Genomes and Genes
hereditary neoplastic syndromes
Summary: The condition of a pattern of malignancies within a family, but not every individual's necessarily having the same neoplasm. Characteristically the tumor tends to occur at an earlier than average age, individuals may have more than one primary tumor, the tumors may be multicentric, usually more than 25 percent of the individuals in direct lineal descent from the proband are affected, and the cancer predisposition in these families behaves as an autosomal dominant trait with about 60 percent penetrance.
Publications219 found, 100 shown here
- Contributions of ATM mutations to familial breast and ovarian cancerYvonne R Thorstenson
Stanford Genome Technology Center, Palo Alto, California 94304 1103, USA
Cancer Res 63:3325-33. 2003..This study indicates that there is a significant prevalence of ATM mutations in breast and ovarian cancer families and adds to a growing body of evidence that ATM mutations confer increased susceptibility to breast cancer...
- Quantification of epigenetic and genetic 2nd hits in CDH1 during hereditary diffuse gastric cancer syndrome progressionCarla Oliveira
Institute of Molecular Pathology and Immunology, University of Porto IPATIMUP, Porto, Portugal
Gastroenterology 136:2137-48. 2009..We quantified the different 2nd hits in CDH1 occurring in neoplastic lesions from HDGC patients...
- Evidence of increased microvessel density and activation of the hypoxia pathway in tumours from the hereditary leiomyomatosis and renal cell cancer syndromePatrick Pollard
Molecular and Population Genetics Laboratory, Cancer Research UK, 44 Lincoln s Inn Fields, London WC2A 3PX, UK
J Pathol 205:41-9. 2005....
- Fumarate hydratase enzyme activity in lymphoblastoid cells and fibroblasts of individuals in families with hereditary leiomyomatosis and renal cell cancerM Pithukpakorn
J Med Genet 43:755-62. 2006..Hereditary leiomyomatosis and renal cell cancer (HLRCC) is the autosomal dominant heritable syndrome with predisposition to development of renal cell carcinoma and smooth muscle tumours of the skin and uterus...
- Evaluation and management of renal tumors in the Birt-Hogg-Dubé syndromeChristian P Pavlovich
Urologic Oncology Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute and Basic Research Program, SAIC Frederick, Inc, Frederick, Maryland, USA
J Urol 173:1482-6. 2005..Herein we describe the evaluation and management of renal tumors in Birt-Hogg-Dubé (BHD), an autosomal dominant disorder predisposing to cutaneous fibrofolliculomas, pulmonary cysts, spontaneous pneumothorax and renal tumors...
- The genetic basis of cancer of the kidneyW Marston Linehan
Urologic Oncology Branch, Center for Cancer Research, National Cancer Institute, Bethesda, Maryland 20892, USA
J Urol 170:2163-72. 2003..We identified the genetic basis of these different types of kidney cancer to provide better methods for early diagnosis of this disease as well as provide the foundation for the development of molecular therapeutic approaches...
- Chromoendoscopic surveillance in hereditary diffuse gastric cancer: an alternative to prophylactic gastrectomy?D Shaw
Tauranga Hospital, Private Bag 12 024, Tauranga, New Zealand
Gut 54:461-8. 2005..The results of annual chromoendoscopic surveillance using the methylene blue/congo red technique in 33 mutation carriers over a five year period are described...
- Novel mutations in the BHD gene and absence of loss of heterozygosity in fibrofolliculomas of Birt-Hogg-Dubé patientsMaurice A M van Steensel
Department of Dermatology, University Hospital Maastricht, Maastricht, The Netherlands
J Invest Dermatol 127:588-93. 2007..Renal microscopic oncocytosis in BHD is considered as a precursor to malignant kidney tumors and may likewise be the result of haplo-insufficiency, with somatic second-hit mutations or LOH giving rise to malignancy later in life...
- Molecular pathology of familial gastric cancer, with an emphasis on hereditary diffuse gastric cancerF Carneiro
Institute of Molecular Pathology and Immunology of the University of Porto IPATIMUP, Porto, Portugal
J Clin Pathol 61:25-30. 2008..In this article, the state of the art of familial gastric cancer regarding the clinical, molecular and pathology features is reviewed, as well as the practical aspects for a correct diagnosis and clinical management...
- Detection of 1733insC mutations in an Asian family with Birt-Hogg-Dubé syndromeH Kawasaki
Department of Dermatology, Hokkaido University Graduate School of Medicine, North 15 West 7, Kita ku, Sapporo 060 8638, Japan
Br J Dermatol 152:142-5. 2005..The defective gene in BHD has been recently identified and is suspected of being a tumour suppressor gene. Several mutations of the BHD gene have been reported only in Caucasian patients...
- A novel familial germline mutation in the initiator codon of the BHD gene in a patient with Birt-Hogg-Dubé syndromeD Bessis
Service de Dermatologie, Hopital Saint Eloi, Montpellier, France
Br J Dermatol 155:1067-9. 2006
- Mutations of the Birt Hogg Dube gene in patients with multiple lung cysts and recurrent pneumothoraxYoko Gunji
J Med Genet 44:588-93. 2007..2, has recently been shown to be defective. Recent genetic studies revealed that clinical pictures of the disease may be variable and may not always present the full expression of the phenotypes...
- Analysis of the Birt-Hogg-Dubé (BHD) tumour suppressor gene in sporadic renal cell carcinoma and colorectal cancerN Fernandes da Silva
Cancer Research UK Renal Molecular Oncology Research Group, University of Birmingham, The Medical School, Edgbaston, Birmingham B15 2TT, UK
J Med Genet 40:820-4. 2003..These findings suggest that BHD inactivation occurs in a subset of clear cell RCC and CRC...
