FANCA D1359Y mutation in a patient with gastric polyposis and cancer susceptibility: A case report and review of literature

Table 1 Single nucleotide variants and short insertion/deletions in benign and malignant gastric polyps, and jejunal gastrointestinal stromal tumor identified in a comprehensive cancer panel sequencing screen containing 409 cancer-related exons

Gene	DNA change	Amino acid change	A	B	C	D	E	F
			Benign polyp			Malignant polyp
			Hyperplastic polyp	Tubular adenoma	Tubular adenoma with low-to-high-grade intraepithelial neoplasia	Tubular adenoma with signet ring cell gastric adenocarcinoma	Tubular adenoma with focal intramucosal carcinoma	Jejunal GIST
			1.5 cm	2.5 cm	N/A	2.5 cm	5 cm	N/A
1FANCA	c. 4075G>T	p. D1359Y	48.40%	54.00%	47.50%	52.00%	37.80%	45.70%
1BAI3	c. 932C>G	p. S311W	50.30%	46.10%	40.90%	50.40%	51.30%	49.30%
1RPS6KA2	c. 1784C>T	p. T595I	48.00%	49.40%	47.70%	45.70%	51.50%	48.40%
TET1	c. 2617G>A	p. V873I		10.10%	7.40%
GNAS	c. 2530C>T	p. R844C		6.30%
SMAD4	c. 1081C>T	p. R361C			6.40%
CTNNB1	c. 134C>T	p. S45F			23.60%	4.20%
PLEKHG5	c. 607C>T	p. R203C			40.70%	15.30%	35.40%
BAI3	c. 1850T>C	p. L617P					37.70%
P53	c. 489dupC	p. K164fs					49.90%
KIT	C1502_1503insTGCCTA	p. S501_A502insAY						37.30%
PSIP1	c. 1541G>A	p. S514N						14.00%
BCL9	c. 3572C>G	p. A1191G						13.10%
BCL9	c. 3583C>G	p. P1195A						13.00%
NKX2-1	C627C>A	p. F209L						7.50%

¹Somatic mutation. Percentage indicates variant frequency of the mutation. GIST: Gastro-intestinal stromal tumor.