HBOC syndrome with an uncharacterized variant in the BRCA1 gene in a patient diagnosed with endometrial cancer after surgery for bilateral breast cancer: A case report

被引：0

作者：

Mabuchi, Yasushi ^{[1
]}

Hamano, Yuta ^{[2
]}

Minami, Sawako ^{[1
]}

Ota, Nami ^{[1
]}

Ino, Kazuhiko ^{[1
]}

机构：

[1] Wakayama Med Univ, Sch Med, Dept Obstet & Gynecol, 811-1 Kimiidera, Wakayama, Wakayama 6410012, Japan

[2] Wakayama Med Univ, Sch Med, Dept Clin Genet, Wakayama, Wakayama 6410012, Japan

来源：

ONCOLOGY LETTERS | 2022年 / 24卷 / 03期

关键词：

BRCA; hereditary breast and ovarian cancer syndrome; endometrial cancer; variant; breast cancer; MUTATIONS; WOMEN; PREVALENCE;

D O I：

10.3892/ol.2022.13445

中图分类号：

R73 [肿瘤学];

学科分类号：

100214 ;

摘要：

The association between endometrial cancer and the BRCA1 and BRCA2 genes is not fully understood, and the risk elevation of endometrial cancer in patients with hereditary breast and ovarian cancer (HBOC) is not understood. The present report examines a rare case of HBOC syndrome and an uncharacterized variant of the BRCA1 gene in a patient diagnosed with endometrial cancer. A 46-year-old woman, gravida 1 para 1, was referred to Wakayama Medical University Hospital (Wakayama, Japan) because positron emission tomography/computed tomography (PET/CT) showed a high FDG uptake in the corpus uteri and the left ovary. PET/CT was performed just after mastectomy for left-sided breast cancer (triple negative). The patient had previously undergone partial mastectomy for right-sided breast cancer (triple negative) and was treated with radiation therapy to the right residual breast when she was 39 years old. Laparoscopic hysterectomy and bilateral adnexectomy were performed, and the histological diagnosis was endometrioid carcinoma, grade 1. Her germline BRCA status was tested by blood examination and the result was 'NM_007294.4(BRCA1):c.49G>C (p.Ala17Pro)'. The variant was evaluated as 'likely pathogenic'. The patient was diagnosed with HBOC syndrome and endometrial cancer, pT1ANxM0. The patient had no recurrence of breast or endometrial cancer 16 months after gynecologic surgery.

引用

页数：4

共 11 条

[1]

[Anonymous], Dictionary of cancer terms

[2] Ovarian cancer today and tomorrow: A global assessment by world region and Human Development Index using GLOBOCAN 2020 [J].

Cabasag, Citadel J. ;

Fagan, Paula J. ;

Ferlay, Jacques ;

Vignat, Jerome ;

Laversanne, Mathieu ;

Liu, Lihua ;

Aa, Maaike A. ;

Bray, Freddie ;

Soerjomataram, Isabelle .

INTERNATIONAL JOURNAL OF CANCER, 2022, 151 (09) :1535-1541

[3] Germline BRCA-Associated Endometrial Carcinoma Is a Distinct Clinicopathologic Entity [J].

de Jonge, Marthe M. ;

Ritterhouse, Lauren L. ;

de Kroon, Cornelis D. ;

Vreeswijk, Maaike P. G. ;

Segal, Jeremy P. ;

Puranik, Rutika ;

Rookus, M. A. ;

Hogervorst, F. B. L. ;

van Leeuwen, F. E. ;

Adank, M. A. ;

Schmidt, M. K. ;

Jenner, D. J. ;

Collee, J. M. ;

van den Ouweland, A. M. W. ;

Hooning, M. J. ;

Boere, I. A. ;

van Asperen, C. J. ;

Devilee, P. ;

van der Luijt, R. B. ;

van Cronenburg, T. C. T. E. F. ;

Wevers, M. R. ;

Mensenkamp, A. R. ;

Ausems, M. G. E. M. ;

Koudijs, M. J. ;

Meijers-Heijboer, H. E. J. ;

van Os, T. A. M. ;

van Engelen, K. ;

Gille, J. J. P. ;

Gomez-Garcia, E. B. ;

Blok, M. J. ;

de Boer, M. ;

Oosterwijk, J. C. ;

van der Hout, A. H. ;

Mourits, M. J. ;

de Bock, G. H. ;

Siesling, S. ;

Verloop, J. ;

van den Broek, E. C. ;

Hollema, Harry ;

Smit, Vincent T. H. B. M. ;

Howitt, Brooke E. ;

Bosse, Tjalling .