- Mutations in SDHC cause autosomal dominant paraganglioma, type 3S Niemann
Institut fur Humangenetik, Justus Liebig Universitat, Giessen, Germany
Nat Genet 26:268-70. 2000..Between 10% and 50% of cases are familial and are transmitted as autosomal dominant traits with incomplete and age-dependent penetrance...
- Genetics, pathology, and clinics of familial gastric cancerCarla Oliveira
Institute of Molecular Pathology and Immunology of the University of Porto IPATIMUP, Porto, Portugal
Int J Surg Pathol 14:21-33. 2006....
- E-cadherin mutations and hereditary gastric cancer: prevention by resection?R C Fitzgerald
Hutchison MRC Research Centre, Cambridge, UK
Dig Dis 20:23-31. 2002..There are many issues to be considered in order to determine whether prophylactic gastrectomy is the optimal management strategy for these patients...
- Prophylactic gastrectomy for hereditary diffuse gastric cancer syndromeErika A Newman
Section of Gastrointestinal Surgery, Department of Surgery, The University of Michigan Medical Center, Ann Arbor, MI 48108, USA
J Am Coll Surg 202:612-7. 2006..We report the outcomes of patients with the CDH1 mutation who have undergone prophylactic gastrectomy in the year 2003 to 2004...
- Birt-Hogg-Dubé syndrome: germline mutation in the (C)8 mononucleotide tract of the BHD gene in a German patientChristof Lamberti
Acta Derm Venereol 85:172-3. 2005
- Lessons from the skin--cutaneous features of familial cancerIngrid M Winship
Department of Medicine, University of Melbourne, Royal Melbourne Hospital, Vic, Australia
Lancet Oncol 9:462-72. 2008....
- Hereditary diffuse gastric cancer: diagnosis and managementVanessa Blair
Department of Surgery, University of Auckland, Auckland, New Zealand
Clin Gastroenterol Hepatol 4:262-75. 2006....
- Case records of the Massachusetts General Hospital. Case 22-2007. A woman with a family history of gastric and breast cancerDaniel C Chung
Gastroenterology Unit, Massachusetts General Hospital, USA
N Engl J Med 357:283-91. 2007
- Mutations in the BRCA1-associated RING domain (BARD1) gene in primary breast, ovarian and uterine cancersT H Thai
Department of Pediatrics, University of Texas Southwestern Medical Center, Dallas, TX 75235, USA
Hum Mol Genet 7:195-202. 1998..These findings suggest an occasional role for BARD1 mutations in the development of sporadic and hereditary tumors...
- Partnering in oncogenetic research--the INHERIT BRCAs experience: opportunities and challengesDenise Avard
Centre de recherche en droit public, Faculty of Law, University of Montreal, Montreal, Canada
Fam Cancer 5:3-13. 2006..The lessons learned by the INHERIT research team and future challenges are presented...
- Genetic Epidemiology--science and ethics on familial cancersK Hemminki
Department of Biosciences, Karolinska Institute, Huddinge, Sweden
Acta Oncol 40:439-44. 2001..The results have implications for design of genetic studies and for clinical counselling...
- Knowledge of risk management strategies, and information and risk management preferences of women at increased risk for ovarian cancerK Tiller
Department of Medical Oncology, Prince of Wales Hospital, Sydney, Australia
Psychooncology 14:249-61. 2005..Women who reported a lower level of education (no post-school qualifications) may be most likely to benefit from additional educational strategies designed to supplement genetic counseling to improve their knowledge levels...
- Familial pancreatic carcinoma in JewsHenry T Lynch
Department of Preventive Medicine and Public Health, Creighton University School of Medicine, 2500 California Plaza, Omaha, NE 68131, USA
Fam Cancer 3:233-40. 2004..Attention should also be given to the search for mutations predisposing to PC in Jews so that opportunities to learn more about the disease's pathogenesis, as well as screening and control, may take place...
- Hereditary cancer syndromesFlorentia Fostira
Molecular Diagnostics Laboratory, I RRP, National Centre for Scientific Research Demokritos, Athens, Greece
J BUON 12:S13-22. 2007....
- The genetics of hereditary colon cancerAnil K Rustgi
Dapartment of Medicine Gastrointestinal, University of Pennsylvania, Philadelphia, Pennsylvania 19104, USA
Genes Dev 21:2525-38. 2007....
- BRAF as a melanoma susceptibility candidate gene?Karine Laud
Service de Genetique, Institut Gustave Roussy, 94800 Villejuif, Cedex, France
Cancer Res 63:3061-5. 2003..Moreover, there was no significant difference in the frequency of heterozygotes for BRAF variants between melanoma cases and controls when they were compared. Our data suggest that BRAF is unlikely to be a melanoma susceptibility gene...
- Familial myelodysplasia and acute myeloid leukaemia--a reviewCarolyn Owen
Centre for Medical Oncology, Barts and the London School of Medicine and Dentistry, London, UK
Br J Haematol 140:123-32. 2008..Unfortunately, the genetic cause remains obscure in most other reported pedigrees. Further insight into the molecular mechanisms of familial MDS/AML will require awareness by clinicians of new patients with relevant family histories...
- A paradox: urgent BRCA genetic testingG Mitchell
Cancer Genetics Team, The Institute of Cancer Research, Sutton, UK
Fam Cancer 1:25-9. 2001....
- Familial sarcoma: challenging pedigreesHenry T Lynch
Department of Preventive Medicine, Creighton University School of Medicine, Omaha, Nebraska 68178, USA
Cancer 98:1947-57. 2003....
- Ovarian surface epithelium: family history and early events in ovarian cancerAlice S T Wong
Department of Zoology, University of Hong Kong, Hong Kong
Reprod Biol Endocrinol 1:70. 2003..mutational hotspot of BRCA mutation for ovarian cancer? Second, why do mutations in BRCA1 and BRCA2, which are ubiquitously expressed genes that participate in general cellular activities, lead preferentially to breast and ovarian cancer?..
