A novel germline mutation of the MEN 1 gene associated with multiple endocrine neoplasia type 1 (MEN1 syndrome) followed over three generations of a family

2016 ◽  
Author(s):  
Joao Anselmo ◽  
Isabel Sousa ◽  
Branca Cavaco ◽  
Valeriano Leite e Rui Cesar
Keyword(s):  
Germline Mutation ◽  
Multiple Endocrine Neoplasia ◽  
Multiple Endocrine Neoplasia Type ◽  
Men1 Syndrome ◽  
Men 1 ◽  
Three Generations ◽  
Endocrine Neoplasia ◽  
Endocrine Neoplasia Type

scholarly journals A Germline Mutation, 1001delC, of the Multiple Endocrine Neoplasia Type 1 (MEN 1) Gene in a Japanese Family.

2001 ◽  
Vol 40 (6) ◽  
pp. 499-505 ◽  
Author(s):  
Seiki WADA ◽  
Masaki WATANABE ◽  
Toshihiko TSUKADA ◽  
Shigemitsu YASUDA ◽  
Ken YAMAGUCHI ◽  
...  
Keyword(s):  
Germline Mutation ◽  
Multiple Endocrine Neoplasia ◽  
Multiple Endocrine Neoplasia Type ◽  
Japanese Family ◽  
Men 1 ◽  
Endocrine Neoplasia ◽  
Endocrine Neoplasia Type

Breast cancer in a patient with multiple endocrine neoplasia type 1 (MEN 1): A case report and review of the literature.

2012 ◽  
Vol 30 (15_suppl) ◽  
pp. e21136-e21136
Author(s):  
Zorka Momcilo Inic ◽  
Momcilo Inic ◽  
Radan Dzodic ◽  
Gordana Pupic ◽  
Svetozar Damjanovic
Keyword(s):  
Breast Cancer ◽  
Case Report ◽  
Serum Concentration ◽  
Multiple Endocrine Neoplasia ◽  
Multiple Endocrine Neoplasia Type ◽  
The Body ◽  
Men 1 ◽  
Endocrine Neoplasia ◽  
Endocrine Neoplasia Type

e21136 Background: We treated a patient with breast cancer associated with multiple endocrine neoplasia type 1 (MEN 1). There are only few studies of the development of breast cancer in patients diagnosed with MEN1 syndrome. Methods: We found that patient had a pituitary macroadenoma that secretes prolactin (prolactinomas), increased serum concentration of calcium, 4.09 mmol/l and increased serum concentration of PTH, 212 pg/ml. Neck ultrasound and scintigrafy showed suspicious adenoma in lower left parathyroid gland. A computed tomography scan of the abdomen revealed a tumor mass in the body of the pancreas and adenoma in the left suprarenal gland. We diagnosed multiple endocrine neoplasia type 1 (MEN 1). Results: MEN1 occurs as a result of inactivating mutations of the MEN1 gene (MEN1), located on chromosome11q13. Results indicate that menin is a direct activator of ERalpha function. In a clinical study, in Kagawa, with 65 ER-positive breast cancer samples-all of which had been treated with tamoxifen for 2-5 years as adjuvant therapies-menin-positive tumors had a worse outcome than menin-negative ones. This indicated that menin can function as a transcriptional regulator of ERalpha and is a possible predictive factor for tamoxifen resistance.These results demonstrate that allelic deletions of the 13q12-14 region occur in some pituitary adenomas and 16% of parathyroid adenomas. Conclusions: As recent molecular studies have suggested genetic mutations in multiple endocrine neoplasia type 1, this syndrome may possibly predispose patients to breast cancer.This possibility cannot be evaluated definitively on the basis of a single case report; additional observations and studies are necessary to investigate this hypothesis further.

scholarly journals A Novel Germline Mutation of Multiple Endocrine Neoplasia Type 1 (MEN1) Gene in a Japanese MEN1 Patient and Her Daughter.

1999 ◽  
Vol 46 (2) ◽  
pp. 325-329 ◽  
Author(s):  
HIDEMI OHYE ◽  
MAKOTO SATO ◽  
SHUJI MATSUBARA ◽  
AKIRA MIYAUCHI ◽  
KEIKO KISHI-IMAI ◽  
...  
Keyword(s):  
Germline Mutation ◽  
Multiple Endocrine Neoplasia ◽  
Multiple Endocrine Neoplasia Type ◽  
Men1 Gene ◽  
Endocrine Neoplasia ◽  
Endocrine Neoplasia Type
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