<?xml version="1.0" encoding="UTF-8"?>
<!DOCTYPE article PUBLIC "-//NLM//DTD JATS (Z39.96) Journal Publishing DTD v1.3 20210610//EN" "JATS-journalpublishing1-3.dtd">
<article article-type="research-article" dtd-version="1.3" xmlns:mml="http://www.w3.org/1998/Math/MathML" xmlns:xlink="http://www.w3.org/1999/xlink" xmlns:xsi="http://www.w3.org/2001/XMLSchema-instance" xml:lang="ru"><front><journal-meta><journal-id journal-id-type="publisher-id">oncotomsk</journal-id><journal-title-group><journal-title xml:lang="ru">Сибирский онкологический журнал</journal-title><trans-title-group xml:lang="en"><trans-title>Siberian journal of oncology</trans-title></trans-title-group></journal-title-group><issn pub-type="ppub">1814-4861</issn><issn pub-type="epub">2312-3168</issn><publisher><publisher-name>Tomsk National Research Medical Сепtеr of the Russian Academy of Sciences</publisher-name></publisher></journal-meta><article-meta><article-id pub-id-type="doi">10.21294/1814-4861-2018-17-4-48-52</article-id><article-id custom-type="elpub" pub-id-type="custom">oncotomsk-815</article-id><article-categories><subj-group subj-group-type="heading"><subject>Research Article</subject></subj-group><subj-group subj-group-type="section-heading" xml:lang="ru"><subject>КЛИНИЧЕСКИЕ ИССЛЕДОВАНИЯ</subject></subj-group><subj-group subj-group-type="section-heading" xml:lang="en"><subject>CLINICAL STUDIES</subject></subj-group></article-categories><title-group><article-title>НАСЛЕДСТВЕННЫЙ РАК ЖЕЛУДКА ДИФФУЗНОГО ТИПА: ГЕНЕТИЧЕСКИЕ АСПЕКТЫ И ПРОФИЛАКТИЧЕСКАЯ ТОТАЛЬНАЯ ГАСТРЭКТОМИЯ</article-title><trans-title-group xml:lang="en"><trans-title>HEREDITARY DIFFUSE GASTRIC CANCER: GENETIC ASPECTS AND PROPHYLACTIC TOTAL GASTRECTOMY</trans-title></trans-title-group></title-group><contrib-group><contrib contrib-type="author" corresp="yes"><name-alternatives><name name-style="eastern" xml:lang="ru"><surname>Любченко</surname><given-names>Л. Н.</given-names></name><name name-style="western" xml:lang="en"><surname>Lyubchenko</surname><given-names>L. N.</given-names></name></name-alternatives><bio xml:lang="ru"><p>Россия, 115478, г. Москва, Каширское шоссе, 24</p><p>доктор медицинских наук, руководитель лаборатории клинической онкогенетики, ФГБУ «Национальный медицинский исследовательский центр онкологии им. Н.Н. Блохина» МЗ РФ </p><p>SPIN-код: 9589-9057. Author ID (Scopus): 6603827727</p></bio><bio xml:lang="en"><p>24, Kashirskoye shosse, 115478-Moscow, Russia</p><p>MD, DSc, Head of Laboratory of Clinical Oncogenetics, FSBI «N.N. Blokhin National Medical Research Center of Oncology» of the Ministry of Health of the Russian Federation</p><p>Author ID (Scopus): 6603827727</p></bio><email xlink:type="simple">clingen@mail.ru</email><xref ref-type="aff" rid="aff-1"/></contrib><contrib contrib-type="author" corresp="yes"><name-alternatives><name name-style="eastern" xml:lang="ru"><surname>Филиппова</surname><given-names>М. Г.</given-names></name><name name-style="western" xml:lang="en"><surname>Filippova</surname><given-names>M. G.</given-names></name></name-alternatives><bio xml:lang="ru"><p>Россия, 115478, г. Москва, Каширское шоссе, 24</p><p>кандидат медицинских наук, старший научный сотрудник лаборатории клинической онкогенетики, ФГБУ «Национальный медицинский исследовательский центр онкологии им. Н.Н. Блохина» МЗ РФ</p><p>SPIN-код: 1927-6110</p></bio><bio xml:lang="en"><p>24, Kashirskoye shosse, 115478-Moscow, Russia</p><p>MD, PhD, Senior Researcher, Laboratory of Clinical Oncogenetics, FSBI «N.N. Blokhin National Medical Research Center of Oncology» of the Ministry of Health of the Russian Federation</p></bio><email xlink:type="simple">fimargarita@yandex.ru</email><xref ref-type="aff" rid="aff-1"/></contrib><contrib contrib-type="author" corresp="yes"><name-alternatives><name name-style="eastern" xml:lang="ru"><surname>Анурова</surname><given-names>О. А.</given-names></name><name name-style="western" xml:lang="en"><surname>Anurova</surname><given-names>O. A.