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.

Top Publications

  1. Pollard P, Wortham N, Barclay E, Alam A, Elia G, Manek S, et al. Evidence of increased microvessel density and activation of the hypoxia pathway in tumours from the hereditary leiomyomatosis and renal cell cancer syndrome. J Pathol. 2005;205:41-9 pubmed
  2. Kawasaki H, Sawamura D, Nakazawa H, Hattori N, Goto M, Sato Matsumura K, et al. Detection of 1733insC mutations in an Asian family with Birt-Hogg-Dubé syndrome. Br J Dermatol. 2005;152:142-5 pubmed
    ..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...
  3. Shaw D, Blair V, Framp A, Harawira P, McLeod M, Guilford P, et al. Chromoendoscopic surveillance in hereditary diffuse gastric cancer: an alternative to prophylactic gastrectomy?. Gut. 2005;54:461-8 pubmed
    ..The results of annual chromoendoscopic surveillance using the methylene blue/congo red technique in 33 mutation carriers over a five year period are described...
  4. Plon S, Eccles D, Easton D, Foulkes W, Genuardi M, Greenblatt M, et al. Sequence variant classification and reporting: recommendations for improving the interpretation of cancer susceptibility genetic test results. Hum Mutat. 2008;29:1282-91 pubmed publisher
    ..The international adoption of a standardized reporting system should improve the clinical utility of sequence-based genetic tests to predict cancer risk...
  5. Winship I, Dudding T. Lessons from the skin--cutaneous features of familial cancer. Lancet Oncol. 2008;9:462-72 pubmed publisher
  6. Chung D, Yoon S, Lauwers G, Patel D. Case records of the Massachusetts General Hospital. Case 22-2007. A woman with a family history of gastric and breast cancer. N Engl J Med. 2007;357:283-91 pubmed
  7. Carneiro F, Oliveira C, Suriano G, Seruca R. Molecular pathology of familial gastric cancer, with an emphasis on hereditary diffuse gastric cancer. J Clin Pathol. 2008;61:25-30 pubmed
    ..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...
  8. Gunji Y, Akiyoshi T, Sato T, Kurihara M, Tominaga S, Takahashi K, et al. Mutations of the Birt Hogg Dube gene in patients with multiple lung cysts and recurrent pneumothorax. J Med Genet. 2007;44:588-93 pubmed
    ..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...
  9. da Silva N, Gentle D, Hesson L, Morton D, Latif F, Maher E. Analysis of the Birt-Hogg-Dubé (BHD) tumour suppressor gene in sporadic renal cell carcinoma and colorectal cancer. J Med Genet. 2003;40:820-4 pubmed
    ..These findings suggest that BHD inactivation occurs in a subset of clear cell RCC and CRC...

More Information


  1. Lamberti C, Schweiger N, Hartschuh W, Schulz T, Becker Wegerich P, Kuster W, et al. Birt-Hogg-Dubé syndrome: germline mutation in the (C)8 mononucleotide tract of the BHD gene in a German patient. Acta Derm Venereol. 2005;85:172-3 pubmed
  2. Oliveira C, Seruca R, Carneiro F. Genetics, pathology, and clinics of familial gastric cancer. Int J Surg Pathol. 2006;14:21-33 pubmed
  3. Blair V, Martin I, Shaw D, Winship I, Kerr D, Arnold J, et al. Hereditary diffuse gastric cancer: diagnosis and management. Clin Gastroenterol Hepatol. 2006;4:262-75 pubmed
  4. Avard D, Bridge P, Bucci L, Chiquette J, Dorval M, Durocher F, et al. Partnering in oncogenetic research--the INHERIT BRCAs experience: opportunities and challenges. Fam Cancer. 2006;5:3-13 pubmed
    ..The lessons learned by the INHERIT research team and future challenges are presented...
  5. Linehan W, Walther M, Zbar B. The genetic basis of cancer of the kidney. J Urol. 2003;170:2163-72 pubmed
    ..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...
  6. Newman E, Mulholland M. Prophylactic gastrectomy for hereditary diffuse gastric cancer syndrome. J Am Coll Surg. 2006;202:612-7 pubmed
    ..We report the outcomes of patients with the CDH1 mutation who have undergone prophylactic gastrectomy in the year 2003 to 2004...
