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  1. Article ; Online: Premature ovarian failure caused by a heterozygous missense mutation in POF1B and a reciprocal translocation 46,X,t(X;3)(q21.1;q21.3).

    Ledig, Susanne / Preisler-Adams, Sabine / Morlot, Susanne / Liehr, Thomas / Wieacker, Peter

    Sexual development : genetics, molecular biology, evolution, endocrinology, embryology, and pathology of sex determination and differentiation

    2015  Volume 9, Issue 2, Page(s) 86–90

    Abstract: In a patient affected by premature ovarian failure, a reciprocal translocation between chromosomes X and 3 and an additional heterozygous missense mutation in the X-linked gene POF1B were detected. Homozygosity for POF1B mutations is well-known to be ... ...

    Abstract In a patient affected by premature ovarian failure, a reciprocal translocation between chromosomes X and 3 and an additional heterozygous missense mutation in the X-linked gene POF1B were detected. Homozygosity for POF1B mutations is well-known to be associated with premature ovarian failure. In this case, the rare combination of skewed X inactivation due to the reciprocal translocation involving one X chromosome and heterozygosity for a known POF1B mutation explains the phenotype.
    MeSH term(s) Adult ; Chromosome Banding ; Chromosomes, Human, Pair 3/genetics ; Chromosomes, Human, X/genetics ; Female ; Heterozygote ; Humans ; Mutation, Missense/genetics ; Polymerase Chain Reaction ; Primary Ovarian Insufficiency/genetics ; Proteins/genetics ; Translocation, Genetic ; X Chromosome Inactivation/genetics
    Chemical Substances POF1B protein, human ; Proteins
    Language English
    Publishing date 2015
    Publishing country Switzerland
    Document type Case Reports ; Journal Article
    ZDB-ID 2253672-3
    ISSN 1661-5433 ; 1661-5425
    ISSN (online) 1661-5433
    ISSN 1661-5425
    DOI 10.1159/000373906
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  2. Article: Premature Ovarian Failure Caused by a Heterozygous Missense Mutation in ; and a Reciprocal Translocation 46,X,t(X;3)(q21.1;q21.3)

    Ledig, Susanne / Preisler-Adams, Sabine / Morlot, Susanne / Liehr, Thomas / Wieacker, Peter

    Sexual Development

    2015  Volume 9, Issue 2, Page(s) 86–90

    Abstract: In a patient affected by premature ovarian failure, a reciprocal translocation between chromosomes X and 3 and an additional heterozygous missense mutation in the X-linked gene POF1B were detected. Homozygosity for POF1B mutations is well-known to be ... ...

    Institution Institute of Human Genetics, University Hospital Münster, Münster Institute for Cell and Molecular Pathology, Hannover Medical School, Hannover, and Institute of Human Genetics, University Hospital Jena, Jena, Germany
    Abstract In a patient affected by premature ovarian failure, a reciprocal translocation between chromosomes X and 3 and an additional heterozygous missense mutation in the X-linked gene POF1B were detected. Homozygosity for POF1B mutations is well-known to be associated with premature ovarian failure. In this case, the rare combination of skewed X inactivation due to the reciprocal translocation involving one X chromosome and heterozygosity for a known POF1B mutation explains the phenotype.
    Keywords Missense mutation ; <italic>POF1B</italic> ; Premature ovarian failure ; Reciprocal translocation
    Language English
    Publishing date 2015-02-11
    Publisher S. Karger AG
    Publishing place Basel, Switzerland
    Document type Article
    Note Short Report
    ZDB-ID 2253672-3
    ISSN 1661-5433 ; 1661-5425
    ISSN (online) 1661-5433
    ISSN 1661-5425
    DOI 10.1159/000373906
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  3. Article ; Online: Sweating ability and genotype in individuals with X-linked hypohidrotic ectodermal dysplasia.

