BRIP-1 germline mutation and its role in colon cancer: presentation of two case reports and review of literature

被引：21

作者：

Ali, Mir ^{[1
]}

Delozier, Celia Dawn ^{[1
]}

Chaudhary, Uzair ^{[1
]}

机构：

[1] Univ Calif Fresno, San Francisco Fresno UCSF Fresno, 155 N Fresno St, Fresno, CA 93701 USA

来源：

BMC MEDICAL GENETICS | 2019年 / 20卷

关键词：

Colorectal Cancer; Germline mutation; BRIP1; gene; Case report; HEREDITARY; GENES; RISK;

D O I：

10.1186/s12881-019-0812-0

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

BackgroundHereditary colon cancer is characterized by the inheritance of an abnormal gene mutation which predisposes to malignancy. Recent advances in genomic medicine have identified mutations in novel genes as conferring an increased risk of colorectal cancer. Mutations in the BRIP1 gene (BRCA1 Interacting Protein C- terminal helicase 1) are known to increase the risk of ovarian and breast cancers, but this genes association with colon cancer has not been previously reported.Case presentationWe describe two patients with colon cancer whose tumor tissue were found to harbor BRIP1 mutations on analysis by next-generation sequencing. These patients were confirmed by analysis of lymphocytes to carry the mutation in the germline as well.ConclusionsThese case reports highlight a previously unreported association of BRIP1 germline mutations with colon cancer predisposition.

引用

页数：5

共 10 条

[1] Hereditary and Familial Colon Cancer [J].

Jasperson, Kory W. ;

Tuohy, Therese M. ;

Neklason, Deborah W. ;

Burt, Randall W. .

GASTROENTEROLOGY, 2010, 138 (06) :2044-2058

[2] Genomic medicine - Hereditary colorectal cancer [J].

Lynch, HT ;

de la Chapelle, A .

NEW ENGLAND JOURNAL OF MEDICINE, 2003, 348 (10) :919-932

[3] Application of next-generation sequencing in gastrointestinal and liver tumors [J].

Mikhail, Sameh ;

Faltas, Bishoy ;

Salem, Mohamed E. ;

Bekaii-Saab, Tanios .

CANCER LETTERS, 2016, 374 (02) :187-191

[4] Comprehensive molecular characterization of human colon and rectal cancer [J].

Muzny, Donna M. ;

Bainbridge, Matthew N. ;

Chang, Kyle ;

Dinh, Huyen H. ;

Drummond, Jennifer A. ;

Fowler, Gerald ;

Kovar, Christie L. ;

Lewis, Lora R. ;

Morgan, Margaret B. ;

Newsham, Irene F. ;

Reid, Jeffrey G. ;

Santibanez, Jireh ;

Shinbrot, Eve ;

Trevino, Lisa R. ;

Wu, Yuan-Qing ;

Wang, Min ;

Gunaratne, Preethi ;

Donehower, Lawrence A. ;

Creighton, Chad J. ;

Wheeler, David A. ;

Gibbs, Richard A. ;

Lawrence, Michael S. ;

Voet, Douglas ;

Jing, Rui ;

Cibulskis, Kristian ;

Sivachenko, Andrey ;

Stojanov, Petar ;

McKenna, Aaron ;

Lander, Eric S. ;

Gabriel, Stacey ;

Getz, Gad ;

Ding, Li ;

Fulton, Robert S. ;

Koboldt, Daniel C. ;

Wylie, Todd ;

Walker, Jason ;

Dooling, David J. ;

Fulton, Lucinda ;

Delehaunty, Kim D. ;

Fronick, Catrina C. ;

Demeter, Ryan ;

Mardis, Elaine R. ;

Wilson, Richard K. ;

Chu, Andy ;

Chun, Hye-Jung E. ;

Mungall, Andrew J. ;

Pleasance, Erin ;

Robertson, A. Gordon ;

Stoll, Dominik ;

Balasundaram, Miruna .

NATURE, 2012, 487 (7407) :330-337

[5] Clinical germline diagnostic exome sequencing for hereditary cancer: Findings within novel candidate genes are prevalent [J].

Powis, Zoe ;

Espenschied, Carin R. ;

LaDuca, Holly ;

Hagman, Kelly D. ;

Paudyal, Tripti ;

Li, Shuwei ;

Inaba, Hiroto ;

Mauer, Ann ;

Nathanson, Katherine L. ;

Knost, James ;

Chao, Elizabeth C. ;

Tang, Sha .

CANCER GENETICS, 2018, 224 :12-20

[6] Mutations in BRIP1 confer high risk of ovarian cancer [J].

Rafnar, Thorunn ;

Gudbjartsson, Daniel F. ;

Sulem, Patrick ;

Jonasdottir, Aslaug ;

Sigurdsson, Asgeir ;

Jonasdottir, Adalbjorg ;

Besenbacher, Soren ;

Lundin, Par ;

Stacey, Simon N. ;

Gudmundsson, Julius ;

Magnusson, Olafur T. ;

le Roux, Louise ;

Orlygsdottir, Gudbjorg ;

Helgadottir, Hafdis T. ;

Johannsdottir, Hrefna ;

Gylfason, Arnaldur ;

Tryggvadottir, Laufey ;

Jonasson, Jon G. ;

de Juan, Ana ;

Ortega, Eugenia ;

Ramon-Cajal, Jose M. ;

Garcia-Prats, Maria D. ;

Mayordomo, Carlos ;

Panadero, Angeles ;

Rivera, Fernando ;

Aben, Katja K. H. ;

van Altena, Anne M. ;

Massuger, Leon F. A. G. ;

Aavikko, Mervi ;

Kujala, Paula M. ;

Staff, Synnove ;

Aaltonen, Lauri A. ;

Olafsdottir, Kristrun ;

Bjornsson, Johannes ;

Kong, Augustine ;

Salvarsdottir, Anna ;

Saemundsson, Hafsteinn ;

Olafsson, Karl ;

Benediktsdottir, Kristrun R. ;

Gulcher, Jeffrey ;

Masson, Gisli ;

Kiemeney, Lambertus A. ;

Mayordomo, Jose I. ;

Thorsteinsdottir, Unnur ;

Stefansson, Kari .

NATURE GENETICS, 2011, 43 (11) :1104-U91

[7]

Ramus SJ, 2017, JNCI-J NATL CANCER I, V11, P107

[8] Inherited Mutations in Breast Cancer Genes-Risk and Response [J].

Shuen, Andrew Y. ;

Foulkes, William D. .

JOURNAL OF MAMMARY GLAND BIOLOGY AND NEOPLASIA, 2011, 16 (01) :3-15

[9] Counselling framework for moderate-penetrance cancer-susceptibility mutations [J].

Tung, Nadine ;

Domchek, Susan M. ;

Stadler, Zsofia ;

Nathanson, Katherine L. ;

Couch, Fergus ;

Garber, Judy E. ;

Offit, Kenneth ;

Robson, Mark E. .

NATURE REVIEWS CLINICAL ONCOLOGY, 2016, 13 (09) :581-588

[10] A molecular signature for the prediction of recurrence in colorectal cancer [J].

Wang, Lisha ;

Shen, Xiaohan ;

Wang, Zhimin ;

Xiao, Xiuying ;

Wei, Ping ;

Wang, Qifeng ;

Ren, Fei ;

Wang, Yiqin ;

Liu, Zebing ;

Sheng, Weiqi ;

Huang, Wei ;

Zhou, Xiaoyan ;

Du, Xiang .

MOLECULAR CANCER, 2015, 14

← 1 →