  7. Thorstenson Y, Roxas A, Kroiss R, Jenkins M, Yu K, Bachrich T, et al. Contributions of ATM mutations to familial breast and ovarian cancer. Cancer Res. 2003;63:3325-33 pubmed
    ..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...
  8. Pithukpakorn M, Wei M, Toure O, Steinbach P, Glenn G, Zbar B, et al. Fumarate hydratase enzyme activity in lymphoblastoid cells and fibroblasts of individuals in families with hereditary leiomyomatosis and renal cell cancer. J Med Genet. 2006;43:755-62 pubmed
    ..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...
  9. Pavlovich C, Grubb R, Hurley K, Glenn G, Toro J, Schmidt L, et al. Evaluation and management of renal tumors in the Birt-Hogg-Dubé syndrome. J Urol. 2005;173:1482-6 pubmed
    ..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...
  10. Bessis D, Giraud S, Richard S. A novel familial germline mutation in the initiator codon of the BHD gene in a patient with Birt-Hogg-Dubé syndrome. Br J Dermatol. 2006;155:1067-9 pubmed
  11. van Steensel M, Verstraeten V, Frank J, Kelleners Smeets N, Poblete Gutierrez P, Marcus Soekarman D, et al. Novel mutations in the BHD gene and absence of loss of heterozygosity in fibrofolliculomas of Birt-Hogg-Dubé patients. J Invest Dermatol. 2007;127:588-93 pubmed
    ..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...
  12. Fitzgerald R, Caldas C. E-cadherin mutations and hereditary gastric cancer: prevention by resection?. Dig Dis. 2002;20:23-31 pubmed
    ..There are many issues to be considered in order to determine whether prophylactic gastrectomy is the optimal management strategy for these patients...
  13. Oliveira C, Sousa S, Pinheiro H, Karam R, Bordeira Carriço R, Senz J, et al. Quantification of epigenetic and genetic 2nd hits in CDH1 during hereditary diffuse gastric cancer syndrome progression. Gastroenterology. 2009;136:2137-48 pubmed publisher
    ..We quantified the different 2nd hits in CDH1 occurring in neoplastic lesions from HDGC patients...
  14. Niemann S, Muller U. Mutations in SDHC cause autosomal dominant paraganglioma, type 3. Nat Genet. 2000;26:268-70 pubmed
    ..Between 10% and 50% of cases are familial and are transmitted as autosomal dominant traits with incomplete and age-dependent penetrance...
  15. Hemminki K. Genetic Epidemiology--science and ethics on familial cancers. Acta Oncol. 2001;40:439-44 pubmed
    ..The results have implications for design of genetic studies and for clinical counselling...
  16. Thai T, Du F, Tsan J, Jin Y, Phung A, Spillman M, et al. Mutations in the BRCA1-associated RING domain (BARD1) gene in primary breast, ovarian and uterine cancers. Hum Mol Genet. 1998;7:195-202 pubmed
    ..These findings suggest an occasional role for BARD1 mutations in the development of sporadic and hereditary tumors...
  17. Richards M. Familial syndromes associated with thyroid cancer in the era of personalized medicine. Thyroid. 2010;20:707-13 pubmed publisher
    ..The clinician must also be knowledgeable in recognizing the possibility of an underlying familial syndrome when a patient presents with thyroid cancer. ..
  18. Framp A. Diffuse gastric cancer. Gastroenterol Nurs. 2006;29:232-6; quiz 236-8 pubmed
    ..The pathophysiology of diffuse gastric cancer, including prognosis, diagnosis, and treatment, along with important patient considerations is highlighted. ..
  19. Bianco C, Brittenham G, Gilcher R, Gordeuk V, Kushner J, Sayers M, et al. Maintaining iron balance in women blood donors of childbearing age: summary of a workshop. Transfusion. 2002;42:798-805 pubmed
  20. Martin S, Sausen M, Joseph A, Biggs D, Kingham B, Martin E. BRCA1 E1644X: a deleterious mutation in an African American individual with early onset breast cancer. Breast Cancer Res Treat. 2009;113:393-5 pubmed publisher
    ..Clinical history suggests paternal transmission of the deleterious allele, and tumor polymorphisms provide some insight into the ancestral origins of the mutation. ..
