| MASCIARI, S., A. DEWANWALA, Elena M. STOFFEL, Gregory Y. LAUWERS, Hui ZHENG, Maria Isabel ACHATZ, Douglas RIEGERT-JOHNSON, Lenka FORETOVÁ, Edaise M. SILVA, Lisa DIGIANNI, Sigitas VERSELIS, Katherine SCHNEIDER, Frederick P. LI, Joseph FRAUMENI, Judy GARBER a Sapna SYNGAL. Gastric cancer in individuals with Li-Fraumeni syndrome. Genetics In Medicine. United States: Lippincott, Williams & Wilkins, 2011, roč. 13, č. 7, s. 651-657. ISSN 1098-3600. Dostupné z: https://dx.doi.org/10.1097/GIM.0b013e31821628b6. |
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@article{969159,
author = {Masciari, S. and Dewanwala, A. and Stoffel, Elena M. and Lauwers, Gregory Y. and Zheng, Hui and Achatz, Maria Isabel and RiegertandJohnson, Douglas and Foretová, Lenka and Silva, Edaise M. and Digianni, Lisa and Verselis, Sigitas and Schneider, Katherine and Li, Frederick P. and Fraumeni, Joseph and Garber, Judy and Syngal, Sapna},
article_location = {United States},
article_number = {7},
doi = {http://dx.doi.org/10.1097/GIM.0b013e31821628b6},
keywords = {Li Fraumeni syndrome; gastric cancer; hereditary gastric cancer syndromes; germline mutations; TP53},
language = {eng},
issn = {1098-3600},
journal = {Genetics In Medicine},
title = {Gastric cancer in individuals with Li-Fraumeni syndrome},
volume = {13},
year = {2011}
}
TY - JOUR
ID - 969159
AU - Masciari, S. - Dewanwala, A. - Stoffel, Elena M. - Lauwers, Gregory Y. - Zheng, Hui - Achatz, Maria Isabel - Riegert-Johnson, Douglas - Foretová, Lenka - Silva, Edaise M. - Digianni, Lisa - Verselis, Sigitas - Schneider, Katherine - Li, Frederick P. - Fraumeni, Joseph - Garber, Judy - Syngal, Sapna
PY - 2011
TI - Gastric cancer in individuals with Li-Fraumeni syndrome
JF - Genetics In Medicine
VL - 13
IS - 7
SP - 651-657
EP - 651-657
PB - Lippincott, Williams & Wilkins
SN - 10983600
KW - Li Fraumeni syndrome
KW - gastric cancer
KW - hereditary gastric cancer syndromes
KW - germline mutations
KW - TP53
N2 - Li-Fraumeni syndrome is a rare hereditary cancer syndrome associated with germline mutations in the TP53 gene. Although sarcomas, brain tumors, leukemias, breast and adrenal cortical carcinomas are typically recognized as Li-Fraumeni syndrome-associated tumors, the occurrence of gastrointestinal neoplasms has not been fully evaluated. In this analysis, we investigated the frequency and characteristics of gastric cancer in Li-Fraumeni syndrome. Methods: Pedigrees and medical records of 62 TP53 mutation-positive families were retrospectively reviewed from the Dana-Farber/National Cancer Institute Li-Fraumeni syndrome registry. We identified subjects with gastric cancer documented either by pathology report or death certificate and performed pathology review of the available specimens. Results: Among 62 TP53 mutation-positive families, there were 429 cancer-affected individuals. Gastric cancer was the diagnosis in the lineages of 21 (4.9%) subjects from 14 families (22.6%). The mean and median ages at gastric cancer diagnosis were 43 and 36 years, respectively (range: 24-74 years), significantly younger compared with the median age at diagnosis in the general population based on Surveillance Epidemiology and End Results data (71 years). Five (8.1%) families reported two or more cases of gastric cancer, and six (9.7%) families had cases of both colorectal and gastric cancers. No association was seen between phenotype and type/location of the TP53 mutations. Pathology review of the available tumors revealed both intestinal and diffuse histologies. Conclusions: Early-onset gastric cancer seems to be a component of Li-Fraumeni syndrome, suggesting the need for early and regular endoscopic screening in individuals with germline TP53 mutations, particularly among those with a family history of gastric cancer
ER -
MASCIARI, S., A. DEWANWALA, Elena M. STOFFEL, Gregory Y. LAUWERS, Hui ZHENG, Maria Isabel ACHATZ, Douglas RIEGERT-JOHNSON, Lenka FORETOVÁ, Edaise M. SILVA, Lisa DIGIANNI, Sigitas VERSELIS, Katherine SCHNEIDER, Frederick P. LI, Joseph FRAUMENI, Judy GARBER a Sapna SYNGAL. Gastric cancer in individuals with Li-Fraumeni syndrome. \textit{Genetics In Medicine}. United States: Lippincott, Williams \&{} Wilkins, 2011, roč.~13, č.~7, s.~651-657. ISSN~1098-3600. Dostupné z: https://dx.doi.org/10.1097/GIM.0b013e31821628b6.
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