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  • 1
    In: PLoS ONE, 2017, Vol.12(5)
    Description: Purpose The German Consortium for hereditary breast/ovarian cancer (GC-HBOC) aims for nationwide access to professional, individualized yet structured care for families at high risk. The identification of such families remains key for optimal care. Our study evaluates counselees’ characteristics, referral practices, expectations and motivations in respect to their first genetic consultation. The impact of the Angelina Jolie Effect (AJE) was prospectively assessed. Methods All counselees could participate through a questionnaire. Groups were built in respect to neoadjuvant chemotherapy (FT) and before/after AJE. Results The 917 (88.5%) counselees (FT: 8.2%) were on average female (97.3%), with a mean age of 44.6, had children (71.9%), higher education (88%), personal (46.4%) or at least one first-degree relative (74.6%) with BC/OC or known BRCA1 /2 mutation (11.8%), were in a relationship (76.1%), and living in a village (40.7%). The AJE is associated with significantly fewer cancelations (p = 0.005), more attendance among men (4.2% vs. 0.8%, p = 0.002), and people with familial BRCA1/2 (14.8% vs. 7.5%, p = 0.003). The majority seek information regarding their cancer risk (83%) or relatives’ risk (74.8%), HBOC (69.1%), and surveillance programs for themselves (66.6%) or relatives (60.6%). Conclusion Enhanced media awareness of genetic cancer motivates patients, including other patient groups. A higher number of participants, including more men, are attending GC due to the AJE. In terms of the rising complexity of genetic testing, the analysis of patients’ expectations and initiators for GC suggests that there is an urgent need to develop to participate motivation analysis. The factors revealed as impediments to accessing GC-HBOC guide recommendations to optimize access to genetic counseling. Medical educational programs for primary gynecologists and families at risk might be options to reach more participants.
    Keywords: Research Article ; Medicine And Health Sciences ; Biology And Life Sciences ; Biology And Life Sciences ; Social Sciences ; Medicine And Health Sciences ; Biology And Life Sciences ; People And Places ; People And Places ; Medicine And Health Sciences ; Biology And Life Sciences ; Biology And Life Sciences ; Research And Analysis Methods ; Social Sciences
    E-ISSN: 1932-6203
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  • 2
    In: American Journal of Medical Genetics Part A, September 2013, Vol.161(9), pp.2158-2166
    Description: Loss-of-function mutations of NSD1 and 5q35 microdeletions encompassing NSD1 are a major cause of Sotos syndrome (Sos), which is characterized by overgrowth, macrocephaly, characteristic facies, and variable intellectual disability (ID). Microduplications of 5q35.2-q35.3 including NSD1 have been reported in only five patients so far and described clinically as a reversed Sos resulting from a hypothetical gene dosage effect of NSD1. Here, we report on nine patients from five families with interstitial duplication 5q35 including NSD1 detected by molecular karyotyping. The clinical features of all 14 individuals are reviewed. Patients with microduplications including NSD1 appear to have a consistent phenotype consisting of short stature, microcephaly, learning disability or mild to moderate ID, and distinctive facial features comprising periorbital fullness, short palpebral fissures, a long nose with broad or long nasal tip, a smooth philtrum and a thin upper lip vermilion. Behavioral problems, ocular and minor hand anomalies may be associated. Based on our findings, we discuss the possible etiology and conclude that it is possible, but so far unproven, that a gene dosage effect of NSD1 may be the major cause. copyright 2013 Wiley Periodicals, Inc.