</given-names></name></name-alternatives><bio xml:lang="ru"><p>Россия, 115478, г. Москва, Каширское шоссе, 24</p><p>кандидат медицинских наук, ведущий научный сотрудник отдела патологоанатомической анатомии опухолей человека, ФГБУ «Национальный медицинский исследовательский центр онкологии им. Н.Н. Блохина» МЗ РФ</p><p>Author ID (РИНЦ): 167847</p></bio><bio xml:lang="en"><p>24, Kashirskoye shosse, 115478-Moscow, Russia</p><p>PhD, Leading Researcher, Human Pathological Anatomy and Tumor Department, FSBI «N.N. Blokhin National Medical Research Center of Oncology» of the Ministry of Health of the Russian Federation</p></bio><xref ref-type="aff" rid="aff-1"/></contrib><contrib contrib-type="author" corresp="yes"><name-alternatives><name name-style="eastern" xml:lang="ru"><surname>Назлиев</surname><given-names>П. В.</given-names></name><name name-style="western" xml:lang="en"><surname>Nazliev</surname><given-names>P. B.</given-names></name></name-alternatives><bio xml:lang="ru"><p>Россия, 115478, г. Москва, Каширское шоссе, 24</p><p>кандидат медицинских наук, старший научный сотрудник отделения научно-консультативныхамбулаторных методов диагностики и лечения ФГБУ «Национальный медицинский исследовательский центр онкологии им. Н.Н. Блохина» МЗ РФ</p><p>SPIN-код: 2955-1089</p></bio><bio xml:lang="en"><p>24, Kashirskoye shosse, 115478-Moscow, Russia</p><p>PhD, Senior Researcher, Department of scientific advisory outpatient diagnostic and treatment methods FSBI «N.N. Blokhin National Medical Research Center of Oncology» of the Ministry of Health of the Russian Federation</p></bio><xref ref-type="aff" rid="aff-1"/></contrib><contrib contrib-type="author" corresp="yes"><contrib-id contrib-id-type="orcid">https://orcid.org/0000-0002-5229-8203</contrib-id><name-alternatives><name name-style="eastern" xml:lang="ru"><surname>Стилиди</surname><given-names>И. С.</given-names></name><name name-style="western" xml:lang="en"><surname>Stilidi</surname><given-names>I. S.</given-names></name></name-alternatives><bio xml:lang="ru"><p>Россия, 115478, г. Москва, Каширское шоссе, 24</p><p>член-корреспондент РАН, доктор медицинских наук, профессор, директор ФГБУ «Национальный медицинский исследовательский центр онкологии им. Н.Н. Блохина» МЗ РФ </p><p>SPIN-код: 9622-7106. Author ID (Scopus): 6602949492 </p></bio><bio xml:lang="en"><p>24, Kashirskoye shosse, 115478-Moscow, Russia</p><p>MD, DSc, Corresponding Member of the Russian Academy of Sciences, professor, Head of FSBI «N.N. Blokhin National Medical Research Center of Oncology» of the Ministry of Health of the Russian Federation </p><p>Author ID (Scopus): 6602949492</p></bio><xref ref-type="aff" rid="aff-1"/></contrib></contrib-group><aff-alternatives id="aff-1"><aff xml:lang="ru"><institution>Национальный медицинский исследовательский центр имени Н.Н.Блохина Министерства здравоохранения Российской Федерации</institution><country>Россия</country></aff><aff xml:lang="en"><institution>N.N. Blokhin Medical Research Center of Oncology, Ministry of Health of the Russian Federation</institution><country>Russian Federation</country></aff></aff-alternatives><pub-date pub-type="collection"><year>2018</year></pub-date><pub-date pub-type="epub"><day>02</day><month>09</month><year>2018</year></pub-date><volume>17</volume><issue>4</issue><fpage>48</fpage><lpage>52</lpage><permissions><copyright-statement>Copyright &amp;#x00A9; Любченко Л.Н., Филиппова М.Г., Анурова О.А., Назлиев П.В., Стилиди И.С., 2018</copyright-statement><copyright-year>2018</copyright-year><copyright-holder xml:lang="ru">Любченко Л.Н., Филиппова М.Г., Анурова О.А., Назлиев П.В., Стилиди И.С.</copyright-holder><copyright-holder xml:lang="en">Lyubchenko L.N., Filippova M.G., Anurova O.A., Nazliev P.B., Stilidi I.S.</copyright-holder><license xml:lang="ru" license-type="creative-commons-attribution" xlink:href="https://creativecommons.org/licenses/by/4.0/" xlink:type="simple"><license-p>Данная работа распространяется под лицензией Creative Commons Attribution 4.0.