Pubmed

      • Predictors of Sleep-Problem Trajectories Across Adolescence. Res Child Adolesc Psychopathol. 2022 07; 50(7):959-971. View in: Pubmed

      • Polygenic risk modeling for prediction of epithelial ovarian cancer risk. Eur J Hum Genet. 2022 03; 30(3):349-362. View in: Pubmed

      • Prevalence and spectrum of pathogenic variants among patients with multiple primary cancers evaluated by clinical characteristics. Cancer. 2022 03 15; 128(6):1275-1283. View in: Pubmed

      • Targeted BRCA1/2 population screening among Ashkenazi Jewish individuals using a web-enabled medical model: An observational cohort study. Genet Med. 2022 03; 24(3):564-575. View in: Pubmed

      • Internet-delivered cognitive behavioral therapy for youth with functional abdominal pain: a randomized clinical trial testing differential efficacy by patient subgroup. Pain. 2021 Dec 01; 162(12):2945-2955. View in: Pubmed

      • Assessment of genomic alterations in non-syndromic von Hippel-Lindau: Insight from integrating somatic and germline next generation sequencing genomic data. Data Brief. 2021 Dec; 39:107653. View in: Pubmed

      • Inherited TP53 Variants and Risk of Prostate Cancer. Eur Urol. 2022 Mar; 81(3):243-250. View in: Pubmed

      • Analysis of the Li-Fraumeni Spectrum Based on an International Germline TP53 Variant Data Set: An International Agency for Research on Cancer TP53 Database Analysis. JAMA Oncol. 2021 Dec 01; 7(12):1800-1805. View in: Pubmed

      • Risks of breast and ovarian cancer for women harboring pathogenic missense variants in BRCA1 and BRCA2 compared with those harboring protein truncating variants. Genet Med. 2022 01; 24(1):119-129. View in: Pubmed

      • Germline Testing Data Validate Inferences of Mutational Status for Variants Detected From Tumor-Only Sequencing. JCO Precis Oncol. 2021; 5. View in: Pubmed

      • Telephone versus in-person genetic counseling for hereditary cancer risk: Patient predictors of differential outcomes. J Telemed Telecare. 2024 Feb; 30(2):334-343. View in: Pubmed

      • Clinical Implications of Pathogenic Germline Variants in Small Intestine Neuroendocrine Tumors (SI-NETs). JCO Precis Oncol. 2021 11; 5:808-816. View in: Pubmed

      • Evaluation of TP53 Variants Detected on Peripheral Blood or Saliva Testing: Discerning Germline From Somatic TP53 Variants. JCO Precis Oncol. 2021 11; 5:1677-1686. View in: Pubmed

      • Clinicopathological features and BRCA1 and BRCA2 mutation status in a prospective cohort of young women with breast cancer. Br J Cancer. 2022 02; 126(2):302-309. View in: Pubmed

      • Pathogenicity of VHL variants in families with non-syndromic von Hippel-Lindau phenotypes: An integrated evaluation of germline and somatic genomic results. Eur J Med Genet. 2021 Dec; 64(12):104359. View in: Pubmed

      • Novel Models of Genetic Education and Testing for Pancreatic Cancer Interception: Preliminary Results from the GENERATE Study. Cancer Prev Res (Phila). 2021 11; 14(11):1021-1032. View in: Pubmed

      • Adjuvant Olaparib in BRCA-Mutated Breast Cancer. Reply. N Engl J Med. 2021 10 07; 385(15):1440. View in: Pubmed

      • The clinical and functional effects of TERT variants in myelodysplastic syndrome. Blood. 2021 09 09; 138(10):898-911. View in: Pubmed

      • Does Quantitative Sensory Testing Improve Prediction of Chronic Pain Trajectories? A Longitudinal Study of Youth With Functional Abdominal Pain Participating in a Randomized Controlled Trial of Cognitive Behavioral Treatment. Clin J Pain. 2021 09 01; 37(9):648-656. View in: Pubmed

