Artículos de revistas: "Familial cancer genetics"

1

Harnden, D. G. "Familial Cancer". Journal of Medical Genetics 24, n.º 3 (1 de marzo de 1987): 190. http://dx.doi.org/10.1136/jmg.24.3.190.

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Hemminki, K. "622 Genetics of familial cancer". European Journal of Cancer Supplements 8, n.º 5 (junio de 2010): 158–59. http://dx.doi.org/10.1016/s1359-6349(10)71423-3.

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Yu, Hongyao y Kari Hemminki. "Genetic epidemiology of colorectal cancer and associated cancers". Mutagenesis 35, n.º 3 (19 de agosto de 2019): 207–19. http://dx.doi.org/10.1093/mutage/gez022.

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Abstract We review here data on familial risk in colorectal cancer (CRC) generated from the Swedish Family-Cancer Database, the largest resource of its kind in the world. Although the concordant familial risk for CRC (i.e. CRC risk in families of CRC patients) has been reasonably well established, the studies on discordant familial risks (i.e. CRC risk in families with any other cancers) are rare. Because different cancers could be caused by shared genetic susceptibility or shared environment, data of associations of discordant cancers may provide useful information for identifying common risk factors. In analyses between any of 33 discordant cancers relative risks (RRs) for discordant cancers were estimated in families with increasing numbers of probands with CRC; in the reverse analyses, RRs for CRC were estimated in families with increasing numbers of probands with discordant cancers. In separate analyses, hereditary non-polyposis colorectal cancer (HNPCC) families were excluded from the study, based on HNPCC related double primary cancers, to assess the residual familial RRs. We further reviewed familial risks of colon and rectal cancers separately in search for distinct discordant associations. The reviewed data suggested that colon cancer was associated with a higher familial risk for CRC compared to rectal cancer. The previous data had reported associations of CRC with melanoma, thyroid and eye cancers. Nervous system cancer was only associated with colon cancer, and lung cancer only associated with rectal cancer. The reviewed data on discordant association may provide guidance to gene identification and may help genetic counseling.

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4

Eccles, D. M. "Familial Cancer Management". Journal of Medical Genetics 34, n.º 4 (1 de abril de 1997): 351. http://dx.doi.org/10.1136/jmg.34.4.351.

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5

Peters, Niamh, Sinead King, Emily O'Donovan, David James Gallagher y John V. Reynolds. "Oesophageal cancer: Commonly familial, possibly heritable." Journal of Clinical Oncology 35, n.º 4_suppl (1 de febrero de 2017): 23. http://dx.doi.org/10.1200/jco.2017.35.4_suppl.23.

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23 Background: Oesophageal cancer (OC) accounts for 400 deaths in Ireland per year. Prognosis remains poor, and improved prevention is needed. Familial clustering has been described however, The Nordic Twin Study of Cancer does not support a strong hereditability. We investigated familial OC over a decade in Ireland. Methods: The independent records of two national referral services were reviewed: an oesophageal surgery database and a hereditary cancer genetics database. Demographic Factors including family history of OC were recorded from the surgical database. Families containing a single OC diagnosis were identified in the genetics database. Age at diagnosis and additional cancer diagnoses in the family were recorded. Results: 1238 patients with OC were seen at St. James’s Hospital from 2005 to 2015. Demographic characteristics are shown in Table. 641 patients (51%) had a family history of malignancy. Seventy eight (6.3%) reported a family history of OC, 6 (7.6%) of whom had two or more first degree relatives with OC and 10 (13%) had both a first degree and second degree relative with OC. More male relatives were diagnosed with OC than female (59% vs 41%).The majority (24%) with a family history were diagnosed at Stage III, the majority (29%) without a family history were diagnosed at Stage II. 1840 pedigrees from the genetic database were reviewed. No pedigree contained a Proband with OC.4.5%(n = 84) included at least one family member with OC. The median age at diagnosis was 64. Breast, colorectal and gastric were the most commonly associated cancers with median ages of 50,59 and 64 respectively. Conclusions: More than half of patients presenting with OC report a family history of cancer, with likely hereditary and environmental components. OC patients are rarely referred for genetic assessment, possibly due to treatment related morbidity and poor clinical outcome. [Table: see text]

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Rogers, Carmelle D., Michiel S. van der Heijden, Kieran Brune, Charles J. Yeo, Ralph H. Hruban, Scott E. Kern y Michael Goggins. "The Genetics ofFANCCandFANCGin Familial Pancreatic Cancer". Cancer Biology & Therapy 3, n.º 2 (2 de febrero de 2004): 167–69. http://dx.doi.org/10.4161/cbt.3.2.609.

