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Journal articles on the topic 'Hereditary Syndromes'

Author: Grafiati

Published: 4 June 2021

Last updated: 1 February 2022

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1

Radlovic, Nedeljko. "Hereditary hyperbilirubinemias." Srpski arhiv za celokupno lekarstvo 142, no. 3-4 (2014): 257–60. http://dx.doi.org/10.2298/sarh1404257r.

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Inherited disorders of bilirubin metabolism involve four autosomal recessive syndromes: Gilbert, Crigler- Najjar, Dubin-Johnson and Rotor, among which the first two are characterized by unconjugated and the second two by conjugated hyperbilirubinemia. Gilbert syndrome occurs in 2%-10% of general population, while others are rare. Except for Crigler-Najjar syndrome, hereditary hyperbilirubinemias belong to benign disorders and thus no treatment is required.

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2

Giusti, Francesca, Loredana Cavalli, Tiziana Cavalli, and Maria Luisa Brandi. "Hereditary Hyperparathyroidism Syndromes." Journal of Clinical Densitometry 16, no. 1 (January 2013): 69–74. http://dx.doi.org/10.1016/j.jocd.2012.11.003.

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3

Callenbach, Petra M. C., and Oebele F. Brouwer. "Hereditary epilepsy syndromes." Clinical Neurology and Neurosurgery 99, no. 3 (August 1997): 159–71. http://dx.doi.org/10.1016/s0303-8467(97)00019-x.

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4

Kidambi, Trilokesh D., Divyanshoo R. Kohli, N. Jewel Samadder, and Aparajita Singh. "Hereditary Polyposis Syndromes." Current Treatment Options in Gastroenterology 17, no. 4 (November 8, 2019): 650–65. http://dx.doi.org/10.1007/s11938-019-00251-4.

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5

Frank, Thomas S. "Hereditary Cancer Syndromes." Archives of Pathology & Laboratory Medicine 125, no. 1 (January 1, 2001): 85–90. http://dx.doi.org/10.5858/2001-125-0085-hcs.

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Abstract Objective.—To summarize the biological basis, clinical implications, identification, and medical management of syndromes associated with increased risk of common adult cancers. Data Sources.—Recent studies and data available from molecular and clinical analysis of genes responsible for autosomal-dominant inheritance of cancer risk. Data Synthesis.—Several hereditary cancer syndromes have been identified for which there are increasingly effective diagnostic and management options. Specific hereditary susceptibility syndromes have been characterized that increase the risk of malignancies of the breast, ovary, colon, endometrium, and endocrine organs. Following a summary of the biological basis of hereditary cancer risk in adults, the identification of such syndromes by clinical and laboratory means is reviewed. Finally, management options for individuals with these syndromes are summarized. Conclusions.—Advances in gene discovery have allowed the diagnosis of recently characterized hereditary cancer syndromes to enhance medical management for individuals with inherited susceptibility to common cancers.

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6

Piombino, Claudia, Laura Cortesi, Matteo Lambertini, Kevin Punie, Giovanni Grandi, and Angela Toss. "Secondary Prevention in Hereditary Breast and/or Ovarian Cancer Syndromes Other Than BRCA." Journal of Oncology 2020 (July 14, 2020): 1–10. http://dx.doi.org/10.1155/2020/6384190.

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BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndromes are among the best-known and most extensively studied hereditary cancer syndromes. Nevertheless, many patients who proved negative at BRCA genetic testing bring pathogenic mutations in other suppressor genes and oncogenes associated with hereditary breast and/or ovarian cancers. These genes include TP53 in Li–Fraumeni syndrome, PTEN in Cowden syndrome, mismatch repair (MMR) genes in Lynch syndrome, CDH1 in diffuse gastric cancer syndrome, STK11 in Peutz–Jeghers syndrome, and NF1 in neurofibromatosis type 1 syndrome. To these, several other genes can be added that act jointly with BRCA1 and BRCA2 in the double-strand break repair system, such as PALB2, ATM, CHEK2, NBN, BRIP1, RAD51C, and RAD51D. Management of primary and secondary cancer prevention in these hereditary cancer syndromes is crucial. In particular, secondary prevention by screening aims to discover precancerous lesions or cancers at their initial stages because early detection could allow for effective treatment and a full recovery. The present review aims to summarize the available literature and suggest proper screening strategies for hereditary breast and/or ovarian cancer syndromes other than BRCA.