      • Phase II trial of veliparib and temozolomide in metastatic breast cancer patients with and without BRCA1/2 mutations. Breast Cancer Res Treat. 2021 Oct; 189(3):641-651. View in: Pubmed

      • Challenges and Opportunities in Engaging Primary Care Providers in BRCA Testing: Results from the BFOR Study. J Gen Intern Med. 2022 06; 37(8):1862-1869. View in: Pubmed

      • Comprehensive Breast Cancer Risk Assessment for CHEK2 and ATM Pathogenic Variant Carriers Incorporating a Polygenic Risk Score and the Tyrer-Cuzick Model. JCO Precis Oncol. 2021 06; 5. View in: Pubmed

      • The predictive ability of the 313 variant-based polygenic risk score for contralateral breast cancer risk prediction in women of European ancestry with a heterozygous BRCA1 or BRCA2 pathogenic variant. Genet Med. 2021 09; 23(9):1726-1737. View in: Pubmed

      • Adjuvant Olaparib for Patients with BRCA1- or BRCA2-Mutated Breast Cancer. N Engl J Med. 2021 06 24; 384(25):2394-2405. View in: Pubmed

      • Author Correction: A case-only study to identify genetic modifiers of breast cancer risk for BRCA1/BRCA2 mutation carriers. Nat Commun. 2021 May 14; 12(1):2986. View in: Pubmed

      • The Influence of Vitamin D on Mammographic Density: Results from CALGB 70806 (Alliance) a Randomized Clinical Trial. Cancer Prev Res (Phila). 2021 07; 14(7):753-762. View in: Pubmed

      • Trans-ethnic variation in germline variants of patients with renal cell carcinoma. Cell Rep. 2021 03 30; 34(13):108926. View in: Pubmed

      • A case-only study to identify genetic modifiers of breast cancer risk for BRCA1/BRCA2 mutation carriers. Nat Commun. 2021 02 17; 12(1):1078. View in: Pubmed

      • Integrating Clinical and Polygenic Factors to Predict Breast Cancer Risk in Women Undergoing Genetic Testing. JCO Precis Oncol. 2021; 5. View in: Pubmed

      • Unexpected Pathogenic RET p.V804M Variant Leads to the Clinical Diagnosis and Management of Medullary Thyroid Carcinoma. Am J Case Rep. 2020 Dec 27; 21:e927415. View in: Pubmed

      • Targeting immunosuppressive macrophages overcomes PARP inhibitor resistance in BRCA1-associated triple-negative breast cancer. Nat Cancer. 2021 01; 2(1):66-82. View in: Pubmed

      • Ovarian and Breast Cancer Risks Associated With Pathogenic Variants in RAD51C and RAD51D. J Natl Cancer Inst. 2020 12 14; 112(12):1242-1250. View in: Pubmed

      • Novel Pathogenic Germline Variant of the Adenomatous Polyposis Coli (APC) Gene, p.S2627Gfs*12 Identified in a Mild Phenotype of APC-Associated Polyposis: A Case Report. Am J Case Rep. 2020 Dec 11; 21:e927293. View in: Pubmed

      • A Randomized Phase IIb Study of Low-dose Tamoxifen in Chest-irradiated Cancer Survivors at Risk for Breast Cancer. Clin Cancer Res. 2021 02 15; 27(4):967-974. View in: Pubmed

      • Subgroups of Pediatric Patients With Functional Abdominal Pain: Replication, Parental Characteristics, and Health Service Use. Clin J Pain. 2020 12; 36(12):897-906. View in: Pubmed

      • Embedding a genetic counselor into oncology clinics improves testing rates and timeliness for women with ovarian cancer. Gynecol Oncol. 2021 02; 160(2):457-463. View in: Pubmed

      • Personalized Depression Prevention: A Randomized Controlled Trial to Optimize Effects Through Risk-Informed Personalization. J Am Acad Child Adolesc Psychiatry. 2021 09; 60(9):1116-1126.e1. View in: Pubmed

      • Poly (ADP-Ribose) Polymerase Inhibitor Activity in Prostate Cancers Harboring Mutations in DNA Repair Genes: Who Benefits? JCO Precis Oncol. 2020 Nov; 4:1034-1037. View in: Pubmed