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7

Cavenee, W. K. y M. F. Hansen. "Molecular Genetics of Human Familial Cancer". Cold Spring Harbor Symposia on Quantitative Biology 51 (1 de enero de 1986): 829–35. http://dx.doi.org/10.1101/sqb.1986.051.01.096.

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8

Rieder, Harald y Detlef K. Bartsch. "Familial Pancreatic Cancer". Familial Cancer 3, n.º 1 (2002): 69–74. http://dx.doi.org/10.1023/b:fame.0000026822.67291.a1.

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9

Barrisford, Glen W., Eric A. Singer, Inger L. Rosner, W. Marston Linehan y Gennady Bratslavsky. "Familial Renal Cancer: Molecular Genetics and Surgical Management". International Journal of Surgical Oncology 2011 (2011): 1–11. http://dx.doi.org/10.1155/2011/658767.

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Familial renal cancer (FRC) is a heterogeneous disorder comprised of a variety of subtypes. Each subtype is known to have unique histologic features, genetic alterations, and response to therapy. Through the study of families affected by hereditary forms of kidney cancer, insights into the genetic basis of this disease have been identified. This has resulted in the elucidation of a number of kidney cancer gene pathways. Study of these pathways has led to the development of novel targeted molecular treatments for patients affected by systemic disease. As a result, the treatments for families affected by von Hippel-Lindau (VHL), hereditary papillary renal carcinoma (HPRC), hereditary leiomyomatosis renal cell carcinoma (HLRCC), and Birt-Hogg-Dubé (BHD) are rapidly changing. We review the genetics and contemporary surgical management of familial forms of kidney cancer.

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10

Sukumaran, Shobini y Kunal Chawathey. "Familial breast cancer". InnovAiT: Education and inspiration for general practice 10, n.º 2 (27 de diciembre de 2016): 82–88. http://dx.doi.org/10.1177/1755738016685893.

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Breast cancer is the most common malignancy in women; it affects about one in eight women. Familial breast cancer typically presents earlier than sporadic breast cancer, and is more often bilateral than in sporadic cases. Ovarian cancer is more common in familial breast cancer. A large number of studies have confirmed an increased breast cancer risk in patients with a significant family history of breast cancer. The breast cancer genotype has an autosomal dominant pattern of transmission. This article considers familial breast cancer and various aspects of breast cancer management in primary care, including the genetics of familial breast cancer, and guidelines on referral to secondary care.

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11

Rustgi, A. K. "Familial pancreatic cancer: genetic advances". Genes & Development 28, n.º 1 (1 de enero de 2014): 1–7. http://dx.doi.org/10.1101/gad.228452.113.

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12

Lynch, Patrick M. "Current Approaches in Familial Colorectal Cancer: A Clinical Perspective". Journal of the National Comprehensive Cancer Network 4, n.º 4 (abril de 2006): 421–30. http://dx.doi.org/10.6004/jnccn.2006.0034.

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Individuals with a family history of colorectal cancer or colorectal adenomas have an increased risk for colorectal cancer. When no hereditary syndrome is evident, screening is based on empiric risk estimates. The risk is greatest for individuals with specific inherited cancer-predisposing disorders. When conditions such as familial adenomatous polyposis or hereditary nonpolyposis colorectal cancer are diagnosed, specific neoplasm risk estimates can usually be performed based on advances in molecular genetics. These estimates lead to more straightforward and cost-effective approaches to surveillance and management. The National Comprehensive Cancer Center Network (NCCN) and other groups have provided detailed guidelines for evaluating patients based on recognition of clinical syndrome characteristics, followed by appropriate genetic counseling, genetic testing, and optimal surveillance. The NCCN guidelines are used as a frame of reference for this discussion of selected recent advances in human cancer genetics as they apply to clinical practice.

