Research Topics
Genomes and GenesSpecies | Mark H GreeneSummaryAffiliation: National Institutes of Health Country: USA Publications
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Publications
Common breast cancer susceptibility alleles are associated with tumour subtypes in BRCA1 and BRCA2 mutation carriers: results from the Consortium of Investigators of Modifiers of BRCA1/2Anna Marie Mulligan
Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, 2 Worts Causeway, Cambridge, CB1 8RN, UK
Breast Cancer Res 13:R110. 2011..It is currently unknown how these alleles are associated with different breast cancer subtypes in BRCA1 and BRCA2 mutation carriers defined by estrogen (ER) or progesterone receptor (PR) status of the tumour...- Factors associated with testicular self-examination among unaffected men from multiple-case testicular cancer familiesSusan T Vadaparampil
Division of Population Sciences, Moffitt Cancer Center, Tampa, Flordia, USA
Hered Cancer Clin Pract 7:11. 2009..Our data provide a basis for further exploring psychosocial issues that are specific to men with a family history of TC, and formulating intervention strategies aimed at improving adherence to TSE guidelines... - A prospective study of risk-reducing salpingo-oophorectomy and longitudinal CA-125 screening among women at increased genetic risk of ovarian cancer: design and baseline characteristics: a Gynecologic Oncology Group studyMark H Greene
Clinical Genetics Branch, National Cancer Institute, 6120 Executive Boulevard, Room EPS 7032, Rockville, MD 20852, USA
Cancer Epidemiol Biomarkers Prev 17:594-604. 2008..We developed a collaboration among the Clinical Genetics Branch (National Cancer Institute's Intramural Research Program), the Gynecologic Oncology Group (GOG), and the Cancer Genetics Network to address these issues... - Familial testicular germ cell tumors in adults: 2010 summary of genetic risk factors and clinical phenotypeMark H Greene
Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, Bethesda, Maryland 20852, USA
Endocr Relat Cancer 17:R109-21. 2010..All five loci are involved in normal testicular development and/or male infertility. These genetic data provide a novel insight into the genetic basis of FTGCT, and an invaluable guide to future TGCT research... - Confirmation of family cancer history reported in a population-based surveyPhuong L Mai
Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, 6120 Executive Blvd, EPS 7022, Rockville Pike, Bethesda, MD 20852, USA
J Natl Cancer Inst 103:788-97. 2011..However, it is not clear if reported family cancer history is sufficiently accurate for this purpose... - The BRCA1 Ashkenazi founder mutations occur on common haplotypes and are not highly correlated with anonymous single nucleotide polymorphisms likely to be used in genome-wide case-control association studiesLutecia H Mateus Pereira
Laboratory of Population Genetics, National Cancer Institute, Bethesda, MD 20892, USA
BMC Genet 8:68. 2007..We evaluated LD using pairwise and haplotype-based methods, and assessed correlation of SNPs with the founder mutations using Pearson's correlation coefficient... - BRCA mutation-negative women from hereditary breast and ovarian cancer families: a qualitative study of the BRCA-negative experienceAlexis D Bakos
Department of Health and Human Services, National Institute of Nursing Research, NIH, Rockville, MD, USA
Health Expect 11:220-31. 2008..This study was designed to explore cancer risk perception and the experience of being a mutation-negative woman within a known BRCA1/2 mutation-positive family... - Malignancies and survival patterns in the National Cancer Institute inherited bone marrow failure syndromes cohort studyBlanche P Alter
Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, Rockville, MD 20852 7231, USA
Br J Haematol 150:179-88. 2010..The findings demonstrate that both FA and DC are major cancer susceptibility syndromes. The IBMFS, historically considered paediatric disorders, have important management implications for physicians treating adult patients... - Tolerability of breast ductal lavage in women from families at high genetic risk of breast cancerJennifer T Loud
Clinical Genetics Branch, National Cancer Institute, NIH, Rockville, MD, USA
BMC Womens Health 9:20. 2009..We report DL tolerability in BRCA1/2 mutation-positive and -negative women from an IRB-approved research study... 