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7

Vehapoğlu Türkmen, Aysel, Selçuk Uzuner, and Necati Taşkın. "PFAPA Syndrome and Hereditary Periodic Fever Syndromes." Journal of Pediatric Infection 6, no. 1 (March 15, 2012): 24–29. http://dx.doi.org/10.5152/ced.2012.05.

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8

Cone, Molly. "Hamartomatous Polyps and Associated Syndromes." Clinics in Colon and Rectal Surgery 29, no. 04 (November 21, 2016): 330–35. http://dx.doi.org/10.1055/s-0036-1582441.

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AbstractHamartomatous polyps of the gastrointestinal tract can occur sporadically, however, for several hereditary syndromes, their presence is one of the major clinical features. Peutz–Jeghers syndrome, juvenile polyposis syndrome, and the PTEN hamartoma syndromes are autosomal dominant inherited disorders that predispose to formation of such polyps, especially in the colon and rectum. These can lead to increased colorectal cancer risk and should be followed and managed appropriately. In this article, the three major hereditary hamartomatous syndromes are described, including presentation, colorectal surveillance, and management.

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9

Malkin, David, Kim E. Nichols, Kristin Zelley, and Joshua D. Schiffman. "Predisposition to Pediatric and Hematologic Cancers: A Moving Target." American Society of Clinical Oncology Educational Book, no. 34 (May 2014): e44-e55. http://dx.doi.org/10.14694/edbook_am.2014.34.e44.

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Our understanding of hereditary cancer syndromes in children, adolescents, and young adults continues to grow. In addition, we now recognize the wide variation in tumor spectrum found within each specific cancer predisposition syndrome including the risk for hematologic malignancies. An increased understanding of the genetic mutations, biologic consequences, tumor risk, and clinical management of these syndromes will improve patient outcome. In this article, we illustrate the diversity of molecular mechanisms by which these disorders develop in both children and adults with a focus on Li-Fraumeni syndrome, hereditary paraganglioma syndrome, DICER1 syndrome, and multiple endocrine neoplasia syndrome. This is followed by a detailed discussion of adult-onset tumors that can occur in the pediatric population including basal cell carcinoma, colorectal cancer, medullary thyroid cancer, and adrenal cortical carcinoma, and the underlying hereditary cancer syndromes that these tumors could indicate. Finally, the topic of leukemia predisposition syndromes is explored with a specific focus on the different categories of syndromes associated with leukemia risk (genetic instability/DNA repair syndromes, cell cycle/differentiation, bone marrow failure syndromes, telomere maintenance, immunodeficiency syndromes, and transcription factors/pure familial leukemia syndromes). Throughout this article, special attention is made to clinical recognition of these syndromes, genetic testing, and management with early tumor surveillance and screening.

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10

Simon, Anna, and Jos W. M. van der Meer. "Pathogenesis of familial periodic fever syndromes or hereditary autoinflammatory syndromes." American Journal of Physiology-Regulatory, Integrative and Comparative Physiology 292, no. 1 (January 2007): R86—R98. http://dx.doi.org/10.1152/ajpregu.00504.2006.