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13

Lumadue, Jeanne A., Constance A. Griffin, Ralph H. Hruban y Medhat Osman. "Familial Pancreatic Cancer and the Genetics of Pancreatic Cancer". Surgical Clinics of North America 75, n.º 5 (octubre de 1995): 845–55. http://dx.doi.org/10.1016/s0039-6109(16)46731-9.

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14

Eccles, Diana M. "Familial Cancer (special issue) Breast Cancer Treatment and Genetics". Familial Cancer 5, n.º 2 (junio de 2006): 127–28. http://dx.doi.org/10.1007/s10689-006-7904-7.

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15

van Rensburg, E. J. y B. A. Ponder. "Molecular genetics of familial breast-ovarian cancer." Journal of Clinical Pathology 48, n.º 9 (1 de septiembre de 1995): 789–95. http://dx.doi.org/10.1136/jcp.48.9.789.

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16

Carneiro, Fátima, Carla Oliveira y Raquel Seruca. "Pathology and Genetics of Familial Gastric Cancer". International Journal of Surgical Pathology 18, n.º 3_suppl (19 de mayo de 2010): 33–36. http://dx.doi.org/10.1177/1066896910366463.

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17

Wood, Laura D., Matthew B. Yurgelun y Michael G. Goggins. "Genetics of Familial and Sporadic Pancreatic Cancer". Gastroenterology 156, n.º 7 (mayo de 2019): 2041–55. http://dx.doi.org/10.1053/j.gastro.2018.12.039.

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18

Blair, Vanessa R. "Familial Gastric Cancer: Genetics, Diagnosis, and Management". Surgical Oncology Clinics of North America 21, n.º 1 (enero de 2012): 35–56. http://dx.doi.org/10.1016/j.soc.2011.09.003.

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19

Hauser, Alan R., Irving J. Lerner y Richard A. King. "Familial male breast cancer". American Journal of Medical Genetics 44, n.º 6 (1 de diciembre de 1992): 839–40. http://dx.doi.org/10.1002/ajmg.1320440626.

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20

Eisinger, François. "Genetic Testing for Familial Cancer". Public Health Genomics 11, n.º 1 (2008): 63–67. http://dx.doi.org/10.1159/000111640.

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21

Epplein, Meira, Ksenia P. Koon, Scott D. Ramsey y John D. Potter. "Genetic Services for Familial Cancer Patients: A Follow-Up Survey of National Cancer Institute Cancer Centers". Journal of Clinical Oncology 23, n.º 21 (20 de julio de 2005): 4713–18. http://dx.doi.org/10.1200/jco.2005.00.133.

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Purpose Anecdotal reports suggest that the volume of services offered to individuals concerned with hereditary cancer risk has increased substantially in recent years. As a follow-up to our 1993 survey, we sought to determine how the scope and volume of genetic services has changed between 1993 and 2002. Methods We surveyed the 61 National Cancer Institute–designated cancer centers in operation in 2002 using an updated version of the questionnaire from 1993. Analysis included frequencies and summary statistics. Results The majority of cancer centers responding (46 of 56 centers; 82.1%) provided some genetic services for evaluation of familial cancer, which is a higher proportion than in 1993 (50%; P < .01). Almost all centers (42 of 46 centers; 91.3%) provided services not only to cancer patients and their families, but also to individuals concerned with risk, which is a change (P = .01) from 1993, when 64.7% of centers offered such services. In addition, increases have been found for most other measures of services rendered for familial genetic services. Conclusion As public awareness of cancer susceptibility genes has grown markedly in recent years, the demand has also grown for genetic services to assess familial cancer risk. Major deleterious genetic mutations are rare, and much of the current research in genetic variation focuses on higher prevalence variants that carry lower risks. This may suggest that testing for mutations will move from genetics clinics to primary care and specialty practices. Thus, it is unclear whether the scope and volume of cancer center genetics services will continue to grow as rapidly as they have over the last decade.

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22

Haluska, F. G. y F. S. Hodi. "Molecular genetics of familial cutaneous melanoma." Journal of Clinical Oncology 16, n.º 2 (febrero de 1998): 670–82. http://dx.doi.org/10.1200/jco.1998.16.2.670.

