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Table 4 Clinical phenotypes of PPAP considering the 169 carriers (122 cancer-affected) reported in the literature with any of the 17 pathogenic variants listed in Table 2. Columns 2–4 consider individual cancers (if one person was diagnosed with several primary tumors, they are individually accounted for). Columns 5–7 consider the number of carriers with a specific phenotype, See Table S4 for details

From: Recommendations for the classification of germline variants in the exonuclease domain of POLE and POLD1

Clinical phenotypes

Cancers in POLE carriers (%)

Cancers in POLD1 carriers (%)

Cancers in POLE & POLD1 carriers (%)

POLE carriers (%)

POLD1 carriers (%)

POLE & POLD1 carriers (%)

Cancersg

Cancer-affected carriersg

Total

164

48

212

94

28

122

CRC

102 (62.20%)

27 (56.25%)

129 (60.85%)

76 (80.85%)

20 (71.43%)

96 (78.69%)

Median age (range)

Age: 45 (13–88)

Age: 39.7 (21–80)

Age: 43.7 (13–88)

Age: 41 (13–88)

Age: 39.6 (21–80)

Age: 41.6 (13–88)

Endometrial cancera

11/87 (12.64%)

11/36 (30.56%)

22/123 (18.89%)

11/41(26.83%)

11/20 (55.00%)

22/61 (36.07%)

Median age (range)

Age: 50 (30–56)

Age: 50 (31–58)

Age: 48.8 (30–58)

Age: 50 (30–56)

Age: 50 (31–58)

Age: 48.8 (30–58)

Breast cancera

7/87 (8.05%)

5/36 (13.89%)

12/123 (9.76%)

7/41 (17.07%)

4/20 (22.00%)

11/61 (18.03%)

Median age (range)

Age: 50 (38–65)

Age: 62.6 (52–75)

Age: 52.3 (38–75)

Age: 50 (38–65)

Age: 59.5 (52–65)

Age: 53.5 (38–65)

Ovarian cancera

8/87 (9.20%)

0/36 (0%)

8/123 (6.50%)

7/41 (17.07%)

0/20 (0%)

7/61 (11.48%)

Median age (range)

Age: 37 (33–50)

n.a

Age: 37 (33–50)

Age: 37 (33–50)

n.a

Age: 37 (33–50)

Extracolonic GI cancerb

12 (7.32%)

1 (2.08%)

13 (6.13%)

12 (12.77%)

1 (3.57%)

13 (10.66%)

Median age (range)

Age: 53.5 (35–78)

Age: 36 (36–36)

Age: 52 (35–78)

Age: 53.5 (35–78)

Age: 36 (36–36)

Age: 52 (35–78)

Brain cancer

17 (10.37%)

2 (4.17%)

19 (8.96%)

17 (18.08%)

2 (7.14%)

18 (14.75%)

Median age (range)

Age: 30 (4–66)

Age: 26 (26–26)

Age: 29 (4–66)

Age: 30 (4–66)

Age: 26 (26–26)

Age: 29.5 (4–66)

Other cancersc

7 (4.27%)

2 (4.17%)

9 (4.24%)

7 (7.45%)

2 (7.14%)

9 (7.38%)

Median age (range)

Age: 47 (31–71)

Age: 60.5 (56–65)

Age: 48 (31–71)

Age: 47 (31–71)

Age: 60.5 (56–65)

Age: 49.5 (31–71)

Multiple primary cancers

-

-

-

28 (29.79%)

11 (39.3%)

39 (32%)

Median age

   

Age: 46 (11–76)

Age: 44.7 (26–65)

Age: 45.6 (11–76)

    

Carriers

Total

   

128

41

169

Individuals affected with neoplastic and preneoplastic lesions, and non-tumoral extracolonic manifestationsd

-

-

-

98 (76.56%)

28 (68.29%)

126 (74.56%)

Median age (range)

   

Age:42 (1–88)

Age: 45 (21–80)

Age: 42 (1–88)

Cancer-freee

-

-

-

34 (26.56%)

13 (31.70%)

47 (27.81%)

Carriers with > 10 polyps reportedf

-

-

-

41 (61.19%)

12 (50.00%)

53 (58.24%)

Median age (range)

   

Age: 35 (13–67)

Age: 40 (28–53)

Age: 37 (13–67)

  1. aOnly females considered (123 cancers; 87 POLE and 36 POLD1; 61 cancer-affected female carriers; 41 POLE and 20 POLD1)
  2. bExtracolonic GI cancer: gastric cancer, pancreatic cancer, small intestine cancer, duodenal cancer, esophageal cancer, and gastrointestinal stromal tumors
  3. cOther phenotypes: prostate cancer, kidney cancer, skin cancer, ureter cancer, neuroendocrine colon cancer, and mesothelioma
  4. dTotal calculated considering all phenotypes: cancers, benign/premalignant tumors (e.g. polyps), and non-tumoral extracolonic manifestations (e.g. café-au-lait macules)
  5. eAge information for cancer-free individuals is very scarce in the literature and was not included
  6. fFrequency calculated based on 91 carriers with polyp information (67 POLE and 24 POLD1 carriers)
  7. gTotal calculated considering cancer phenotypes. Polyps, benign tumors and other non-tumoral manifestations were not included
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Genome Medicine

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