PALB2 mutation in a woman with bilateral breast cancer: A case report

Nakagomi,Hiroshi; Hirotsu,Yosuke; Okimoto,Kenichiro; Sakamoto,Ikuko; Amemiya,Kenji; Nakagomi,Satoko; Kubota,Takeo; Mochizuki,Hitoshi; Omata,Masao

doi:10.3892/mco.2017.1189

April-2017 Volume 6 Issue 4

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April-2017 Volume 6 Issue 4

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Case Report

PALB2 mutation in a woman with bilateral breast cancer: A case report

Authors:
- Hiroshi Nakagomi
- Yosuke Hirotsu
- Kenichiro Okimoto
- Ikuko Sakamoto
- Kenji Amemiya
- Satoko Nakagomi
- Takeo Kubota
- Hitoshi Mochizuki
- Masao Omata
View Affiliations / Copyright

Affiliations: Department of Breast Surgery, Yamanashi Prefectural Central Hospital, Kofu, Yamanashi 400‑8506, Japan, Genome Analysis Center, Yamanashi Prefectural Central Hospital, Kofu, Yamanashi 400‑8506, Japan, Department of Gynecology, Yamanashi Prefectural Central Hospital, Kofu, Yamanashi 400‑8506, Japan, Graduate School of Interdisciplinary Research, University of Yamanashi, Kofu, Yamanashi 400‑8511, Japan, Yamanashi Prefecture Red Cross Blood Center, Japanese Red Cross Society, Kofu, Yamanashi 409‑3898, Japan
Pages: 556-560
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Published online on: March 9, 2017

https://doi.org/10.3892/mco.2017.1189
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Abstract

Partner and localizer of breast cancer 2 (PALB2) was identified as a moderate‑risk gene of breast and pancreas cancer. The present authors previously reported that no PALB2 germline mutations with a deleterious frameshift or stop codons were identified in 155 Japanese patients with breast and/or ovarian cancer who were estimated to be at risk of hereditary cancer, according to the National Comprehensive Cancer Network (NCCN) criteria. In the present study, one patient with a deleterious mutation of PALB2 (c. 2834+2 T>C) has been identified from a study of an additional 128 cases. Therefore, the prevalence of PALB2 among Japanese patients is now estimated to be 0.35% (1/283). The proband was a 63‑year‑old woman with bilateral breast cancer, although she had experienced no other cancers. The proband had two elder sisters, the eldest of whom died from pancreatic cancer at 60 years of age. The proband's 40‑year‑old daughter was affected, but did not show any malignancies. There are only a few reports concerning PALB2 mutations in Japan. To the best of our knowledge, this is the first case study to reveal the significance of DNA‑repair genes in the development of malignancies in Japanese patients with breast cancer.

