The genetic landscape of Lynch syndrome in the Israeli population.

doi:10.1007/s10689-024-00432-w

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The genetic landscape of Lynch syndrome in the Israeli population.

Familial cancer - 15 Nov 2024

Abu Shtaya Aasem, Nathan Sofia Naftaly, Kedar Inbal, Friedman Eitan, Half Elizabeth, Lidzbarsky Gabi, Levi Gili Reznick, Laish Ido, Katz Lior, Bazak Lily, Peretz Lilach Peled, Salmon Lina Basel, Douiev Liza, Kalis Marina Lifshitc, Schechter Menachem, Barzily-Rokni Michal, Samra Nadra Nasser, Abu-Freha Naim, Hagari-Bechar Ofir, Segol Ori, Mattar Samar, Barhom Sarit Farage, Mordechai Shikma, Rafid Shiri Shkedi, Shalev Stavit A, Peretz-Yablonski Tamar, Levi Zohar, Bruchim Revital, Vinkler Chana, Bernstein-Molho Rinat, Lieberman Sari, Goldberg Yael

Abstract excerpt

Deciphering the spectrum and founder disease-causing variants (DCVs) in specific populations can shape and facilitate the diagnostic process of Lynch Syndrome (LS). The aim of this report was to comprehensively update on the genetic landscape of LS in the ethnically diverse Israeli-Jewish population. The cohort included 1080 carriers from 588 families; some from underrepresented, understudied Israeli ethnic...

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PMID: 39546165
DOI: 10.1007/s10689-024-00432-w
PMCID: PMC11567984

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MSH2

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