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Items: 4

1.

Breast-ovarian cancer, familial 1

Hereditary breast and ovarian cancer syndrome (HBOC), caused by a germline pathogenic variant in BRCA1 or BRCA2, is characterized by an increased risk for breast cancer, ovarian cancer, prostate cancer, and pancreatic cancer. The lifetime risk for these cancers in individuals with a pathogenic variant in BRCA1 or BRCA2: 40%-80% for breast cancer. 11%-40% for ovarian cancer. 1%-10% for male breast cancer. Up to 39% for prostate cancer. 1%-7% for pancreatic cancer. Individuals with BRCA2 pathogenic variants may also be at an increased risk for melanoma. Prognosis for BRCA1/2-related cancer depends on the stage at which the cancer is diagnosed; however, studies on survival have revealed conflicting results for individuals with germline BRCA1 or BRCA2 pathogenic variants when compared to controls. [from GeneReviews]

MedGen UID:
382914
Concept ID:
C2676676
Finding
2.

Breast-ovarian cancer, familial 2

Hereditary breast and ovarian cancer syndrome (HBOC), caused by a germline pathogenic variant in BRCA1 or BRCA2, is characterized by an increased risk for breast cancer, ovarian cancer, prostate cancer, and pancreatic cancer. The lifetime risk for these cancers in individuals with a pathogenic variant in BRCA1 or BRCA2: 40%-80% for breast cancer. 11%-40% for ovarian cancer. 1%-10% for male breast cancer. Up to 39% for prostate cancer. 1%-7% for pancreatic cancer. Individuals with BRCA2 pathogenic variants may also be at an increased risk for melanoma. Prognosis for BRCA1/2-related cancer depends on the stage at which the cancer is diagnosed; however, studies on survival have revealed conflicting results for individuals with germline BRCA1 or BRCA2 pathogenic variants when compared to controls. [from GeneReviews]

MedGen UID:
382625
Concept ID:
C2675520
Finding
3.

Hereditary breast and ovarian cancer syndrome

Hereditary breast and ovarian cancer syndrome (HBOC), caused by a germline pathogenic variant in BRCA1 or BRCA2, is characterized by an increased risk for breast cancer, ovarian cancer, prostate cancer, and pancreatic cancer. The lifetime risk for these cancers in individuals with a pathogenic variant in BRCA1 or BRCA2: 40%-80% for breast cancer. 11%-40% for ovarian cancer. 1%-10% for male breast cancer. Up to 39% for prostate cancer. 1%-7% for pancreatic cancer. Individuals with BRCA2 pathogenic variants may also be at an increased risk for melanoma. Prognosis for BRCA1/2-related cancer depends on the stage at which the cancer is diagnosed; however, studies on survival have revealed conflicting results for individuals with germline BRCA1 or BRCA2 pathogenic variants when compared to controls. [from GeneReviews]

MedGen UID:
151793
Concept ID:
C0677776
Neoplastic Process
4.

Familial cancer of breast

Hereditary breast and ovarian cancer syndrome (HBOC), caused by a germline pathogenic variant in BRCA1 or BRCA2, is characterized by an increased risk for breast cancer, ovarian cancer, prostate cancer, and pancreatic cancer. The lifetime risk for these cancers in individuals with a pathogenic variant in BRCA1 or BRCA2: 40%-80% for breast cancer. 11%-40% for ovarian cancer. 1%-10% for male breast cancer. Up to 39% for prostate cancer. 1%-7% for pancreatic cancer. Individuals with BRCA2 pathogenic variants may also be at an increased risk for melanoma. Prognosis for BRCA1/2-related cancer depends on the stage at which the cancer is diagnosed; however, studies on survival have revealed conflicting results for individuals with germline BRCA1 or BRCA2 pathogenic variants when compared to controls. [from GeneReviews]

MedGen UID:
87542
Concept ID:
C0346153
Neoplastic Process
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