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Gene
APC
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Mutations increase risk for:
Adenomatous Polyposis Syndrome (colon)
Turcot syndrome (colon)
Colon cancer
Stomach (gastric) cancers
Gardner syndrome (colon)
Breast cancer
Stomach (gastric) cancers
Pancreas cancer
Ovarian cancer
Breast cancer
Juvenile Polyposis Syndrome (colon)
Colorectal cancer
Ovarian cancer
BRCA1
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Breast cancer
Ovarian cancer
Male breast cancer
Pancreatic cancer
Prostate cancer
1, 23, 24
1, 23, 24, 26
1, 23, 25
1, 2, 23, 28
23, 27
BRCA2
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Breast cancer
Ovarian cancer
Male breast cancer
Pancreatic cancer
Prostate cancer
Melanoma
Breast cancer
1, 23, 24
1, 23, 24, 26
1, 23, 25
1, 2, 23, 28
23, 27
2, 33
CDH1
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Breast cancer
Hereditary diffuse gastric cancer
Colorectal cancer
Ovarian cancer
Prostate cancer
1, 2, 36
1,2, 36
1, 37
2, 39
2, 40
CDK4
CDKN2A
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Cutaneous malignant melanoma
Cutaneous malignant melanoma 2
Melanoma astrocytoma syndrome
Melanoma-pancreatic cancer syndrome
Breast cancer
Li-Fraumeni syndrome (colon)
Prostate cancer
Colon cancer
Ovarian cancer
2, 42
2, 43
2, 44
2, 45
2, 46, 49
2, 47
2, 38
2, 51
2, 53
ATM
BARD1
BMPR1A
BRAF
BRIP1
CHEK2
References
1, 2, 3
2, 5
2, 4
2, 7
6
2, 10, 15
2, 11
2, 13
2, 15
2, 16
1, 2, 17
1, 18
2, 149
2, 34
EGFR
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Anal cancer
Epithelial ovarian cancer
56, 57
58, 59
ELAC2
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Prostate cancer, hereditary
2, 62, 63
EPCAM
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Lynch syndrome
2, 65, 66
HRAS1
•
Breast cancer
2, 150
KRAS
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Pancreatic cancer
Colorectal cancer
2, 74, 75
2, 77
MLH1
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Lynch syndrome
Endometrial cancer
Ovarian cancer
1, 2, 79, 82
1, 80
1, 81
MRE11A
MSH2
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Breast & ovarian cancer
Lynch syndrome
2, 151
1, 2, 88, 89
MSH6
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Lynch syndrome
1, 2, 88, 89
MUTYH
NBN
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Familial adenomatous polyposis (colon)
Breast cancer
Prostate cancer
Ovarian cancer
Melanoma
2, 95, 96
2, 99
2, 100
2, 101
2, 102
PALB2
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Breast cancer
2, 104, 105, 106
PMS2
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Lynch syndrome
1, 2, 88, 89
PTCH1
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2, 101, 111
2, 110
2, 110
1, 2, 113
2, 116
2, 117
2, 120
2, 121, 122
2, 123, 124
1, 2, 129
152
RAD50
RAD51C
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Gorlin syndrome (colon)
Breast cancer
Colon cancer
Cowden syndrome (colon)
Prostate cancer
Endometrial cancer
Melanoma
Breast cancer
Breast-ovarian cancer
RET
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Multiple endocrine neoplasia
PTEN
SMAD4
STK11
TP53
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Juvenile polyposis syndrome (colon)
Colon cancer
Pancreas cancer
Breast cancer
Melanoma
Breast cancer
Li-Fraumeni syndrome (colon)
Colorectal cancer
1, 2, 134
2, 136
2, 137
2, 139
2, 141
1, 2, 142
1, 2, 144
2, 145
References
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