- A social network analysis of communication about hereditary nonpolyposis colorectal cancer genetic testing and family functioningLaura M Koehly
Department of Psychology, Texas A and M University, College Station, Texas 77843 4235, USA
Cancer Epidemiol Biomarkers Prev 12:304-13. 2003..Results of this study suggest encouraging family members who act in the mother role to take a "team approach" with the family proband when discussing HNPCC risks and management with family members...
- Hereditary breast and ovarian cancer syndrome: should we test adolescents?Beata Seeber
Division of Reproductive Endocrinology and Infertility, Department of Obstetrics and Gynecology, University of Pennsylvania Medical Center, Philadelphia, Pennsylvania 19104, USA
J Pediatr Adolesc Gynecol 17:161-7. 2004
- Can we identify the high-risk patients to be screened? A genetic approachAmanda Gammon
Department of Medicine, University of Utah, Salt Lake City, UT 84112 5550, USA
Digestion 76:7-19. 2007..Through this review, we hope to show that the identification of high-risk patients is possible, though sometimes difficult...
- Individualized preventive and therapeutic management of hereditary breast ovarian cancer syndromeDimitrios H Roukos
Department of Surgery, Ioannina University School of Medicine, Ioannina, Greece
Nat Clin Pract Oncol 4:578-90. 2007....
- De-mystifying genes: identifying and managing hereditary cancerMarianne J Davies
Yale University School of Medicine, Section of Medcial Oncology, Yale Cancer Center, New Haven, CT, USA
ONS Connect 22:43-4. 2007
- Cutaneous leiomyomas: a clinical marker of risk for hereditary leiomyomatosis and renal cell cancerLaveta Stewart
Genetic Epidemiology Branch, National Cancer Institute, National Institutes of Health, Rockville, MD, USA
Dermatol Nurs 18:335-41; quiz 342. 2006
- Occurrence of both breast and ovarian cancer in a woman is a marker for the BRCA gene mutations: a population-based study from western SwedenZakaria Einbeigi
Department of Oncology, Sahlgrenska University Hospital, S413 45 Göteborg, Sweden
Fam Cancer 6:35-41. 2007..This study aimed to analyze whether the occurrence of both breast and ovarian cancer in a woman serves as a marker for BRCA gene mutations...
- Molecular biology in colorectal cancerManuel Benito
Departamento de Bioquimica y Biologia Molecular, Facultad de Farmacia, Universidad Complutense, and Servicio de Oncologia Medica, Hospital Clinico San Carlos, Madrid, Spain
Clin Transl Oncol 8:391-8. 2006..This understanding facilitates the development of therapeutic drugs and preventive strategies...
- Differences in IGFBP-3 regulation between young healthy women from BRCAX families and those belonging to BRCA1/2 familiesHelena Jernstrom
Department of Oncology, Lund University, Lund, Sweden
Eur J Cancer Prev 15:233-41. 2006..It is possible that a subgroup of the BRCAX families has an increased risk of breast cancer because of high IGFBP-3 levels...
- Identification of a founder BRCA2 mutation in Sardinian breast cancer familiesMaria Monne
Centro di Diagnostica Biomolecolare e Citogenetica Emato Oncologica, San Francesco Hospital, ASL3 via Mannironi 1, 08100 Nuoro, Italy
Fam Cancer 6:73-9. 2007..Haplotype analysis strongly suggests that all affected persons had a common ancestor. The identification of this clinically significant founder mutation may facilitate screening/testing for inherited risk of breast cancer...
- BRCA1 germline mutations in Chinese patients with hereditary breast and ovarian cancerN Li
Department of Gynecological Oncology, Cancer Hospital, Chinese Academy of Medical Sciences, Peking Union Medical College, Beijing, China
Int J Gynecol Cancer 16:172-8. 2006..No ovarian cancer was detected after 19 months of follow-up. This study showed that BRCA1 mutations play an important role in Northern Chinese HBOC...
- Efficacy of screening women at high risk of hereditary ovarian cancer: results of an 11-year cohort studyK N Gaarenstroom
Department of Gynecology, Leiden University Medical Center, Leiden, The Netherlands
Int J Gynecol Cancer 16:54-9. 2006..We conclude that the efficacy of screening women at high risk of ovarian cancer seems poor because the majority of cancers were detected at an advanced stage...
- Melanoma genetics: a review of genetic factors and clinical phenotypes in familial melanomaLana Pho
Department of Dermatology, University of Utah Health Sciences Center, Salt Lake City, 84112, USA
Curr Opin Oncol 18:173-9. 2006..The clinical phenotypes of familial melanoma syndromes and genetic and environmental interactions are reviewed to summarize the current status of the field and to identify gaps in molecular and clinical investigations...
- No evidence for large-scale germline genomic aberrations in hereditary bladder cancer patients with high-resolution array-based comparative genomic hybridizationLambertus A Kiemeney
Department of Urology, Radboud University Nijmegen Medical Centre, P O Box 9101, NL 6500 HB Nijmegen, The Netherlands
Cancer Epidemiol Biomarkers Prev 15:180-3. 2006
- Genetics of uro-genital cancer: prostate and ovaryBen Jemaa Khemakhem Lamia
Service des maladies congénitales et héréditaires, EPS Charles Nicolle Tunis
Tunis Med 83:20-2. 2005
- The role of prophylactic surgery in cancer preventionY Nancy You
Department of Surgery, Mayo Clinic, 200 First Street SW, Rochester, Minnesota 55902, USA
World J Surg 31:450-64. 2007....