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PURPOSE A family history of melanoma is a significant risk factor for the disease, and recently several loci that determine susceptibility to the development of melanoma have been identified. The most important of these is p16/CDKN2A. We attempted to determine the degree to which the p16/CDKN2A gene has been implicated in the development of melanoma, and to identify other genetic factors that play a role as well. METHODS We reviewed the literature published since the isolation of p16/CDKN2A and identified 13 studies that report the status of the gene in melanoma samples and 12 reports that examine p16/CDKN2A in melanoma kindreds. We also reviewed associated studies on CDK4 and RB1 involvement in melanoma, and examined the role of p16/CDKN2A in other inherited cancers. RESULTS The evidence strongly implicates p16/CDKN2A in determining predisposition to malignant melanoma. Overall, approximately 20% of families that have been studied show mutations in the gene. However, because of clustering of sporadic cases in families, and potentially because of technical factors, this is likely an underestimate of the proportion of the genetic predisposition for melanoma that is due to p16/CDKN2A mutation. Rare families carry a mutated CDK4 gene that is also responsible for inherited melanoma. CONCLUSION The gene p16/CDKN2A is an important determinant of melanoma risk. A commercial test is presently available to assess the status of this locus. However, because of uncertainties regarding the interpretation of the results of p16/CDKN2A genetic testing, we do not recommend routine clinical use of this test at this time.

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23

Carvalho, Joana, Patricia Oliveira, Janine Senz, Celina São José, Samantha Hansford, Sara Pinto Teles, Marta Ferreira et al. "Redefinition of familial intestinal gastric cancer: clinical and genetic perspectives". Journal of Medical Genetics 58, n.º 1 (17 de febrero de 2020): 1–11. http://dx.doi.org/10.1136/jmedgenet-2019-106346.

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BackgroundFamilial intestinal gastric cancer (FIGC) remains genetically unexplained and without testing/clinical criteria. Herein, we characterised the age of onset and disease spectrum of 50 FIGC families and searched for genetic causes potentially underlying a monogenic or an oligogenic/polygenic inheritance pattern.MethodsNormal and tumour DNA from 50 FIGC probands were sequenced using Illumina custom panels on MiSeq, and their respective germline and somatic landscapes were compared with corresponding landscapes from sporadic intestinal gastric cancer (SIGC) and hereditary diffuse gastric cancer cohorts.ResultsThe most prevalent phenotype in FIGC families was gastric cancer, detected in 138 of 208 patients (50 intestinal gastric cancer probands and 88 unknown gastric cancer histology relatives), followed by colorectal and breast cancers. After excluding benign and intronic variants lacking impact in splicing, 12 rare high-quality variants were found exclusively in 11 FIGC probands. Only two probands carried potentially deleterious variants, but lacked somatic second-hits, weakly supporting the monogenic hypothesis for FIGC. However, FIGC probands developed gastric cancer at least 10 years earlier and carried more TP53 germline common variants than SIGC (p=4.5E-03); FIGC and SIGC could be distinguished by specific germline and somatic variant profiles; there was an excess of FIGC tumours presenting microsatellite instability (38%); and FIGC tumours displayed significantly more somatic common variants than SIGC tumours (p=4.2E-06).ConclusionThis study proposed the first data-driven testing criteria for FIGC families, and supported FIGC as a genetically determined, likely polygenic, gastric cancer-predisposing disease, with earlier onset and distinct from patients with SIGC at the germline and somatic levels.

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24

Skolnick, M., L. Cannon-Albright, L. Meyer, D. Goldgar, C. Lewis y J. Zone. "Genetics of 9p21-linked familial melanoma". Melanoma Research 3, n.º 1 (marzo de 1993): 14. http://dx.doi.org/10.1097/00008390-199303000-00042.

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25

Mintziras, Ioannis y Detlef K. Bartsch. "Progress report: familial pancreatic cancer". Familial Cancer 18, n.º 3 (22 de febrero de 2019): 359–62. http://dx.doi.org/10.1007/s10689-019-00125-9.

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26

Morrison, Patrick J., Deirdre E. Donnelly, A. Brew Atkinson y Alexander P. Maxwell. "Advances in the Genetics of Familial Renal Cancer". Oncologist 15, n.º 6 (19 de mayo de 2010): 532–38. http://dx.doi.org/10.1634/theoncologist.2010-0023.