  21. Wiman K. Restoration of wild-type p53 function in human tumors: strategies for efficient cancer therapy. Adv Cancer Res. 2007;97:321-38 pubmed
    ..Screening of chemical libraries has allowed identification of small molecules that reactivate mutant p53 and trigger mutant p53-dependent apoptosis. These novel strategies raise hopes for more efficient cancer therapy. ..
  22. Cetta F. [Gastro-enteropathic neuroendocrine tumors in diverse hereditary multiple tumor syndromes of multiple endocrine neoplasms (MEN)]. G Chir. 2003;24:5-10 pubmed
  23. Prakash S, Prakash L. Translesion DNA synthesis in eukaryotes: a one- or two-polymerase affair. Genes Dev. 2002;16:1872-83 pubmed
  24. Pistorius S, Schackert H, Saeger H. [Inherited tumors of the gastrointestinal tract. Diagnosis and therapeutic aspects]. Chirurg. 2007;78:561-71; quiz 572 pubmed
  25. Gałczyński K, Nowakowski Ł, Rechberger T, Semczuk A. Should we be more aware of endometrial cancer in adolescents?. Dev Period Med. 2016;20:169-173 pubmed
    ..In the present article, we briefly summarize the principal clinical correlates associated with endometrial cancer in adolescents. ..
  26. Greenblatt M, Brody L, Foulkes W, Genuardi M, Hofstra R, Olivier M, et al. Locus-specific databases and recommendations to strengthen their contribution to the classification of variants in cancer susceptibility genes. Hum Mutat. 2008;29:1273-81 pubmed publisher
    ..4) Variants should only be classified as pathogenic if more than one type of evidence has been considered. 5) All instances of all variants should be recorded. ..
  27. Kohno T, Yokota J. [Genetic factors involved in cancer susceptibility]. Gan To Kagaku Ryoho. 2002;29:1255-62 pubmed
    ..Case-control studies, mainly focusing on the genes involved in drug metabolisms and DNA repair, have shown that dozens of genes are associated with cancer risks. ..
  28. Hermsen B, von Mensdorff Pouilly S, Fabry H, Winters H, Kenemans P, Verheijen R, et al. Lobulitis is a frequent finding in prophylactically removed breast tissue from women at hereditary high risk of breast cancer. J Pathol. 2005;206:220-3 pubmed
    ..This novel finding implies an immune reaction to an as yet unidentified antigen frequently present in women at hereditary high risk of breast cancer, possibly as part of an early carcinogenic event. ..
  29. Rich T, Salazar M. Genetic risk assessment, counseling and testing. Surg Oncol Clin N Am. 2009;18:19-38, vii pubmed publisher
    ..Surgical oncologists are likely to encounter patients with hereditable cancer syndromes in their practice and should be able to identify patients appropriate for genetic assessment and counseling. ..
  30. Niemann S. Paraganglioma syndrome and mutations of the SDHC gene. JAMA. 2006;295:625; author reply 625 pubmed
  31. Cascon A, Landa I, López Jiménez E, Díez Hernández A, Buchta M, Montero Conde C, et al. Molecular characterisation of a common SDHB deletion in paraganglioma patients. J Med Genet. 2008;45:233-8 pubmed
    ..Moreover, we found for the first time a patient with neuroblastoma and a germline SDHB deletion, but it seems that this paediatric neoplasia in a pheochromocytoma family is not a key component of this disease. ..
  32. Algaba F, Arce Y, Trias I, Santaularia J, Antonio Rosales A. [Usefulness of the present renal cell carcinoma classifications]. Actas Urol Esp. 2006;30:372-85 pubmed
  33. Sudarshan S, Linehan W, Neckers L. HIF and fumarate hydratase in renal cancer. Br J Cancer. 2007;96:403-7 pubmed
    ..These biochemical derangements may interfere with oxygen homeostasis and result in a cellular environment conducive to tumour formation. ..
