Hereditary lobular breast cancer with an emphasis on E-cadherin genetic defect

Giovanni Corso, Joana Figueiredo, Carlo La Vecchia, Paolo Veronesi, Gabriella Pravettoni, Debora Macis, Rachid Karam, Roberto Lo Gullo, Elena Provenzano, Antonio Toesca, Ketti Mazzocco, Fátima Carneiro, Raquel Seruca, Soraia Melo, Fernando Schmitt, Franco Roviello, Alessandra Margherita De Scalzi, Mattia Intra, Irene Feroce, Elisa De CamilliMaria Grazia Villardita, Chiara Trentin, Francesca De Lorenzi, Bernardo Bonanni, Viviana Galimberti

Research output: Contribution to journalReview article

6 Citations (Scopus)

Abstract

Recent studies have reported germline CDH1 mutations in cases of lobular breast cancer (LBC) not associated with the classical hereditary diffuse gastric cancer syndrome. A multidisciplinary workgroup discussed genetic susceptibility, pathophysiology and clinical management of hereditary LBC (HLBC). The team has established the clinical criteria for CDH1 screening and results' interpretation, and created consensus guidelines regarding genetic counselling, breast surveillance and imaging techniques, clinicopathological findings, psychological and decisional support, as well as prophylactic surgery and plastic reconstruction. Based on a review of current evidence for the identification of HLBC cases/families, CDH1 genetic testing is recommended in patients fulfilling the following criteria: (A) bilateral LBC with or without family history of LBC, with age at onset <50 years, and (B) unilateral LBC with family history of LBC, with age at onset <45 years. In CDH1 asymptomatic mutant carriers, breast surveillance with clinical examination, yearly mammography, contrast-enhanced breast MRI and breast ultrasonography (US) with 6-month interval between the US and the MRI should be implemented as a first approach. In selected cases with personal history, family history of LBC and CDH1 mutations, prophylactic mastectomy could be discussed with an integrative group of clinical experts. Psychodecisional support also plays a pivotal role in the management of individuals with or without CDH1 germline alterations. Ultimately, the definition of a specific protocol for CDH1 genetic screening and ongoing coordinated management of patients with HLBC is crucial for the effective surveillance and early detection of LBC.

Original languageEnglish
Pages (from-to)431-441
Number of pages11
JournalJournal of Medical Genetics
Volume55
Issue number7
DOIs
Publication statusPublished - Jul 1 2018

Fingerprint

Cadherins
Breast Neoplasms
Breast
Genetic Testing
Age of Onset
Mammary Ultrasonography
Germ-Line Mutation
Genetic Counseling
Plastic Surgery
Mammography
Genetic Predisposition to Disease
Stomach Neoplasms
Ultrasonography
Consensus
Guidelines
Psychology
Mutation

Keywords

  • E-cadherin
  • hereditary cancer
  • lobular breast cancer

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

Cite this

@article{29ca5d5159704384b99abfe80a0af61e,
title = "Hereditary lobular breast cancer with an emphasis on E-cadherin genetic defect",
abstract = "Recent studies have reported germline CDH1 mutations in cases of lobular breast cancer (LBC) not associated with the classical hereditary diffuse gastric cancer syndrome. A multidisciplinary workgroup discussed genetic susceptibility, pathophysiology and clinical management of hereditary LBC (HLBC). The team has established the clinical criteria for CDH1 screening and results' interpretation, and created consensus guidelines regarding genetic counselling, breast surveillance and imaging techniques, clinicopathological findings, psychological and decisional support, as well as prophylactic surgery and plastic reconstruction. Based on a review of current evidence for the identification of HLBC cases/families, CDH1 genetic testing is recommended in patients fulfilling the following criteria: (A) bilateral LBC with or without family history of LBC, with age at onset <50 years, and (B) unilateral LBC with family history of LBC, with age at onset <45 years. In CDH1 asymptomatic mutant carriers, breast surveillance with clinical examination, yearly mammography, contrast-enhanced breast MRI and breast ultrasonography (US) with 6-month interval between the US and the MRI should be implemented as a first approach. In selected cases with personal history, family history of LBC and CDH1 mutations, prophylactic mastectomy could be discussed with an integrative group of clinical experts. Psychodecisional support also plays a pivotal role in the management of individuals with or without CDH1 germline alterations. Ultimately, the definition of a specific protocol for CDH1 genetic screening and ongoing coordinated management of patients with HLBC is crucial for the effective surveillance and early detection of LBC.",
keywords = "E-cadherin, hereditary cancer, lobular breast cancer",
author = "Giovanni Corso and Joana Figueiredo and {La Vecchia}, Carlo and Paolo Veronesi and Gabriella Pravettoni and Debora Macis and Rachid Karam and {Lo Gullo}, Roberto and Elena Provenzano and Antonio Toesca and Ketti Mazzocco and F{\'a}tima Carneiro and Raquel Seruca and Soraia Melo and Fernando Schmitt and Franco Roviello and {De Scalzi}, {Alessandra Margherita} and Mattia Intra and Irene Feroce and {De Camilli}, Elisa and Villardita, {Maria Grazia} and Chiara Trentin and {De Lorenzi}, Francesca and Bernardo Bonanni and Viviana Galimberti",
year = "2018",
month = "7",
day = "1",
doi = "10.1136/jmedgenet-2018-105337",
language = "English",
volume = "55",
pages = "431--441",
journal = "Journal of Medical Genetics",
issn = "0022-2593",
publisher = "BMJ Publishing Group",
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TY - JOUR