    Schneider, Holm / Hammersen, Johanna / Preisler-Adams, Sabine / Huttner, Kenneth / Rascher, Wolfgang / Bohring, Axel

    Journal of medical genetics

    2011  Volume 48, Issue 6, Page(s) 426–432

    Abstract: Background: X-linked hypohidrotic ectodermal dysplasia (XLHED), the most common type of ectodermal dysplasia, is caused by EDA gene mutations. Reduced sweating contributes substantially to XLHED associated morbidity and mortality. To characterise the ... ...

    Abstract Background: X-linked hypohidrotic ectodermal dysplasia (XLHED), the most common type of ectodermal dysplasia, is caused by EDA gene mutations. Reduced sweating contributes substantially to XLHED associated morbidity and mortality. To characterise the genotype-phenotype relationship, sweat gland function was assessed non-invasively in XLHED patients and healthy controls.
    Subjects and methods: In 36 genotyped XLHED patients and 29 control subjects aged 0-57 years, pilocarpine-induced sweat volume, palmar sweat pore density, and palmar skin conductance before and after stimulation were determined.
    Results: Among 31 XLHED males, 14 had neither detectable sweat pores nor inducible sweating, 10 showed a few sweat pores but absent sweating, and 7 produced reduced sweat volumes (1-11 μl) as compared with controls (38-93 μl). Two of the low sweating XLHED subjects had normal sweat pore counts. In all 5 heterozygous females, some sweat was detected, but generally less than in female controls. Basal and stimulated skin conductance readings were reduced in 23 of 24 non-sweating, but only in 3 of 12 low-sweating XLHED subjects. There was no correlation between sweat production and number of missing teeth.
    Conclusions: In contrast to prior reports on non-genotyped hypohidrotic ectodermal dysplasia populations, this study confirmed a consistent, quantifiable defect of sweat gland function in male XLHED subjects as a disease biomarker. Among 26 different EDA genotypes, specific mutations were shown to be consistently associated with anhidrosis, implying that systematic mapping of EDA mutations together with the analysis of objective clinical data may help to distinguish functionally crucial mutations from those allowing residual activity of the gene product.
    MeSH term(s) Adolescent ; Adult ; Base Sequence ; Case-Control Studies ; Child ; Child, Preschool ; Ectodermal Dysplasia 1, Anhidrotic/genetics ; Ectodysplasins/genetics ; Exons ; Female ; Galvanic Skin Response/drug effects ; Genes, X-Linked ; Genetic Association Studies ; Genotype ; Humans ; Hypohidrosis/genetics ; Infant ; Male ; Middle Aged ; Molecular Sequence Data ; Mutation ; Phenotype ; Pilocarpine/pharmacology ; Sweat Glands/abnormalities ; Sweating/drug effects ; Sweating/genetics
    Chemical Substances EDA protein, human ; Ectodysplasins ; Pilocarpine (01MI4Q9DI3)
    Language English
    Publishing date 2011-06
    Publishing country England
    Document type Journal Article ; Research Support, Non-U.S. Gov't
    ZDB-ID 220881-7
    ISSN 1468-6244 ; 0022-2593
    ISSN (online) 1468-6244
    ISSN 0022-2593
    DOI 10.1136/jmg.2010.084012
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  4. Article ; Online: Constitutive promoter methylation of BRCA1 and RAD51C in patients with familial ovarian cancer and early-onset sporadic breast cancer.

    Hansmann, Tamara / Pliushch, Galyna / Leubner, Monika / Kroll, Patricia / Endt, Daniela / Gehrig, Andrea / Preisler-Adams, Sabine / Wieacker, Peter / Haaf, Thomas

    Human molecular genetics

    2012  Volume 21, Issue 21, Page(s) 4669–4679

    Abstract: Genetic defects in breast cancer (BC) susceptibility genes, most importantly BRCA1 and BRCA2, account for ~40% of hereditary BC and ovarian cancer (OC). Little is known about the contribution of constitutive (soma-wide) epimutations to the remaining ... ...