- Hereditary breast cancer syndromes in a Turkish population. Results of molecular germline analysisSefik Guran
Department of Medical Biology, Gulhane Medical Faculty, Izmir Caddesi, Moda Işhani, A Blok, Kat 3, No 131, 06440 Kizilay Ankara, Turkey
Cancer Genet Cytogenet 160:164-8. 2005..Our data show the importance of detailed examination of clinical data, pedigree analyses, and molecular germline diagnostics for the counseling of breast cancer cases...
- Psychological impact of genetic testing for cancer susceptibility: an update of the literatureBettina Meiser
Department of Medical Oncology, Prince of Wales Hospital, Sydney, Australia
Psychooncology 14:1060-74. 2005..As genetic testing is becoming available for other types of familial cancer, additional investigations will be needed as there is evidence to suggest that the impact of genetic testing may be unique to each type of familial cancer...
- Distinction between hereditary and sporadic breast cancer on the basis of clinicopathological dataP van der Groep
Department of Pathology, University Medical Center Utrecht, Utrecht, The Netherlands
J Clin Pathol 59:611-7. 2006..About 5% of all breast cancer cases are attributable to germline mutations in BRCA1 or BRCA2 genes. BRCA mutations in suspected carriers, however, may be missed, which hampers genetic counselling...
- Homozygosity for a CHEK2*1100delC mutation identified in familial colorectal cancer does not lead to a severe clinical phenotypeMarjo van Puijenbroek
Department of Pathology, Leiden University Medical Centre, The Netherlands
J Pathol 206:198-204. 2005..It is also concluded that CHEK2 protein abrogation is not caused by the CHEK2 germline variants R117G, R137Q, R145W, I157T, and R180H in familial colorectal cancer...
- Roles and responsibilities of a medical geneticistWendy S Rubinstein
Evanston Northwestern Healthcare Center for Medical Genetics, Evanston, IL 60201, USA
Fam Cancer 7:5-14. 2008..General principles are highlighted so that these specific cases can be extrapolated to other genes and hereditary conditions by medical geneticists, genetic counselors, and others practicing in the field of cancer genetics...
- [Genetic counseling]Joji Utsunomiya
Hyogo College of Medicine
Gan To Kagaku Ryoho 32:967-72. 2005..Based upon our experiences with 250 families having various cancers, we have attempted to extract issues to be addressed in further detail...
- Mutation analysis and characterization of ATR sequence variants in breast cancer cases from high-risk French Canadian breast/ovarian cancer familiesFrancine Durocher
Cancer Genomics Laboratory, Oncology and Molecular Endocrinology Research Centre, Centre Hospitalier Universitaire de Quebec and Laval University, Quebec, G1V 4G2, Canada
BMC Cancer 6:230. 2006..ATR appears as a good candidate breast cancer susceptibility gene and the current study was designed to screen for ATR germline mutations potentially involved in breast cancer predisposition...
- Germline mutations in the PTEN gene in Israeli patients with Bannayan-Riley-Ruvalcaba syndrome and women with familial breast cancerA Figer
The Institute of Oncology, Tel Aviv Medical Center, Tel Aviv, Israel
Clin Genet 62:298-302. 2002..This study suggests that PTEN does not play a major role in predisposing to hereditary breast cancer in Israeli women, and that detection of PTEN mutations in BRRS patients is more likely in familial cases...
- Risk in numbers--difficulties in the transformation of genetic knowledge from research to people--the case of hereditary cancerL Sachs
Department of Public Health Sciences, Karolinska Institutet, Stockholm, Sweden
Acta Oncol 40:445-53. 2001..These issues need clarification, so that information with far-reaching consequences can be made as clear and comprehensible as possible for those involved...
- Hereditary cancer syndromes of the skinBrian Somoano
Harvard Medical School, Boston, MA 02115, USA
Clin Dermatol 23:85-106. 2005..This article provides an update on the clinical features, diagnostic criteria, and the use of genetic analysis in the detection of causative mutations of those hereditary cancer syndromes with cutaneous manifestations...
- Is BRCA1 associated with familial breast cancer in India?Fergus J Couch
Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, Minnesota 55905, USA
Cancer Biol Ther 1:22-3. 2002
- Five recurrent BRCA1/2 mutations are responsible for cancer predisposition in the majority of Slovenian breast cancer familiesMateja Krajc
Institute of Oncology Ljubljana, Zaloska 2, 1000 Ljubljana, Slovenia
BMC Med Genet 9:83. 2008..A second objective was to determine the cancer phenotype of these families...
- Association between BRCA1 and BRCA2 mutations and cancer phenotype in Spanish breast/ovarian cancer families: implications for genetic testingMiguel de la Hoya
Laboratory of Molecular Oncology, Hospital Universitario San Carlos, Madrid, Spain
Int J Cancer 97:466-71. 2002..4% and 79%, respectively (probability cutoff of 30%). The findings of our work may be a useful tool for increasing the cost-effectiveness of genetic testing in familial cancer clinics...
- Germline BRCA1 mutation analysis in Indian breast/ovarian cancer familiesB Vinod Kumar
Division of Cancer Research, Indian Institute of Science, Bangalore, India 560 012
Cancer Biol Ther 1:18-21. 2002..Our data from 14 different families suggests a lower prevalence but definite involvement of germline mutations in the BRCA1 gene among Indian women with breast cancer and a family history of breast cancer...
- German national case collection of familial pancreatic cancer - clinical-genetic analysis of the first 21 familiesH Rieder
Institut für Klinische Genetik, Philipps Universitat, Marburg, Germany
Onkologie 25:262-6. 2002..In order to evaluate the characteristics of familial PC, a German national case collection for familial pancreas cancer (FaPaCa) was established...
- Novel mutations in the BRCA1 and BRCA2 genes in Iranian women with early-onset breast cancerVahid R Yassaee
North Trent Molecular Genetics Laboratory, Sheffield Children s Hospital, Western Bank, Sheffield S10 2TH, UK
Breast Cancer Res 4:R6. 2002..So far, germline mutations in the BRCA1 and BRCA2 genes in patients with early-onset breast and/or ovarian cancer have not been identified within the Iranian population...