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1	Collaborative Group on Hormonal Factors in Breast Cancer, . Familial breast cancer: Collaborative reanalysis of individual data from 52 epidemiological studies including 58,209 women with breast cancer and 101,986 women without the disease. Lancet. 358:1389–1399. 2001. View Article : Google Scholar : PubMed/NCBI
2	Kim H and Choi DH: Distribution of BRCA1 and BRCA2 mutations in Asian patients with breast cancer. J Breast Cancer. 16:357–365. 2013. View Article : Google Scholar : PubMed/NCBI
3	Melchor L and Benítez J: The complex genetic landscape of familial breast cancer. Hum Genet. 132:845–863. 2013. View Article : Google Scholar : PubMed/NCBI
4	Hirotsu Y, Nakagomi H, Sakamoto I, Amemiya K, Mochizuki H and Omata M: Detection of BRCA1 and BRCA2 germline mutations in Japanese population using next-generation sequencing. Mol Genet Genomic Med. 3:121–129. 2015. View Article : Google Scholar : PubMed/NCBI
5	Sakamoto I, Hirotsu Y, Nakagomi H, Ouchi H, Ikegami A, Teramoto K, Amemiya K, Mochizuki H and Omata M: BRCA1 and BRCA2 mutations in Japanese patients with ovarian, fallopian tube, and primary peritoneal cancer. Cancer. 122:84–90. 2016. View Article : Google Scholar : PubMed/NCBI
6	Tischkowitz M and Xia B: PALB2/FANCN: Recombining cancer and Fanconi anemia. Cancer Res. 70:7353–7359. 2010. View Article : Google Scholar : PubMed/NCBI
7	Antoniou AC, Casadei S, Heikkinen T, Barrowdale D, Pylkäs K, Roberts J, Lee A, Subramanian D, De Leeneer K, Fostira F, et al: Breast-cancer risk in families with mutations in PALB2. N Engl J Med. 371:497–506. 2014. View Article : Google Scholar : PubMed/NCBI
8	Casadei S, Norquist BM, Walsh T, Stray S, Mandell JB, Lee MK, Stamatoyannopoulos JA and King MC: Contribution of inherited mutations in the BRCA2-interacting protein PALB2 to familial breast cancer. Cancer Res. 71:2222–2229. 2011. View Article : Google Scholar : PubMed/NCBI
9	Zheng Y, Zhang J, Niu Q, Huo D and Olopade OI: Novel germline PALB2 truncating mutations in African American breast cancer patients. Cancer. 118:1362–1370. 2012. View Article : Google Scholar : PubMed/NCBI
10	Hartley T, Cavallone L, Sabbaghian N, Silva-Smith R, Hamel N, Aleynikova O, Smith E, Hastings V, Pinto P, Tischkowitz M, et al: Mutation analysis of PALB2 in BRCA1 and BRCA2-negative breast and/or ovarian cancer families from Eastern Ontario, Canada. Hered Cancer Clin Pract. 12:192014. View Article : Google Scholar : PubMed/NCBI
11	Rahman N, Seal S, Thompson D, Kelly P, Renwick A, Elliott A, Reid S, Spanova K, Barfoot R, Chagtai T, et al: PALB2, which encodes a BRCA2-interacting protein, is a breast cancer susceptibility gene. Nat Genet. 39:165–167. 2007. View Article : Google Scholar : PubMed/NCBI
12	Bogdanova N, Sokolenko AP, Iyevleva AG, Abysheva SN, Blaut M, Bremer M, Christiansen H, Rave-Fränk M, Dörk T and Imyanitov EN: PALB2 mutations in German and Russian patients with bilateral breast cancer. Breast Cancer Res Treat. 126:545–550. 2011. View Article : Google Scholar : PubMed/NCBI
13	Catucci I, Peterlongo P, Ciceri S, Colombo M, Pasquini G, Barile M, Bonanni B, Verderio P, Pizzamiglio S, Foglia C, et al: PALB2 sequencing in Italian familial breast cancer cases reveals a high-risk mutation recurrent in the province of Bergamo. Genet Med. 16:688–694. 2014. View Article : Google Scholar : PubMed/NCBI
14	Erkko H, Xia B, Nikkilä J, Schleutker J, Syrjäkoski K, Mannermaa A, Kallioniemi A, Pylkäs K, Karppinen SM, Rapakko K, et al: A recurrent mutation in PALB2 in Finnish cancer families. Nature. 446:316–319. 2007. View Article : Google Scholar : PubMed/NCBI
15	Blanco A, de la Hoya M, Osorio A, Diez O, Miramar MD, Infante M, Martinez-Bouzas C, Torres A, Lasa A, Llort G, et al: Analysis of PALB2 gene in BRCA1/BRCA2 negative Spanish hereditary breast/ovarian cancer families with pancreatic cancer cases. PLoS One. 8:e675382013. View Article : Google Scholar : PubMed/NCBI
16	Cao W, Wang X and Li JC: Hereditary breast cancer in the Han Chinese population. J Epidemiol. 23:75–84. 2013. View Article : Google Scholar : PubMed/NCBI
17	Kim JH, Choi DH, Cho DY, Ahn SH, Son BH and Haffty BG: PALB2 mutations 1592delT and 229delT are not present in Korean breast cancer patients negative for BRCA1 and BRCA2 mutations. Breast Cancer Res Treat. 122:303–306. 2010. View Article : Google Scholar : PubMed/NCBI
18	Phuah SY, Lee SY, Kang P, Kang IN, Yoon SY, Thong MK, Hartman M, Sng JH, Yip CH, Taib NA and Teo SH: Prevalence of PALB2 mutations in breast cancer patients in multi-ethnic Asian population in Malaysia and Singapore. PLoS One. 8:e736382013. View Article : Google Scholar : PubMed/NCBI
19	Nakagomi H, Sakamoto I, Hirotsu Y, Amemiya K, Mochiduki H and Omata M: Analysis of PALB2 mutations in 155 Japanese patients with breast and/or ovarian cancer. Int J Clin Oncol. 21:270–275. 2016. View Article : Google Scholar : PubMed/NCBI
20	Daltoé RD, Madeira KP, de Carvalho AA, de Rezende LC, Silva IV and Rangel LB: Evaluation of the progesterone receptor status in breast cancer using three different antibodies: A comparison by Allred score system. Int J Clin Exp Pathol. 7:331–339. 2014.PubMed/NCBI
