Full Text:   <1638>

CLC number: R737.9

On-line Access: 2008-01-06

Received: 2007-12-08

Revision Accepted: 2007-12-13

Crosschecked: 0000-00-00

Cited: 9

Clicked: 3868

Citations:  Bibtex RefMan EndNote GB/T7714

-   Go to

Article info.
1. Reference List
Open peer comments

Journal of Zhejiang University SCIENCE B 2008 Vol.9 No.2 P.85~89


BRCA1/2 associated hereditary breast cancer

Author(s):  Li-song TENG, Yi ZHENG, Hao-hao WANG

Affiliation(s):  Cancer Center, the First Affiliated Hospital, School of Medicine, Zhejiang University, Hangzhou 310003, China

Corresponding email(s):   lsteng@zju.edu.cn

Key Words:  BRCA1, BRCA2, Hereditary breast cancer

Share this article to: More |Next Article >>>

Li-song TENG, Yi ZHENG, Hao-hao WANG. BRCA1/2 associated hereditary breast cancer[J]. Journal of Zhejiang University Science B, 2008, 9(2): 85~89.

@article{title="BRCA1/2 associated hereditary breast cancer",
author="Li-song TENG, Yi ZHENG, Hao-hao WANG",
journal="Journal of Zhejiang University Science B",
publisher="Zhejiang University Press & Springer",

%0 Journal Article
%T BRCA1/2 associated hereditary breast cancer
%A Li-song TENG
%A Hao-hao WANG
%J Journal of Zhejiang University SCIENCE B
%V 9
%N 2
%P 85~89
%@ 1673-1581
%D 2008
%I Zhejiang University Press & Springer
%DOI 10.1631/jzus.B0710617

T1 - BRCA1/2 associated hereditary breast cancer
A1 - Li-song TENG
A1 - Hao-hao WANG
J0 - Journal of Zhejiang University Science B
VL - 9
IS - 2
SP - 85
EP - 89
%@ 1673-1581
Y1 - 2008
PB - Zhejiang University Press & Springer
ER -
DOI - 10.1631/jzus.B0710617

Breast cancer is one of the leading causes of death in women today. Some of the patients are hereditary, with a large proportion characterized by mutation in BRCA1 and/or BRCA2 genes. In this review, we provide an overview of these two genes, focusing on their relationship with hereditary breast cancers. BRCA1/2 associated hereditary breast cancers have unique features that differ from the general breast cancers, including alterations in cellular molecules, pathological bases, biological behavior, and a different prevention strategy. But the outcome of BRCA1/2 associated hereditary breast cancers still remains controversial; further studies are needed to elucidate the nature of BRCA1/2 associated hereditary breast cancers.

Darkslateblue:Affiliate; Royal Blue:Author; Turquoise:Article


[1] Abeliovich, D., Kaduri, L., Lerer, I., Weinberg, N., Amir, G., Sagi, M., Zlotogora, J., Heching, N., Peretz, T., 1997. The founder mutations 185delAG and 5382insC in BRCA1 and 6174delT in BRCA2 appear in 60% of ovarian cancer and 30% of early-on-set breast cancer patients among Ashkenazi women. Am. J. Hum. Genet., 60(3):505-514.

[2] American Cancer Society, 2007. Cancer Facts and Figures. p.3-9. Http://www.cancer.org/docroot/STT/content/STT_1x_Cancer_Facts__Figures_2007.asp

[3] Breast Cancer Linkage Consortium, 1997. Pathology of familial breast cancer: Differences between breast cancers in carriers of BRCA1 or BRCA2 mutations and sporadic cases. Lancet, 349(9064):1505-1510.

[4] Brekelmans, C.T.M., Seynaeve, C., Menke-Pluymers, M., Brüggenwirth, H.T., Tilanus-Linthorst, M.M.A., Bartels, C.C.M., Kriege, M., van Geel, A.N., Crepin, C.M.G., Blom, J.C., et al., 2006. Survival and prognostic factors in BRCA1-associated breast cancer. Ann. Oncol., 17(3):391-400.

[5] Chen, J.J., Silver, D., Cantor, S., Livingston, D.M., Scully, R., 1999. BRCA1, BRCA2, and Rad51 operate in a common DNA damage response pathway. Cancer Res., 59(7 Suppl.):1752-1756.