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27

Lerch, M. M. "Anticipating disaster: the genetics of familial pancreatic cancer". Gut 55, n.º 2 (1 de febrero de 2006): 150–51. http://dx.doi.org/10.1136/gut.2005.075101.

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28

Oliveira, Carla, Raquel Seruca y Faitima Carneiro. "Genetics, Pathology, and Clinics of Familial Gastric Cancer". International Journal of Surgical Pathology 14, n.º 1 (enero de 2006): 21–33. http://dx.doi.org/10.1177/106689690601400105.

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29

Peters, June. "Familial and Ovarian Cancer: Genetics, Screening and Management". American Journal of Human Genetics 72, n.º 6 (junio de 2003): 1596–97. http://dx.doi.org/10.1086/375405.

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30

Chen, J. D. "MET mutation and familial gastric cancer". Journal of Medical Genetics 38, n.º 8 (1 de agosto de 2001): 26e—26. http://dx.doi.org/10.1136/jmg.38.8.e26.

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31

Tomoshige, Koichi, Keitaro Matsumoto, Tomoshi Tsuchiya, Masahiro Oikawa, Takuro Miyazaki, Naoya Yamasaki, Hiroyuki Mishima et al. "Germline mutations causing familial lung cancer". Journal of Human Genetics 60, n.º 10 (16 de julio de 2015): 597–603. http://dx.doi.org/10.1038/jhg.2015.75.

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32

Yu, Hongyao, Christoph Frank, Jan Sundquist, Akseli Hemminki y Kari Hemminki. "Common cancers share familial susceptibility: implications for cancer genetics and counselling". Journal of Medical Genetics 54, n.º 4 (20 de septiembre de 2016): 248–53. http://dx.doi.org/10.1136/jmedgenet-2016-103932.

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33

Peters, June A., Ellen B. Beckjord, Deliya R. Banda Ryan, Ann G. Carr, Susan T. Vadaparampil, Jennifer T. Loud, Larissa Korde y Mark H. Greene. "Testicular Cancer and Genetics Knowledge Among Familial Testicular Cancer Family Members". Journal of Genetic Counseling 17, n.º 4 (15 de mayo de 2008): 351–64. http://dx.doi.org/10.1007/s10897-008-9153-4.

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34

Hemminki, Kari, Xinjun Li y Kamila Czene. "Familial risk of cancer: Data for clinical counseling and cancer genetics". International Journal of Cancer 108, n.º 1 (2003): 109–14. http://dx.doi.org/10.1002/ijc.11478.

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35

Hecht, F. "Familial cancer syndromes: catalog with comments". Cytogenetic and Genome Research 118, n.º 2-4 (2007): 222–28. http://dx.doi.org/10.1159/000108304.

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36

Hemminki, K. "Clinical genetic counselling for familial cancers requires reliable data on familial cancer risks and general action plans". Journal of Medical Genetics 41, n.º 11 (1 de noviembre de 2004): 801–7. http://dx.doi.org/10.1136/jmg.2004.022731.

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37

Hińcza, Kinga, Artur Kowalik y Aldona Kowalska. "Current Knowledge of Germline Genetic Risk Factors for the Development of Non-Medullary Thyroid Cancer". Genes 10, n.º 7 (26 de junio de 2019): 482. http://dx.doi.org/10.3390/genes10070482.

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The thyroid is the most common site of endocrine cancer. One type of thyroid cancer, non-medullary thyroid cancer (NMTC), develops from follicular cells and represents approximately 90% of all thyroid cancers. Approximately 5%–15% of NMTC cases are thought to be of familial origin (FNMTC), which is defined as the occurrence of the disease in three or more first-degree relatives of the patient. It is often divided into two groups: Syndrome-associated and non-syndromic. The associated syndromes include Cowden syndrome, familial adenomatous polyposis, Gardner syndrome, Carney complex and Werner syndrome. The hereditary factors contributing to the unfavorable course of FNMTC remain poorly understood; therefore, considerable effort is being expended to identify contributing loci. Research carried out to date identifies fourteen genes (DICER1, FOXE1, PTCSC2, MYH9, SRGAP1, HABP2, BRCA1, CHEK2, ATM, RASAL1, SRRM2, XRCC1, TITF-1/NKX2.1, PTCSC3) associated with vulnerability to FNMTC that are not related to hereditary syndromes. In this review, we summarize FNMTC studies to date, and provide information on genes involved in the development of non-syndromic familial non-medullary thyroid cancers, and the significance of mutations in these genes as risk factors. Moreover, we discuss whether the genetic polymorphism rs966423 in DIRC3 has any potential as a prognostic factor of papillary thyroid cancer.