      • TBCRC 048: Phase II Study of Olaparib for Metastatic Breast Cancer and Mutations in Homologous Recombination-Related Genes. J Clin Oncol. 2020 12 20; 38(36):4274-4282. View in: Pubmed

      • 'Case of the Month' from Brigham and Women's Hospital, Boston, MA, USA: a 70-year-old man with lung cysts and bilateral renal masses. BJU Int. 2020 10; 126(4):428-432. View in: Pubmed

      • Association of germline variation with the survival of women with BRCA1/2 pathogenic variants and breast cancer. NPJ Breast Cancer. 2020 Sep 10; 6(1):44. View in: Pubmed

      • Association of germline variation with the survival of women with BRCA1/2 pathogenic variants and breast cancer. NPJ Breast Cancer. 2020; 6:44. View in: Pubmed

      • Informing models of cancer genetics care in the era of multigene panel testing with patient-led recommendations. J Genet Couns. 2021 02; 30(1):268-282. View in: Pubmed

      • Mutation Rates in Cancer Susceptibility Genes in Patients With Breast Cancer With Multiple Primary Cancers. JCO Precis Oncol. 2020; 4. View in: Pubmed

      • A pedigree-based prediction model identifies carriers of deleterious de novo mutations in families with Li-Fraumeni syndrome. Genome Res. 2020 08; 30(8):1170-1180. View in: Pubmed

      • Comparison of up-front cash cards and checks as incentives for participation in a clinician survey: a study within a trial. BMC Med Res Methodol. 2020 08 17; 20(1):210. View in: Pubmed

      • Risk for breast cancer and management of unaffected individuals with non-BRCA hereditary breast cancer. Breast J. 2020 08; 26(8):1528-1534. View in: Pubmed

      • A Rare TP53 Mutation Predominant in Ashkenazi Jews Confers Risk of Multiple Cancers. Cancer Res. 2020 09 01; 80(17):3732-3744. View in: Pubmed

      • Polygenic risk scores and breast and epithelial ovarian cancer risks for carriers of BRCA1 and BRCA2 pathogenic variants. Genet Med. 2020 10; 22(10):1653-1666. View in: Pubmed

      • Effects of an adolescent depression prevention program on maternal criticisms and positive remarks. J Fam Psychol. 2020 Dec; 34(8):927-937. View in: Pubmed

      • Histopathologic features of breast cancer in Li-Fraumeni syndrome. Mod Pathol. 2021 03; 34(3):542-548. View in: Pubmed

      • Association of a Polygenic Risk Score With Breast Cancer Among Women Carriers of High- and Moderate-Risk Breast Cancer Genes. JAMA Netw Open. 2020 07 01; 3(7):e208501. View in: Pubmed

      • Comorbid Sleep Disturbance in Adolescents with Functional Abdominal Pain. Behav Sleep Med. 2021 Jul-Aug; 19(4):471-480. View in: Pubmed

      • Suggested application of HER2+ breast tumor phenotype for germline TP53 variant classification within ACMG/AMP guidelines. Hum Mutat. 2020 09; 41(9):1555-1562. View in: Pubmed

      • Reply to S. Takamizawa et al. J Clin Oncol. 2020 08 10; 38(23):2700-2701. View in: Pubmed

      • Development and Validation of a Clinical Polygenic Risk Score to Predict Breast Cancer Risk. JCO Precis Oncol. 2020; 4. View in: Pubmed

      • Retinoblastoma protein expression and its predictors in triple-negative breast cancer. NPJ Breast Cancer. 2020 Jun 05; 6(1):19. View in: Pubmed

      • Retinoblastoma protein expression and its predictors in triple-negative breast cancer. NPJ Breast Cancer. 2020; 6:19. View in: Pubmed

      • E3 ligase RFWD3 is a novel modulator of stalled fork stability in BRCA2-deficient cells. J Cell Biol. 2020 06 01; 219(6). View in: Pubmed