[6] Claus, E.B., Schildkraut, J.M., Thompson, W.D., Risch, N.J., 1996. The genetic attributable risk of breast and ovarian cancer. Cancer, 77(11):2318-2324.

[7] Cortez, D., Wang, Y., Qin, J., Elledge, S.J., 1999. Requirement of ATM-dependent phosphorylation of BRCA1 in the DNA damage response to double-strand breaks. Science, 286(5442):1162-1166.

[8] Easton, D.F., Bishop, D.T., Ford, D., Crockford, G.P., 1993. Genetic linkage analysis in familial breast and ovarian cancer: Results from 214 families. The Breast Cancer Linkage Consortium. Am. J. Hum. Genet., 52(4):678-701.

[9] Einbeigi, Z., Bergman, A., Kindblom, L.G., Martinsson, T., Meis-Kindblom, J.M., Nordling, M., Suurküla, M., Wahlström, J., Wallgren, A., Karlsson, P., 2001. A founder mutation of the BRCA1 gene in Western Sweden associated with a high incidence of breast and ovarian cancer. Eur. J. Cancer, 37(15):1904-1909.

[10] El-Tamer, M., Russo, D., Troxel, A., Bernardino, L.P., Mazziotta, R., Estabrook, A., Ditkoff, B., Schnabel, F., Mansukhani, M., 2004. Survival and recurrence after breast cancer in BRCA1/2 mutation carriers. Ann. Surg. Oncol., 11(2):157-164.

[11] Foulkes, W.D., Stefansson, I.M., Chappuis, P.O., Begin, L.R., Goffin, J.R., Wong, N., Trudel, M., Akslen, L.A., 2003. Germline BRCA1 mutations and a basal epithelial phenotype in breast cancer. J. Natl. Cancer Inst., 95(19):1482-1485.

[12] Geiger, A.M., Nekhlyudov, L., Herrinton, L.J., Rolnick, S.J., Greene, S.M., West, C.N., Harris, E.L., Elmore, J.G., Altschuler, A., Liu, I.L., et al., 2007. Quality of life after bilateral prophylactic mastectomy. Ann. Surg. Oncol., 14(2):686-694.

[13] Hall, J.M., Lee, M.K., Newman, B., Morrow, J.E., Anderson, L.A., Huey, B., King, M.C., 1990. Linkage of early-onset familial breast cancer to chromosome 17q21. Science, 250(4988):1684-1689.

[14] Hashizume, R., Fukuda, I., Maeda, H., Nishikawa, H., Oyake, D., Yabuki, Y., Ogata, H., Ohta, T., 2001. The RING heterodimer BRCA1-BARD1 is a ubiquitin ligase inactivated by a breast cancer-derived mutation. J. Biol. Chem., 276(18):14537-14540.

[15] Honrado, E., Benítez, J., Palacios, J., 2005. The molecular pathology of hereditary breast cancer: Genetic testing and therapeutic implications. Mod. Pathol., 18(10):1305-1320.

[16] King, M.C., Wieand, S., Hale, K., Lee, M., Walsh, T., Owens, K., Tait, J., Ford, L., Dunn, B.K., Costantino, J., et al., 2001. Tamoxifen and breast cancer incidence among women with inherited mutations in BRCA1 and BRCA2: National Surgical Adjuvant Breast and Bowel Project (NSABP-P1) Breast Cancer Prevention Trial. JAMA, 286(18):2251-2256.

[17] Lakhani, S.R., Jacquemier, J., Sloane, J.P., Gusterson, B.A., Anderson, T.J., Vijver, M.J., Farid, L.M., Venter, D., Antoniou, A., Storfer-Isser, A., et al., 1998. Multifactorial analysis of differences between sporadic breast cancers and cancers involving BRCA1 and BRCA2 mutations. J. Natl. Cancer Inst., 90(15):1138-1145.

[18] Lakhani, S.R., van de Vijver, M.J., Jacquemier, J., Anderson, T.J., Osin, P.P., McGuffog, L., Easton, D.F., 2002. The pathology of familial breast cancer: Predictive value of immunohistochemical markers estrogen receptor, progesterone receptor, HER-2, and p53 in patients with mutations in BRCA1 and BRCA2. J. Clin. Oncol., 20(9):2310-2318.

[19] Lou, Z., Chini, C.C., Minter-Dykhouse, K., Chen, J., 2003. Mediator of DNA damage checkpoint protein 1 regulates BRCA1 localization and phosphorylation in DNA damage checkpoint control. J. Biol. Chem., 278(16):13599-13602.