Prophylactic oophorectomy reduces breast cancer penetrance during prospective, long-term follow-up of BRCA1 mutation carriersJoan L Kramer
Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, 6120 Executive Blvd, Room 7016, MSC 7231, Rockville, MD 20852, USA
J Clin Oncol 23:8629-35. 2005..Because prophylactic oophorectomy reduces breast cancer risk by approximately 50%, we hypothesized that population differences in oophorectomy prevalence might significantly influence breast cancer penetrance estimates...- Risk of cancer in first- and second-degree relatives of testicular germ cell tumor cases and controlsVictoria M Chia
Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Department of Health and Human Services, Bethesda, MD, USA
Int J Cancer 124:952-7. 2009..69, 95% CI: 0.51-0.94). Thus, this study suggests that there may be aggregation of cancer among families of men diagnosed with TGCT... - Haplotype structure in Ashkenazi Jewish BRCA1 and BRCA2 mutation carriersKate M Im
Center for Cancer Research, Cancer Inflammation Program, Human Genetics Section, National Cancer Institute, Frederick, MD, USA
Hum Genet 130:685-99. 2011.... - Sisters in hereditary breast and ovarian cancer families: communal coping, social integration, and psychological well-beingLaura M Koehly
Social and Behavioral Research Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA
Psychooncology 17:812-21. 2008..We investigated the association between psychological distress and indices of social integration and communal coping among sisters from hereditary breast and ovarian cancer (HBOC) families... - Complementary and alternative medicine use among women at increased genetic risk of breast and ovarian cancerChristine M Mueller
Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Bethesda, Maryland, USA
BMC Complement Altern Med 8:17. 2008..Complementary and alternative medicine (CAM) use is well documented among breast cancer patients and survivors, but little evidence is available to describe rates and patterns of use among women at increased genetic risk of breast cancer... - Characteristics of health information gatherers, disseminators, and blockers within families at risk of hereditary cancer: implications for family health communication interventionsLaura M Koehly
Social and Behavioral Research Branch, National Human Genome Research Institute, National Institutes of Health, Department of Health and Human Services, Building 31, Room B1B37D, 31 Center Drive MSC 2073, Bethesda, MD 20892, USA
Am J Public Health 99:2203-9. 2009..Given the importance of the dissemination of accurate family history to assess disease risk, we characterized the gatherers, disseminators, and blockers of health information within families at high genetic risk of cancer... - Testicular cancer and genetics knowledge among familial testicular cancer family membersJune A Peters
Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Department of Health and Human Services, 6120 Executive Blvd, EPS 7026, Rockville, MD 20852, USA
J Genet Couns 17:351-64. 2008..It was our aim to determine baseline levels of testicular cancer and genetics knowledge among members of families with Familial Testicular Cancer (FTC)... - Ductal lavage in women from BRCA1/2 families: is there a future for ductal lavage in women at increased genetic risk of breast cancer?Jennifer T Loud
Division of Cancer Epidemiology and Genetics, National Cancer Institute, NIH, Rockville, MD 20852, USA
Cancer Epidemiol Biomarkers Prev 18:1243-51. 2009..Little is known about patient characteristics associated with obtaining nipple aspirate fluid (NAF) and adequate cell counts (> or =10 cells) in ductal lavage specimens from BRCA mutation carriers... - Breast-cancer risk in BRCA-mutation-negative women from BRCA-mutation-positive familiesHormuzd A Katki
Biostatistics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, Bethesda, MD, USA
Lancet Oncol 8:1042-3. 2007 - Cancer risk among patients with myotonic muscular dystrophyShahinaz M Gadalla
Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, 6120 Executive Blvd, Rockville, MD 20892, USA
JAMA 306:2480-6. 2011..Case reports have suggested that MMD patients may be at increased risk of malignancy, putative risks that have never been quantified... - A mini-review of familial ovarian germ cell tumors: an additional manifestation of the familial testicular germ cell tumor syndromeClaudia Giambartolomei
Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, Rockville, MD 20852, USA
