Gastric cancer in individuals with Li-Fraumeni syndrome

J 2011

Gastric cancer in individuals with Li-Fraumeni syndrome

MASCIARI, S.; A. DEWANWALA; Elena M. STOFFEL; Gregory Y. LAUWERS; Hui ZHENG et. al.

Basic information

Original name

Gastric cancer in individuals with Li-Fraumeni syndrome

Authors

MASCIARI, S. (840 United States of America, guarantor); A. DEWANWALA (840 United States of America); Elena M. STOFFEL (840 United States of America); Gregory Y. LAUWERS (840 United States of America); Hui ZHENG (840 United States of America); Maria Isabel ACHATZ (840 United States of America); Douglas RIEGERT-JOHNSON (840 United States of America); Lenka FORETOVÁ (203 Czech Republic, belonging to the institution); Edaise M. SILVA (76 Brazil); Lisa DIGIANNI (840 United States of America); Sigitas VERSELIS (840 United States of America); Katherine SCHNEIDER (840 United States of America); Frederick P. LI (840 United States of America); Joseph FRAUMENI (840 United States of America); Judy GARBER (840 United States of America) and Sapna SYNGAL (840 United States of America)

Edition

Genetics In Medicine, United States, Lippincott, Williams & Wilkins, 2011, 1098-3600

Other information

Language

English

Type of outcome

Article in a journal

Field of Study

30200 3.2 Clinical medicine

Country of publisher

United States of America

Confidentiality degree

is not subject to a state or trade secret

Impact factor

Impact factor: 4.762

RIV identification code

RIV/00216224:14110/11:00055281

Organization unit

Faculty of Medicine

DOI

https://doi.org/10.1097/GIM.0b013e31821628b6

UT WoS

000292538200008

Keywords in English

Li Fraumeni syndrome; gastric cancer; hereditary gastric cancer syndromes; germline mutations; TP53

Abstract

In the original language

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

Cite

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 and Sapna SYNGAL. Gastric cancer in individuals with Li-Fraumeni syndrome. Genetics In Medicine. United States: Lippincott, Williams & Wilkins, 2011, vol. 13, No 7, p. 651-657. ISSN 1098-3600. Available from: https://doi.org/10.1097/GIM.0b013e31821628b6.

@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 = {https://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 and Sapna SYNGAL. Gastric cancer in individuals with Li-Fraumeni syndrome. \textit{Genetics In Medicine}. United States: Lippincott, Williams \&{} Wilkins, 2011, vol.~13, No~7, p.~651-657. ISSN~1098-3600. Available from: https://doi.org/10.1097/GIM.0b013e31821628b6.

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