NDLI: All in the family? Analyzing the impact of family history in addition to genotype on medullary thyroid carcinoma aggressiveness in MEN2A patients

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Familial Cancer : Volume 16, Issue 2, April 2017

BRCA1 allele-specific expression in genetic predisposed breast/ovarian cancer

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Attenuated polyposis of the large bowel: a morphologic and molecular approach

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A case of multiple gastrointestinal stromal tumors caused by a germline KIT gene mutation (p.Leu576Pro)

Uptake of prenatal diagnostic testing for retinoblastoma compared to other hereditary cancer syndromes in the Netherlands

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All in the family? Analyzing the impact of family history in addition to genotype on medullary thyroid carcinoma aggressiveness in MEN2A patients

DICER1 mutation and tumors associated with a familial tumor predisposition syndrome: practical considerations

Recurrent TP53 missense mutation in cancer patients of Arab descent

Double germline mutations in APC and BRCA2 in an individual with a pancreatic tumor

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All in the family? Analyzing the impact of family history in addition to genotype on medullary thyroid carcinoma aggressiveness in MEN2A patients

Content Provider	Springer Nature Link
Author	Long, Kristin L. Etzel, Carol Rich, Thereasa Hyde, Samuel Perrier, Nancy D. Graham, Paul H. Lee, Jeffrey E. Hu, Mimi I. Cote, Gilbert J. Gagel, Robert Grubbs, Elizabeth G.
Copyright Year	2016
Abstract	Several guidelines for patients with multiple endocrine neoplasia 2A (MEN2A) take into account genotype and family history of medullary thyroid carcinoma (MTC) disease aggressiveness. We sought to determine if an association exists independent of genotype, which could provide important information for counseling MEN2A patients in management of their MTC. Pedigrees of patients with ≥5 family members with MEN2A were retrospectively reviewed. Analysis was performed among kindreds with the most frequently observed codon mutation (RET 634). Familial MTC disease aggressiveness was evaluated using: (1) mean age at diagnosis of MTC, (2) current mean age of carriers without MTC, (3) proportion of kindred with MTC with metastatic disease at diagnosis, (4) proportion of kindred with MTC with metastasis/death from MTC as worst outcome, and (5) proportion of kindred with disease progression. 170 affected patients from 12 different MEN2A kindreds met inclusion criteria. The number of affected family members available for study per kindred ranged from 8 to 43 individuals. A difference in mean age of MTC diagnosis was found in screened patients (p = 0.01); mean age of MTC-free patients did not differ (p = 0.93). No differences were noted among kindreds in disease stage at presentation, worst outcome, or progression; marked variation in these measures was noted within families. In conclusion, a difference in age of MTC diagnosis among different RET 634 kindreds was identified. In contrast, notable intra-familial variability in disease aggressiveness was observed. Based on these findings, we recommend counseling patients with codon 634 mutations that their MTC disease course cannot be predicted by that of their relatives.
Starting Page	283
Ending Page	289
Page Count	7
File Format	PDF
ISSN	13899600
Journal	Familial Cancer
Volume Number	16
Issue Number	2
e-ISSN	15737292
Language	English
Publisher	Springer Netherlands
Publisher Date	2016-11-18
Publisher Place	Dordrecht
Access Restriction	One Nation One Subscription (ONOS)
Subject Keyword	Medullary thyroid carcinoma Hereditary Multiple endocrine neoplasia 2 Aggressive Family history Cancer Research Human Genetics Epidemiology Biomedicine
Content Type	Text
Resource Type	Article
Subject	Genetics Cancer Research Genetics (clinical) Oncology

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All in the family? Analyzing the impact of family history in addition to genotype on medullary thyroid carcinoma aggressiveness in MEN2A patients

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All in the family? Analyzing the impact of family history in addition to genotype on medullary thyroid carcinoma aggressiveness in MEN2A patients