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Familial periodic fever syndromes, otherwise known as hereditary autoinflammatory syndromes, are inherited disorders characterized by recurrent episodes of fever and inflammation. The general hypothesis is that the innate immune response in these patients is wrongly tuned, being either too sensitive to very minor stimuli or turned off too late. The genetic background of the major familial periodic fever syndromes has been unraveled, and through research into the pathophysiology, a clearer picture of the innate immune system is emerging. After an introduction on fever, interleukin-1β and inflammasomes, which are involved in the majority of these diseases, this manuscript offers a detailed review of the pathophysiology of the cryopyrin-associated periodic syndromes, familial Mediterranean fever, the syndrome of pyogenic arthritis, pyoderma gangrenosum and acne, Blau syndrome, TNF-receptor-associated periodic syndrome and hyper-IgD and periodic fever syndrome. Despite recent major advances, there are still many questions to be answered regarding the pathogenesis of these disorders.

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11

Kastner, Daniel L. "Hereditary Periodic Fever Syndromes." Hematology 2005, no. 1 (January 1, 2005): 74–81. http://dx.doi.org/10.1182/asheducation-2005.1.74.

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Abstract The hereditary periodic fevers are a group of Mendelian disorders characterized by seemingly unprovoked fever and localized inflammation. Recent data indicate that these illnesses represent inborn errors in the regulation of innate immunity. Pyrin, the protein mutated in familial Mediterranean fever, defines an N-terminal domain found in a large family of proteins involved in inflammation and apoptosis. Through this domain pyrin may play a role in the regulation of interleukin (IL)-1β, nuclear factor (NF)-κB, and leukocyte apoptosis. Cryopyrin/NALP3, another protein in this family, is mutated in three other hereditary febrile syndromes and participates in the inflammasome, a newly recognized macromolecular complex crucial to IL-1β activation. Somewhat unexpectedly, mutations in the 55 kDa receptor for tumor necrosis factor also give rise to a dominantly inherited periodic fever syndrome, rather than immunodeficiency, a finding that has stimulated important investigations into both pathogenesis and treatment. Finally, the discovery of the genetic basis of the hyperimmunoglobulinemia D with periodic fever syndrome suggests an as yet incompletely understood connection between the mevalonate pathway and the regulation of cytokine production. These insights extend our understanding of the regulation of innate immunity in man, while providing the conceptual basis for the rational design of targeted therapies, both for the hereditary periodic fevers themselves and other inflammatory disorders as well.

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12

Golounina, Olga O., Valentin V. Fadeev, and Zhanna E. Belaya. "Hereditary syndromes with signs of premature aging." Osteoporosis and Bone Diseases 22, no. 3 (June 1, 2020): 4–18. http://dx.doi.org/10.14341/osteo12331.

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Aging is a multi-factor biological process that inevitably affects everyone. Degenerative processes, starting at the cellular and molecular levels, gradually influence the change in the functional capabilities of all organs and systems. Progeroid syndromes (from Greek. progērōs prematurely old), or premature aging syndromes, represent clinically and genetically heterogeneous group of rare hereditary diseases characterized by accelerated aging of the body. Progeria and segmental progeroid syndromes include more than a dozen diseases, but the most clear signs of premature aging are evident in Hutchinson-Guilford Progeria Syndrome and Werner Syndrome. This review summarizes the latest scientific data reflecting the etiology and clinical picture of progeria and segmental progeroid syndromes in humans. Molecular mechanisms of aging are considered, using the example of progeroid syndromes. Modern possibilities and potential ways of influencing the mechanisms of the development of age-related changes are discussed. Further study of genetic causes, as well as the development of treatment for progeria and segmental progeroid syndromes, may be a promising direction for correcting age-related changes and increasing life expectancy.

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13

Mork, Maureen E., Y. Nancy You, Jun Ying, Sarah A. Bannon, Patrick M. Lynch, Miguel A. Rodriguez-Bigas, and Eduardo Vilar. "High Prevalence of Hereditary Cancer Syndromes in Adolescents and Young Adults With Colorectal Cancer." Journal of Clinical Oncology 33, no. 31 (November 1, 2015): 3544–49. http://dx.doi.org/10.1200/jco.2015.61.4503.