Cancer Epidemiol 33:31-6. 2009..In this paper, we investigate the familial occurrence of testicular and ovarian germ cell tumors... - Potential usefulness of single nucleotide polymorphisms to identify persons at high cancer risk: an evaluation of seven common cancersJu Hyun Park
National Cancer Institute, Rockville, MD 20852 7244, USA
J Clin Oncol 30:2157-62. 2012..To estimate the likely number and predictive strength of cancer-associated single nucleotide polymorphisms (SNPs) that are yet to be discovered for seven common cancers... - Competing risks analysis of correlated failure time dataBingshu E Chen
Biostatistics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, Rockville, MD 20852, USA
Biometrics 64:172-9. 2008..For women with BRCA1 mutations, we estimate the cumulative incidence of breast cancer in the presence of competing mortality from ovarian cancer, accounting for significant within-family correlation... - Mammographic density does not differ between unaffected BRCA1/2 mutation carriers and women at low-to-average risk of breast cancerGretchen L Gierach
Hormonal and Reproductive Epidemiology Branch, Division of Cancer Epidemiology and Genetics, Office of Preventive Oncology, National Cancer Institute, National Institutes of Health, Bethesda, MD, USA
Breast Cancer Res Treat 123:245-55. 2010..Taking these factors into account did not significantly alter the results of the age/body mass index-adjusted analysis. Our results do not provide support for an independent effect of BRCA1/2 mutation status on mammographic density... - Ovarian cancer screening in women with a family history of breast or ovarian cancerJames V Lacey
Division of Cancer Epidemiology and Genetics, National Cancer Institute, Bethesda, Maryland 20892, USA
Obstet Gynecol 108:1176-84. 2006..To evaluate positive predictive values of CA 125 or transvaginal ultrasonography screening for ovarian cancer according to family history of breast or ovarian cancer... - Variants in or near KITLG, BAK1, DMRT1, and TERT-CLPTM1L predispose to familial testicular germ cell tumourChristian P Kratz
Division of CancerEpidemiology and Genetics, National Cancer Institute, National Institutes of Health, Rockville, Maryland 20852, USA
J Med Genet 48:473-6. 2011..Familial testicular germ cell tumours (TGCTs) and bilateral TGCTs comprise 1-2% and 5% of all TGCTs, respectively, but their genetic basis remains largely unknown... - Unpacking the blockers: understanding perceptions and social constraints of health communication in hereditary breast ovarian cancer (HBOC) susceptibility familiesJune A Peters
Clinical Genetics Branch CGB, Division of Cancer Epidemiology and Genetics DCEG, National Cancer Institute NCI, National Institutes of Health NIH, Department of Health and Human Services DHHS, Rockville, MD 20852, USA
J Genet Couns 20:450-64. 2011..Blocking often seemed to involve bi-directional feedback loops, in keeping with Lepore's Social Constraints and Modulation Theory. Privacy and protectiveness predominated as explanations for long-term blocking... - Constitutional cytogenetic analysis in men with hereditary testicular germ cell tumor: no evidence of disease-related abnormalitiesChristine M Mueller
Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, NIH, Department of Health and Human Services, 6120 Executive Boulevard, EPS 7101, Rockville, MD 20852-7231, USA
Cancer Epidemiol Biomarkers Prev 16:2791-4. 2007 - The International Testicular Cancer Linkage Consortium: a clinicopathologic descriptive analysis of 461 familial malignant testicular germ cell tumor kindredPhuong L Mai
Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, Rockville, MD 20852, USA
Urol Oncol 28:492-9. 2010..Here we describe a collection of familial TGCT cases from an international consortium, in an effort to elucidate any clinical characteristics that are specific to this population... - Evolution of the colored eco-genetic relationship map (CEGRM) for assessing social functioning in women in hereditary breast-ovarian (HBOC) familiesJune A Peters
Clinical Genetics Branch CGB, Division of Cancer Epidemiology and Genetics DCEG, National Cancer Institute NCI, National Institutes of Health NIH, Department of Health and Human Services DHHS, Rockville, MD 20852, USA
J Genet Couns 15:477-89. 2006.... - LINE-1 methylation is inherited in familial testicular cancer kindredsLisa Mirabello
Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Department of Health and Human Services, Bethesda, Maryland, USA
BMC Med Genet 11:77. 2010..Global DNA hypomethylation has been associated with the risk of cancers of the bladder and head/neck... 