T1 - Hereditary lobular breast cancer with an emphasis on E-cadherin genetic defect

AU - Corso, Giovanni

AU - Figueiredo, Joana

AU - La Vecchia, Carlo

AU - Veronesi, Paolo

AU - Pravettoni, Gabriella

AU - Macis, Debora

AU - Karam, Rachid

AU - Lo Gullo, Roberto

AU - Provenzano, Elena

AU - Toesca, Antonio

AU - Mazzocco, Ketti

AU - Carneiro, Fátima

AU - Seruca, Raquel

AU - Melo, Soraia

AU - Schmitt, Fernando

AU - Roviello, Franco

AU - De Scalzi, Alessandra Margherita

AU - Intra, Mattia

AU - Feroce, Irene

AU - De Camilli, Elisa

AU - Villardita, Maria Grazia

AU - Trentin, Chiara

AU - De Lorenzi, Francesca

AU - Bonanni, Bernardo

AU - Galimberti, Viviana

PY - 2018/7/1

Y1 - 2018/7/1

N2 - Recent studies have reported germline CDH1 mutations in cases of lobular breast cancer (LBC) not associated with the classical hereditary diffuse gastric cancer syndrome. A multidisciplinary workgroup discussed genetic susceptibility, pathophysiology and clinical management of hereditary LBC (HLBC). The team has established the clinical criteria for CDH1 screening and results' interpretation, and created consensus guidelines regarding genetic counselling, breast surveillance and imaging techniques, clinicopathological findings, psychological and decisional support, as well as prophylactic surgery and plastic reconstruction. Based on a review of current evidence for the identification of HLBC cases/families, CDH1 genetic testing is recommended in patients fulfilling the following criteria: (A) bilateral LBC with or without family history of LBC, with age at onset <50 years, and (B) unilateral LBC with family history of LBC, with age at onset <45 years. In CDH1 asymptomatic mutant carriers, breast surveillance with clinical examination, yearly mammography, contrast-enhanced breast MRI and breast ultrasonography (US) with 6-month interval between the US and the MRI should be implemented as a first approach. In selected cases with personal history, family history of LBC and CDH1 mutations, prophylactic mastectomy could be discussed with an integrative group of clinical experts. Psychodecisional support also plays a pivotal role in the management of individuals with or without CDH1 germline alterations. Ultimately, the definition of a specific protocol for CDH1 genetic screening and ongoing coordinated management of patients with HLBC is crucial for the effective surveillance and early detection of LBC.

AB - Recent studies have reported germline CDH1 mutations in cases of lobular breast cancer (LBC) not associated with the classical hereditary diffuse gastric cancer syndrome. A multidisciplinary workgroup discussed genetic susceptibility, pathophysiology and clinical management of hereditary LBC (HLBC). The team has established the clinical criteria for CDH1 screening and results' interpretation, and created consensus guidelines regarding genetic counselling, breast surveillance and imaging techniques, clinicopathological findings, psychological and decisional support, as well as prophylactic surgery and plastic reconstruction. Based on a review of current evidence for the identification of HLBC cases/families, CDH1 genetic testing is recommended in patients fulfilling the following criteria: (A) bilateral LBC with or without family history of LBC, with age at onset <50 years, and (B) unilateral LBC with family history of LBC, with age at onset <45 years. In CDH1 asymptomatic mutant carriers, breast surveillance with clinical examination, yearly mammography, contrast-enhanced breast MRI and breast ultrasonography (US) with 6-month interval between the US and the MRI should be implemented as a first approach. In selected cases with personal history, family history of LBC and CDH1 mutations, prophylactic mastectomy could be discussed with an integrative group of clinical experts. Psychodecisional support also plays a pivotal role in the management of individuals with or without CDH1 germline alterations. Ultimately, the definition of a specific protocol for CDH1 genetic screening and ongoing coordinated management of patients with HLBC is crucial for the effective surveillance and early detection of LBC.

KW - E-cadherin

KW - hereditary cancer

KW - lobular breast cancer

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U2 - 10.1136/jmedgenet-2018-105337

DO - 10.1136/jmedgenet-2018-105337

M3 - Review article

AN - SCOPUS:85049325623

VL - 55

SP - 431

EP - 441

JO - Journal of Medical Genetics

JF - Journal of Medical Genetics

SN - 0022-2593

IS - 7

ER -