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Purpose Established guidelines recommend evaluation for hereditary cancer syndromes in patients younger than 50 years diagnosed with colorectal cancer (CRC). This group has been well described in the literature; however, patients diagnosed as adolescents and young adults are not well represented in CRC studies. Here, we define the clinical profile, including the extent of hereditary cancer syndromes and family history of cancer, in patients diagnosed with CRC at age 35 or younger. Patients and Methods We reviewed patients who underwent genetic counseling at our institution during 5 years (2009 to 2013). Data were collected regarding demographics, clinicopathologic information, tumor and genetic testing, and family history. Patients with an identified hereditary cancer syndrome were compared with those without a syndrome. Results Of the 193 patients with evaluable data, 35% had an identifiable hereditary cancer syndrome, including 23 with Lynch syndrome, 22 with mutation-negative Lynch syndrome, 16 with familial adenomatous polyposis, two with constitutional mismatch repair deficiency, two with biallelic MUTYH mutations, and one with Li-Fraumeni syndrome. Patients without a hereditary syndrome more frequently presented with metastatic disease, whereas patients with a syndrome were more likely to present at earlier stages and to have a family history of cancer. Nevertheless, a substantial proportion of the hereditary syndromes (19%) were diagnosed in individuals with no family history of the disease. Conclusion We conclude that patients diagnosed with CRC at age 35 years or younger should receive genetic counseling regardless of their family history and phenotype.

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14

Carballal, Sabela, Maria Liz Leoz, Leticia Moreira, Teresa Ocaña, and Francesc Balaguer. "Hereditary colorectal cancer syndromes." Colorectal Cancer 3, no. 1 (February 2014): 57–76. http://dx.doi.org/10.2217/crc.13.80.

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15

Jesus, Adriana Almeida, João Bosco Oliveira, Maria Odete Esteves Hilário, Maria Teresa R. A. Terreri, Erika Fujihira, Mariana Watase, Magda Carneiro-Sampaio, and Clovis Artur Almeida Silva. "Pediatric hereditary autoinflammatory syndromes." Jornal de Pediatria 86, no. 5 (October 14, 2010): 353–66. http://dx.doi.org/10.2223/jped.2015.

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16

Colvin, Hugh, Ken Yamamoto, Noriko Wada, and Masaki Mori. "Hereditary Gastric Cancer Syndromes." Surgical Oncology Clinics of North America 24, no. 4 (October 2015): 765–77. http://dx.doi.org/10.1016/j.soc.2015.06.002.

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17

Connor, Ashton A., and Steven Gallinger. "Hereditary Pancreatic Cancer Syndromes." Surgical Oncology Clinics of North America 24, no. 4 (October 2015): 733–64. http://dx.doi.org/10.1016/j.soc.2015.06.007.

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18

Snyder, Carrie, and Heather Hampel. "Hereditary Colorectal Cancer Syndromes." Seminars in Oncology Nursing 35, no. 1 (February 2019): 58–78. http://dx.doi.org/10.1016/j.soncn.2018.12.011.

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19

Haas, Naomi B., and Katherine L. Nathanson. "Hereditary Kidney Cancer Syndromes." Advances in Chronic Kidney Disease 21, no. 1 (January 2014): 81–90. http://dx.doi.org/10.1053/j.ackd.2013.10.001.

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20

Greco, Karen E., and Suzanne Mahon. "Common hereditary cancer syndromes." Seminars in Oncology Nursing 20, no. 3 (August 2004): 164–77. http://dx.doi.org/10.1053/j.soncn.2004.04.003.

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21

Wells, Katerina, and Paul E. Wise. "Hereditary Colorectal Cancer Syndromes." Surgical Clinics of North America 97, no. 3 (June 2017): 605–25. http://dx.doi.org/10.1016/j.suc.2017.01.009.