    Keywords: Microduplication 5q35 ; Nsd1 ; Partial Trisomy 5q ; Gene Dosage ; Sotos Syndrome
    ISSN: 1552-4825
    E-ISSN: 1552-4833
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  • 3
    In: American Journal of Medical Genetics Part A, December 2014, Vol.164(12), pp.3061-3068
    Description: To purchase or authenticate to the full-text of this article, please visit this link: http://onlinelibrary.wiley.com/doi/10.1002/ajmg.a.36761/abstract Byline: Nicola Dikow, Bianca Maas, Stephanie Karch, Martin Granzow, Johannes W.G. Janssen, Anna Jauch, Katrin Hinderhofer, Christian Sutter, Susanne Schubert-Bast, Britt Marie Anderlid, Bruno Dallapiccola, Nathalie Van der Aa, Ute Moog Small interstitial deletions affecting chromosome region 3p25.3 have been reported in only five patients so far, four of them with overlapping telomeric microdeletions 3p25.3 and variable features of 3p- syndrome, and one patient with a small proximal microdeletion and a distinct phenotype with intellectual disability (ID) and multiple congenital anomalies. Here we report on three novel patients with overlapping proximal microdeletions 3p25.3 of 1.1-1.5Mb in size showing a consistent non-3p- phenotype with ID, epilepsy/EEG abnormalities, poor speech, ataxia and stereotypic hand movements. The smallest region of overlap contains two genes encoding sodium- and chloride-dependent GABA transporters which have not been associated with this disease phenotype in humans so far. The protein function, the phenotype in transporter deficient animal models and the effects of specific pharmacological transporter inhibition in mice and humans provide evidence that these GABA transporters are plausible candidates for seizures/EEG abnormalities, ataxia and ID in this novel group of patients. A fourth novel patient deleted for a 3.16Mb region, both telomeric and centromeric to 3p25.3, confirms that the telomeric segment is critical for the 3p- syndrome phenotype. Finally, a region of 643kb is suggested to harbor one or more genes causative for polydactyly which is part of the 3p- syndrome. [c] 2014 Wiley Periodicals, Inc. Article Note: DECIPHER: Database of Chromosomal Imbalance and Phenotype in Humans using Ensembl Resources. Firth, H.V. et al. (2009). Am. J. Hum. Genet. 84, 524-533 (DOI: dx.doi.org/10/1016/j.ajhg.2009.03.010). This study makes use of data generated by the DECIPHER Consortium. A full list of centres which contributed to the generation of the data is available from http://decipher.sanger.ac.uk and via email from decipher@sanger.ac.uk. Conflict of interest: none.
    Keywords: Ataxia ; Epilepsy ; Gaba Transporter ; Microdeletion 3p25.3 ; Intellectual Disability
    ISSN: 1552-4825
    E-ISSN: 1552-4833
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  • 4
    In: American Journal of Medical Genetics Part A, May 2017, Vol.173(5), pp.1369-1373
    Description: Byline: Nicola Dikow, Martin Granzow, Luitgard M. Graul-Neumann, Stephanie Karch, Katrin Hinderhofer, Nagarajan Paramasivam, Laura-Jane Behl, Lilian Kaufmann, Christine Fischer,Christina Evers, Matthias Schlesner, Roland Eils, Guntram Borck, Christiane Zweier, Claus R. Bartram, John C. Carey, Ute Moog Recently, de novo heterozygous variants in DDX3X have been reported in about 1.5% of 2659 females with previously unexplained intellectual disability (ID). We report on the identification of DDX3X variants in two unrelated girls with clinical features of Toriello-Carey Syndrome (T-CS). In patient 1, the recurrent variant c.1703C〉T; p.(P568L) was identified when reconsidering X-linked de novo heterozygous variants in exome sequencing data. In patient 2, the DDX3X variant c.1600C〉G; p.(R534G) was also detected by exome sequencing. Based on these data, de novo heterozygous DDX3X variants should be considered not only in females with unexplained ID, but also in individuals with a clinical diagnosis of T-CS. Article Note: Web resources: Online Mendelian Inheritance in Man (OMIM), http://www.omim.org Supporting information: Additional Supporting Information may be found in the online version of this article Additional Supporting Information may be found online in the supporting information tab for this article. CAPTION(S): Supporting Table S1. Supporting Table S2.