</license-p></license><license xml:lang="en" license-type="creative-commons-attribution" xlink:href="https://creativecommons.org/licenses/by/4.0/" xlink:type="simple"><license-p>This work is licensed under a Creative Commons Attribution 4.0 License.</license-p></license></permissions><self-uri xlink:href="https://www.siboncoj.ru/jour/article/view/815">https://www.siboncoj.ru/jour/article/view/815</self-uri><abstract><p>Для пациентов с выявленной наследственной мутацией E-cadherin-1 (CDH1) терапией выбора является  профилактическая гастрэктомия для устранения риска развития рака диффузного типа. Представленный  клинический пример описывает редкий случай наследственного рака желудка диффузного типа (HDGC),  ассоциированного с мутацией в гене CDH1, впервые описанного в России. В 2013 году 28-летняя пациентка  была поставлена на учет в клинической онкогенетической лаборатории с семейной историей рака желудка.  Молекулярно-генетический анализ выявил наследственную мутацию в гене CDH1. Риск заболеть раком в  течение жизни у пациентов с выявленной мутацией превышает 80 %. Гистологическое исследование  биопсийного образца, полученного при эндоскопии, обнаружило изолированные мелко-круглые клетки в lamina  propria. В отделе абдоминальной онкологии пациентке было проведено хирургическое вмешательство:  лимфодиссекция в объеме D2 с сохранением селезенки и тотальная гастрэктомия с Roux-en-Y реконструкцией с  формированием тощекишечного резервуара.</p></abstract><trans-abstract xml:lang="en"><p>For patients with an identified germline E-cadherin-1 (CDH1) mutation, prophylactic gastrectomy is the treatment of choice to eliminate the high risk of developing diffuse gastric  cancer. The case report describes a rare case of hereditary diffuse gastric cancer (HDGC)  associated with CDH1 gene mutation, which is reported in the Russian population for the first  time. In 2013, a 28-year- old woman was referred to Clinical Oncogenetics Laboratory with a  family history of gastric cancer. Molecular genetic analysis revealed CDH1 gene mutation. The  lifetime risk of cancer in mutation positive members is more than 80. Histological examination  of gastric biopsy specimens obtained during endoscopy revealed isolated signet ring cells in the  lamina propria. Spleenpreserving D2-lymphodissection and total gastrectomy with Roux-en-Y  reconstruction with a jejunal reservoir formation were performed at the Abdominal Oncology Surgery Department.</p></trans-abstract><kwd-group xml:lang="ru"><kwd>наследственный рак желудка диффузного типа (HDGC)</kwd><kwd>ген CDH1</kwd><kwd>гастрэктомия</kwd><kwd>молекулярно-генетическая диагностика</kwd></kwd-group><kwd-group xml:lang="en"><kwd>hereditary diffuse gastric cancer (HDGC)</kwd><kwd>CDH1 gene</kwd><kwd>gastrectomy</kwd><kwd>molecular genetic diagnostics</kwd></kwd-group></article-meta></front><back><ref-list><title>References</title><ref id="cit1"><label>1</label><citation-alternatives><mixed-citation xml:lang="ru">Le Vecchia C., Negri E., Franceeschi S., Gentile A. Family history and risk of stomach and colorectal canser. Canser. 1992; 70: 50–58.</mixed-citation><mixed-citation xml:lang="en">Le Vecchia C., Negri E., Franceeschi S., Gentile A. Family history and risk of stomach and colorectal canser. Canser. 1992; 70: 50–58.</mixed-citation></citation-alternatives></ref><ref id="cit2"><label>2</label><citation-alternatives><mixed-citation xml:lang="ru">Caldas C., Carneiro F., Lynch H.T., Yokota J., Wiesner G.L., Powell S.M., Lewis F.R., Huntsman D.G., Pharoah P.D., Jankowski J.A., MacLeod P., Vogelsang H., Keller G., Park K.G., Richards F.M., Maher E.R., Gayther S.A., Oliveira C., Grehan N., Wight D., Seruca R., Roviello F., Ponder B.A., Jackson C.E. Family gastric canser: overview and guidelines for management. J Med Genet. 1999; 36: 873–80.</mixed-citation><mixed-citation xml:lang="en">Caldas C., Carneiro F., Lynch H.T., Yokota J., Wiesner G.L., Powell S.M., Lewis F.R., Huntsman D.G., Pharoah P.D., Jankowski J.A., MacLeod P., Vogelsang H., Keller G., Park K.G., Richards F.M., Maher E.R., Gayther S.A., Oliveira C., Grehan N., Wight D., Seruca R., Roviello F., Ponder B.A., Jackson C.E. Family gastric canser: overview and guidelines for management. J Med Genet. 