Familial Colorectal Cancer Syndromes: Genetic Profiles and Clinical Presentations

These pedigrees depict familial colorectal cancer syndromes in Ashkenazi and Iraqi Jews, showcasing early-onset MMR-proficient CRC cases linked to mutations in POLD1 and POLE genes. The pedigrees detail various cancer diagnoses, mutation carrier statuses, and ages of onset across multiple generations, highlighting the complexity of genetic predisposition to colorectal cancer.

• Colorectal Cancer
• Genetic Syndromes
• POLD1 Gene
• POLE Gene
• Familial Cancer

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Uploaded on Sep 07, 2024 | 0 Views

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1. Pedigree 1 - Early-onset MMR-proficient CRC POLD1 p.V759I, c.2275G>A Ashkenazi Jews CRC (73 yrs) Mutation status unknown Breast cancer (63 yrs) CRC (45 yrs) Mutation carrier (+/-) Leukemia (62 yrs) CRC (28 yrs) Mutation carrier (+/-)

2. Pedigree 2 - Early-onset MMR-proficient CRC POLD1 p.V759I, c.2275G>A Ashkenazi Jews CRC (65 yrs) Mutation status unknown Lung cancer (51 yrs) Endometrial cancer (43 yrs) Mutation carrier (+/-) CRC (45 yrs) Mutation status unknown Melanoma (41 yrs) CRC (49 yrs) Mutation carrier (+/-) Breast Non carrier (-/-) Mutation carrier (+/-) Melanoma (27 yrs) Non carrier (-/-) Non carrier (-/-) Mutation carrier (+/-) Non carrier (-/-)

3. Pedigree 3- Early-onset MMR-proficient CRC POLD1 p.R195*, c.583C>T Ashkenazi Jews CRC (62 yrs) Mutation status unknown Non carrier (-/-) Few colorectal adenomas ( 67 yrs) Mutation carrier (+/-) Non carrier (-/-) CRC (40 yrs) Mutation carrier (+/-) Mutation carrier (+/-) Non carrier (-/-)

4. Pedigree 4- Multiple colorectal adenomas POLD1 p.V759I, c.2275G>A Iraqi Jews Mutation status unknown CRC (38 yrs) Mutation status unknown Mutation status unknown Multiple colorectal adenomas ( 62 yrs) Recurrent BCC Mutation carrier (+/-) CRC (43 yrs) Mutation carrier (+/-) Leukemia (37 yrs) Mutation status unknown Thyroid cancer (42 yrs) Mutation carrier (+/-) Mutation carrier (+/-) Lung cancer (45 yrs) Mutation status unknown Mutation status unknown

5. Pedigree 5- Multiple colorectal adenomas POLE p.E277G, c.830A>G Ashkenazi Jews 78 yrs Few colorectal adenomas (62 yrs) caf au-lait spots Mutation carrier (+/-) 54 yrs 56 yrs CRC (41 yrs) caf au-lait spots Mutation carrier (+/-) Normal colonoscopy Non carrier (-/-) 24 yrs Multiple colorectal adenomas Brain tumor caf au-lait spots Mutation carrier (+/-) 22 yrs Multiple colorectal adenomas caf au-lait spots Mutation carrier (+/-) 21 yrs Multiple colorectal adenomas caf au-lait spots Mutation carrier (+/-) 23 yrs Multiple colorectal adenomas caf au-lait spots Mutation carrier (+/-)