    Abstract Genetic defects in breast cancer (BC) susceptibility genes, most importantly BRCA1 and BRCA2, account for ~40% of hereditary BC and ovarian cancer (OC). Little is known about the contribution of constitutive (soma-wide) epimutations to the remaining cases. We developed bisulfite pyrosequencing assays to screen >600 affected BRCA1/BRCA2 mutation-negative patients from the German Consortium for Hereditary Breast and Ovarian Cancer for constitutive hypermethylation of ATM, BRCA1, BRCA2, RAD51C, PTEN and TP53 in blood cells. In a second step, patients with ≥6% promoter methylation were analyzed by bisulfite plasmid sequencing to demonstrate the presence of hypermethylated alleles (epimutations), indicative of epigenetic gene silencing. Altogether we identified nine (1.4%) patients with constitutive BRCA1 and three (0.5%) with RAD51C hypermethylation. Epimutations were found in both sporadic cases, in particular in 2 (5.5%) of 37 patients with early-onset BC, and familial cases, in particular 4 (10%) of 39 patients with OC. Hypermethylation was always confined to one of the two parental alleles in a subset (12-40%) of the analyzed cells. Because epimutations occurred in cell types from different embryonal layers, they most likely originated in single cells during early somatic development. We propose that analogous to germline genetic mutations constitutive epimutations may serve as the first hit of tumor development. Because the role of constitutive epimutations in cancer development is likely to be largely underestimated, future strategies for effective testing of susceptibility to BC and OC should include an epimutation screen.
    MeSH term(s) Adult ; Age of Onset ; BRCA1 Protein/genetics ; Breast Neoplasms/genetics ; Breast Neoplasms/pathology ; Cell Transformation, Neoplastic ; DNA Methylation/genetics ; DNA-Binding Proteins/genetics ; Epigenesis, Genetic ; Female ; Gene Silencing ; Genetic Predisposition to Disease ; Humans ; Mutation ; Ovarian Neoplasms/genetics ; Ovarian Neoplasms/pathology ; Promoter Regions, Genetic
    Chemical Substances BRCA1 Protein ; BRCA1 protein, human ; DNA-Binding Proteins ; RAD51C protein, human
    Language English
    Publishing date 2012-07-27
    Publishing country England
    Document type Journal Article ; Research Support, Non-U.S. Gov't
    ZDB-ID 1108742-0
    ISSN 1460-2083 ; 0964-6906
    ISSN (online) 1460-2083
    ISSN 0964-6906
    DOI 10.1093/hmg/dds308
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    Zs.A 3469: Show issues Location:
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  5. Article ; Online: Hb Riesa or β93 (F9) Cys→Ser, a new electrophoretically silent haemoglobin variant interfering with haemoglobin A1c measurement.

    Bissé, Emmanuel / Hovasse, Agnès / Preisler-Adams, Sabine / Epting, Thomas / Wagner, Oswald / Kögel, Gabriele / Van Dorsselaer, Alain / Schaeffer-Reiss, Christine

    Journal of chromatography. B, Analytical technologies in the biomedical and life sciences

    2011  Volume 879, Issue 28, Page(s) 2952–2956

    Abstract: A new β variant was found in a German diabetic patient whose blood samples appeared to contain 45% Hb A(1c) using Bio-Rad Variant V-II A1c-analyzer but 7.6% on boronate affinity chromatography. Structural studies using, HPLC, mass spectrometry, and the ... ...