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22

Mehra, Mukul. "HEREDITARY COLON CANCER SYNDROMES." Gastroenterology Nursing 32, no. 2 (March 2009): 146. http://dx.doi.org/10.1097/01.sga.0000349581.66569.d8.

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23

Davidson, Susan A. "Hereditary Gynecologic Cancer Syndromes." Postgraduate Obstetrics & Gynecology 30, no. 1 (January 2010): 1–7. http://dx.doi.org/10.1097/01.pgo.0000364891.73439.70.

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24

&NA;. "Hereditary Gynecologic Cancer Syndromes." Postgraduate Obstetrics & Gynecology 30, no. 1 (January 2010): 8. http://dx.doi.org/10.1097/01.pgo.0000364892.50568.41.

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25

TAYLOR, MATTHEW R. G. "Identifying Hereditary Cancer Syndromes." Internal Medicine News 41, no. 3 (February 2008): 34. http://dx.doi.org/10.1016/s1097-8690(08)70091-x.

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26

McDermott, M. "Hereditary periodic fever syndromes." Netherlands Journal of Medicine 59, no. 3 (September 2001): 118–25. http://dx.doi.org/10.1016/s0300-2977(01)00149-8.

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27

Haggitt, Rodger C., and Brian J. Reid. "Hereditary Gastrointestinal Polyposis Syndromes." American Journal of Surgical Pathology 10, no. 12 (December 1986): 871–87. http://dx.doi.org/10.1097/00000478-198612000-00006.

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28

Chitkara, Puja, Silvia Stojanov, and Daniel L. Kastner. "The Hereditary Autoinflammatory Syndromes." Pediatric Infectious Disease Journal 26, no. 4 (April 2007): 353–54. http://dx.doi.org/10.1097/01.inf.0000258777.86510.da.

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29

Garber, Judy E., and Kenneth Offit. "Hereditary Cancer Predisposition Syndromes." Journal of Clinical Oncology 23, no. 2 (January 10, 2005): 276–92. http://dx.doi.org/10.1200/jco.2005.10.042.

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Cancer genetics is increasingly becoming integrated into the practice of modern medical oncology. The ability to distinguish a growing proportion of the 5% to 10% of all cancers that develop in individuals who have inherited a genetic mutation conferring heightened susceptibility to specific cancers may permit targeted efforts in cancer surveillance and prevention. While these individuals comprise a small proportion of the overall burden of cancer, strategies successful in reducing their remarkable cancer risks may be generalizable to the broader population. In this review, we highlight the most common hereditary cancer syndromes, most attributable to genes inherited in an autosomal dominant manner with incomplete penetrance, and a number of rare syndromes in which particular progress has been made. The prevalence, penetrance, tumor spectrum, and underlying genetic defects are discussed and summarized in a large table in which a more comprehensive enumeration of syndromes is provided.

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30

Gala, Manish, and Daniel C. Chung. "Hereditary Colon Cancer Syndromes." Seminars in Oncology 38, no. 4 (August 2011): 490–99. http://dx.doi.org/10.1053/j.seminoncol.2011.05.003.

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31

Narod, Steven A. "Hereditary breast carcinoma syndromes." Cancer 80, S3 (August 1, 1997): 537–42. http://dx.doi.org/10.1002/(sici)1097-0142(19970801)80:3+<537::aid-cncr3>3.0.co;2-6.

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32

Schmaier, Alvin H. "The hereditary angioedema syndromes." Journal of Clinical Investigation 129, no. 1 (December 10, 2018): 66–68. http://dx.doi.org/10.1172/jci125378.

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33

Jefferson, Kieran P., and David A. Gillatt. "Hereditary urological cancer syndromes." Nature Clinical Practice Urology 4, no. 4 (April 2007): 218–26. http://dx.doi.org/10.1038/ncpuro0761.

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34

Shawky, Rabah M., and Nagwa E. A. Gaboon. "Hereditary periodic fever syndromes." Egyptian Journal of Medical Human Genetics 12, no. 2 (November 2011): 117–25. http://dx.doi.org/10.1016/j.ejmhg.2011.07.005.