      • Genome-wide association study identifies 32 novel breast cancer susceptibility loci from overall and subtype-specific analyses. Nat Genet. 2020 06; 52(6):572-581. View in: Pubmed

      • Randomized Phase IIB Trial of the Lignan Secoisolariciresinol Diglucoside in Premenopausal Women at Increased Risk for Development of Breast Cancer. Cancer Prev Res (Phila). 2020 07; 13(7):623-634. View in: Pubmed

      • Premenopausal Plasma Osteoprotegerin and Breast Cancer Risk: A Case-Control Analysis Nested within the Nurses' Health Study II. Cancer Epidemiol Biomarkers Prev. 2020 06; 29(6):1264-1270. View in: Pubmed

      • Organoid cultures from normal and cancer-prone human breast tissues preserve complex epithelial lineages. Nat Commun. 2020 04 06; 11(1):1711. View in: Pubmed

      • NCCN Guidelines Insights: Genetic/Familial High-Risk Assessment: Breast, Ovarian, and Pancreatic, Version 1.2020. J Natl Compr Canc Netw. 2020 04; 18(4):380-391. View in: Pubmed

      • Li-Fraumeni Exploration Consortium Data Coordinating Center: Building an Interactive Web-Based Resource for Collaborative International Cancer Epidemiology Research for a Rare Condition. Cancer Epidemiol Biomarkers Prev. 2020 05; 29(5):927-935. View in: Pubmed

      • Transcriptome-wide association study of breast cancer risk by estrogen-receptor status. Genet Epidemiol. 2020 07; 44(5):442-468. View in: Pubmed

      • TBCRC 031: Randomized Phase II Study of Neoadjuvant Cisplatin Versus Doxorubicin-Cyclophosphamide in Germline BRCA Carriers With HER2-Negative Breast Cancer (the INFORM trial). J Clin Oncol. 2020 05 10; 38(14):1539-1548. View in: Pubmed

      • Fine-mapping of 150 breast cancer risk regions identifies 191 likely target genes. Nat Genet. 2020 01; 52(1):56-73. View in: Pubmed

      • Prevalence of pathogenic germline cancer risk variants in high-risk urothelial carcinoma. Genet Med. 2020 04; 22(4):709-718. View in: Pubmed

      • Cancer Risks Associated With Germline PALB2 Pathogenic Variants: An International Study of 524 Families. J Clin Oncol. 2020 03 01; 38(7):674-685. View in: Pubmed

      • Association of Tumor-Infiltrating Lymphocytes with Homologous Recombination Deficiency and BRCA1/2 Status in Patients with Early Triple-Negative Breast Cancer: A Pooled Analysis. Clin Cancer Res. 2020 06 01; 26(11):2704-2710. View in: Pubmed

      • The FANCM:p.Arg658* truncating variant is associated with risk of triple-negative breast cancer. NPJ Breast Cancer. 2019; 5:38. View in: Pubmed

      • Patterns of recurrence and metastasis in BRCA1/BRCA2-associated breast cancers. Cancer. 2020 01 15; 126(2):271-280. View in: Pubmed

      • One step forward, two steps backward. Genet Med. 2020 02; 22(2):441-442. View in: Pubmed

      • Publisher Correction: Shared heritability and functional enrichment across six solid cancers. Nat Commun. 2019 Sep 23; 10(1):4386. View in: Pubmed

      • Li-Fraumeni syndrome: not a straightforward diagnosis anymore-the interpretation of pathogenic variants of low allele frequency and the differences between germline PVs, mosaicism, and clonal hematopoiesis. Breast Cancer Res. 2019 09 18; 21(1):107. View in: Pubmed

      • Perturbed myoepithelial cell differentiation in BRCA mutation carriers and in ductal carcinoma in situ. Nat Commun. 2019 09 13; 10(1):4182. View in: Pubmed

      • Use of Endocrine Therapy for Breast Cancer Risk Reduction: ASCO Clinical Practice Guideline Update. J Clin Oncol. 2019 11 20; 37(33):3152-3165. View in: Pubmed