    Keywords: Ddx3x ; Exome Sequencing ; Intellectual Disability ; Toriello–Carey Syndrome
    ISSN: 1552-4825
    E-ISSN: 1552-4833
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  • 5
    Language: English
    In: Breast Cancer Research and Treatment, 2012, Vol.134(3), pp.1229-1239
    Description: Double heterozygosity for disease-causing BRCA1 and BRCA2 mutations is a very rare condition in most populations. Here we describe genetic and clinical data of eight female double heterozygotes (DH) for BRCA1 and BRCA2 mutations found in a cohort of 8162 German breast/ovarian cancer families and compare it with the data of their single heterozygous relatives and of the index patients of the German Consortium for Hereditary Breast and Ovarian Cancer. Furthermore, we analyze the phenotypic features of these patients with respect to age at onset of first cancer, first breast/ovarian cancer and the number of disease manifestations and compare them to that of published Caucasian female DHs and their single heterozygous female relatives. German DHs were not significantly younger at diagnosis of first breast cancer than the single heterozygous index patients of the German Consortium. However, if the data of our study were pooled with that of the literature, DHs were substantially younger at onset of first cancer (mean age 40.4 years, 95 % CI = 36.6–44.1) than their single heterozygous female relatives (mean age 51.9 years, 95 % CI = 46.8–57.0). The two groups also differed concerning the onset of first breast cancer (mean age 40.6 years, 95 % CI = 36.6–44.5 vs. 52.6, 95 % CI = 47.5–57.6). In addition, DHs had a more severe disease than their female relatives carrying a single BRCA mutation (1.4 vs. 0.6 manifestations per person). In contrast to Ashkenazi Jewish females, Caucasian DH females might develop breast cancer at an earlier age and have a more severe disease than single heterozygous BRCA mutation carriers. Therefore, DHs may benefit from more intensive surveillance programs/follow-up care and prophylactic surgery.
    Keywords: BRCA1 ; BRCA2 ; Double heterozygosity ; Double heterozygotes ; Double mutation ; Genetic testing
    ISSN: 0167-6806
    E-ISSN: 1573-7217
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  • 6
    Language: English
    In: Journal of Medical Genetics, 6 June 2013, Vol.50(6), p.360
    Description: Risk prediction models are widely used in clinical genetic counselling. Despite their frequent use, the genetic risk models BOADICEA, BRCAPRO, IBIS and extended Claus model (eCLAUS), used to estimate mutation carrier probabilities, have never been comparatively evaluated in a large sample from central Europe. Additionally, a novel version of BOADICEA that incorporates tumour pathology information has not yet been validated.
    Keywords: Cancer: Breast ; Clinical Genetics ; Genetic Screening/Counselling ; Prevention ; Screening
    ISSN: 0022-2593
    ISSN: 00222593
    E-ISSN: 1468-6244
    E-ISSN: 14686244
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  • 7
    Language: English
    In: Breast Cancer Research and Treatment, 2016, Vol.156(2), pp.289-299
    Description: Breast cancer (BC) is the leading cancer among women worldwide and in 5–10 % of cases is of hereditary origin, mainly due to BRCA1/2 mutations. Therefore, the German Consortium for Familial Breast and Ovarian Cancer (HBOC) with its 15 specialized academic centers offers families at high risk for familial/hereditary cancer a multimodal breast cancer surveillance program (MBCS) with regular breast MRI, mammography, ultrasound, and palpation. So far, we know a lot about the psychological effects of genetic testing, but we know little about risk-correlated adherence to MBCS or prophylactic surgery over time. The aim of this study was to investigate counselees’ adherence to recommendations for MBCS in order to adjust the care supply and define predictors for incompliance. All counselees, who attended HBOC consultation at the University Hospital Heidelberg between July 01, 2009 and July 01, 2011 were eligible to participate. A tripartite questionnaire containing sociodemographic information, psychological parameters, behavioral questions, and medical data collection from the German consortium were used. A high participation rate was achieved among the study population, with 72 % returning the questionnaire. This study showed a rate of 59 % of full-adherers to the MBCS. Significant predictors for partial or full adherence were having children ( p  = 0.0221), younger daughters ( p  = 0.01795), a higher awareness of the topic HBOC ( p  = 0.01795, p  〈 0.0001), a higher perceived breast cancer risk ( p  〈 0.0001), and worries ( p  = 0.0008)/impairment ( p  = 0.0257) by it. Although the current data suggest a good adherence of MBCS, prospective studies are needed to understand counselees’ needs to further improve surveillance programs and adherence to them. Adherence to the breast cancer surveillance program for women at risk for familial breast and ovarian cancer versus overscreening—a monocenter study in Germany.
