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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 http://www.deepdyve.com/assets/images/DeepDyve-Logo-lg.png Archives of Gynecology and Obstetrics Springer Journals

Reply to letter by Dr. G. Corso

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....
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References (1)

Publisher
Springer Journals
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
DOI
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

Journal

Archives of Gynecology and ObstetricsSpringer Journals

Published: Feb 28, 2018

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