      • Incidental breast carcinoma: incidence, management, and outcomes in 4804 bilateral reduction mammoplasties. Breast Cancer Res Treat. 2019 Oct; 177(3):741-748. View in: Pubmed

      • BRCA1 and BRCA2 pathogenic sequence variants in women of African origin or ancestry. Hum Mutat. 2019 10; 40(10):1781-1796. View in: Pubmed

      • Genetic testing for hereditary breast and ovarian cancer and the USPSTF recommendations. Breast J. 2019 07; 25(4):575-577. View in: Pubmed

      • Genetic Testing for Breast Cancer Susceptibility Should Be Offered before Unilateral Abdominally Based Free Flap Breast Reconstruction. Plast Reconstr Surg. 2019 07; 144(1):12-20. View in: Pubmed

      • Mendelian randomisation study of height and body mass index as modifiers of ovarian cancer risk in 22,588 BRCA1 and BRCA2 mutation carriers. Br J Cancer. 2019 07; 121(2):180-192. View in: Pubmed

      • Genotype-phenotype associations among panel-based TP53+ subjects. Genet Med. 2019 11; 21(11):2478-2484. View in: Pubmed

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      • Quality or quantity in the management of hereditary ovarian cancer risk: Is it really a trade-off? J Clin Oncol. 2005 Oct 01; 23(28):6817-9. View in: Pubmed

      • Age at menarche and the risk of breast cancer in BRCA1 and BRCA2 mutation carriers. Cancer Causes Control. 2005 Aug; 16(6):667-74. View in: Pubmed

      • The role of social stressors and interpersonal orientation in explaining the longitudinal relation between externalizing and depressive symptoms. J Abnorm Psychol. 2005 Aug; 114(3):432-43. View in: Pubmed

      • Sex ratio distortion in offspring of families with BRCA1 or BRCA2 mutant alleles: an ascertainment bias phenomenon? Breast Cancer Res Treat. 2005 Aug; 92(3):273-7. View in: Pubmed

      • A HIF1alpha regulatory loop links hypoxia and mitochondrial signals in pheochromocytomas. PLoS Genet. 2005 Jul; 1(1):72-80. View in: Pubmed

      • Testing a model of pain appraisal and coping in children with chronic abdominal pain. Health Psychol. 2005 Jul; 24(4):364-74. View in: Pubmed

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      • Factor V Leiden (FVL) mutations and thromboembolic events (TE) in women with breast cancer on adjuvant tamoxifen. J Clin Oncol. 2005 Jun; 23(16_suppl):508. View in: Pubmed

      • Ductal lavage of fluid-yielding and non-fluid-yielding ducts in BRCA1 and BRCA2 mutation carriers and other women at high inherited breast cancer risk. Cancer Epidemiol Biomarkers Prev. 2005 May; 14(5):1082-9. View in: Pubmed

      • Familial gastrointestinal stromal tumor syndrome: phenotypic and molecular features in a kindred. J Clin Oncol. 2005 Apr 20; 23(12):2735-43. View in: Pubmed

      • The relations among maternal depression, maternal criticism, and adolescents' externalizing and internalizing symptoms. J Abnorm Child Psychol. 2005 Feb; 33(1):1-11. View in: Pubmed

      • Hereditary cancer predisposition syndromes. J Clin Oncol. 2005 Jan 10; 23(2):276-92. View in: Pubmed

      • Resting frontal brain activity: linkages to maternal depression and socio-economic status among adolescents. Biol Psychol. 2004 Oct; 67(1-2):77-102. View in: Pubmed

      • Cancer prevention and the American Society of Clinical Oncology. J Clin Oncol. 2004 Oct 01; 22(19):3848-51. View in: Pubmed

      • Breast-feeding and the risk of breast cancer in BRCA1 and BRCA2 mutation carriers. J Natl Cancer Inst. 2004 Jul 21; 96(14):1094-8. View in: Pubmed

      • A randomized trial of two different genetic counseling interventions for BRCA1/2 genetic testing. J Clin Oncol. 2004 Jul 15; 22(14_suppl):1002. View in: Pubmed

