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BRCA1 and BRCA2 germline testing in Cretan isolates reveals novel and strong founder effects.

International journal of cancer - 1 Sept 2020

Apostolou Paraskevi, Fostira Florentia, Kouroussis Charalambos, Kalfakakou Despoina, Delimitsou Angeliki, Agelaki Sofia, Androulakis Nikolaos, Christodoulou Christos, Kalbakis Konstantinos, Kalykaki Antonia, Sanidas Elias, Papadimitriou Christos, Vamvakas Lambros, Georgoulias Vassilis, Mavroudis Dimitris, Yannoukakos Drakoulis, Konstantopoulou Irene, Saloustros Emmanouil

Abstract excerpt

Germline BRCA1 and BRCA2 loss-of-function variants have been linked to increased breast and ovarian cancer risk, with more than 5,000 distinct pathogenic variants being reported worldwide. Among individuals of Greek descent, the BRCA1/2 variant spectrum is heterogeneous, but characterized by strong founder effects. As patients from certain geographical regions of Greece (like Crete) were underrepresented in...

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PMID: 32022259
DOI: 10.1002/ijc.32903

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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