    Abstract A new β variant was found in a German diabetic patient whose blood samples appeared to contain 45% Hb A(1c) using Bio-Rad Variant V-II A1c-analyzer but 7.6% on boronate affinity chromatography. Structural studies using, HPLC, mass spectrometry, and the genomic DNA analysis revealed a new substitution in which the cysteine residue at position β93 was replaced by serine. The variant was named Hb Riesa or β93 (F9) Cys→Ser and accounted for 54.3% of the total haemoglobin. This suggests that the protein-synthesis processes for the mutant could be slightly more promoted than those of the wild-type. Hb Riesa is clinically and electrophoretically silent.
    MeSH term(s) Amino Acid Sequence ; Amino Acid Substitution ; Chromatography, High Pressure Liquid ; Cysteine/genetics ; Cysteine/metabolism ; Diabetes Mellitus, Type 1/blood ; Diabetes Mellitus, Type 1/genetics ; Genetic Variation ; Glycated Hemoglobin A/chemistry ; Glycated Hemoglobin A/genetics ; Humans ; Male ; Middle Aged ; Molecular Sequence Data ; Mutation, Missense ; Serine/genetics ; Serine/metabolism ; Spectrometry, Mass, Electrospray Ionization ; beta-Globins/genetics ; beta-Globins/metabolism
    Chemical Substances Glycated Hemoglobin A ; beta-Globins ; Serine (452VLY9402) ; Cysteine (K848JZ4886)
    Language English
    Publishing date 2011-10-15
    Publishing country Netherlands
    Document type Case Reports ; Journal Article
    ZDB-ID 1180823-8
    ISSN 1873-376X ; 0378-4347 ; 1570-0232 ; 1387-2273
    ISSN (online) 1873-376X
    ISSN 0378-4347 ; 1570-0232 ; 1387-2273
    DOI 10.1016/j.jchromb.2011.08.016
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  6. Article: Gross rearrangements in BRCA1 but not BRCA2 play a notable role in predisposition to breast and ovarian cancer in high-risk families of German origin.

    Preisler-Adams, Sabine / Schönbuchner, Ines / Fiebig, Britta / Welling, Brigitte / Dworniczak, Bernd / Weber, Bernhard H F

    Cancer genetics and cytogenetics

    2006  Volume 168, Issue 1, Page(s) 44–49

    Abstract: A total of 226 index cases from high-risk hereditary breast and ovarian cancer families of German origin who had tested negative for small nucleotide alterations in BRCA1 and BRCA2 were analyzed for gross genomic rearrangements at the two gene loci by ... ...

    Abstract A total of 226 index cases from high-risk hereditary breast and ovarian cancer families of German origin who had tested negative for small nucleotide alterations in BRCA1 and BRCA2 were analyzed for gross genomic rearrangements at the two gene loci by the multiplex ligation-dependent probe amplification technique. Six large genomic alterations were identified in BRCA1, while no gross rearrangements were found in BRCA2. The six BRCA1 mutations included two novel mutations including a deletion of exon 5, and a deletion comprising exons 5-7, as well as three distinct gross alterations previously reported, including a deletion of exons 1A, 1B, and 2, two duplications of exon 13, and a deletion of exon 17. To understand the mechanisms underlying the genomic rearrangements within the BRCA1 gene and to provide a simple PCR-based assay for further diagnostic applications, we have defined the molecular breakpoints of the deletion/insertion mutations. In all cases, our data point to a mechanism by which illegitimate crossing over between stretches of direct repeat sequences as small as 9 base pairs (bp) and up to 188 bp may have occurred. Overall, we provide evidence that gross rearrangements within the BRCA1 gene locus may be as frequent as 3% in primarily mutation-negative tested high-risk familial breast and ovarian cancer of German ancestry, while large alterations involving the BRCA2 locus do not appear to play a significant role in disease etiology. These findings have important implications for genetic counseling and testing of high-risk breast and ovarian cancer families.
    MeSH term(s) Adult ; Base Sequence ; Breast Neoplasms/genetics ; Female ; Gene Deletion ; Genes, BRCA1 ; Genes, BRCA2 ; Genetic Predisposition to Disease ; Germany ; Humans ; Middle Aged ; Mutagenesis, Insertional ; Mutation ; Ovarian Neoplasms/genetics ; Point Mutation ; RNA, Messenger/genetics
    Chemical Substances RNA, Messenger
    Language English
    Publishing date 2006-07-01
    Publishing country United States
    Document type Journal Article ; Research Support, Non-U.S. Gov't
    ZDB-ID 800806-1
    ISSN 1873-4456 ; 0165-4608
    ISSN (online) 1873-4456
    ISSN 0165-4608
    DOI 10.1016/j.cancergencyto.2005.07.005
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  7. Article: Haemoglobin Noah Mehmet Oeztuerk (alpha(2) delta(2)143 (H21)His-->Tyr: A novel delta-chain variant in the 2,3-DPG binding site.