- Analysis of BRCA1 and BRCA2 in breast and breast/ovarian cancer families shows population substructure in the Iberian peninsulaA Vega
Unidad de Medicina Molecular, Hospital de Conxo Universidad de Santiago de Compostela, Spain
Ann Hum Genet 66:29-36. 2002..The BRCA1 330 A>G mutation was found in four unrelated families and accounted for 50% of all identified mutations...
- Large regional differences in the frequency of distinct BRCA1/BRCA2 mutations in 517 Dutch breast and/or ovarian cancer familiesL C Verhoog
Division of Tumour Endocrinology, Department of Medical Oncology, Daniel den Hoed Cancer Center, University Hospital, Rotterdam, The Netherlands
Eur J Cancer 37:2082-90. 2001..Thus, large regional differences exist in the prevalence of certain specific BRCA1/BRCA2 founder mutations, even in very small areas concerning populations of approximately 200000 inhabitants...
- [Genetic testing and counseling for familial tumor syndromes]Miyuki Katai
Division of Molecular and Clinical Genetics, Shinshu University Hospital
Gan To Kagaku Ryoho 29:502-7. 2002..Genetic medicine is not sufficiently available at present in Japan. Establishment of genetic services that deal with genetic counseling, family support and ethical, social and legal issues is strongly desired...
- Hereditary breast-ovarian cancer: clinical findings and medical managementMegan Marshall
Allegheny Cancer Center, 320 East North Avenue, Pittsburgh, PA 15212, USA
Plast Surg Nurs 27:124-7. 2007..Upon receipt of results, healthcare providers offer the patient with appropriate medical management recommendations...
- BRCA1 and prostate cancerE M Rosen
Department of Radiation Oncology, Long Island Jewish Medical Center, Long Island Campus, Albert Einstein College of Medicine, 270-05 76th Avenue, New Hyde Park, NY 11040, USA
Cancer Invest 19:396-412. 2001..These activities are consistent with a putative prostate tumor suppressor function of BRCA1...
- The genetic basis of Muir-Torre syndrome includes the hMLH1 locusB Bapat
Am J Hum Genet 59:736-9. 1996
- Cancer risk assessment and the genetic counseling process: using hereditary breast and ovarian cancer as an exampleSandra K Prucka
Department of Genetics, University of Alabama at Birmingham, Birmingham, Ala, USA
Med Princ Pract 17:173-89. 2008..In addition, tools are provided to assist in identifying these individuals in clinical practice and streamlining the referral process to a cancer genetics center...
- Clinical characteristics of hereditary ovarian cancer (HOC) in PolandJanusz Menkiszak
Dept of Genetics and Pathology Pomeranian Medical Academy
Ginekol Pol 73:733-9. 2002..Hereditary ovarian cancer (HOC), as any genetic disease, may display clinical characteristics that depends on population...
- Comprehensive analysis of 989 patients with breast or ovarian cancer provides BRCA1 and BRCA2 mutation profiles and frequencies for the German populationA Meindl
Department of Medical Genetics, Ludwig Maximilians University, Munich, Germany
Int J Cancer 97:472-80. 2002..The decision for or against molecular diagnosis is now aided by considering the expected mutation detection rates that greatly depend on family history and structure...
- The genetics of ovarian cancerPaul D P Pharoah
Department of Oncology, University of Cambridge, Strangeways Research Laboratories, Worts Causeway, Cambridge, CB1 8RN, UK
Best Pract Res Clin Obstet Gynaecol 16:449-68. 2002..The evidence for the existence of other ovarian cancer genes is then considered...
- Basic concepts for genetic testing in common hereditary colorectal cancer syndromesKristina Markey
Denver Department of Veterans Affairs Medical Center and University of Colorado Hospital Hereditary Cancer Clinic, 1055 Clermont Street, Denver, CO 80220, USA
Curr Gastroenterol Rep 4:404-13. 2002..This article describes the genetic testing strategy in HNPCC and FAP...
- Italian family with two independent mutations: 3358T/A in BRCA1 and 8756delA in BRCA2 genesLaura Cortesi
Dipartimento di Oncologia ed Ematologia, Universita di Modena e Reggio Emilia, Italy
Eur J Hum Genet 11:210-4. 2003..The discovery of the BRCA2 mutation allowed us to alert the patient's daughter who, otherwise, could be falsely reassured since she had a negative BRCA1 test...
- The founder mutation BRCA1c.2845insA identified in a fallopian tube cancer patient: a case reportZ Damayanti
Department of Obstetrics and Gynecology, National University Hospital, Singapore
Int J Gynecol Cancer 16:362-5. 2006..A literature review of the association between this rare malignancy and BRCA mutation carriers and its implications to prophylactic surgery is discussed...
- Genetic risk profiles for cancer susceptibility and therapy responseHelmut Bartsch
Deutsches Krebsforschungszentrum, Toxicology and Cancer Risk Factors, Heidelberg, Germany
Recent Results Cancer Res 174:19-36. 2007..Before translating these findings into clinical use and application for public health measures, large population-based studies and validation of the results will be required...
- Epigenetic silencing of beta-spectrin, a TGF-beta signaling/scaffolding protein in a human cancer stem cell disorder: Beckwith-Wiedemann syndromeZhi Xing Yao
Department of Gastroenterology, MD Anderson Cancer Center, Houston, Texas 77030, USA
J Biol Chem 285:36112-20. 2010....
- Guidelines for diagnosis and therapy of MEN type 1 and type 2M L Brandi
Department of Internal Medicine, University of Florence, 50139 Florence, Italy
J Clin Endocrinol Metab 86:5658-71. 2001....