Toward a new understanding of risk perception among young female BRCA1/2 "previvors"Lindsey M Hoskins
National Cancer Institute, National Institutes of Health, Rockville, MD, USA
Fam Syst Health 30:32-46. 2012..Here we present data from our qualitative research to aid in this effort...- Familial testicular cancer: interest in genetic testing among high-risk family membersJune A Peters
Clinical Genetics Branch CGB, Division of Cancer Epidemiology and Genetics DCEG, National Cancer Institute NCI, National Institutes of Health NIH, DHHS, Rockville, Maryland 20852, USA
Genet Med 8:760-70. 2006..The current report targets interest in clinical genetic testing for susceptibility to FTC... - Exploratory study of the feasibility and utility of the colored eco-genetic relationship map (CEGRM) in women at high genetic risk of developing breast cancerJune A Peters
Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Department of Health and Human Services, Rockville, Maryland 20852, USA
Am J Med Genet A 130:258-64. 2004..In this clinical research context, the participants felt free to share poignant stories about their friends and families. Further studies are planned to refine the CEGRM and to examine its utility in cancer genetics research... - Younger age-at-diagnosis for familial malignant testicular germ cell tumorPhuong L Mai
Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, Rockville, MA 20852, USA
Fam Cancer 8:451-6. 2009..The younger age at diagnosis might be suggestive of a genetic basis for familial TGCT... - BRCA1 and sex ratioJeffery P Struewing
Laboratory of Population Genetics, Center for Cancer Research, National Cancer Institute, National Institutes of Health, Bethesda, MD 20892 5060, USA
Eur J Hum Genet 12:663-7. 2004..Nonetheless, these observations do not support the idea that BRCA1 mutation carriers have a lower ratio of male offspring than BRCA2 mutation carriers... - Family history of breast cancer as a risk factor for ovarian cancer in a prospective studyNeely Kazerouni
Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Rockville, Maryland 20852-7234, USA
Cancer 107:1075-83. 2006..2; 95% CI = 1.7-10). CONCLUSIONS: A detailed breast cancer family history as well as an individual's age and personal history of breast cancer are useful for identifying women at elevated genetic risk of ovarian cancer... - A possible new syndrome with growth-hormone secreting pituitary adenoma, colonic polyposis, lipomatosis, lentigines and renal carcinoma in association with familial testicular germ cell malignancy: A case reportPhuong L Mai
Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Bethesda, Maryland, USA
J Med Case Reports 1:9. 2007..Familial testicular cancer in the presence of other findings in affected and unaffected family members might indicate a previously-unidentified hereditary cancer syndrome... - Deliberate deceit of family members: a challenge to providers of clinical genetics servicesJennifer T Loud
Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Department of Health and Human Services; Food and Drug Administration, Rockville, MD 20853-7231, USA
J Clin Oncol 24:1643-6. 2006 - Coherence and completeness of population-based family cancer reportsLouise Wideroff
National Cancer Institute, Bethesda, Maryland, USA
Cancer Epidemiol Biomarkers Prev 19:799-810. 2010..Given its widespread use in cancer screening and surveillance, better information is needed about the clarity and accuracy of family history information reported in the general population... - Li-Fraumeni syndrome: report of a clinical research workshop and creation of a research consortiumPhuong L Mai
Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Bethesda, Maryland, USA
Cancer Genet 205:479-87. 2012..This workshop also led to the creation of the Li-Fraumeni Exploration (LiFE) Research Consortium... - Mutational analysis of the BRCA1-interacting genes ZNF350/ZBRK1 and BRIP1/BACH1 among BRCA1 and BRCA2-negative probands from breast-ovarian cancer families and among early-onset breast cancer cases and reference individualsJoni L Rutter
Laboratory of Population Genetics, Center for Cancer Research, National Cancer Institute, Bethesda, Maryland
Hum Mutat 22:121-8. 2003..Further analysis in unselected cases will be required to know whether the identified variants play a role in genetic predisposition to breast cancer in the general population. Hum Mutat 22:121-128, 2003. Published 2003 Wiley-Liss, Inc... - Serum IGF1, IGF2 and IGFBP3 and risk of advanced colorectal adenomaYing Gao
Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Bethesda, MD 20892 7236, USA
Int J Cancer 131:E105-13. 2012..Our analysis showed a significant positive association between circulating IGF1 levels and risk of advanced colorectal adenoma, suggesting that IGF1 is associated with the pivotal precursor to colorectal cancer... - Detectable clonal mosaicism and its relationship to aging and cancerKevin B Jacobs
Division of Cancer Epidemiology and Genetics, National Cancer Institute NCI, Rockville, Maryland, USA