    Bissé, Emmanuel / Schaeffer, Christine / Hovasse, Agnès / Preisler-Adams, Sabine / Epting, Thomas / Baumstark, Manfred / Van Dorsselaer, Alain / Horst, Jürgen / Wieland, Heinrich

    Journal of chromatography. B, Analytical technologies in the biomedical and life sciences

    2008  Volume 871, Issue 1, Page(s) 55–59

    Abstract: A new delta-chain variant, delta143 (H21) His-->Tyr or Hb Noah Mehmet Oeztuerk, was discovered during the investigation of the cause of hemolytic anaemia in a 6-month-old infant of Turkish descent. It was detected by Cation exchange high-performance ... ...

    Abstract A new delta-chain variant, delta143 (H21) His-->Tyr or Hb Noah Mehmet Oeztuerk, was discovered during the investigation of the cause of hemolytic anaemia in a 6-month-old infant of Turkish descent. It was detected by Cation exchange high-performance liquid chromatography (CE-HPLC) using PolyCAT A column. P(50) was 20.6+/-0.60 mmHg and 29.3+/-0.40 mmHg for the carrier and the wild-type, respectively. This suggests an increase in oxygen affinity. On routine CE-HPLC Hb A(2) was low (1.2%) and the variant was not detected. An extended family study revealed that the variant was not associated with the anaemia or with any other clinical abnormality.
    MeSH term(s) Anemia, Hemolytic/blood ; Binding Sites ; Hemoglobins, Abnormal/genetics ; Humans ; Infant ; Male ; Mass Spectrometry
    Chemical Substances Hemoglobins, Abnormal ; hemoglobin Noah Mehmet Oeztuerk
    Language English
    Publishing date 2008-08-01
    Publishing country Netherlands
    Document type Journal Article
    ISSN 1570-0232
    ISSN 1570-0232
    DOI 10.1016/j.jchromb.2008.06.055
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  8. Article: Haemoglobin Hokusetsu [beta52 (D3)] Asp-->Gly in German families associated with inclusion body.

    Bissé, Emmanuel / Zorn, Nathalie / Preisler-Adams, Sabine / Epting, Thomas / Sommer, Olaf / Schaeffer, Christine / Van Dorsselaer, Alain / Horst, Jürgen / Wieland, Heinrich

    Annals of hematology

    2008  Volume 87, Issue 6, Page(s) 463–466

    Abstract: Inclusion bodies associated with Hb Hokusetsu have never been published. We investigated the autoxidation of this variant as a cause for the inclusion bodies in three unrelated families. Moreover, haplotype analysis was carried out to unravel the origin ... ...

    Abstract Inclusion bodies associated with Hb Hokusetsu have never been published. We investigated the autoxidation of this variant as a cause for the inclusion bodies in three unrelated families. Moreover, haplotype analysis was carried out to unravel the origin of this variant also found in the Japanese population. The presence of inclusion bodies was revealed by incubating the fresh peripheral blood with brilliant cresyl blue. We further characterised this variant using mass spectrometry and DNA analysis. The generation of superoxide radical (ROS) during the autoxidation was assayed by electron spin resonance spectrometry. Inclusion bodies were seen in about 25% of red cells. Hb Hokusetsu turned out to be less thermostable than the control. It showed a tenfold-enhanced ROS formation versus control. The analysis of the beta-globin haplotypes for the three unrelated families showed that Hb Hokosetsu was linked with haplotype I (5' + - - - - + + 3'). This is the first case published in the German population. The inclusion bodies could be due to the instability of the variant. This is supported by the increased autoxidation. The absence of anaemia evokes an elimination of the inclusion bodies by the proteolytic mechanism of the red cells. The association of the variant in three unrelated families with the five polymorphisms of haplotype I indicates a single common mutation event. In the presence of Hb Hokusetsu, HbA 1C standard methods used to assess glycaemic control are mistaken.
    MeSH term(s) Amino Acid Substitution ; Aspartic Acid ; DNA Primers ; Family ; Female ; Genetic Variation ; Germany ; Globins/genetics ; Glycine ; Hemoglobins/genetics ; Hemoglobins, Abnormal/genetics ; Humans ; Male
    Chemical Substances DNA Primers ; Hemoglobins ; Hemoglobins, Abnormal ; hemoglobin Hokusetsu ; Aspartic Acid (30KYC7MIAI) ; Globins (9004-22-2) ; Glycine (TE7660XO1C)
    Language English
    Publishing date 2008-06
    Publishing country Germany
    Document type Journal Article
    ZDB-ID 1064950-5
    ISSN 1432-0584 ; 0939-5555 ; 0945-8077
    ISSN (online) 1432-0584
    ISSN 0939-5555 ; 0945-8077
    DOI 10.1007/s00277-008-0453-4
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  9. Article ; Online: The risk of contralateral breast cancer in patients from BRCA1/2 negative high risk families as compared to patients from BRCA1 or BRCA2 positive families: a retrospective cohort study.

