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Early-Onset Breast Cancer in a Family with Neurofibromatosis Type 1 Associated with a Germline Mutation in BRCA1.

Jeon YW, Kim RM, Lim ST, Choi HJ, Suh YJ - J Breast Cancer (2015)

Bottom Line: Neurofibromatosis type 1 (NF1), which may occur as an autosom-al dominant disorder, is caused by the absence of neurofibromin protein due to somatic mutations in the NF1 gene, and it has been associated with an increased risk of breast cancer.We evaluated whether the concomitance of NF1 and early-onset breast cancer could be due to disease-causing mutations in both NF1 and BRCA1 gene in a Korean family with clinical features of both NF1 and hereditary breast cancer.Our findings indicate that an awareness of the possible concomitance of NF1 and BRCA1 gene mutations is important for identifying the genetic origin of early-onset breast cancer in patients with NF1 to achieve early detection of cancers and decrease breast cancer-associated morbidity and mortality in these patients.

View Article: PubMed Central - PubMed

Affiliation: Department of Surgery, St. Vincent's Hospital, The Catholic University of Korea College of Medicine, Suwon, Korea.

ABSTRACT
Neurofibromatosis type 1 (NF1), which may occur as an autosom-al dominant disorder, is caused by the absence of neurofibromin protein due to somatic mutations in the NF1 gene, and it has been associated with an increased risk of breast cancer. Herein we describe a family with two women affected by both NF1 and early-onset breast cancer. We evaluated whether the concomitance of NF1 and early-onset breast cancer could be due to disease-causing mutations in both NF1 and BRCA1 gene in a Korean family with clinical features of both NF1 and hereditary breast cancer. Mutation analyses identified nonsense mutations in NF1 and BRCA1 genes. Our findings indicate that an awareness of the possible concomitance of NF1 and BRCA1 gene mutations is important for identifying the genetic origin of early-onset breast cancer in patients with NF1 to achieve early detection of cancers and decrease breast cancer-associated morbidity and mortality in these patients.

No MeSH data available.


Related in: MedlinePlus

Pedigree of the family showing the index case (black arrow). The proband (III:2) was diagnosed with invasive breast carcinoma at 21 years of age and neurofibromatosis type 1 (NF1) at birth. Her mother (II:1) was affected with bilateral breast carcinoma, ovarian carcinoma and NF1. Although her grandmother (I:1) was affected by NF1, she did not have a history of carcinoma. Other familial members were not affected by cancer or NF1.
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Figure 1: Pedigree of the family showing the index case (black arrow). The proband (III:2) was diagnosed with invasive breast carcinoma at 21 years of age and neurofibromatosis type 1 (NF1) at birth. Her mother (II:1) was affected with bilateral breast carcinoma, ovarian carcinoma and NF1. Although her grandmother (I:1) was affected by NF1, she did not have a history of carcinoma. Other familial members were not affected by cancer or NF1.

Mentions: A pedigree revealing two women affected by both NF1 and early-onset breast cancer is presented in Figure 1. A 21-year-old woman (proband III:2) presenting with a palpable mass in her right breast was admitted to our institution. The proband was diagnosed with high-grade invasive lobular breast carcinoma (T2N1M0, estrogen receptor [ER] positive, progesterone receptor [PR] negative, human epidermal growth factor receptor 2 [HER2] negative, and Ki-67 25%) after breastconserving surgery. The proband was treated with adjuvant chemotherapy (six cycles of a regimen consisting of 5-fluorouracil, doxorubicin, and cyclophosphamide) and radiation therapy, and is currently receiving endocrine therapy (tamoxifen). NF1 was diagnosed at birth, as established by the presence of café au lait spots, intertriginous freckling, and cutaneous neurofibromas.


Early-Onset Breast Cancer in a Family with Neurofibromatosis Type 1 Associated with a Germline Mutation in BRCA1.

Jeon YW, Kim RM, Lim ST, Choi HJ, Suh YJ - J Breast Cancer (2015)

Pedigree of the family showing the index case (black arrow). The proband (III:2) was diagnosed with invasive breast carcinoma at 21 years of age and neurofibromatosis type 1 (NF1) at birth. Her mother (II:1) was affected with bilateral breast carcinoma, ovarian carcinoma and NF1. Although her grandmother (I:1) was affected by NF1, she did not have a history of carcinoma. Other familial members were not affected by cancer or NF1.
© Copyright Policy - open-access
Related In: Results  -  Collection

License
Show All Figures
getmorefigures.php?uid=PMC4381130&req=5

Figure 1: Pedigree of the family showing the index case (black arrow). The proband (III:2) was diagnosed with invasive breast carcinoma at 21 years of age and neurofibromatosis type 1 (NF1) at birth. Her mother (II:1) was affected with bilateral breast carcinoma, ovarian carcinoma and NF1. Although her grandmother (I:1) was affected by NF1, she did not have a history of carcinoma. Other familial members were not affected by cancer or NF1.
Mentions: A pedigree revealing two women affected by both NF1 and early-onset breast cancer is presented in Figure 1. A 21-year-old woman (proband III:2) presenting with a palpable mass in her right breast was admitted to our institution. The proband was diagnosed with high-grade invasive lobular breast carcinoma (T2N1M0, estrogen receptor [ER] positive, progesterone receptor [PR] negative, human epidermal growth factor receptor 2 [HER2] negative, and Ki-67 25%) after breastconserving surgery. The proband was treated with adjuvant chemotherapy (six cycles of a regimen consisting of 5-fluorouracil, doxorubicin, and cyclophosphamide) and radiation therapy, and is currently receiving endocrine therapy (tamoxifen). NF1 was diagnosed at birth, as established by the presence of café au lait spots, intertriginous freckling, and cutaneous neurofibromas.

Bottom Line: Neurofibromatosis type 1 (NF1), which may occur as an autosom-al dominant disorder, is caused by the absence of neurofibromin protein due to somatic mutations in the NF1 gene, and it has been associated with an increased risk of breast cancer.We evaluated whether the concomitance of NF1 and early-onset breast cancer could be due to disease-causing mutations in both NF1 and BRCA1 gene in a Korean family with clinical features of both NF1 and hereditary breast cancer.Our findings indicate that an awareness of the possible concomitance of NF1 and BRCA1 gene mutations is important for identifying the genetic origin of early-onset breast cancer in patients with NF1 to achieve early detection of cancers and decrease breast cancer-associated morbidity and mortality in these patients.

View Article: PubMed Central - PubMed

Affiliation: Department of Surgery, St. Vincent's Hospital, The Catholic University of Korea College of Medicine, Suwon, Korea.

ABSTRACT
Neurofibromatosis type 1 (NF1), which may occur as an autosom-al dominant disorder, is caused by the absence of neurofibromin protein due to somatic mutations in the NF1 gene, and it has been associated with an increased risk of breast cancer. Herein we describe a family with two women affected by both NF1 and early-onset breast cancer. We evaluated whether the concomitance of NF1 and early-onset breast cancer could be due to disease-causing mutations in both NF1 and BRCA1 gene in a Korean family with clinical features of both NF1 and hereditary breast cancer. Mutation analyses identified nonsense mutations in NF1 and BRCA1 genes. Our findings indicate that an awareness of the possible concomitance of NF1 and BRCA1 gene mutations is important for identifying the genetic origin of early-onset breast cancer in patients with NF1 to achieve early detection of cancers and decrease breast cancer-associated morbidity and mortality in these patients.

No MeSH data available.


Related in: MedlinePlus