Nat Genet 44:651-8. 2012..4; P = 3.8 × 10(-11)). These findings underscore the time-dependent nature of somatic events in the etiology of cancer and potentially other late-onset diseases... - Functional phosphodiesterase 11A mutations may modify the risk of familial and bilateral testicular germ cell tumorsAnelia Horvath
Program on Developmental Endocrinology and Genetics, Eunice Kennedy Shriver National Institute of Child Health and Human Development, NIH, 10 Center Drive, CRC, Room 1 3330, Bethesda, MD 20892, USA
Cancer Res 69:5301-6. 2009..In conclusion, we report that PDE11A-inactivating sequence variants may modify the risk of familial and bilateral TGCT... - Familial and genetic risk of transitional cell carcinoma of the urinary tractChristine M Mueller
Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health DHHS, Rockville, MD 20852, USA
Urol Oncol 26:451-64. 2008.... - Familial testicular germ cell tumoursChristian P Kratz
Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, Bethesda, MD 20852, USA
Best Pract Res Clin Endocrinol Metab 24:503-13. 2010..Notably, all five loci are involved in the biology of primordial germ cells, representing the cell of origin of TGCT, suggesting that the tumours arise as a result of disturbed testicular development... - Does bilateral salpingectomy with ovarian retention warrant consideration as a temporary bridge to risk-reducing bilateral oophorectomy in BRCA1/2 mutation carriers?Mark H Greene
Division of Cancer Epidemiology and Genetics, Clinical Genetics Branch, National Cancer Institute, Rockville, MD, USA
Am J Obstet Gynecol 204:19.e1-6. 2011.... - Close ties: an exploratory Colored Eco-Genetic Relationship Map (CEGRM) study of social connections of men in Familial Testicular Cancer (FTC) familiesJune A Peters
Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, US Department of Health and Human Services, 6120 Executive Blvd, Rockville, MD, 20852 USA
Hered Cancer Clin Pract 10:2. 2012..abstract:.. - Association between BRCA1 and BRCA2 mutations and survival in women with invasive epithelial ovarian cancerKelly L Bolton
Division of Cancer Epidemiology and Genetics, National Cancer Institute, Bethesda, Maryland, USA
JAMA 307:382-90. 2012..A recent article suggested that BRCA2-related EOC was associated with an improved prognosis, but the effect of BRCA1 remains unclear... - Promoter methylation of candidate genes associated with familial testicular cancerLisa Mirabello
Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Department of Health and Human Services Bethesda, Maryland, USA
Int J Mol Epidemiol Genet 3:213-27. 2012..Our results suggest that familial TGCT susceptibility may be associated with promoter methylation of previously-identified TGCT risk-modifying genes. Larger studies are warranted... - Tumor suppressor BRCA1 epigenetically controls oncogenic microRNA-155Suhwan Chang
Mouse Cancer Genetics Program, Center for Cancer Research, National Cancer Institute at Frederick, Frederick, Maryland, USA
Nat Med 17:1275-82. 2011..Our findings demonstrate a new mode of tumor suppression by BRCA1 and suggest that miR-155 is a potential therapeutic target for BRCA1-deficient tumors... - Cancer survivorship--genetic susceptibility and second primary cancers: research strategies and recommendationsLois B Travis
Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Department of Health and Human Services, Bethesda, MD 20892, USA
J Natl Cancer Inst 98:15-25. 2006..These research areas warrant high priority to promote NCI's goal of eliminating pain and suffering related to cancer... - Challenges related to developing serum-based biomarkers for early ovarian cancer detectionPhuong L Mai
Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, NIH, Bethesda, Maryland, USA
Cancer Prev Res (Phila) 4:303-6. 2011.... - Cancer incidence in persons with Fanconi anemiaPhilip S Rosenberg
Biostatistics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, Bethesda, MD, USA
Blood 101:822-6. 2003..The risk of a solid tumor may become even higher as death from aplastic anemia is reduced and as patients survive longer after BMT... - Hypothesis: neoplasms in myotonic dystrophyChristine M Mueller
Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health DHHS, 6120 Executive Boulevard, EPS 7101, Rockville, MD 20852 7231, USA
Cancer Causes Control 20:2009-20. 2009..We hope to stimulate further study into the potential role of DM genes in tumorigenesis, and help define DM pathogenesis, and facilitate developing novel treatment modalities... - Anticipatory Loss and Early Mastectomy for Young Female BRCA1/2 Mutation CarriersLindsey M Hoskins
1National Institutes of Health, Rockville, Maryland, USA
Qual Health Res 22:1633-46. 2012.... - Dyskeratosis congenita: the first NIH clinical research workshopSharon A Savage
Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Rockville, Maryland 20892, USA
Pediatr Blood Cancer 53:520-3. 2009..dcoutreach.com/). Ongoing, open collaboration between the clinical, scientific, and family communities is required for continued improvement in our understanding of DC and the clinical consequences of telomeric defects...