    Rhiem, Kerstin / Engel, Christoph / Graeser, Monika / Zachariae, Silke / Kast, Karin / Kiechle, Marion / Ditsch, Nina / Janni, Wolfgang / Mundhenke, Christoph / Golatta, Michael / Varga, Dominic / Preisler-Adams, Sabine / Heinrich, Tilman / Bick, Ulrich / Gadzicki, Dorothea / Briest, Susanne / Meindl, Alfons / Schmutzler, Rita K

    Breast cancer research : BCR

    2012  Volume 14, Issue 6, Page(s) R156

    Abstract: Introduction: While it has been reported that the risk of contralateral breast cancer in patients from BRCA1 or BRCA2 positive families is elevated, little is known about contralateral breast cancer risk in patients from high risk families that tested ... ...

    Abstract Introduction: While it has been reported that the risk of contralateral breast cancer in patients from BRCA1 or BRCA2 positive families is elevated, little is known about contralateral breast cancer risk in patients from high risk families that tested negative for BRCA1/2 mutations.
    Methods: A retrospective, multicenter cohort study was performed from 1996 to 2011 and comprised 6,235 women with unilateral breast cancer from 6,230 high risk families that had tested positive for BRCA1 (n = 1,154) or BRCA2 (n = 575) mutations or tested negative (n = 4,501). Cumulative contralateral breast cancer risks were calculated using the Kaplan-Meier product-limit method and were compared between groups using the log-rank test. Cox regression analysis was applied to assess the impact of the age at first breast cancer and the familial history stratified by mutation status.
    Results: The cumulative risk of contralateral breast cancer 25 years after first breast cancer was 44.1% (95%CI, 37.6% to 50.6%) for patients from BRCA1 positive families, 33.5% (95%CI, 22.4% to 44.7%) for patients from BRCA2 positive families and 17.2% (95%CI, 14.5% to 19.9%) for patients from families that tested negative for BRCA1/2 mutations. Younger age at first breast cancer was associated with a higher risk of contralateral breast cancer. For women who had their first breast cancer before the age of 40 years, the cumulative risk of contralateral breast cancer after 25 years was 55.1% for BRCA1, 38.4% for BRCA2, and 28.4% for patients from BRCA1/2 negative families. If the first breast cancer was diagnosed at the age of 50 or later, 25-year cumulative risks were 21.6% for BRCA1, 15.5% for BRCA2, and 12.9% for BRCA1/2 negative families.
    Conclusions: Contralateral breast cancer risk in patients from high risk families that tested negative for BRCA1/2 mutations is similar to the risk in patients with sporadic breast cancer. Thus, the mutation status should guide decision making for contralateral mastectomy.
    MeSH term(s) Age Factors ; BRCA1 Protein/genetics ; BRCA2 Protein/genetics ; Breast/pathology ; Breast Neoplasms/epidemiology ; Breast Neoplasms/genetics ; Breast Neoplasms/pathology ; Cohort Studies ; Female ; Genetic Predisposition to Disease ; Humans ; Retrospective Studies ; Risk
    Chemical Substances BRCA1 Protein ; BRCA1 protein, human ; BRCA2 Protein ; BRCA2 protein, human
    Language English
    Publishing date 2012-12-07
    Publishing country England
    Document type Comparative Study ; Journal Article ; Multicenter Study
    ZDB-ID 2015059-3
    ISSN 1465-542X ; 1465-5411
    ISSN (online) 1465-542X
    ISSN 1465-5411
    DOI 10.1186/bcr3369
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  10. Article ; Online: Association of death receptor 4 variant (683A > C) with ovarian cancer risk in BRCA1 mutation carriers.

