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Items: 12

1.

RECLASSIFIED - VARIANT OF UNKNOWN SIGNIFICANCE

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:
864405
Concept ID:
C4015968
Finding
2.

pancreatic cancer susceptibility

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:
854015
Concept ID:
C3469525
Finding
3.

Pancreatic cancer 4

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:
482072
Concept ID:
C3280442
Finding; Neoplastic Process
4.

Pancreatic cancer 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:
461896
Concept ID:
C3150546
Finding; Neoplastic Process
5.

Glioma susceptibility 3

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:
442777
Concept ID:
C2751641
Disease or Syndrome; Finding
6.

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
7.

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
8.

Fanconi anemia, complementation group D1

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:
325420
Concept ID:
C1838457
Disease or Syndrome
9.

Malignant tumor of prostate

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:
138169
Concept ID:
C0376358
Neoplastic Process
10.

Pre-B-cell acute lymphoblastic leukemia

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:
83896
Concept ID:
C0349636
Neoplastic Process
11.

Nephroblastoma

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:
10221
Concept ID:
C0027708
Neoplastic Process
12.

Medulloblastoma

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:
7517
Concept ID:
C0025149
Neoplastic Process
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