- Deciphering adaptor specificity in GFL-dependent RET-mediated proliferation and neurite outgrowthJason A Gustin
Department of Pathology, Washington University School of Medicine, St Louis, Missouri 63110, USA
J Neurochem 102:1184-94. 2007....
- Three synchronous primary carcinomas in a patient with HNPCC associated with a novel germline mutation in MLH1: Case reportCristian D Valenzuela
Department of Surgery, NYU Langone Medical Center, New York, USA
World J Surg Oncol 7:94. 2009..It is important to develop genotype-phenotype correlations for HNPCC, as is being done for other hereditary cancer syndromes, in order to guide surveillance and treatment strategies in the future...
- Cancer genetic counseling in public health care hospitals: the experience of three Brazilian servicesEdenir Inez Palmero
Department of Genetics, Federal University of Rio Grande do Sul, Porto Alegre, Brazil
Community Genet 10:110-9. 2007....
- Tumorigenesis facilitated by Pten deficiency in the skin: evidence of p53-Pten complex formation on the initiation phaseNobuyasu Komazawa
Department of Social and Environmental Medicine, Osaka University, Suita, 565 0871, Japan
Cancer Sci 95:639-43. 2004..These observations suggest that Pten is involved in rapid recruitment of p53 in the tumor initiation phase...
- Genetic testing for colorectal carcinoma susceptibility: focus group responses of individuals with colorectal carcinoma and first-degree relativesA Y Kinney
University of Utah College of Nursing, Salt Lake City, Utah 84112, USA
Cancer 91:57-65. 2001..Currently, however, little is known about the behavioral, psychosocial, ethical, legal, and economic outcomes of CRC genetic counseling and testing...
- Genetic counseling in hereditary non-polyposis colorectal cancerA Heouaine
, Istituto Nazionaleper la Ricerca sul Cancro, Genova, Italy
Tumori 82:136-42. 1996..In this way, pilot studies, involving both clinicians and researchers, can be undertaken with the aim of providing comprehensive results, potentially applicable to other cancer-predisposing conditions...
- Hereditary breast cancer considering Cowden syndrome: a case studyPatricia Kelly
Presbyterian Hospital of Dallas, Jackson Building, 6th Floor, 8200 Walnut Hill Ln, Dallas, TX 75231, USA
Cancer Nurs 26:370-5. 2003....
- Contending visions in the evolution of genetic medicine: the case of cancer genetic services in Ontario, CanadaFiona Alice Miller
Health Policy, Management and Evaluation, University of Toronto, 155 College Street, 4th Floor, Toronto, Ontario M5T 3M6, Canada
Soc Sci Med 67:152-60. 2008..Yet questions about who will control genetic technologies are not simply turf battles between the professions: they are also inescapably questions about what the genetic technologies should and will accomplish clinically...
- Higher occurrence of childhood cancer in families with germline mutations in BRCA2, MMR and CDKN2A genesSusanne Magnusson
Department of Oncology, Institution of Clinical Sciences, Lund University, Lund University Hospital, Lund, 22185, Sweden
Fam Cancer 7:331-7. 2008..4; 95% CI 3.5-44.1), MMR genes (OR 29.0; 95% CI 9.1-92.6), and CDKN2A (OR 30.2; 95% CI 7.0-131.1). This study suggests that the risk for childhood tumors is increased in families with germline mutations in the BRCA2, MMR and CDKN2A genes...
- Genetic testing and prevention of hereditary cancer at the MMCI--over 10 years of experienceL Foretova
Department of Cancer Epidemiology and Genetics, Masaryk Memorial Cancer Institute, Brno, Czech Republic
Klin Onkol 23:388-400. 2010..However, in some patients the testing is not recommended and other family members are dying because of the late diagnosis of hereditary syndrome. Greater awareness of the importance of genetic testing in oncology is needed...
- Phenotypic variation in eight extended CDKN2A germline mutation familial atypical multiple mole melanoma-pancreatic carcinoma-prone families: the familial atypical mole melanoma-pancreatic carcinoma syndromeHenry T Lynch
Department of Preventive Medicine, Creighton University School of Medicine, Omaha, Nebraska 68178, USA
Cancer 94:84-96. 2002....
- Expansion of a mutated clone: from stem cell to tumourS J Leedham
Histopathology Department, Cancer Research UK, London, UK
J Clin Pathol 61:164-71. 2008..This model has been used to suggest that short-range interaction between adjacent initiated crypts, not random polyp collision, is responsible for tumour polyclonality...
- Ethical, legal and social implications of prenatal and preimplantation genetic testing for cancer susceptibilityC W Wang
Medical Ethics Unit, Li Ka Shing Faculty of Medicine, The University of Hong Kong, 21 Sassoon Road, Pokfulam, Hong Kong
Reprod Biomed Online 19:23-33. 2009..e. informed choice, beneficence to children and social justice, and their implications for the responsible translation of these medical techniques into common practice of preventive medicine are highlighted...
- Array-comparative genomic hybridization in sporadic benign pheochromocytomasFrancien H van Nederveen
Department of Pathology, Josephine Nefkens Institute, Erasmus MC University Medical Center Rotterdam, Rotterdam, The Netherlands
Endocr Relat Cancer 16:505-13. 2009..In addition, genes on 21q and 22q might play a more important role in PCC pathogenesis than had been assumed thus far...
- BRCA1/2 genetic background-based therapeutic tailoring of human ovarian cancer: hope or reality?Pierosandro Tagliaferri
Medical Oncology Unit and Center for Genetic Counseling and Innovative Treatments, Tommaso Campanella Cancer Center, Catanzaro 88100, Italy
J Ovarian Res 2:14. 2009..The presently available preclinical and clinical evidence clearly indicates that genetic background has an emerging role in treatment individualization for ovarian cancer patients...