    Dick, Michelle G / Versmold, Beatrix / Engel, Christoph / Meindl, Alfons / Arnold, Norbert / Varon-Mateeva, Raymonda / Sutter, Christian / Niederacher, Dieter / Deissler, Helmut / Preisler-Adams, Sabine / Kast, Karin / Schäfer, Dieter / Gadzicki, Dorothea / Heinritz, Wolfram / Wappenschmidt, Barbara / Schmutzler, Rita K

    International journal of cancer

    2012  Volume 130, Issue 6, Page(s) 1314–1318

    Abstract: Dysregulation of apoptosis plays an important role in carcinogenesis. Therefore, apoptosis-associated genes like the death receptor 4 (DR4, TRAIL-R1) are interesting candidates for modifying the penetrance of breast and ovarian cancer in carriers of ... ...

    Abstract Dysregulation of apoptosis plays an important role in carcinogenesis. Therefore, apoptosis-associated genes like the death receptor 4 (DR4, TRAIL-R1) are interesting candidates for modifying the penetrance of breast and ovarian cancer in carriers of BRCA1 and BRCA2 mutations. The DR-4 haplotype 626C-683C [626C > G, Thr209Arg (rs4871857) and 683A > C, Glu228Ala (rs17088993)] has recently been linked to an increased risk of breast cancer. To evaluate whether DR4 626C > G or DR4 683A > C modifies the risk of breast or ovarian cancer in carriers of BRCA1 and BRCA2 mutations, we undertook a national multicenter study including data of 840 carriers of breast cancer gene (BRCA) mutations. DNA samples were collected from 12 German research centers between 1996 and 2005 and were genotyped by the Taqman allelic discrimination assay. The association between genotypes and incidence of breast or ovarian cancer data was evaluated using a Cox proportional hazards regression model. We found evidence for a significant association of DR4 683A > C with a higher risk for ovarian cancer in carriers of BRCA1 mutations [n = 557, hazard ratio 1.78 (1.24-2.55), p = 0.009]. Our results thus indicate that the DR4 683A > C variant modifies the risk of ovarian cancer in carriers of BRCA1 mutations.
    MeSH term(s) Adolescent ; Alleles ; BRCA2 Protein/genetics ; Breast Neoplasms/genetics ; Female ; Genetic Predisposition to Disease ; Genotype ; Humans ; Mutation ; Ovarian Neoplasms/genetics ; Polymorphism, Single Nucleotide ; Proportional Hazards Models ; Receptors, TNF-Related Apoptosis-Inducing Ligand/genetics ; Ubiquitin-Protein Ligases/genetics
    Chemical Substances BRCA2 Protein ; BRCA2 protein, human ; Receptors, TNF-Related Apoptosis-Inducing Ligand ; TNFRSF10A protein, human ; BRAP protein, human (EC 2.3.2.27) ; Ubiquitin-Protein Ligases (EC 2.3.2.27)
    Language English
    Publishing date 2012-03-15
    Publishing country United States
    Document type Journal Article ; Research Support, Non-U.S. Gov't
    ZDB-ID 218257-9
    ISSN 1097-0215 ; 0020-7136
    ISSN (online) 1097-0215
    ISSN 0020-7136
    DOI 10.1002/ijc.26134
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