CLINICAL CANCER RESEARCH, 2019, 25 (24) :7517-7526

[4] Performance of in silico prediction tools for the classification of rare BRCA1/2 missense variants in clinical diagnostics [J].

Ernst, Corinna ;

Hahnen, Eric ;

Engel, Christoph ;

Nothnagel, Michael ;

Weber, Jonas ;

Schmutzler, Rita K. ;

Hauke, Jan .

BMC MEDICAL GENOMICS, 2018, 11

[5] Accurate classification of BRCA1 variants with saturation genome editing [J].

Findlay, Gregory M. ;

Daza, Riza M. ;

Martin, Beth ;

Zhang, Melissa D. ;

Leith, Anh P. ;

Gasperini, Molly ;

Janizek, Joseph D. ;

Huang, Xingfan ;

Starita, Lea M. ;

Shendure, Jay .

NATURE, 2018, 562 (7726) :217-+

[6] Global patterns of breast cancer incidence and mortality: A population-based cancer registry data analysis from 2000 to 2020 [J].

Lei, Shaoyuan ;

Zheng, Rongshou ;

Zhang, Siwei ;

Wang, Shaoming ;

Chen, Ru ;

Sun, Kexin ;

Zeng, Hongmei ;

Zhou, Jiachen ;

Wei, Wenqiang .

CANCER COMMUNICATIONS, 2021, 41 (11) :1183-1194

[7] Prevalence and predictors of BRCA1 and BRCA2 mutations in a population-based study of breast cancer in white and black American women ages 35 to 64 years [J].

Malone, Kathleen E. ;

Daling, Janet R. ;

Doody, David R. ;

Hsu, Li ;

Bernstein, Leslie ;

Coates, Ralph J. ;

Marchbanks, Polly A. ;

Simon, Michael S. ;

McDonald, Jill A. ;

Norman, Sandra A. ;

Strom, Brian L. ;

Burkman, Ronald T. ;

Ursin, Giske ;

Deapen, Dennis ;

Weiss, Linda K. ;

Folger, Suzanne ;

Madeoy, Jennifer J. ;

Friedrichsen, Danielle M. ;

Suter, Nicola M. ;

Humphrey, Mariela C. ;

Spirtas, Robert ;

Ostrander, Elaine A. .

CANCER RESEARCH, 2006, 66 (16) :8297-8308

[8] Inherited Mutations in Women With Ovarian Carcinoma [J].

Norquist, Barbara M. ;

Harrell, Maria I. ;

Brady, Mark F. ;

Walsh, Tom ;

Lee, Ming K. ;

Gulsuner, Suleyman ;

Bernards, Sarah S. ;

Casadei, Silvia ;

Yi, Qian ;

Burger, Robert A. ;

Chan, John K. ;

Davidson, Susan A. ;

Mannel, Robert S. ;

DiSilvestro, Paul A. ;

Lankes, Heather A. ;

Ramirez, Nilsa C. ;

King, Mary Claire ;

Swisher, Elizabeth M. ;

Birrer, Michael J. .

JAMA ONCOLOGY, 2016, 2 (04) :482-490

[9] The incidence of endometrial cancer in women with BRCA1 and BRCA2 mutations: An international prospective cohort study [J].

Segev, Yakir ;

Iqbal, Javaid ;

Lubinski, Jan ;

Gronwald, Jacek ;

Lynch, Henry T. ;

Moller, Pal ;

Ghadirian, Parviz ;

Rosen, Barry ;

Tung, Nadine ;

Kim-Sing, Charmaine ;

Foulkes, William D. ;

Neuhausen, Susan L. ;

Senter, Leigha ;

Singer, Christian F. ;

Karlan, Beth ;

Ping, Sun ;

Narod, Steven A. .

GYNECOLOGIC ONCOLOGY, 2013, 130 (01) :127-131

[10]

Shao FP, 2021, AGING-US, V13, P8975, DOI 10.18632/aging.202724

← 1 2 →