1999; 36: 873–80.</mixed-citation></citation-alternatives></ref><ref id="cit3"><label>3</label><citation-alternatives><mixed-citation xml:lang="ru">Fitzgerald R.C., Hardwick R., Huntsman D., Carneiro F., Guilford P., Blair V., Chung D.C., Norton J., Ragunath K., Van Krieken J.H., Dwerryhouse S., Caldas C.; International Gastric Cancer Linkage Consortium. Hereditary diffuse gastric cancer: updated consensus guidelines for clinical management and directions for future research. J Med Genet. 2010 Jul; 47(7): 436–44. doi: 10.1136/jmg.2009.074237.</mixed-citation><mixed-citation xml:lang="en">Fitzgerald R.C., Hardwick R., Huntsman D., Carneiro F., Guilford P., Blair V., Chung D.C., Norton J., Ragunath K., Van Krieken J.H., Dwerryhouse S., Caldas C.; International Gastric Cancer Linkage Consortium. Hereditary diffuse gastric cancer: updated consensus guidelines for clinical management and directions for future research. J Med Genet. 2010 Jul; 47(7): 436–44. doi: 10.1136/jmg.2009.074237.</mixed-citation></citation-alternatives></ref><ref id="cit4"><label>4</label><citation-alternatives><mixed-citation xml:lang="ru">Guilford P., Hopkins J., Harraway J., McLeod M., McLeod N., Harawira P., Taite H., Scoular R., Miller A., Reeve A.E. E-cadgerin germline mutations in familiar gastric cancer. Nature. 1998; 392: 402‑405.</mixed-citation><mixed-citation xml:lang="en">Guilford P., Hopkins J., Harraway J., McLeod M., McLeod N., Harawira P., Taite H., Scoular R., Miller A., Reeve A.E. E-cadgerin germline mutations in familiar gastric cancer. Nature. 1998; 392: 402‑405.</mixed-citation></citation-alternatives></ref><ref id="cit5"><label>5</label><citation-alternatives><mixed-citation xml:lang="ru">Corso G., Marrelli D., Pascale V., Vindigni C., Roviello F. Frequency of CDH1 germline mutations in gastric carcinoma coming from high- and lo-risk areas: metanalysis and systematic rewiew of the literature. BMC Canser. 2012; 2: 8.</mixed-citation><mixed-citation xml:lang="en">Corso G., Marrelli D., Pascale V., Vindigni C., Roviello F. Frequency of CDH1 germline mutations in gastric carcinoma coming from high- and lo-risk areas: metanalysis and systematic rewiew of the literature. BMC Canser. 2012; 2: 8.</mixed-citation></citation-alternatives></ref><ref id="cit6"><label>6</label><citation-alternatives><mixed-citation xml:lang="ru">Suriano G., Yew S., Ferreira P., Senz J., Kaurah P., Ford J.M., Longacre T.A., Norton J.A., Chun N., Young S., Oliveira M.J., Macgillivray B., Rao A., Sears D., Jackson C.E., Boyd J., Yee C., Deters C., Pai G.S., Hammond L.S., McGivern B.J., Medgyesy D.,</mixed-citation><mixed-citation xml:lang="en">Suriano G., Yew S., Ferreira P., Senz J., Kaurah P., Ford J.M., Longacre T.A., Norton J.A., Chun N., Young S., Oliveira M.J., Macgillivray B., Rao A., Sears D., Jackson C.E., Boyd J., Yee C., Deters C., Pai G.S., Hammond L.S., McGivern B.J., Medgyesy D.,</mixed-citation></citation-alternatives></ref><ref id="cit7"><label>7</label><citation-alternatives><mixed-citation xml:lang="ru">Sartz D., Arun B., Oelschlager B.K., Upton M.P., Neufeld-Kaiser W., Silva O.E., Donenberg T.R., Kooby D.A., Sharma S., Jonsson B.A., Gronberg H., Gallinger S., Seruca R., Lynch H., Huntsman D.G. Characterization of a recurrent germ line mutation of the Ecadherin gene: implications for genetic testing and clinical management. Clin Cancer Res 2005; 11: 5401–9. doi: 10.1158/1078-0432.CCR-05-0247.</mixed-citation><mixed-citation xml:lang="en">Sartz D., Arun B., Oelschlager B.K., Upton M.P., Neufeld-Kaiser W., Silva O.E., Donenberg T.R., Kooby D.A., Sharma S., Jonsson B.A., Gronberg H., Gallinger S., Seruca R., Lynch H., Huntsman D.G. Characterization of a recurrent germ line mutation of the Ecadherin gene: implications for genetic testing and clinical management. Clin Cancer Res 2005; 11: 5401–9. doi: 10.1158/1078-0432.CCR-05-0247.