@article{4dc685df645e42d4a4340228f5229898,
title = "Position paper: Challenges and specific strategies for constitutional mismatch repair deficiency syndrome in low-resource settings",
abstract = "Germline biallelic mutations in one of the mismatch repair genes, mutS homolog 2, mutS homolog 6, mutL homolog 1, or postmeiotic segregation increased 2, result in one of the most aggressive cancer syndromes in humans termed as constitutional mismatch repair deficiency (CMMRD). Individuals with CMMRD are affected with multiple tumors arising from multiple organs during childhood, and these individuals rarely reach adulthood without specific interventions. The most common tumors observed are central nervous system, hematological, and gastrointestinal malignancies. The incidence of CMMRD is expected to be high in low-resource settings due to a high rate of consanguinity in these regions, and it is thought to be underrecognized and consequently underdiagnosed. This position paper is therefore important to provide a summary of the current situation, and to highlight the necessity of increasing awareness, diagnostic criteria, and surveillance to improve survival for patients and family members.",
keywords = "BMMRD, CMMRD, CNS tumors, RRD, caf{\'e} au lait spots, cancer genetics, hematological malignancies gastrointestinal malignancies, neurofibromatosis, surveillance",
author = "Rejin Kebudi and Nisreen Amayiri and Malak Abedalthagafi and Rana, {Asım Noor} and Salman Kirmani and Naureen Musthaq and Lamki, {Zakiya Al} and Houdzi, {Jamila El} and Hulya Yazici and Shahenda El-Naggar and Melissa Edwards and Bianchi, {Vanessa J.} and Carol Durno and Uri Tabori and Eric Bouffet",
note = "Funding Information: EB reported grants from Bristol Myers Squibb, during the conduct of the study. The institution, The Hospital for Sick Children, Toronto, Canada, received Research Funding from Bristol Myers Squibb. The other authors report no conflict of interest. Study design: Kebudi, Tabori, and Bouffet; literature search: all authors; tables: Kebudi, Amayiri, Edwards, Bianchi, Durno, Tabori, and Bouffet; data collection: all authors; data analysis: Kebudi, Amayiri, Abedalthagafi, Noor Rana, Kirmani, El Houdzi, Durno, Tabori, and Bouffet; data interpretation: Kebudi, Amayiri, Abedalthagafi,, Durno, Tabori, and Bouffet; writing: all authors; final approval of manuscript: all authors. Publisher Copyright: {\textcopyright} 2020 Wiley Periodicals, Inc.",
year = "2020",
month = aug,
day = "1",
doi = "10.1002/pbc.28309",
language = "English",
volume = "67",
journal = "Pediatric Blood and Cancer",
issn = "1545-5009",
publisher = "Wiley-Liss Inc.",
number = "8",
}