- Are there two sides to colorectal cancer?Barry Iacopetta
Department of Surgery, University of Western Australia, Nedlands, Australia
Int J Cancer 101:403-8. 2002....
- Inherited predisposition to gliomaAthanassios P Kyritsis
University Hospital of Ioannina, Neurosurgical Research Institute, University of Ioannina School of Medicine, University Campus, Ioannina 45110, Greece
Neuro Oncol 12:104-13. 2010..Future molecular diagnosis may identify new genomic regions that could harbor genes important for glioma predisposition and aid in the early diagnosis of these patients and genetic counseling of their families...
- Risk of cancer among children of cancer patients - a nationwide study in FinlandLaura Maria S Madanat-Harjuoja
Finnish Cancer Registry, Institute for Statistical and Epidemiological Cancer Research, Helsinki, Finland
Int J Cancer 126:1196-205. 2010..These findings are directly relevant to counseling cancer survivors with regard to family planning...
- Should genetic testing for BRCA1/2 be permitted for minors? Opinions of BRCA mutation carriers and their adult offspringAngela R Bradbury
Fox Chase Cancer, Division of Population Science, Philadelphia, PA 19111, USA
Am J Med Genet C Semin Med Genet 148:70-7. 2008....
- [Multiple primary neoplasms - coincidence or tumor syndrom?]C Schrofer
Departement Chirurgie, Viszeralchirurgie, Kantonsspital Graubunden, Chur
Praxis (Bern 1994) 98:1027-31. 2009..Multiple primary neoplasms occur either by hazard or in the context of hereditary cancer syndromes, after chronic toxic exposition, in immunodeficiency or as secondary malignancies after radio- and/or chemotherapy...
- Classifying DNA Mismatch Repair Gene Variants of Unknown SignificanceSEAN VAHRAM TAVTIGIAN; Fiscal Year: 2013..Improving the interpretation of genetic variation will improve the management of hereditary cancers and other genetic diseases. ..
- Genetic Testing and Cancer Screening in Hereditary Cancer SyndromesElena Martinez Stoffel; Fiscal Year: 2011..Identification of factors which impact cancer screening behaviors and cancer risk stratification will lead to improvements in clinical care for all patients at risk for CRC. ..
- MULTIPLE RISKS, DECISIONS & BEHAVIORS IN THE GENOMIC ERAKaren E Hurley; Fiscal Year: 2010..g., women over 50 undergoing routine breast, colorectal, cervical, and skin cancer surveillance). ..
- EDRN: Clinical Epidemiology & Validation CentersHenry T Lynch; Fiscal Year: 2010..b. a study to evaluate the acceptability of hypothetical biomarkers among high risk and average risk individuals and primary health care providers. ..
- Attitudes Regarding Prenatal and Preimplantation Genetic Diagnosis For Inherited Lisa Rubin; Fiscal Year: 2009....
- Genetic Discrimination Knowledge in Primary CareJeffrey Weitzel; Fiscal Year: 2004..Because genetic testing for hereditary cancer represents a new paradigm for predictive genetic testing in other adult onset disorders, the results of the proposed study will potentially have broad-based implications. ..
- THE 'GREAT' SYSTEM TO IDENTIFY FAMILIAL CANCER RISKLouise Acheson; Fiscal Year: 2005..abstract_text> ..
- POPULATION-BASED GENETIC RISK INTERVENTION VIA THE WEBRobert Robbins; Fiscal Year: 2002..A small proportion of eligible participants will be offered genetic counseling to consider genetic mutation testing. The main outcomes of this project are cancer worry, perceived risk, quality of life, and breast screening intentions. ..
- PHENOTYPIC AND PSYCHOSOCIAL STUDY OF THE L1307K MUTATIONHenry Lynch; Fiscal Year: 2004....
- P21 INDUCTION BY BRCA2Fergus Couch; Fiscal Year: 2002....
- PET IMAGING IN MULTIMODALITY MANAGEMENT OF RECTAL CANCERJose Guillem; Fiscal Year: 2001..abstract_text> ..
- Characterization of the Chromosome 17q23 AmpliconFergus Couch; Fiscal Year: 2006..Thus, the project may involve a complete transition from benchtop to bedside. Finally, the amplified and overexpressed genes may prove useful as important targets of gene, pharmacological, and immunological therapy in the future. ..
- FAMILIAL COLORECTAL NEOPLASIA COLLABORATIVE GROUPNoralane Lindor; Fiscal Year: 2007..fs20\par \par } ..
- Defining the role of MC1R in UV-induced oxidative damage and DNA repairJOHN DORAZIO; Fiscal Year: 2008..Most importantly, we anticipate that our resulting data will provide clear insight into effective, topical approaches to repairing UV-mediated skin damage and preventing skin cancer. [unreadable] [unreadable] [unreadable]..
- Risk Perception/Communications/Reduction BehaviorsLois Loescher; Fiscal Year: 2008..Results of this research will be used to formulate a model of risk processes and develop future behavioral interventions to reduce cancer risk. ..
- Extracellular matrix and protease markers of malignant thyroid neoplasmElectron Kebebew; Fiscal Year: 2007..We will use these results to design a multicenter clinical trial evaluating the diagnostic and prognostic value of ECM1 and TMPRSS4 expression in patients with thyroid neoplasm. [unreadable] [unreadable] [unreadable]..
- Diet, Epigenetic Events, And Cancer PreventionDavid Martin; Fiscal Year: 2009..3. Investigate effects of methyl donor supplementation on CpG methylation of the A-vy allele We will use bisulphite allelic sequencing to obtain a detailed picture of the methylation status of the allele in mice bred for Aims 1 and 2. ..