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Melchor, Lorenzo y Javier Benítez. "The complex genetic landscape of familial breast cancer". Human Genetics 132, n.º 8 (5 de abril de 2013): 845–63. http://dx.doi.org/10.1007/s00439-013-1299-y.

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39

Lakhani, Sunil R., Michael J. O'Hare y Alan Ashworth. "Profiling familial breast cancer". Nature Medicine 7, n.º 4 (abril de 2001): 408–10. http://dx.doi.org/10.1038/86464.

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Schubert, Stephanie A., Hans Morreau, Noel F. C. C. de Miranda y Tom van Wezel. "The missing heritability of familial colorectal cancer". Mutagenesis 35, n.º 3 (12 de octubre de 2019): 221–31. http://dx.doi.org/10.1093/mutage/gez027.

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Abstract Pinpointing heritability factors is fundamental for the prevention and early detection of cancer. Up to one-quarter of colorectal cancers (CRCs) occur in the context of familial aggregation of this disease, suggesting a strong genetic component. Currently, only less than half of the heritability of CRC can be attributed to hereditary syndromes or common risk loci. Part of the missing heritability of this disease may be explained by the inheritance of elusive high-risk variants, polygenic inheritance, somatic mosaicism, as well as shared environmental factors, among others. A great deal of the missing heritability in CRC is expected to be addressed in the coming years with the increased application of cutting-edge next-generation sequencing technologies, routine multigene panel testing and tumour-focussed germline predisposition screening approaches. On the other hand, it will be important to define the contribution of environmental factors to familial aggregation of CRC incidence. This review provides an overview of the known genetic causes of familial CRC and aims at providing clues that explain the missing heritability of this disease.

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Lukeis, R., M. Garson, F. Macrae, J. St. John y R. Whitehead. "Cytogenetic studies in familial colon cancer". Mutation Research/Environmental Mutagenesis and Related Subjects 164, n.º 3 (junio de 1986): 195. http://dx.doi.org/10.1016/0165-1161(86)90020-8.

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Bergqvist, J., A. Latif, S. A. Roberts, K. D. Hadfield, F. Lalloo, A. Howell, D. G. Evans y W. G. Newman. "RASSF1A polymorphism in familial breast cancer". Familial Cancer 9, n.º 3 (2 de abril de 2010): 263–65. http://dx.doi.org/10.1007/s10689-010-9335-8.

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Güth, Uwe, Dieter Müller, Dorothy Jane Huang, Ellen Obermann y Hansjakob Müller. "Strictly defined familial male breast cancer". Familial Cancer 10, n.º 1 (9 de noviembre de 2010): 73–77. http://dx.doi.org/10.1007/s10689-010-9400-3.

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Weigl, Stefania, Angelo Paradiso y Stefania Tommasi. "Mitochondria and Familial Predisposition to Breast Cancer". Current Genomics 14, n.º 3 (1 de abril de 2013): 195–203. http://dx.doi.org/10.2174/1389202911314030005.

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HRAFNKELSSON, J. "Familial non-medullary thyroid cancer in Iceland". Journal of Medical Genetics 38, n.º 3 (1 de marzo de 2001): 189–91. http://dx.doi.org/10.1136/jmg.38.3.189.

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46

Heimdal, Ketil, Lovise Mæhle y Pål Møller. "Costs and Benefits of Diagnosing Familial Breast Cancer". Disease Markers 15, n.º 1-3 (1999): 167–73. http://dx.doi.org/10.1155/1999/751892.

