Case Series of 11 <i>CDH1</i> Families (47 Carriers) Including Incidental Findings, Signet Ring Cell Colon Cancer and Review of the Literature
Germline pathogenic variants in E-cadherin (<i>CDH1</i>) confer high risk of developing lobular breast cancer and diffuse gastric cancer (DGC). The cumulative risk of DGC in <i>CDH1</i> carriers has been recently reassessed (from 40–83% by age 80 to 25–42%) and varies accordi...
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| Format: | Article |
| Language: | English |
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MDPI AG
2023-08-01
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| Series: | Genes |
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| Online Access: | https://www.mdpi.com/2073-4425/14/9/1677 |
| _version_ | 1797579965898686464 |
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| author | Mathis Lepage Nancy Uhrhammer Maud Privat Flora Ponelle-Chachuat Myriam Kossai Julien Scanzi Zangbéwendé Guy Ouedraogo Mathilde Gay-Bellile Yannick Bidet Mathias Cavaillé |
| author_facet | Mathis Lepage Nancy Uhrhammer Maud Privat Flora Ponelle-Chachuat Myriam Kossai Julien Scanzi Zangbéwendé Guy Ouedraogo Mathilde Gay-Bellile Yannick Bidet Mathias Cavaillé |
| author_sort | Mathis Lepage |
| collection | DOAJ |
| description | Germline pathogenic variants in E-cadherin (<i>CDH1</i>) confer high risk of developing lobular breast cancer and diffuse gastric cancer (DGC). The cumulative risk of DGC in <i>CDH1</i> carriers has been recently reassessed (from 40–83% by age 80 to 25–42%) and varies according to the presence and number of gastric cancers in the family. As there is no accurate estimate of the risk of gastric cancer in families without DGC, the International Gastric Cancer Linkage Consortium recommendation is not straightforward: prophylactic gastrectomy or endoscopic surveillance should be proposed for these families. The inclusion of <i>CDH1</i> in constitutional gene panels for hereditary breast and ovarian cancer and for gastrointestinal cancers, recommended by the French Genetic and Cancer Consortium in 2018 and 2020, leads to the identification of families with lobular cancer without DGC but also to incidental findings of pathogenic variants. Management of <i>CDH1</i> carriers in case of incidental findings is complex and causes dilemmas for both patients and providers. We report eleven families (47 <i>CDH1</i> carriers) from our oncogenetic department specialized in breast and ovarian cancer, including four incidental findings. We confirmed that six families did not have diffuse gastric cancer in their medical records. We discuss the management of the risk of diffuse gastric cancer in Hereditary Lobular Breast Cancer (HLBC) through a family of 11 <i>CDH1</i> carriers where foci were identified in endoscopic surveillance. We also report a new colon signet ring cancer case in a <i>CDH1</i> carrier, a rare aggressive cancer included in <i>CDH1</i>-related malignancies. |
| first_indexed | 2024-03-10T22:43:38Z |
| format | Article |
| id | doaj.art-a704a499379443009caf7ce4fc772878 |
| institution | Directory Open Access Journal |
| issn | 2073-4425 |
| language | English |
| last_indexed | 2024-03-10T22:43:38Z |
| publishDate | 2023-08-01 |
| publisher | MDPI AG |
| record_format | Article |
| series | Genes |
| spelling | doaj.art-a704a499379443009caf7ce4fc7728782023-11-19T10:52:08ZengMDPI AGGenes2073-44252023-08-01149167710.3390/genes14091677Case Series of 11 <i>CDH1</i> Families (47 Carriers) Including Incidental Findings, Signet Ring Cell Colon Cancer and Review of the LiteratureMathis Lepage0Nancy Uhrhammer1Maud Privat2Flora Ponelle-Chachuat3Myriam Kossai4Julien Scanzi5Zangbéwendé Guy Ouedraogo6Mathilde Gay-Bellile7Yannick Bidet8Mathias Cavaillé9Département d’Oncogénétique, Centre Jean Perrin, 63011 Clermont-Ferrand, FranceDépartement d’Oncogénétique, Centre Jean Perrin, 63011 Clermont-Ferrand, FranceDépartement d’Oncogénétique, Centre Jean Perrin, 63011 Clermont-Ferrand, FranceDépartement