    Keywords: BRCA mutation ; Adherence ; Breast cancer ; Compliance ; Cancer surveillance program
    ISSN: 0167-6806
    E-ISSN: 1573-7217
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  • 8
    Language: English
    In: Archives of Gynecology and Obstetrics, 2016, Vol.294(5), pp.1011-1018
    Description: To access, purchase, authenticate, or subscribe to the full-text of this article, please visit this link: http://dx.doi.org/10.1007/s00404-016-4133-7 Byline: Sabine Eismann (1), Lisa Vetter (1), Monika Keller (2), Thomas Bruckner (3), Michael Golatta (1), Andre Hennings (1), Christoph Domschke (1), Nicola Dikow (4), Christof Sohn (1), Jorg Heil (1), Sarah Schott (1,5) Keywords: BRCA; Breast cancer; Satisfaction; Genetic counseling; Risk perception Abstract: Purpose Advances in genetics and increased public awareness increased the demand for interdisciplinary genetic outpatient consultation (IOGC). Communicating cancer risk is complex, and ideally information transfer should be individualized. Although psychological experiences with genetic testing have been studied in detail, studies on long-term experiences with IOGC and information transfer are lacking. We assessed patients' understanding and satisfaction with IOGC in families at risk of hereditary breast and ovarian cancer (HBOC) with the aim of informing best clinical practice, improving compliance and informed decision-making. Methods Female counselees referred for IOGC between July 1, 2009 and July 1, 2011 were eligible. Data were collected using a 47-item postal questionnaire to assess sociodemographic, psychological, behavioral parameters. Overall satisfaction and personal usefulness of IOGC were assessed with a five-point, and risk perception with a visual analog scale. Data were analyzed using Spearman rank, Wilcoxon U or Chi-squared test. Results 612 (72 %) of 849 women participated reported being highly satisfied (75 %, n = 430) and declared personal usefulness (73 %, n = 421) on average 3.5 years after IOGC. Women deemed "high risk" assessed their risk of developing BC as significantly higher than non-high-risk counselees (3.2 versus 3.0, p = 0.00484). Risk perception was lower in BRCA1/2 mutation carriers than in women with unclassified variants or no mutation (2.8 versus 3.5 and 3.1, respectively). Conclusion Women with an HBOC background have additional needs to achieve long-term satisfaction after IOGC. Prospective studies are required to optimize care for the increasing number of people who seek genetic consultation, particularly as the complexity of genetics knowledge increases. Author Affiliation: (1) Department of Obstetrics and Gynecology, University Hospital Heidelberg, Im Neuenheimer Feld 440, 69120, Heidelberg, Germany (2) Department of Psychosomatic, Internal Medicine, University Hospital Heidelberg, Im Neuenheimer Feld 410, 69120, Heidelberg, Germany (3) Institute of Medical Biometry and Informatics, University Hospital Heidelberg, Im Neuenheimer Feld 130.3, 69120, Heidelberg, Germany (4) Institute of Human Genetics, Heidelberg University, Im Neuenheimer Feld 440, 69120, Heidelberg, Germany (5) DKTK, German Cancer Research Center, DKFZ Heidelberg, Heidelberg, Germany Article History: Registration Date: 02/06/2016 Received Date: 09/05/2016 Accepted Date: 02/06/2016 Online Date: 10/06/2016 Article note: S. Eismann and L. Vetter contributed equally to this work.
