Reply to letter by Dr. G. Corso

Reply to letter by Dr. G. Corso Archives of Gynecology and Obstetrics (2018) 297:1069 https://doi.org/10.1007/s00404-018-4682-z CORRESPONDENCE 1 2,3 2 1 1 Frederik Stuebs  · Simone Heidemann  · Almuth Caliebe  · Christoph Mundhenke  · Norbert Arnold Received: 16 January 2018 / Accepted: 18 January 2018 / Published online: 28 February 2018 © Springer-Verlag GmbH Germany, part of Springer Nature 2018 We would like to thank Giovanni Corso et al. for their “Let- mutation. Unfortunately, we had no possibilities to test the ter to the editor”. In our study, we screened 97 individuals segregation of this missense variant S838G in other family for CDH1 mutations. Screening revealed two missense vari- members. This is why, we cannot exclude that this CDH1 ants in independent families. The first alteration, A592T, was variant could have a modifying influence on breast cancer classified as neutral. The other variant, S838G, was detected causing the lobular histology. in an unaffected woman with a family history of BRCA1- The clinical management option mentioned in the letter positive breast- and ovarian cancer without gastric cancer. of Corso et al. should be regarded with caution if no clear Our index case was tested negative for the familial BRCA1 deleterious alteration is found in the gene, because the clini- mutation. In the past, the variant S838G has been classi- cal consequences for the patient not only psychologically but fied as potentially deleterious [ 1]. Searching the Alamut- also physically are very harmful. Due to the present evidence Database (Alamut Visual 2.10) revealed contradictory rating regarding the missense variant S838G, we presently do not of the variant from likely benign to pathogenic, whereas see any need for clinical intervention. the pathogenic classification probably also was judged by However, we agree that, based on the literature, there is the paper of Risinger et al. [1]. In addition, in dbSNP, one a connection between CDH1 alteration and the lobular type will find this spectrum of rating (rs121964872). A request of breast cancer, and this may fulfill the criteria of an inde - to Ambry Genetics for the reason why they judge the variant pendent syndrome. as likely benign revealed following answer: The serine at codon 838 is replaced by glycine, an amino acid with similar Compliance with ethical standards properties. This amino acid position is well conserved in Conflict of interest The author declare that there is no interest of con- available vertebrate species. This variant has been seen in flict for all authors. several families whose clinical histories are not consistent with hereditary diffuse gastric cancer or other CDH1-related cancers (Ambry Internal data). In addition, this alteration Reference is predicted to be benign and tolerated by PolyPhen and SIFT in silico analyses, respectively. Based on the majority 1. Risinger JI, Berchuck A, Kohler MF, Boyd J (1994) Mutations of available evidence to date, this variant is unlikely to be of the E-cadherin gene in human gynecologic cancers. Nat Genet pathogenic. Therefore, the cases of breast and ovarian cancer 7:98–102 in the reported family are most likely caused by the BRCA1 * Frederik Stuebs frederik.stuebs@uk-erlangen.de Department of Gynaecology and Obstetrics, University Hospital of Schleswig-Holstein, Campus Kiel, Christian- Albrechts University Kiel, Kiel, Germany Department of Human Genetics, University Hospital Schleswig-Holstein, Campus Kiel, Christian-Albrechts-Unive rsity, Kiel, Germany Present Address: Institute of Tumor Genetics North, Kiel, Germany Vol.:(0123456789) 1 3 http://www.deepdyve.com/assets/images/DeepDyve-Logo-lg.png Archives of Gynecology and Obstetrics Springer Journals

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Publisher
Springer Berlin Heidelberg
Copyright
Copyright © 2018 by Springer-Verlag GmbH Germany, part of Springer Nature
Subject
Medicine & Public Health; Gynecology; Obstetrics/Perinatology/Midwifery; Endocrinology; Human Genetics
ISSN
0932-0067
eISSN
1432-0711
D.O.I.
10.1007/s00404-018-4682-z
Publisher site
See Article on Publisher Site

Abstract

Archives of Gynecology and Obstetrics (2018) 297:1069 https://doi.org/10.1007/s00404-018-4682-z CORRESPONDENCE 1 2,3 2 1 1 Frederik Stuebs  · Simone Heidemann  · Almuth Caliebe  · Christoph Mundhenke  · Norbert Arnold Received: 16 January 2018 / Accepted: 18 January 2018 / Published online: 28 February 2018 © Springer-Verlag GmbH Germany, part of Springer Nature 2018 We would like to thank Giovanni Corso et al. for their “Let- mutation. Unfortunately, we had no possibilities to test the ter to the editor”. In our study, we screened 97 individuals segregation of this missense variant S838G in other family for CDH1 mutations. Screening revealed two missense vari- members. This is why, we cannot exclude that this CDH1 ants in independent families. The first alteration, A592T, was variant could have a modifying influence on breast cancer classified as neutral. The other variant, S838G, was detected causing the lobular histology. in an unaffected woman with a family history of BRCA1- The clinical management option mentioned in the letter positive breast- and ovarian cancer without gastric cancer. of Corso et al. should be regarded with caution if no clear Our index case was tested negative for the familial BRCA1 deleterious alteration is found in the gene, because the clini- mutation. In the past, the variant S838G has been classi- cal consequences for the patient not only psychologically but fied as potentially deleterious [ 1]. Searching the Alamut- also physically are very harmful. Due to the present evidence Database (Alamut Visual 2.10) revealed contradictory rating regarding the missense variant S838G, we presently do not of the variant from likely benign to pathogenic, whereas see any need for clinical intervention. the pathogenic classification probably also was judged by However, we agree that, based on the literature, there is the paper of Risinger et al. [1]. In addition, in dbSNP, one a connection between CDH1 alteration and the lobular type will find this spectrum of rating (rs121964872). A request of breast cancer, and this may fulfill the criteria of an inde - to Ambry Genetics for the reason why they judge the variant pendent syndrome. as likely benign revealed following answer: The serine at codon 838 is replaced by glycine, an amino acid with similar Compliance with ethical standards properties. This amino acid position is well conserved in Conflict of interest The author declare that there is no interest of con- available vertebrate species. This variant has been seen in flict for all authors. several families whose clinical histories are not consistent with hereditary diffuse gastric cancer or other CDH1-related cancers (Ambry Internal data). In addition, this alteration Reference is predicted to be benign and tolerated by PolyPhen and SIFT in silico analyses, respectively. Based on the majority 1. Risinger JI, Berchuck A, Kohler MF, Boyd J (1994) Mutations of available evidence to date, this variant is unlikely to be of the E-cadherin gene in human gynecologic cancers. Nat Genet pathogenic. Therefore, the cases of breast and ovarian cancer 7:98–102 in the reported family are most likely caused by the BRCA1 * Frederik Stuebs frederik.stuebs@uk-erlangen.de Department of Gynaecology and Obstetrics, University Hospital of Schleswig-Holstein, Campus Kiel, Christian- Albrechts University Kiel, Kiel, Germany Department of Human Genetics, University Hospital Schleswig-Holstein, Campus Kiel, Christian-Albrechts-Unive rsity, Kiel, Germany Present Address: Institute of Tumor Genetics North, Kiel, Germany Vol.:(0123456789) 1 3

Journal

Archives of Gynecology and ObstetricsSpringer Journals

Published: Feb 28, 2018

References

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