d’Oncogénétique, Centre Jean Perrin, 63011 Clermont-Ferrand, FranceINSERM, U1240 Imagerie Moléculaire et Stratégies Théranostiques, Université Clermont Auvergne, 63000 Clermont-Ferrand, FranceCentre Hospitalier de Thiers, 63300 Thiers, FranceService de Biochimie et Génétique Moléculaire, CHU Clermont-Ferrand, 63000 Clermont-Ferrand, FranceDépartement d’Oncogénétique, Centre Jean Perrin, 63011 Clermont-Ferrand, FranceINSERM, U1240 Imagerie Moléculaire et Stratégies Théranostiques, Université Clermont Auvergne, 63000 Clermont-Ferrand, FranceDépartement d’Oncogénétique, Centre Jean Perrin, 63011 Clermont-Ferrand, FranceGermline pathogenic variants in E-cadherin (<i>CDH1</i>) confer high risk of developing lobular breast cancer and diffuse gastric cancer (DGC). The cumulative risk of DGC in <i>CDH1</i> carriers has been recently reassessed (from 40–83% by age 80 to 25–42%) and varies according to the presence and number of gastric cancers in the family. As there is no accurate estimate of the risk of gastric cancer in families without DGC, the International Gastric Cancer Linkage Consortium recommendation is not straightforward: prophylactic gastrectomy or endoscopic surveillance should be proposed for these families. The inclusion of <i>CDH1</i> in constitutional gene panels for hereditary breast and ovarian cancer and for gastrointestinal cancers, recommended by the French Genetic and Cancer Consortium in 2018 and 2020, leads to the identification of families with lobular cancer without DGC but also to incidental findings of pathogenic variants. Management of <i>CDH1</i> carriers in case of incidental findings is complex and causes dilemmas for both patients and providers. We report eleven families (47 <i>CDH1</i> carriers) from our oncogenetic department specialized in breast and ovarian cancer, including four incidental findings. We confirmed that six families did not have diffuse gastric cancer in their medical records. We discuss the management of the risk of diffuse gastric cancer in Hereditary Lobular Breast Cancer (HLBC) through a family of 11 <i>CDH1</i> carriers where foci were identified in endoscopic surveillance. We also report a new colon signet ring cancer case in a <i>CDH1</i> carrier, a rare aggressive cancer included in <i>CDH1</i>-related malignancies.https://www.mdpi.com/2073-4425/14/9/1677HDGCsignet ring cell carcinoma<i>CDH1</i>E-cadherinincidental findingendoscopic finding |
| spellingShingle | Mathis Lepage Nancy Uhrhammer Maud Privat Flora Ponelle-Chachuat Myriam Kossai Julien Scanzi Zangbéwendé Guy Ouedraogo Mathilde Gay-Bellile Yannick Bidet Mathias Cavaillé Case Series of 11 <i>CDH1</i> Families (47 Carriers) Including Incidental Findings, Signet Ring Cell Colon Cancer and Review of the Literature Genes HDGC signet ring cell carcinoma <i>CDH1</i> E-cadherin incidental finding endoscopic finding |
| title | Case Series of 11 <i>CDH1</i> Families (47 Carriers) Including Incidental Findings, Signet Ring Cell Colon Cancer and Review of the Literature |
| title_full | Case Series of 11 <i>CDH1</i> Families (47 Carriers) Including Incidental Findings, Signet Ring Cell Colon Cancer and Review of the Literature |
| title_fullStr | Case Series of 11 <i>CDH1</i> Families (47 Carriers) Including Incidental Findings, Signet Ring Cell Colon Cancer and Review of the Literature |
| title_full_unstemmed | Case Series of 11 <i>CDH1</i> Families (47 Carriers) Including Incidental Findings, Signet Ring Cell Colon Cancer and Review of the Literature |
| title_short | Case Series of 11 <i>CDH1</i> Families (47 Carriers) Including Incidental Findings, Signet Ring Cell Colon Cancer and Review of the Literature |
| title_sort | case series of 11 i cdh1 i families 47 carriers including incidental findings signet ring cell colon cancer and review of the literature |
| topic | HDGC signet ring cell carcinoma <i>CDH1</i> E-cadherin incidental finding endoscopic finding |
| url | https://www.mdpi.com/2073-4425/14/9/1677 |
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