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35

Strate, Lisa L., and Sapna Syngal. "Hereditary colorectal cancer syndromes." Cancer Causes & Control 16, no. 3 (April 2005): 201–13. http://dx.doi.org/10.1007/s10552-004-3488-4.

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36

Igaz, Péter. "Genetics of neuroendocrine tumours, hereditary tumour syndromes." Orvosi Hetilap 154, no. 39 (September 2013): 1541–48. http://dx.doi.org/10.1556/oh.2013.29706.

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Neuroendocrine tumours occur in some hereditary tumour syndromes, and the molecular pathophysiological mechanisms involved in these are also important in their sporadic counterparts which representing the majority of neuroendocrine tumours. These syndromes include multiple endocrine neoplasia type 1, von Hippel–Lindau syndrome, neurofibromatosis type 1 and tuberous sclerosis. All these follow an autosomal dominant inheritance. The primarily affected molecular pathways are Ras-MAPK signalling, hypoxia induced factor 1α, and mTOR signalling that are also involved in sporadic tumours and may even represent potential molecular targets of therapy. In this review, the major characteristics of hereditary tumour syndromes, their molecular genetics and the pathophysiological mechanisms involved in sporadic tumours are discussed. Orv. Hetil., 2013, 154, 1541–1548.

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37

Lilley, Margaret, and Dawna Gilchrist. "The Hereditary Spectrum of Pancreatic Cancer: The Edmonton Experience." Canadian Journal of Gastroenterology 18, no. 1 (2004): 17–21. http://dx.doi.org/10.1155/2004/631909.

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OBJECTIVE:Pancreatic cancer is known to aggregate in some families and has been associated with a wide variety of cancer syndromes. The authors describe their experience with pancreatic cancer and the range of associated cancer syndromes.METHODS:The charts of all patients seen for concern of a hereditary cancer syndrome in the Cancer Genetics Clinic at the University of Alberta between 1995 and 2002 were reviewed.RESULTS:Forty families reported a personal or family history of pancreatic cancer in the context of a possible hereditary cancer syndrome. Three additional families reported a history of pancreatitis. Twenty-four (56%) of those families were suspected of having a hereditary breast and ovarian cancer syndrome. A further seven (16%) were suspected of having hereditary nonpolyposis colon cancer. Only three (7%) were believed to be at risk for a site-specific pancreatic cancer syndrome. Another three (7%) were suspicious for hereditary pancreatitis. The remaining family histories were suggestive of Li-Fraumeni syndrome, von Hippel-Lindau syndrome or a nonspecific cancer predisposition.CONCLUSIONS:With such a wide variety of hereditary cancer syndromes associated with pancreatic cancer, an accurate assessment of the family history is essential to determine the most appropriate cancer screening for at-risk family members and to guide any molecular testing that may be offered.

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38

Gupta, Samir, Dawn Provenzale, Xavier Llor, Amy L. Halverson, William Grady, Daniel C. Chung, Sigurdis Haraldsdottir, et al. "NCCN Guidelines Insights: Genetic/Familial High-Risk Assessment: Colorectal, Version 2.2019." Journal of the National Comprehensive Cancer Network 17, no. 9 (September 2019): 1032–41. http://dx.doi.org/10.6004/jnccn.2019.0044.

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Identifying individuals with hereditary syndromes allows for improved cancer surveillance, risk reduction, and optimized management. Establishing criteria for assessment allows for the identification of individuals who are carriers of pathogenic genetic variants. The NCCN Guidelines for Genetic/Familial High-Risk Assessment: Colorectal provide recommendations for the assessment and management of patients with high-risk colorectal cancer syndromes. These NCCN Guidelines Insights focus on criteria for the evaluation of Lynch syndrome and considerations for use of multigene testing in the assessment of hereditary colorectal cancer syndromes.