    Keywords: BRCA ; Breast cancer ; Satisfaction ; Genetic counseling ; Risk perception
    ISSN: 0932-0067
    E-ISSN: 1432-0711
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  • 9
    Language: English
    In: Archives of Gynecology and Obstetrics, 2017, Vol.295(6), pp.1451-1458
    Description: To access, purchase, authenticate, or subscribe to the full-text of this article, please visit this link: http://dx.doi.org/10.1007/s00404-017-4376-y Byline: Sarah Schott (1,5,6), Lisa Vetter (1), Monika Keller (2), Thomas Bruckner (3), Michael Golatta (1), Sabine Eismann (1), Nicola Dikow (4), Christina Evers (4), Christof Sohn (1), Joerg Heil (1) Keywords: BRCA mutation; Breast cancer; Prophylactic mastectomy; Surveillance strategy Abstract: Background Some women of families at high risk of breast cancer (BC) choose prophylactic mastectomy (PM) in spite of ambiguous evidence for survival benefits. The aim of this study was to investigate counselees' characteristics, decisions on PM, and frequencies of different procedures to better understand how to tailor interventions. Patients and methods Eight hundred and forty-nine counselees who attended interdisciplinary consultation for genetic risk adjustment at the University Hospital Heidelberg between July 2009 and July 2011 received a tripartite questionnaire addressing sociodemographic characteristics, psychological parameters, behavioural questions, and medical data. Results Six hundred and twelve of the 849 counselees (72%) returned the questionnaire. Four hundred were classified as high risk of genetic BC (19.5% BRCA mutation carriers 4% unclassified variant (UV) and 76.5% calculated as high risk by pedigree). Two hundred and thirteen out of 400 (53%) were diagnosed with BC. Fourteen out of 54 (27%) BRCA mutation carriers with BC chose contralateral PM (CPM) compared to 24/126 (14%) without a mutation but with a personal BC history (p = 0.2175). Of those without BC, 12/27 (44%) mutation carriers opted for bilateral PM (BPM) compared to none without a mutation (p 〈 0.0001). Women who received any PM (CPM and BPM) reported a higher emotional burden from partners (p = 0.003) and family (p = 0.008), more worries regarding children and family (p = 0.003) and were associated with positive mutation status and higher heterozygous and lifetime risk (all p 〈 0.001). Conclusion Although evidence on survival benefit is unclear in several clinical situations, a relevant number of counselees opt for PM. Counselees may decide based on other reasons than survival benefit. Author Affiliation: (1) Department of Obstetrics and Gynaecology, University Hospital Heidelberg, Im Neuenheimer Feld 440, 69120, Heidelberg, Germany (2) Internal Medicine, Department of Psychosomatic, University Hospital Heidelberg, Heidelberg, Germany (3) Institute of Medical Biometry and Informatics, University Hospital Heidelberg, Im Neuenheimer Feld 130.3, 69120, Heidelberg, Germany (4) Institute of Human Genetics, Heidelberg University, Im Neuenheimer Feld 440, 69120, Heidelberg, Germany (5) German Cancer Consortium (DKTK), Heidelberg, Germany (6) German Cancer Research Center (DKFZ), Heidelberg, Germany Article History: Registration Date: 18/04/2017 Received Date: 06/03/2017 Accepted Date: 18/04/2017 Online Date: 24/04/2017
    Keywords: mutation ; Breast cancer ; Prophylactic mastectomy ; Surveillance strategy
    ISSN: 0932-0067
    E-ISSN: 1432-0711
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  • 10
    Language: English
    In: The American Journal of Human Genetics, 02 July 2015, Vol.97(1), pp.163-169
    Description: Acute liver failure (ALF) in infancy and childhood is a life-threatening emergency. Few conditions are known to cause recurrent acute liver failure (RALF), and in about 50% of cases, the underlying molecular cause remains unresolved. Exome sequencing in five unrelated individuals with fever-dependent RALF revealed biallelic mutations in Subsequent Sanger sequencing of in 15 additional unrelated individuals with RALF or ALF identified compound heterozygous mutations in an additional six individuals from five families. Immunoblot analysis of mutant fibroblasts showed reduced protein levels of NBAS and its proposed interaction partner p31, both involved in retrograde transport between endoplasmic reticulum and Golgi. We recommend analysis in individuals with acute infantile liver failure, especially if triggered by fever.
    Keywords: Biology
    ISSN: 0002-9297
    E-ISSN: 1537-6605
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