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Based on results from our surveillance program for women at risk for inherited breast cancer, we have calculated cost per year earned. Norwegian National Insurance Service reimbursement fees were used in the calculations. The calculated costs are based on empirical figures for expanding already established medical genetic departments and diagnostic outpatient clinics to undertake the work described. Cost per year earned was estimated at Euro 753 using our current practice of identifying the high-risk women through a traditional cancer family clinic.A strategy of identifying the high-risk families through genetic testing of all incident breast and ovarian cancers for founder mutations in BRCA1, will increase the cost to Euro 832. Costs related more to genetic counseling and clinical follow-up than to laboratory procedures. This potential economic limiting factor coincides with a shortage of personnel trained in genetic counseling. The number of relatives counseled to identify one healthy female mutation carrier (i.e. the uptake of genetic testing) is more important to cost-effectiveness than family size. Costs will vary depending upon the penetrance of the mutations detected and the prevalence of founder mutations in the population examined. Prevalences of BRCA1 founder mutations in some high incidence areas of Norway may be sufficiently high to consider population screening. Unlike mutation screening of cancer genes, founder mutation analysis will not identify DNA variants of uncertain clinical significance. Identification of high-risk families through founder mutation analysis of BRCA1 ensures that families with maximum risks are given first access to the limited resources of the high-risk clinics. This may be the greatest contribution to increased cost effectiveness of such a strategy.The assumptions underlying the calculations are discussed. The conclusion is that inherited breast cancer may be managed effectively for the cost of Euro 750–1,600 per year earned.

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Brédart, Anne, Jean-Luc Kop, Julia Dick, Alejandra Cano, Antoine De Pauw, Amélie Anota, Joan Brunet et al. "Psychosocial problems in women attending French, German and Spanish genetics clinics before and after targeted or multigene testing results: an observational prospective study". BMJ Open 9, n.º 9 (septiembre de 2019): e029926. http://dx.doi.org/10.1136/bmjopen-2019-029926.

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Objectives and settingAdvances in multigene panel testing for cancer susceptibility has increased the complexity of counselling, requiring particular attention to counselees’ psychosocial needs. Changes in psychosocial problems before and after genetic testing were prospectively compared between genetic test results in women tested for breast or ovarian cancer genetic susceptibility in French, German and Spanish clinics.Participants and measuresAmong 752 counselees consecutively approached, 646 (86%) were assessed after the initial genetic consultation (T1), including 510 (68%) affected with breast cancer, of which 460 (61%) were assessed again after receiving the test result (T2), using questionnaires addressing genetic-specific psychosocial problems (Psychosocial Aspects of Hereditary Cancer (PAHC)-six scales). Sociodemographic and clinical data were also collected.ResultsSeventy-nine (17.2%), 19 (4.1%), 259 (56.3%), 44 (9.6%) and 59 (12.8%) women received aBRCA1/2, another high/moderate-risk pathogenic variant (PV), negative uninformative, true negative (TN) or variant of uncertain significance result (VUS), respectively. On multiple regression analyses, compared with women receiving another result, those with a VUS decreased more in psychosocial problems related to hereditary predisposition (eg,coping with the test result) (ß=−0.11, p<0.05) and familial/social issues (eg,risk communication) (ß=−0.13, p<0.05), almost independently from their problems before testing. Women with a PV presented no change in hereditary predisposition problems and, so as women with a TN result, a non-significant increase in familial/social issues. Other PAHC scales (ie, emotions, familial cancer, personal cancer and children-related issues) were not affected by genetic testing.ConclusionsIn women tested for breast or ovarian cancer genetic risk in European genetics clinics, psychosocial problems were mostly unaffected by genetic testing. Apart from women receiving a VUS result, those with another test result presented unchanged needs in counselling in particular about hereditary predisposition and familial/social issues.

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Rogers, C. D. "Genetics of the FANCA gene in familial pancreatic cancer". Journal of Medical Genetics 41, n.º 12 (1 de diciembre de 2004): e126-e126. http://dx.doi.org/10.1136/jmg.2004.024851.

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Khan, Ayesha, James Smellie, Chris Nutting, Kevin Harrington y Kate Newbold. "Familial Nonmedullary Thyroid Cancer: A Review of the Genetics". Thyroid 20, n.º 7 (julio de 2010): 795–801. http://dx.doi.org/10.1089/thy.2009.0216.

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Huson, S. M. "Familial Breast and Ovarian Cancer: Genetics, Screening and Management". JRSM 97, n.º 8 (30 de julio de 2004): 405. http://dx.doi.org/10.1258/jrsm.97.8.405.

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