  34. Ponti G, Luppi G, Losi L, Giannetti A, Seidenari S. Leser-Trélat syndrome in patients affected by six multiple metachronous primitive cancers. J Hematol Oncol. 2010;3:2 pubmed publisher
  35. Ward I, Minn K, van Deursen J, Chen J. p53 Binding protein 53BP1 is required for DNA damage responses and tumor suppression in mice. Mol Cell Biol. 2003;23:2556-63 pubmed
    ..These data indicate that 53BP1 acts downstream of ATM and upstream of Chk2 in the DNA damage response pathway and is involved in tumor suppression. ..
  36. Isidro G, Laranjeira F, Pires A, Leite J, Regateiro F, Castro e Sousa F, et al. Germline MUTYH (MYH) mutations in Portuguese individuals with multiple colorectal adenomas. Hum Mutat. 2004;24:353-4 pubmed
    ..In addition, we here report 3 mutations (c.340T>C [p.Y114H]; c.503G>A [p.R168H]; and c.1186_1187insGG [p.E396fsX437]) which, to our knowledge, have not been previously described. ..
  37. Castells A, Andreu M. [EPICOLON project: contribution to the knowledge of Lynch syndrome and other familial or hereditary colorectal cancer]. Med Clin (Barc). 2007;128:55-60 pubmed
  38. Aldred M, Talacko A, Savarirayan R. Ossifying fibroma of the face and hyperparathyroidism in a chronic hemodialysis patient. Nephrologie. 2004;25:33; author reply 33 pubmed
  39. Zhang X, Liang Y, He P, Yang S, Wang H, Chen J, et al. Identification of the cylindromatosis tumor-suppressor gene responsible for multiple familial trichoepithelioma. J Invest Dermatol. 2004;122:658-64 pubmed
    ..2355-2358delCAGA. The study firstly identified the cylindromatosis gene responsible for MFT and showed that different mutations of the CYLDI gene can give rise to distinct clinical and histological expression such as FC and MFT...
  40. Tavtigian S, Greenblatt M, Lesueur F, Byrnes G. In silico analysis of missense substitutions using sequence-alignment based methods. Hum Mutat. 2008;29:1327-36 pubmed publisher
    ..We conclude that carefully validated computational algorithms, in the context of other evidence, can be an important tool for classification of missense variants. ..
  41. Beresford L, Fernandez C, Cummings E, Sanderson S, Ming Yu W, Giacomantonio M. Mediastinal polyembryoma associated with Klinefelter syndrome. J Pediatr Hematol Oncol. 2003;25:321-3 pubmed
    ..Most mediastinal germ cell tumors are treated with adjuvant therapy. He was managed with surgical excision alone and is well at 2 years follow-up. The rationale for this approach is discussed...
  42. Armstrong R, Sridhar M, Greenhalgh K, Howell L, Jones C, Landes C, et al. Phaeochromocytoma in children. Arch Dis Child. 2008;93:899-904 pubmed publisher
    ..This review provides guidance on the aetiology, investigation, management, histopathology, genetics and follow-up of children with a phaeochromocytoma. ..
  43. Al Daraji W, Al Razag Z, Craven N, Twaij Z. Multiple hereditary facial papules. Clin Exp Dermatol. 2005;30:309-10 pubmed
  44. Chen F, Sundaram V, Chew T, Ladabaum U. Advanced-Stage Colorectal Cancer in Persons Younger Than 50 Years Not Associated With Longer Duration of Symptoms or Time to Diagnosis. Clin Gastroenterol Hepatol. 2017;15:728-737.e3 pubmed publisher
    ..It remains to be determined whether subgroups of persons at risk for young-onset CRC who benefit from early screening can be identified. ..
  45. Badeloe S, van Geel M, van Steensel M, Steijlen P, Poblete Gutierrez P, Frank J. [From gene to disease; cutaneous leiomyomatosis]. Ned Tijdschr Geneeskd. 2007;151:300-4 pubmed
    ..This syndrome is known as hereditary leiomyomatosis and renal cell cancer (HLRCC; OMIM 605839). Both disorders result from heterozygous germline mutations in the fumarate hydratase (FH) gene. ..
