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. 2019 Aug 2;9:673. doi: 10.3389/fonc.2019.00673

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Copyright © 2019 Zhunussova, Afonin, Abdikerim, Jumanov, Perfilyeva, Kaidarova and Djansugurova.

This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) and the copyright owner(s) are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.

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Pedigree of two patients with familial adenomatous polyposis. Arrow points to the proband. Shading indicates family members that were diagnosed with FAP. Squares and circles denote males and females, respectively. Roman number indicates generations. NGS tested patients, depicted by a plus. (A). APC c. c.3613delA (pathogenic mutation) and MLH1 c. c.2146G > A (VUS) were identified in III-6 (proband CRC2) and III-5 (proband's brother). FANCI c. c.3340delA (pathogenic mutation) were identified in III-6 (proband). (B). APC c.4128T > G (pathogenic mutation) and FANCM c.4881T > G (VUS) were identified in III-2 (proband CRC613) and IV-1 (proband's daughter). APC c.2835delG and MLH1 c.436C > T pathogenic mutations were identified in III-1 (proband's sister). CRC, colorectal cancer; Rect. can., rectal cancer; Colon can., colon cancer; FAP, familial adenomatous polyposis; EC, endometrial cancer.