PMC4942885_01
Pedigree and MSH2 c.2656 G > T (p.Glu886*) carriers of the Pakistani cancer family 326. Circles are females, squares are males, and a diagonal slash indicates a deceased individual. Symbols with filled left upper quadrant: unilateral breast cancer. Symbols with filled upper half: bilateral breast cancer. Symbols with filled left lower quadrant: ovarian cancer. Symbols with filled right lower quadrant: cancer other than breast/ovarian cancer, the name of which is mentioned. Identification numbers of individuals are shown below the symbols. The index patient is indicated by an arrow. ALL, acute lymphoid leukemia; BC, breast cancer; OC, ovarian cancer. The numbers following these abbreviations indicate age at cancer diagnosis. M+, mutation positive. [M+], obligatory mutation carrier. M-, mutation negative
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Fig1
The index patient (III:14) reported an extensive family history of malignancy (Fig. 1). This family also fulfilled the recognized criteria for suspected LS (Fig. 1): that includes (i) among first degree relatives of a colorectal cancer patient (or in himself) at least 1 colorectal cancer, cancer of the endometrium, small bowel or urinary tract; (ii) at least one of the above cancers diagnosed under age 50; and (iii) familial adenomatous polyposis excluded.