21	Wolff AC, Hammond ME, Schwartz JN, Hagerty KL, Allred DC, Cote RJ, Dowsett M, Fitzgibbons PL, Hanna WM, Langer A, et al: American Society of Clinical Oncology/College of American Pathologists guideline recommendations for human epidermal growth factor receptor 2 testing in breast cancer. J Clin Oncol. 25:118–145. 2007. View Article : Google Scholar : PubMed/NCBI
22	Hirotsu Y, Nakagomi H, Sakamoto I, Amemiya K, Oyama T, Mochizuki H and Omata M: Multigene panel analysis identified germline mutations of DNA repair genes in breast and ovarian cancer. Mol Genet Genomic Med. 3:459–466. 2015. View Article : Google Scholar : PubMed/NCBI
23	Kean S: Breast cancer. The ‘other’ breast cancer genes. Science. 343:1457–1459. 2014. View Article : Google Scholar : PubMed/NCBI
24	Hirotsu Y, Zheng TH, Amemiya K, Mochizuki H, Guleng B and Omata M: Targeted and exome sequencing identified somatic mutations in hepatocellular carcinoma. Hepatol Res. 46:1145–1151. 2016. View Article : Google Scholar : PubMed/NCBI
25	Goto T, Hirotsu Y, Oyama T, Amemiya K and Omata M: Analysis of tumor-derived DNA in plasma and bone marrow fluid in lung cancer patients. Med Oncol. 33:292016. View Article : Google Scholar : PubMed/NCBI
26	Nakada H, Nakagomi H, Hirotsu Y, Amemiya K, Mochizuki H, Inoue M, Oyama T and Omata M: A study of tumor heterogeneity in a case with breast cancer. Breast Cancer. 29–Sep;2016.(Epub ahead of print). View Article : Google Scholar : PubMed/NCBI
27	Amemiya K, Hirotsu Y, Goto T, Nakagomi H, Mochizuki H, Oyama T and Omata M: Touch imprint cytology with massively parallel sequencing (TIC-seq): A simple and rapid method to snapshot genetic alterations in tumors. Cancer Med. 5:3426–3436. 2016. View Article : Google Scholar : PubMed/NCBI
28	Hirotsu Y, Kojima Y, Okimoto K, Amemiya K, Mochizuki H and Omata M: Comparison between two amplicon-based sequencing panels of different scales in the detection of somatic mutations associated with gastric cancer. BMC Genomics. 17:8332016. View Article : Google Scholar : PubMed/NCBI
29	Hirotsu Y, Nakagomi H, Amemiya K, Oyama T, Inoue M, Mochizuki H and Omata M: Intrinsic HER2 V777L mutation mediates resistance to trastuzumab in a breast cancer patient. Med Oncol. 34:32017. View Article : Google Scholar : PubMed/NCBI
30	Nakagomi H, Hirotsu Y, Amemiya K, Nakada H, Inoue M, Mochizuki H, Oyama T and Omata M: Rapid changes in circulating tumor DNA in serially sampled plasma during treatment of breast cancer: A case report. Am J Case Rep. 18:26–32. 2017. View Article : Google Scholar : PubMed/NCBI
31	Goto T, Hirotsu Y, Mochizuki H, Nakagomi T, Oyama T, Amemiya K and Omata M: Stepwise addition of genetic changes correlated with histological change from ‘well-differentiated’ to ‘sarcomatoid’ phenotypes: A case report. BMC Cancer. 17:652017. View Article : Google Scholar : PubMed/NCBI
32	Slater EP, Langer P, Niemczyk E, Strauch K, Butler J, Habbe N, Neoptolemos JP, Greenhalf W and Bartsch DK: PALB2 mutations in European familial pancreatic cancer families. Clin Genet. 78:490–494. 2010. View Article : Google Scholar : PubMed/NCBI
33	Hofstatter EW, Domchek SM, Miron A, Garber J, Wang M, Componeschi K, Boghossian L, Miron PL, Nathanson KL and Tung N: PALB2 mutations in familial breast and pancreatic cancer. Fam Cancer. 10:225–231. 2011. View Article : Google Scholar : PubMed/NCBI
34	Takai E, Yachida S, Shimizu K, Furuse J, Kubo E, Ohmoto A, Suzuki M, Hruban RH, Okusaka T, Morizane C and Furukawa T: Germline mutations in Japanese familial pancreatic cancer patients. Oncotarget. 7:74227–74235. 2016.PubMed/NCBI
35	Sugano K, Nakamura S, Ando J, Takayama S, Kamata H, Sekiguchi I, Ubukata M, Kodama T, Arai M, Kasumi F, et al: Cross-sectional analysis of germline BRCA1 and BRCA2 mutations in Japanese patients suspected to have hereditary breast/ovarian cancer. Cancer Sci. 99:1967–1976. 2008. View Article : Google Scholar : PubMed/NCBI
36	Nakamura S, Takahashi M, Tozaki M, Nakayama T, Nomizu T, Miki Y, Murakami Y, Aoki D, Iwase T, Nishimura S, et al: Prevalence and differentiation of hereditary breast and ovarian cancers in Japan. Breast Cancer. 22:462–468. 2015. View Article : Google Scholar : PubMed/NCBI
37	Lee JM, Ledermann JA and Kohn EC: PARP Inhibitors for BRCA1/2 mutation-associated and BRCA-like malignancies. Ann Oncol. 25:32–40. 2014. View Article : Google Scholar : PubMed/NCBI
38	Ledermann J, Harter P, Gourley C, Friedlander M, Vergote I, Rustin G, Scott CL, Meier W, Shapira-Frommer R, Safra T, et al: Olaparib maintenance therapy in patients with platinum-sensitive relapsed serous ovarian cancer: A preplanned retrospective analysis of outcomes by BRCA status in a randomised phase 2 trial. Lancet Oncol. 15:852–861. 2014. View Article : Google Scholar : PubMed/NCBI
39	Wooster R, Bignell G, Lancaster J, Swift S, Seal S, Mangion J, Collins N, Gregory S, Gumbs C and Micklem G: Identification of the breast cancer susceptibility gene BRCA2. Nature. 378:789–792. 1995. View Article : Google Scholar : PubMed/NCBI