  46. Marshall M, Solomon S. Hereditary breast-ovarian cancer: clinical findings and medical management. Plast Surg Nurs. 2007;27:124-7 pubmed
    ..Upon receipt of results, healthcare providers offer the patient with appropriate medical management recommendations. ..
  47. Hemminki K, Sundquist J, Bermejo J. How common is familial cancer?. Ann Oncol. 2008;19:163-7 pubmed
    ..The familial proportion depended on the prevalence of the particular cancer and on its familial risk. The derived familial proportions can justifiably be used in statements 'X% of the patients had a family history of the cancer'. ..
  48. Nguyen C, Campbell S, Novick A. Choice of operation for clinically localized renal tumor. Urol Clin North Am. 2008;35:645-55; vii pubmed publisher
    ..In all these discussions we assume that a proactive approach to treatment is indicated and desired, recognizing that active surveillance is always an additional option to consider in certain subpopulations such as the elderly or infirm. ..
  49. Barana D, van der Klift H, Wijnen J, Longa E, Radice P, Cetto G, et al. Spectrum of genetic alterations in Muir-Torre syndrome is the same as in HNPCC. Am J Med Genet A. 2004;125A:318-9 pubmed
  50. Pasini B, McWhinney S, Bei T, Matyakhina L, Stergiopoulos S, Muchow M, et al. Clinical and molecular genetics of patients with the Carney-Stratakis syndrome and germline mutations of the genes coding for the succinate dehydrogenase subunits SDHB, SDHC, and SDHD. Eur J Hum Genet. 2008;16:79-88 pubmed
    ..We conclude that succinate dehydrogenase deficiency may be the cause of a subgroup of GISTs and this offers a therapeutic target for GISTs that may not respond to STI571 and its analogs. ..
  51. Dalle S, Martin Denavit T, Thomas L. [Genotypic hypervariability of melanoma: a therapeutic challenge]. Med Sci (Paris). 2006;22:178-82 pubmed
    ..It is hope that this better understanding of the biologic features of melanoma and the mechanisms underlying tumor-induced immunosuppression will lead to efficaceous targeted therapy. ..
  52. de Alava E. Molecular pathology in sarcomas. Clin Transl Oncol. 2007;9:130-44 pubmed
    ..This review describes diverse types of molecular alterations as well, their utility in the clinical domain, as well as implications for the pathologist in translational research in sarcomas...
  53. van Oostrom I, Meijers Heijboer H, Duivenvoorden H, Bröcker Vriends A, van Asperen C, Sijmons R, et al. The common sense model of self-regulation and psychological adjustment to predictive genetic testing: a prospective study. Psychooncology. 2007;16:1121-9 pubmed
    ..Identifying unhelpful representations and cognitive restructuring may be appropriate interventions to help distressed individuals undergoing genetic susceptibility testing for a BRCA1/2 or a HNPCC-related mutation...
  54. Kershenobich D. [Molecular biology in gastroenterology]. Rev Invest Clin. 2003;55:181-5 pubmed
  55. Ponti G, Ponz de Leon M, Maffei S, Pedroni M, Losi L, Di Gregorio C, et al. Attenuated familial adenomatous polyposis and Muir-Torre syndrome linked to compound biallelic constitutional MYH gene mutations. Clin Genet. 2005;68:442-7 pubmed
    ..These findings suggest that patients with MTS phenotype that include colonic polyposis should be screened for MYH gene mutations...
  56. Steel M. Molecular biology and surgical practice. Surgeon. 2005;3:145-9 pubmed
  57. Monne M, Piras G, Fancello P, Santona M, Uras A, Landriscina G, et al. Identification of a founder BRCA2 mutation in Sardinian breast cancer families. Fam Cancer. 2007;6:73-9 pubmed
    ..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...
  58. Honjo Y, Bian Y, Kawakami K, Molinolo A, Longenecker G, Boppana R, et al. TGF-beta receptor I conditional knockout mice develop spontaneous squamous cell carcinoma. Cell Cycle. 2007;6:1360-6 pubmed
    ..This is the first demonstration that loss of TbetaRI can lead to spontaneous tumor formation. These mice can serve as a unique mouse model of SCC to evaluate the tumorigenicity and effect of anti-cancer therapeutics...