</mixed-citation></citation-alternatives></ref><ref id="cit8"><label>8</label><citation-alternatives><mixed-citation xml:lang="ru">Kaurah P., MacMillan A., Boyd N., Senz J., De Luca A., Chun N., Suriano G., Zaor S., Van Manen L., Gilpin C., Nikkel S., Connolly-Wilson M., Weissman S., Rubinstein W.S., Sebold C., Greenstein R., Stroop J., Yim D., Panzini B., McKinnon W., Greenblatt M., Wirtzfeld D., Fontaine D., Coit D., Yoon S., Chung D., Lauwers G., Pizzuti A., Vaccaro C., Redal M.A., Oliveira C., Tischkowitz M., Olschwang S., Gallinger S., Lynch H., Green J., Ford J., Pharoah P., Fernandez B., Huntsman D. Founder and recurrent CDH1 mutations in families with hereditary diffuse gastric cancer. JAMA 2007; 297: 2360–72. doi: 10.1001/jama.297.21.2360.</mixed-citation><mixed-citation xml:lang="en">Kaurah P., MacMillan A., Boyd N., Senz J., De Luca A., Chun N., Suriano G., Zaor S., Van Manen L., Gilpin C., Nikkel S., Connolly-Wilson M., Weissman S., Rubinstein W.S., Sebold C., Greenstein R., Stroop J., Yim D., Panzini B., McKinnon W., Greenblatt M., Wirtzfeld D., Fontaine D., Coit D., Yoon S., Chung D., Lauwers G., Pizzuti A., Vaccaro C., Redal M.A., Oliveira C., Tischkowitz M., Olschwang S., Gallinger S., Lynch H., Green J., Ford J., Pharoah P., Fernandez B., Huntsman D. Founder and recurrent CDH1 mutations in families with hereditary diffuse gastric cancer. JAMA 2007; 297: 2360–72. doi: 10.1001/jama.297.21.2360.</mixed-citation></citation-alternatives></ref><ref id="cit9"><label>9</label><citation-alternatives><mixed-citation xml:lang="ru">Norton J.A., Ham C.M., Jacques Van Dam R., Longacre T.A., Huntsman D.G., Chun N., Ford J.M. CDH1 truncating mutations in the Ecadherin gene: an indication for total gastrectomy to treat hereditary diffuse gastric cancer. Ann Surg 2007; 245: 873–9.</mixed-citation><mixed-citation xml:lang="en">Norton J.A., Ham C.M., Jacques Van Dam R., Longacre T.A., Huntsman D.G., Chun N., Ford J.M. CDH1 truncating mutations in the Ecadherin gene: an indication for total gastrectomy to treat hereditary diffuse gastric cancer. Ann Surg 2007; 245: 873–9.</mixed-citation></citation-alternatives></ref><ref id="cit10"><label>10</label><citation-alternatives><mixed-citation xml:lang="ru">Jonsson B.A., Bergh A., Stattin P., Emmanuelsson M., Gronberg H. Germline mutations in E-cadherin do not explain association of hereditary prostate cancer, gastric cancer and breast cancer. Int J Cancer 2002; 98: 838–43.</mixed-citation><mixed-citation xml:lang="en">Jonsson B.A., Bergh A., Stattin P., Emmanuelsson M., Gronberg H. Germline mutations in E-cadherin do not explain association of hereditary prostate cancer, gastric cancer and breast cancer. Int J Cancer 2002; 98: 838–43.</mixed-citation></citation-alternatives></ref><ref id="cit11"><label>11</label><citation-alternatives><mixed-citation xml:lang="ru">Suriano G., Oliveira C., Ferreira P., Machado J.C., Bordin M.C., De Wever O., Bruyneel E.A., Moguilevsky N., Grehan N., Porter T.R., Richards F.M., Hruban R.H., Roviello F., Huntsman D., Mareel M., Carneiro F., Caldas C., Seruca R. Identification of CDH1 germline missense mutations associated with functional inactivation of the E- cadherin protein in young gastric cancer probands. Hum Mol Genet 2003; 12: 575–82.</mixed-citation><mixed-citation xml:lang="en">Suriano G., Oliveira C., Ferreira P., Machado J.C., Bordin M.C., De Wever O., Bruyneel E.A., Moguilevsky N., Grehan N., Porter T.R., Richards F.M., Hruban R.H., Roviello F., Huntsman D., Mareel M., Carneiro F., Caldas C., Seruca R. Identification of CDH1 germline missense mutations associated with functional inactivation of the E- cadherin protein in young gastric cancer probands. Hum Mol Genet 2003; 12: 575–82.</mixed-citation></citation-alternatives></ref><ref id="cit12"><label>12</label><citation-alternatives><mixed-citation xml:lang="ru">More H., Humar B., Weber W., Ward R., Christian A., Lintott C., Graziano F., Ruzzo A.M., Acosta E., Boman B., Harlan M., Ferreira P., Seruca R., Suriano G., Guilford P. Identification of seven novel germline mutations in the human E-cadherin (CDH1) gene. Hum Mutat 2007; 28: 203–11. doi: 10.1002/humu.9473.