- Do Physicians Understand Uncertain Variants and Other Genetic Test Results?Sharon Plon; Fiscal Year: 2009..With the increasing availability of complex testing modalities, e.g. DNA and RNA gene chips, for a variety of both rare and common diseases, appropriate reporting and physician education must accompany the development of these tests. ..
- Biomarkers of UC TumorigenesisTeresa A Brentnall; Fiscal Year: 2010..Both of these goals will help provide the underpinnings for development of cancer prevention strategies in the future. ..
- Epithelial-stromal cell interactions in breast cancerKornelia Polyak; Fiscal Year: 2010....
- Pancreatic Cancer Protein Biomarkers for Early DetectionTeresa A Brentnall; Fiscal Year: 2010....
- Epidemiology of Syndromic GI Stromal TumorsJudy Ellen Garber; Fiscal Year: 2010..Our goal is to define the spectrum of syndromic GISTs, and to generate the information that will form the basis for clinical counseling for members of GIST kindreds, with and without germline mutations in KIT or PDGFRA. ..
- Development of Chronic Pancreatitis BiomarkersTeresa A Brentnall; Fiscal Year: 2010..An accurate biomarker for chronic pancreatitis would be of enormous clinical benefit and could save time and costs in comparison to the current gold standard of endoscopic testing for the disease. ..
- Role of Family History in CAD Risk AssessmentMaren Scheuner; Fiscal Year: 2007..In addition, the incremental value of comprehensive familial risk assessment in decision-making regarding lipid-lowering treatment with diet or drugs for primary prevention of CAD will be analyzed. [unreadable] [unreadable] [unreadable]..
- BAALC in neurogenesis and hematopoiesisAlbert de la Chapelle; Fiscal Year: 2007..It is postulated that the high degree of evolutionary conservation of BAALC in mammals will allow observations in mice to be applicable to humans. ..
- Targeting Akt/NF-kappa beta for Pancreatic Cancer TherapyFazlul Sarkar; Fiscal Year: 2007..These results will provide mechanistic as well as pre-clinical data in support of our hypotheses and may open new and novel avenues for the treatment of human pancreatic cancer. ..
- RANDOMIZED STUDY--BRCA1/2 GENETIC V CONSENT COUNSELINGJudy Garber; Fiscal Year: 2001..These include participant genetics knowledge, anxiety, interest in testing, satisfaction with the testing process and decision making. They will also compare the health care costs associated with both interventions and health behaviors. ..
- FUNCTIONAL PROPERTIES OF THE WILMS TUMOR GENE WT1Daniel Haber; Fiscal Year: 2002..Finally, Dr. Haber proposes to seek other potential Wilm's tumor genes using his collection of normal/tumor pairs of DNAs and the RDA approach developed by Lisitsyn and Wigler. ..
- ALTERNATIVE DNA DAMAGE CHECKPOINT PATHWAYS IN EUKARYOTESSharon Plon; Fiscal Year: 2002..These latter results will demonstrate whether activation of an alternative checkpoint pathway might be used therapeutically for patients with AT or to alter the resistance of tumors to radiation and other DNA-damaging agents. ..
- MOLECULAR ANALYSIS OF FANCONI'S ANEMIA C PROTEINSharon Plon; Fiscal Year: 2003....
- Process & Outcomes of BRCAL/2 clinical testingJudy Garber; Fiscal Year: 2003..The information learned from this project may help to create a standard for the optimal conduct of BRCA 1/2 testing, and potentially for other predisposition testing as well. ..
- FUNCTIONAL CHARACTERIZATION OF BRCA1Daniel Haber; Fiscal Year: 2004..By analysis of altered gene expression profiles following BRCA1 overexpression, together with the disruption of BRCA1 function using dominant negative constructs, we expect to gain insight into the function of this tumor suppressor. ..
- INCIDENCE AND MOLECULAR SCREENING FOR HEREDITARY CANCERAlbert de la Chapelle; Fiscal Year: 2004..abstract_text> ..
- Targets of Ewing Sarcoma-Wilms Tumor 1 OncoproteinDaniel Haber; Fiscal Year: 2006..abstract_text> ..
- Myc Signaling in MedulloblastomasCharles Eberhart; Fiscal Year: 2006..Finally, in Specific Aim 4 we propose developing a novel medulloblastoma transgenic model by overexpressing c-Myc in the cerebellum of transgenic mice. ..
- HIN-1,A Novel Putative Breast Tumor Suppressor GeneKornelia Polyak; Fiscal Year: 2006..abstract_text> ..
- Genetic Models of Cellular ProliferationDaniel Haber; Fiscal Year: 2006..Collectively, these studies provide a concerted effort to make use of powerful tools provided by genetic model systems to define the function of new genes involved in cellular proliferation and their potential roles in human cancer...
- Genetic and Epigenetic Markers in Ovarian CancerElizabeth Swisher; Fiscal Year: 2006..These studies may identify new prognostic or diagnostic markers in ovarian cancer. Such markers could then be tested in prospective trials to determine their clinical utility. ..
- REGULATION OF ESOPHAGEAL EPITHELIAL GENE EXPRESSIONAnil Rustgi; Fiscal Year: 2001..Three specific aims are proposed: (1) to isolate cDNA clones encoding KSF, (2) to characterize the tissue expression of KSF, and (3) to characterize the regulation of expression of the keratin 4 promoter by KSF. ..
- BREAST CANCER PREVENTION IN HODGKINS DISEASEJudy Garber; Fiscal Year: 2002..We will also evaluate mammographic density as a potential intermediate endpoint that might permit more rapid completion of a randomized study. ..
- Germline epimutation of hMLH1 as a factor in HNPCCDavid Martin; Fiscal Year: 2006..They may also produce the first clear evidence that epigenetic silencing can be inherited to produce a familial disorder such as HNPCC. [unreadable] [unreadable] [unreadable]..