      • A feasibility study of tamoxifen chemoprevention in Hodgkin's disease (HD) survivors. J Clin Oncol. 2004 Jul 15; 22(14_suppl):8551. View in: Pubmed

      • Communication of BRCA1/2 test results to first-degree relatives (FDRs): Factors predicting who women tell. J Clin Oncol. 2004 Jul 15; 22(14_suppl):1010. View in: Pubmed

      • P27 and pAKT Expression in BRCA1-associated and sporadic breast tumors. J Clin Oncol. 2004 Jul 15; 22(14_suppl):9609. View in: Pubmed

      • Comparison of complementary medicine use at genetic testing program enrollment and one-year following results disclosure. J Clin Oncol. 2004 Jul 15; 22(14_suppl):1013. View in: Pubmed

      • The relations among depression in fathers, children's psychopathology, and father-child conflict: a meta-analysis. Clin Psychol Rev. 2004 Jul; 24(3):339-60. View in: Pubmed

      • Comparison of motivations and concerns for genetic testing in hereditary colorectal and breast cancer syndromes. J Med Genet. 2004 Apr; 41(4):e44. View in: Pubmed

      • Clinical presentation correlates with the type of mismatch repair gene involved in hereditary nonpolyposis colon cancer. Gastroenterology. 2004 Mar; 126(3):936-7. View in: Pubmed

      • Prophylactic oophorectomy and hormone replacement therapy: protection at what price? J Clin Oncol. 2004 Mar 15; 22(6):978-80. View in: Pubmed

      • Bilateral prophylactic mastectomy reduces breast cancer risk in BRCA1 and BRCA2 mutation carriers: the PROSE Study Group. J Clin Oncol. 2004 Mar 15; 22(6):1055-62. View in: Pubmed

      • One less thing to worry about: the shrinking spectrum of tumors in BRCA founder mutation carriers. J Natl Cancer Inst. 2004 Jan 07; 96(1):2-3. View in: Pubmed

      • Accuracy of cancer family histories: comparison of two breast cancer syndromes. Genet Test. 2004; 8(3):222-8. View in: Pubmed

      • Cancer variation associated with the position of the mutation in the BRCA2 gene. Fam Cancer. 2004; 3(1):1-10. View in: Pubmed

      • Progress in the management of gynecologic cancer: consensus summary statement. J Clin Oncol. 2003 May 15; 21(10 Suppl):129s-132s. View in: Pubmed

      • Relation of intelligence and religiosity to depressive disorders in offspring of depressed and nondepressed mothers. J Am Acad Child Adolesc Psychiatry. 2003 May; 42(5):578-86. View in: Pubmed

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      • Cancer surveillance is often inadequate in people at high risk for colorectal cancer. J Med Genet. 2003 May; 40(5):e54. View in: Pubmed

      • Male patients with diagnoses of both breast cancer and prostate cancer. Breast J. 2003 May-Jun; 9(3):208-12. View in: Pubmed

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      • Mothers depression in early childhood increases the risk of adolescent anxiety and depression. Evid Based Ment Health. 2003 Feb; 6(1):15. View in: Pubmed

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      • BRCAPRO validation, sensitivity of genetic testing of BRCA1/BRCA2, and prevalence of other breast cancer susceptibility genes. J Clin Oncol. 2002 Jun 01; 20(11):2701-12. View in: Pubmed

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      • Serum CTX: a new marker of bone resorption that shows treatment effect more often than other markers because of low coefficient of variability and large changes with bisphosphonate therapy. Calcif Tissue Int. 2000 Feb; 66(2):100-3. View in: Pubmed

      • Prevalence of germline truncating mutations in ATM in women with a second breast cancer after radiation therapy for a contralateral tumor. Genes Chromosomes Cancer. 2000 Feb; 27(2):124-9. View in: Pubmed

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      • Germline mutations in PTEN are an infrequent cause of genetic predisposition to breast cancer. Oncogene. 1998 Aug 13; 17(6):727-31. View in: Pubmed

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