</mixed-citation><mixed-citation xml:lang="en">More H., Humar B., Weber W., Ward R., Christian A., Lintott C., Graziano F., Ruzzo A.M., Acosta E., Boman B., Harlan M., Ferreira P., Seruca R., Suriano G., Guilford P. Identification of seven novel germline mutations in the human E-cadherin (CDH1) gene. Hum Mutat 2007; 28: 203–11. doi: 10.1002/humu.9473.</mixed-citation></citation-alternatives></ref><ref id="cit13"><label>13</label><citation-alternatives><mixed-citation xml:lang="ru">Frebourg T., Oliveira C., Hochain P., Karam R., Manouvrier S., Graziadio C., Vekemans M., Hartmann A., Baert-Desurmont S., Alexandre C., Lejeune Dumoulin S., Marroni C., Martin C., Castedo S., Lovett M., Winston J., Machado J.C., Attié T., Jabs E.W., Cai J., Pellerin P., Triboulet J.P., Scotte M., Le Pessot F., Hedouin A., Carneiro F., Blayau M., Seruca R. Cleft lip/palate and CDH1/E-cadherin mutations in families with hereditary diffuse gastric cancer. J Med Genet 2006; 43: 138–42. doi: 10.1136/jmg.2005.031385.</mixed-citation><mixed-citation xml:lang="en">Frebourg T., Oliveira C., Hochain P., Karam R., Manouvrier S., Graziadio C., Vekemans M., Hartmann A., Baert-Desurmont S., Alexandre C., Lejeune Dumoulin S., Marroni C., Martin C., Castedo S., Lovett M., Winston J., Machado J.C., Attié T., Jabs E.W., Cai J., Pellerin P., Triboulet J.P., Scotte M., Le Pessot F., Hedouin A., Carneiro F., Blayau M., Seruca R. Cleft lip/palate and CDH1/E-cadherin mutations in families with hereditary diffuse gastric cancer. J Med Genet 2006; 43: 138–42. doi: 10.1136/jmg.2005.031385.</mixed-citation></citation-alternatives></ref><ref id="cit14"><label>14</label><citation-alternatives><mixed-citation xml:lang="ru">Oliveira C., Senz J., Kaurah P., Pinheiro H., Sanges R., Haegert A., Corso G., Schouten J., Fitzgerald R., Vogelsang H., Keller G., Dwerryhouse S., Grimmer D., Chin S.F., Yang H.K., Jackson C.E., Seruca R., Roviello F., Stupka E., Caldas C., Huntsman D. Germline CDH1 deletions in hereditary diffuse gastric cancer families. Hum Mol Genet. 2009 May 1; 18(9): 1545–55. doi: 10.1093/hmg/ddp046.</mixed-citation><mixed-citation xml:lang="en">Oliveira C., Senz J., Kaurah P., Pinheiro H., Sanges R., Haegert A., Corso G., Schouten J., Fitzgerald R., Vogelsang H., Keller G., Dwerryhouse S., Grimmer D., Chin S.F., Yang H.K., Jackson C.E., Seruca R., Roviello F., Stupka E., Caldas C., Huntsman D. Germline CDH1 deletions in hereditary diffuse gastric cancer families. Hum Mol Genet. 2009 May 1; 18(9): 1545–55. doi: 10.1093/hmg/ddp046.</mixed-citation></citation-alternatives></ref><ref id="cit15"><label>15</label><citation-alternatives><mixed-citation xml:lang="ru">Humar B., Graziano F., Cascinu S., Catalano V., Ruzzo A.M., Magnani M., Toro T., Burchill T., Futschik M.E., Merriman T., Guilford P. Association of CDH1 haplotypes with susceptibility to sporadic diffuse gastric cancer. Oncogene 2002; 21: 8192–5. doi: 10.1038/sj.onc.1205921.</mixed-citation><mixed-citation xml:lang="en">Humar B., Graziano F., Cascinu S., Catalano V., Ruzzo A.M., Magnani M., Toro T., Burchill T., Futschik M.E., Merriman T., Guilford P. Association of CDH1 haplotypes with susceptibility to sporadic diffuse gastric cancer. Oncogene 2002; 21: 8192–5. doi: 10.1038/sj.onc.1205921.</mixed-citation></citation-alternatives></ref><ref id="cit16"><label>16</label><citation-alternatives><mixed-citation xml:lang="ru">Nasri S., More H., Graziano F., Ruzzo A., Wilson E., Dunbier A., McKinney C., Merriman T., Guilford P., Magnani M., Humar B. A novel diffuse gastric cancer susceptibility variant in E-cadherin (CDH1) intron 2: a case control study in an Italian population. BMC Cancer. 2008 May 15; 8: 138. doi: 10.1186/1471-2407-8-138.