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Testa, Joseph R., David Malkin, and Joshua D. Schiffman. "Connecting Molecular Pathways to Hereditary Cancer Risk Syndromes." American Society of Clinical Oncology Educational Book, no. 33 (May 2013): 81–90. http://dx.doi.org/10.14694/edbook_am.2013.33.81.

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An understanding of the genetic causes and molecular pathways of hereditary cancer syndromes has historically informed our knowledge and treatment of all types of cancers. For this review, we focus on three rare syndromes and their associated genetic mutations including BAP1, TP53, and SDHx (SDHA, SDHB, SDHC, SDHD, SDHAF2). BAP1 encodes an enzyme that catalyzes the removal of ubiquitin from protein substrates, and germline mutations of BAP1 cause a novel cancer syndrome characterized by high incidence of benign atypical melanocytic tumors, uveal melanomas, cutaneous melanomas, malignant mesotheliomas, and potentially other cancers. TP53 mutations cause Li-Fraumeni syndrome (LFS), a highly penetrant cancer syndrome associated with multiple tumors including but not limited to sarcomas, breast cancers, brain tumors, and adrenocortical carcinomas. Genomic modifiers for tumor risk and genotype-phenotype correlations in LFS are beginning to be identified. SDH is a mitochondrial enzyme complex involved in the tricarboxylic acid (TCA) cycle, and germline SDHx mutations lead to increased succinate with subsequent paragangliomas, pheochromocytomas, renal cell carcinomas (RCCs), gastrointestinal stromal tumors (GISTs), and other rarer cancers. In all of these syndromes, the molecular pathways have informed our understanding of tumor risk and successful early tumor surveillance and screening programs.

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Marx, Stephen J., and William F. Simonds. "Hereditary Hormone Excess: Genes, Molecular Pathways, and Syndromes." Endocrine Reviews 26, no. 5 (January 4, 2005): 615–61. http://dx.doi.org/10.1210/er.2003-0037.

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Hereditary origin of a tumor helps toward early discovery of its mutated gene; for example, it supports the compilation of a DNA panel from index cases to identify that gene by finding mutations in it. The gene for a hereditary tumor may contribute also to common tumors. For some syndromes, such as hereditary paraganglioma, several genes can cause a similar syndrome. For other syndromes, such as multiple endocrine neoplasia 2, one gene supports variants of a syndrome. Onset usually begins earlier and in more locations with hereditary than sporadic tumors. Mono- or oligoclonal (“clonal”) tumor usually implies a postnatal delay, albeit less delay than for sporadic tumor, to onset and potential for cancer. Hormone excess from a polyclonal tissue shows onset at birth and no benefit from subtotal ablation of the secreting organ. Genes can cause neoplasms through stepwise loss of function, gain of function, or combinations of these. Polyclonal hormonal excess reflects abnormal gene dosage or effect, such as activation or haploinsufficiency. Polyclonal hyperplasia can cause the main endpoint of clinical expression in some syndromes or can be a precursor to clonal progression in others. Gene discovery is usually the first step toward clarifying the molecule and pathway mutated in a syndrome. Most mutated pathways in hormone excess states are only partly understood. The bases for tissue specificity of hormone excess syndromes are usually uncertain. In a few syndromes, tissue selectivity arises from mutation in the open reading frame of a regulatory gene (CASR, TSHR) with selective expression driven by its promoter. Polyclonal excess of a hormone is usually from a defect in the sensor system for an extracellular ligand (e.g., calcium, glucose, TSH). The final connections of any of these polyclonal or clonal pathways to hormone secretion have not been identified. In many cases, monoclonal proliferation causes hormone excess, probably as a secondary consequence of accumulation of cells with coincidental hormone-secretory ability.

