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The neglected role of preimplantation genetic testing for Lynch syndrome.
Dallagiovanna, Chiara; Filippi, Francesca; Riccaboni, Alessandra; Vigano', Paola; Martinelli, Fabio; Somigliana, Edgardo; Ricci, Maria Teresa; Vitellaro, Marco.
Afiliação
  • Dallagiovanna C; Infertility Unit, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy. Electronic address: chiara.dallagiovanna@policlinico.mi.it.
  • Filippi F; Infertility Unit, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy.
  • Riccaboni A; Infertility Unit, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy.
  • Vigano' P; Infertility Unit, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy.
  • Martinelli F; Gynaecologic Oncology Unit, Fondazione IRCCS Istituto Nazionale dei Tumori, Milan, Italy.
  • Somigliana E; Infertility Unit, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy; Department of Clinical Sciences and Community Health, Università degli Studi di Milano, Milan, Italy.
  • Ricci MT; Unit of Hereditary Digestive Tract Tumours, Department of Surgery, Fondazione IRCCS Istituto Nazionale dei Tumori, Milan, Italy.
  • Vitellaro M; Unit of Hereditary Digestive Tract Tumours, Department of Surgery, Fondazione IRCCS Istituto Nazionale dei Tumori, Milan, Italy.
Reprod Biomed Online ; 46(3): 421-423, 2023 03.
Article em En | MEDLINE | ID: mdl-36566148
Preimplantation genetic testing for monogenic/single-gene disorders (PGT-M) is a procedure employed in the field of assisted reproductive technology to avoid the transmission of genetic diseases to the offspring. Hereditary cancer syndromes represent a diffuse and accepted indication for PGT-M, but take-up differs among the different disorders. Its use is markedly lower for the genes causing Lynch syndrome compared with the breast cancer type 1 or 2 susceptibility genes (BRCA1/2), despite the similar prevalence and severity of the two conditions. Reasons to explain this difference have not been explored. First, Lynch syndrome may be more frequently undiagnosed compared with hereditary breast and ovarian cancer syndrome. In addition, the different take-up may be due to different patient perceptions of the conditions and of the management options. Finally, this distinct attitude may depend on the awareness and sensibility of the professionals caring for affected patients. The authors' considerations are, however, speculative, and specific studies aimed at disentangling the causes of the different receptions of PGT-M are warranted to understand how to tackle this gap. In the meantime, we believe that empowerment regarding PGT-M of all individuals with hereditary cancer syndromes, including Lynch syndrome, is ethically due, and plead for a more active involvement of caregivers.
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Neoplasias Colorretais Hereditárias sem Polipose / Diagnóstico Pré-Implantação / Síndrome Hereditária de Câncer de Mama e Ovário Tipo de estudo: Risk_factors_studies Limite: Female / Humans / Pregnancy Idioma: En Ano de publicação: 2023 Tipo de documento: Article

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Neoplasias Colorretais Hereditárias sem Polipose / Diagnóstico Pré-Implantação / Síndrome Hereditária de Câncer de Mama e Ovário Tipo de estudo: Risk_factors_studies Limite: Female / Humans / Pregnancy Idioma: En Ano de publicação: 2023 Tipo de documento: Article