</mixed-citation><mixed-citation xml:lang="en">Nasri S., More H., Graziano F., Ruzzo A., Wilson E., Dunbier A., McKinney C., Merriman T., Guilford P., Magnani M., Humar B. A novel diffuse gastric cancer susceptibility variant in E-cadherin (CDH1) intron 2: a case control study in an Italian population. BMC Cancer. 2008 May 15; 8: 138. doi: 10.1186/1471-2407-8-138.</mixed-citation></citation-alternatives></ref><ref id="cit17"><label>17</label><citation-alternatives><mixed-citation xml:lang="ru">Schrader K.A., Masciari S., Boyd N., Wiyrick S., Kaurah P., Senz J., Burke W., Lynch H.T., Garber J.E., Huntsman D.G. Hereditary diffuse gastric cancer: association with lobular breast cancer. Fam Cancer. 2008; 7: 73–82.</mixed-citation><mixed-citation xml:lang="en">Schrader K.A., Masciari S., Boyd N., Wiyrick S., Kaurah P., Senz J., Burke W., Lynch H.T., Garber J.E., Huntsman D.G. Hereditary diffuse gastric cancer: association with lobular breast cancer. Fam Cancer. 2008; 7: 73–82.</mixed-citation></citation-alternatives></ref><ref id="cit18"><label>18</label><citation-alternatives><mixed-citation xml:lang="ru">Berx G., Becker K-F., Hofler H., van Roy F. Mutations of the human E-cadherin (CDH1) gene. Hum Mutat 1998; 12: 226–37.</mixed-citation><mixed-citation xml:lang="en">Berx G., Becker K-F., Hofler H., van Roy F. Mutations of the human E-cadherin (CDH1) gene. Hum Mutat 1998; 12: 226–37.</mixed-citation></citation-alternatives></ref><ref id="cit19"><label>19</label><citation-alternatives><mixed-citation xml:lang="ru">Becker K.F., Reich U., Schott C., Becker I., Berx G., van Roy F., Höfler H. Identification of 11 novel tumor-associated E-cadherin mutations. Hum Mutat 1998; 13: 171–5. doi: 10.1002/(SICI)1098-1004-(1999)13:2&lt;171::AID-HUMU14&gt;3.0.CO;2-Z.</mixed-citation><mixed-citation xml:lang="en">Becker K.F., Reich U., Schott C., Becker I., Berx G., van Roy F., Höfler H. Identification of 11 novel tumor-associated E-cadherin mutations. Hum Mutat 1998; 13: 171–5. doi: 10.1002/(SICI)1098-1004-(1999)13:2&lt;171::AID-HUMU14&gt;3.0.CO;2-Z.</mixed-citation></citation-alternatives></ref><ref id="cit20"><label>20</label><citation-alternatives><mixed-citation xml:lang="ru">Pharoah P.D., Guilford P., Caldas C. Incidence of gastric cancer and breast cancer in CDH1 (E-cadgerin) mutation carries from hereditary diffuse gastric cancer families. Gastroenterology. 2001; 121(6): 1348–53.</mixed-citation><mixed-citation xml:lang="en">Pharoah P.D., Guilford P., Caldas C. Incidence of gastric cancer and breast cancer in CDH1 (E-cadgerin) mutation carries from hereditary diffuse gastric cancer families. Gastroenterology. 2001; 121(6): 1348–53.</mixed-citation></citation-alternatives></ref><ref id="cit21"><label>21</label><citation-alternatives><mixed-citation xml:lang="ru">Tsukanov A.C., Shelygin Iu.A., Kashnikov V.N., Frolov S.A., Liubchenko L.N., Shubin V.P., Karpukhin A.V., Muzaffarova T.A., Pospekhova N.I. Molecular genetic study of hereditary predisposition to diffuse gastric cancer in Russian patients. Vopr Onkol. 2013; 59(5): 580‑4.</mixed-citation><mixed-citation xml:lang="en">Tsukanov A.C., Shelygin Iu.A., Kashnikov V.N., Frolov S.A., Liubchenko L.N., Shubin V.P., Karpukhin A.V., Muzaffarova T.A., Pospekhova N.I. Molecular genetic study of hereditary predisposition to diffuse gastric cancer in Russian patients. Vopr Onkol. 2013; 59(5): 580‑4.</mixed-citation></citation-alternatives></ref><ref id="cit22"><label>22</label><citation-alternatives><mixed-citation xml:lang="ru">Seevaratnam R., Coburn N., Cardoso R., Dixon M., Bocicariu A., Helyer L. А systematic review of the indications for genetic testing and prophylactic gastrectomy among patients with hereditary diffuse gastric canser. Gastric Canser. 2012; 15(1): 153–163.</mixed-citation><mixed-citation xml:lang="en">Seevaratnam R., Coburn N., Cardoso R., Dixon M., Bocicariu A., Helyer L. А systematic review of the indications for genetic testing and prophylactic gastrectomy among patients with hereditary diffuse gastric canser. Gastric Canser. 2012; 15(1): 153–163.