  59. Rieder H, Sina Frey M, Ziegler A, Hahn S, Przypadlo E, Kress R, et al. German national case collection of familial pancreatic cancer - clinical-genetic analysis of the first 21 families. Onkologie. 2002;25:262-6 pubmed
    ..In order to evaluate the characteristics of familial PC, a German national case collection for familial pancreas cancer (FaPaCa) was established...
  60. Reuss D, von Deimling A. Hereditary tumor syndromes and gliomas. Recent Results Cancer Res. 2009;171:83-102 pubmed publisher
    ..Therefore research on hereditary syndromes contributes substantially to our understanding of tumor formation...
  61. Knudson A. Cancer genetics. Am J Med Genet. 2002;111:96-102 pubmed
    ..The knowledge gained is stimulating new approaches to the treatment and prevention of cancer...
  62. Udayakumar D, Tsao H. Melanoma genetics: an update on risk-associated genes. Hematol Oncol Clin North Am. 2009;23:415-29, vii pubmed publisher
    ..The goal of personalized melanoma risk prediction is within our reach, although true clinical use has yet to be established...
  63. Klatte T, Pantuck A. Molecular biology of renal cortical tumors. Urol Clin North Am. 2008;35:573-80; vi pubmed publisher
    ..All these molecular pathways are involved in RCC biology, tumorigenesis, and progression, and serve as the source of new rational treatment strategies based on the design of small molecule inhibitors directed against their targets...
  64. Viana D, Goes J, Coy C, de Lourdes Setsuko Ayrizono M, Lima C, Lopes Cendes I. Family history of cancer in Brazil: is it being used?. Fam Cancer. 2008;7:229-32 pubmed publisher
    ..Our findings expose an important problem in health education that could reflect negatively in the quality of medical assistance to individuals at risk for familial cancer...
  65. Kakagia D, Lambropoulou M, Alexiadis G. Case 3. Brooke-Spiegler syndrome. Clin Exp Dermatol. 2004;29:335-6 pubmed
  66. Aretz S, Stienen D, Uhlhaas S, Stolte M, Entius M, Loff S, et al. High proportion of large genomic deletions and a genotype phenotype update in 80 unrelated families with juvenile polyposis syndrome. J Med Genet. 2007;44:702-9 pubmed
    ..In patients with juvenile polyposis syndrome (JPS) the frequency of large genomic deletions in the SMAD4 and BMPR1A genes was unknown...
  67. Couch F. Is BRCA1 associated with familial breast cancer in India?. Cancer Biol Ther. 2002;1:22-3 pubmed
  68. Palmero E, Ashton Prolla P, da Rocha J, Vargas F, Kalakun L, Blom M, et al. Clinical characterization and risk profile of individuals seeking genetic counseling for hereditary breast cancer in Brazil. J Genet Couns. 2007;16:363-71 pubmed
    ..The identification and understanding of these barriers is essential to develop specific strategies to effectively achieve cancer risk reduction in this and other countries were clinical cancer genetics is not yet fully established...
  69. Jacobs L, Giarelli E. A model of survivorship in cancer genetic care. Semin Oncol Nurs. 2004;20:196-202 pubmed
    ..To propose a shift in the paradigm of survivorship in genetic cancer care...
  70. Bertagnolli M. Surgical prevention of cancer. J Clin Oncol. 2005;23:324-32 pubmed
    ..This article briefly reviews the use of surgery to prevent some of the most common epithelial malignancies, as well as some of the genetic cancer syndromes for which surgery plays an important role in improving survival...
  71. Lopez Serrano A. [Risk factors and early diagnosis of pancreatic cancer]. Gastroenterol Hepatol. 2010;33:382-90 pubmed publisher
    ..In this scenario, only endoscopic ultrasound with cytological analysis of suspicious pancreatic lesions has proved to be useful...