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Lynch, Henry T., C. Richard Boland, Miguel A. Rodriguez-Bigas, Christopher Amos, Jane F. Lynch, and Patrick M. Lynch. "Who Should Be Sent for Genetic Testing in Hereditary Colorectal Cancer Syndromes?" Journal of Clinical Oncology 25, no. 23 (August 10, 2007): 3534–42. http://dx.doi.org/10.1200/jco.2006.10.3119.

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Genetic testing is being adopted increasingly to identify individuals with germline mutations that predispose to hereditary colorectal cancer syndromes. Deciding who to test and for which syndrome is of concern to members of the GI oncology community, molecular geneticists, and genetic counselors. The purpose of this review is to help provide guidelines for testing, given that the results influence syndrome diagnosis and clinical management. Although family history may determine whether testing is appropriate and may direct testing to the most informative family member, evolving clinicopathologic features can identify individual patients who warrant testing. Thus, although the usual absence of clinical premonitory signs in hereditary nonpolyposis colorectal cancer (or Lynch syndrome) adds difficulty to its diagnosis, use of the Amsterdam Criteria and Bethesda Guidelines can prove helpful. In contrast, premonitory stigmata such as pigmentations in Peutz-Jeghers syndrome and the phenotypic features of familial adenomatous polyposis aid significantly in syndrome diagnosis. We conclude that the physician's role in advising DNA testing is no small matter, given that a hereditary cancer syndrome's sequelae may be far reaching. Genetic counselors may be extremely helpful to the practicing gastroenterologist, oncologist, or surgeon; when more specialized knowledge is called for, referral can be made to a medical geneticist and/or a medical genetics clinic.

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42

Belev, N. F., D. G. Brega, and G. V. Gorinchoi. "PROSTATE CANCER AND HEREDITARY SYNDROMES." Malignant tumours, no. 3 (May 21, 2015): 97. http://dx.doi.org/10.18027/2224-5057-2014-3-97-102.

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43

Adeniran, Adebowale J., Brian Shuch, and Peter A. Humphrey. "Hereditary Renal Cell Carcinoma Syndromes." American Journal of Surgical Pathology 39, no. 12 (December 2015): e1-e18. http://dx.doi.org/10.1097/pas.0000000000000562.

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44

Gonzalez, Raul, and Nicole Riddle. "Hereditary Cancer Syndromes in Children." Journal of Pediatric Genetics 05, no. 02 (March 9, 2016): 077. http://dx.doi.org/10.1055/s-0036-1579761.

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Iafrate, M., E. Bratti, T. Prayer, A. Cisternino, I. M. Tavolini, and P. F. Bassi. "The Hereditary Renal Cancer Syndromes." Urologia Journal 71, no. 1 (January 2004): 15–20. http://dx.doi.org/10.1177/039156030407100103.

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Hawkins, Alexander T., and Paul E. Wise. "Colon cancer in hereditary syndromes." Seminars in Colon and Rectal Surgery 27, no. 4 (December 2016): 219–26. http://dx.doi.org/10.1053/j.scrs.2016.04.021.

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Nagy, Rebecca, Kevin Sweet, and Charis Eng. "Highly penetrant hereditary cancer syndromes." Oncogene 23, no. 38 (August 2004): 6445–70. http://dx.doi.org/10.1038/sj.onc.1207714.

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Adler, Arnon, and Sami Viskin. "Syncope in Hereditary Arrhythmogenic Syndromes." Cardiac Electrophysiology Clinics 5, no. 4 (December 2013): 479–86. http://dx.doi.org/10.1016/j.ccep.2013.08.005.

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Adler, Arnon, and Sami Viskin. "Syncope in Hereditary Arrhythmogenic Syndromes." Cardiology Clinics 33, no. 3 (August 2015): 433–40. http://dx.doi.org/10.1016/j.ccl.2015.04.011.

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Heymann, Warren R. "Cutaneous manifestations of hereditary syndromes." Journal of the American Academy of Dermatology 54, no. 3 (March 2006): 505–6. http://dx.doi.org/10.1016/j.jaad.2005.11.1045.

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