</mixed-citation></citation-alternatives></ref><ref id="cit23"><label>23</label><citation-alternatives><mixed-citation xml:lang="ru">Strong V.E., Gholami S., Shah M.A., Tang L.H., Janjigian Y.Y., Schattner M., Selby L.V., Yoon S.S., Salo-Mullen E., Stadler Z.K., Kelsen D., Brennan M.F., Coit D.G. Total Gastrectomy for Hereditary Diffuse Gastric Cancer at a Single Center: Postsurgical Outcomes in 41 Patients. Ann Surg. 2017 Dec; 266(6): 1006–1012. doi: 10.1097/SLA.0000000000002030.</mixed-citation><mixed-citation xml:lang="en">Strong V.E., Gholami S., Shah M.A., Tang L.H., Janjigian Y.Y., Schattner M., Selby L.V., Yoon S.S., Salo-Mullen E., Stadler Z.K., Kelsen D., Brennan M.F., Coit D.G. Total Gastrectomy for Hereditary Diffuse Gastric Cancer at a Single Center: Postsurgical Outcomes in 41 Patients. Ann Surg. 2017 Dec; 266(6): 1006–1012. doi: 10.1097/SLA.0000000000002030.</mixed-citation></citation-alternatives></ref><ref id="cit24"><label>24</label><citation-alternatives><mixed-citation xml:lang="ru">Haverkamp L., van der Sluis P.C., Ausems M.G., van der Horst S., Siersema P.D., Ruurda J.P., Offerhaus G.J., van Hillegersberg R. Prophylactic Laparoscopic Total Gastrectomy with Jejunal Pouch Reconstruction in Patients Carrying a CDH1 Germline Mutation. J Gastrointest Surg. 2015 Dec; 19(12): 2120–5. doi: 10.1007/s11605-015-2963-4.</mixed-citation><mixed-citation xml:lang="en">Haverkamp L., van der Sluis P.C., Ausems M.G., van der Horst S., Siersema P.D., Ruurda J.P., Offerhaus G.J., van Hillegersberg R. Prophylactic Laparoscopic Total Gastrectomy with Jejunal Pouch Reconstruction in Patients Carrying a CDH1 Germline Mutation. J Gastrointest Surg. 2015 Dec; 19(12): 2120–5. doi: 10.1007/s11605-015-2963-4.</mixed-citation></citation-alternatives></ref><ref id="cit25"><label>25</label><citation-alternatives><mixed-citation xml:lang="ru">Haverkamp L., Weijs T.J., van der Sluis P.C., van der Tweel I., Ruurda J.P., van Hillegersberg R. Laparoscopic total gastrectomy versus open total gastrectomy for cancer: a systematic review and metaanalysis. Surg Endosc. 2013 May; 27(5): 1509–20. doi: 10.1007/s00464-012-2661-1.</mixed-citation><mixed-citation xml:lang="en">Haverkamp L., Weijs T.J., van der Sluis P.C., van der Tweel I., Ruurda J.P., van Hillegersberg R. Laparoscopic total gastrectomy versus open total gastrectomy for cancer: a systematic review and metaanalysis. Surg Endosc. 2013 May; 27(5): 1509–20. doi: 10.1007/s00464-012-2661-1.</mixed-citation></citation-alternatives></ref><ref id="cit26"><label>26</label><citation-alternatives><mixed-citation xml:lang="ru">Chen Y., Kingham K., Ford J.M., Rosing J., Van Dam J., Jeffrey R.B., Longacre T.A., Chun N., Kurian A., Norton J.A. A prospective Study of Total Gastrectomy for CDH1-Positive Hereditary Diffuse Gastric Cancer. Ann Surg Oncol. 2011 Sep; 18(9): 2594–8. doi: 10.1245/s10434-011-1648-9.</mixed-citation><mixed-citation xml:lang="en">Chen Y., Kingham K., Ford J.M., Rosing J., Van Dam J., Jeffrey R.B., Longacre T.A., Chun N., Kurian A., Norton J.A. A prospective Study of Total Gastrectomy for CDH1-Positive Hereditary Diffuse Gastric Cancer. Ann Surg Oncol. 2011 Sep; 18(9): 2594–8. doi: 10.1245/s10434-011-1648-9.</mixed-citation></citation-alternatives></ref><ref id="cit27"><label>27</label><citation-alternatives><mixed-citation xml:lang="ru">Blair V., Shaw D., Martin H., Kerr D., Arnold J., Harawira P., MacLeod M., Parry S., Charlton A., Findlay M., Cox B., Guilford P. Hereditary diffuse gastric cancer: diagnosis and management. Cli Gastroenterol Hepatol. 2006; 4: 262–75.</mixed-citation><mixed-citation xml:lang="en">Blair V., Shaw D., Martin H., Kerr D., Arnold J., Harawira P., MacLeod M., Parry S., Charlton A., Findlay M., Cox B., Guilford P. Hereditary diffuse gastric cancer: diagnosis and management. Cli Gastroenterol Hepatol. 2006; 4: 262–75.</mixed-citation></citation-alternatives></ref></ref-list><fn-group><fn fn-type="conflict"><p>The authors declare that there are no conflicts of interest present.</p></fn></fn-group></back></article>