  72. Lee D, Grossman M, Schneiderman P, Celebi J. Genetics of skin appendage neoplasms and related syndromes. J Med Genet. 2005;42:811-9 pubmed
  73. Zbar B, Klausner R, Linehan W. Studying cancer families to identify kidney cancer genes. Annu Rev Med. 2003;54:217-33 pubmed
  74. Jiang Y, Wan Y, Wang Z, Zhao B, Zhu J, Huang Y. [Germline E-cadherin gene mutation screening in familial gastric cancer kindreds]. Zhonghua Wai Ke Za Zhi. 2004;42:914-7 pubmed
    ..To evaluate the frequency and nature of E-cadherin gene (CDH1) germline mutations in familial gastric cancer kindreds of china...
  75. Sonoda Y, Barakat R. Screening and the prevention of gynecologic cancer: endometrial cancer. Best Pract Res Clin Obstet Gynaecol. 2006;20:363-77 pubmed
    ..Screening for these cancers is not effective and often leads to additional unnecessary tests; thus, it is not currently recommended in the general population...
  76. Mannelli M, Ercolino T, Giachè V, Simi L, Cirami C, Parenti G. Genetic screening for pheochromocytoma: should SDHC gene analysis be included?. J Med Genet. 2007;44:586-7 pubmed
  77. Suarez C, Rodrigo J, Ferlito A, Cabanillas R, Shaha A, Rinaldo A. Tumours of familial origin in the head and neck. Oral Oncol. 2006;42:965-78 pubmed
    ..The elucidation of the cellular processes affected by dysfunction in familial tumours of the head and neck may serve to identify potential targets for future therapeutic interventions...
  78. Burgdorf W. Cancer-associated genodermatoses: a personal history. Exp Dermatol. 2006;15:653-66 pubmed
    ..The latest advances in the molecular genetics of the disorders are also summarized...
  79. Gilfillan C. Review of the genetics of thyroid tumours: diagnostic and prognostic implications. ANZ J Surg. 2010;80:33-40 pubmed publisher
  80. Rangel López A, Pina Sanchez P, Salcedo M. [Genetic variations of the tumor suppressor TP53: outstanding and strategies of analysis]. Rev Invest Clin. 2006;58:254-64 pubmed
  81. Hanson H, Hodgson S. Cancer genetics and reproduction. Best Pract Res Clin Obstet Gynaecol. 2010;24:3-18 pubmed publisher
  82. McKelvey K, Siraj S, Kelsay J, Batres F. Male infertility associated with hereditary leiomyomatosis and renal cell carcinoma. Fertil Steril. 2010;93:2075.e1-2 pubmed publisher
    ..To report a novel association between a cancer predisposition syndrome (hereditary leiomyomatosis and renal cell carcinoma [HLRCC]) and male infertility...
  83. Roukos D, Kappas A, Tsianos E. Role of surgery in the prophylaxis of hereditary cancer syndromes. Ann Surg Oncol. 2002;9:607-9 pubmed
  84. Kakagia D, Alexiadis G, Kiziridou A, Lambropoulou M. Brooke-Spiegler syndrome with parotid gland involvement. Eur J Dermatol. 2004;14:139-41 pubmed
    ..The association of BSS with salivary gland tumours, emphasizes the necessity of thorough salivary gland examination in all patients with skin lesions. Knowledge of the genetic background of BSS allows for genetic counseling of patients...
  85. Stewart L, Glenn G, Toro J. Cutaneous leiomyomas: a clinical marker of risk for hereditary leiomyomatosis and renal cell cancer. Dermatol Nurs. 2006;18:335-41; quiz 342 pubmed
  86. Meiser B. Psychological impact of genetic testing for cancer susceptibility: an update of the literature. Psychooncology. 2005;14:1060-74 pubmed
    ..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...
  87. Dahia P. Evolving concepts in pheochromocytoma and paraganglioma. Curr Opin Oncol. 2006;18:1-8 pubmed
    ..The pheochromocytoma field has recently undergone a paradigm shift. This review will highlight some of these novel findings, including their impact on our understanding of the disease biology and influence on clinical management...
  88. Ullrich N. Inherited disorders as a risk factor and predictor of neurodevelopmental outcome in pediatric cancer. Dev Disabil Res Rev. 2008;14:229-37 pubmed publisher
    ..This review outlines the major tumor- and treatment-related neurodevelopmental sequelae in pediatric cancer patients, with particular attention to children with an underlying inheritable disorder...