[20] Meijers-Heijboer, H., van Geel, B., van Putten, W.L.J., Henzen-Logmans, S.C., Seynaeve, C., Menke-Pluymers, M.B., Bartels, C.C., Verhoog, L.C., van den Ouweland, A.M.W., Niermeijer, M.F., et al., 2001. Breast cancer after prophylactic bilateral mastectomy in women with a BRCA1 or BRCA2 mutation. N. Engl. J. Med., 345(3):159-164.

[21] Miki, Y., Swensen, J., Shattuck-Eidens, D., Futreal, P.A., Harshman, K., 1994. A strong candidate for the breast and ovarian cancer susceptibility gene BRCA1. Science, 266(5182):66-71.

[22] Moller, P., Evans, D.G., Reis, M.M., Gregory, H., Anderson, E., Maehle, L., Lalloo, F., Howell, A., Apold, J., Clark, N., et al., 2007. Surveillance for familial breast cancer: Differences in outcome according to BRCA mutation status. Int. J. Cancer, 121(5):1017-1020.

[23] Narod, S.A., 2002. Modifiers of risk of hereditary breast and ovarian cancer. Nat. Rev. Cancer, 2(2):113-123.

[24] Narod, S.A., Brunet, J.S., Ghadirian, P., Robson, M., Heimdal, K., Neuhausen, S.L., Stoppa-Lyonnet, D., Lerman, C., Pasini, B., Rios, P., et al., 2000. Tamoxifen and risk of contralateral breast cancer in BRCA1 and BRCA2 mutation carriers: A case-control study. Lancet, 356(9245):1876-1881.

[25] Perou, C.M., Sorlie, T., Eisen, M.B., Rijn, M., Jeffrey, S.S., Rees, C.A., Pollack, J.R., Ross, D.T., Johnsen, H., Akslen, L.A., et al., 2000. Molecular portraits of human breast tumours. Nature, 406(6797):747-752.

[26] Rennert, G., Bisland-Naggan, S., Barnett-Griness, O., Bar-Joseph, N., Zhang, S., Rennert, H.S., Narod, S.A., 2007. Clinical outcomes of breast cancer in carriers of BRCA1 and BRCA2 mutations. N. Engl. J. Med., 357:115-123.

[27] Robson, M.E., Chappuis, P.O., Satagopan, J., Wong, N., Boyd, J., Goffin, J.R., Hudis, C., Roberge, D., Norton, L., Bégin, L.R., et al., 2004. A combined analysis of outcome following breast cancer: Differences in survival based on BRCA1/BRCA2 mutation status and administration of adjuvant treatment. Breast Cancer Res., 6(1):R8-R17.

[28] Struewing, J.P., Abeliovich, D., Peretz, T., Avishai, N., Kaback, M.M., Collins, F.S., Brody, L.C., 1995. The carrier frequency of the BRCA1 185delAG mutation is approximately 1 percent in Ashkenazi Jewish individuals. Nat. Genet., 11(2):198-200.

[29] Struewing, J.P., Tarone, R.E., Brody, L.C., Li, F.P., Boice, J.D., 1996. BRCA1 mutations in young women with breast cancer. Lancet, 347(9013):1493.

[30] Syrjakoski, K., Vahteristo, P., Eerola, H., Tamminen, A., Kivinummi, K., Sarantaus, L., Holli, K., Blomqvist, C., Kallioniemi, O.P., Kainu, T., Nevanlinna, H., 2000. Population-based study of BRCA1 and BRCA2 mutations in 1035 unselected Finnish breast cancer patients. J. Natl. Cancer Inst., 92(18):1529-1531.

[31] Tavtigian, S.V., Simard, J., Rommens, J., Couch, F., Shattuck-Eidens, D., Neuhausen, S., Merajver, S., Thorlacius, S., Offit, K., Stoppa-Lyonnet, D., et al., 1996. The complete BRCA2 gene and mutations in chromosome 13q linked kindreds. Nat. Genet., 12(3):333-337.

[32] Tirkkonen, M., Johannsson, O., Agnarsson, B.A., Olsson, H., Ingvarsson, S., Karhu, R., Tanner, M., Isola, J., Barkardottir, R.B., Borg, A., et al., 1997. Distinct somatic genetic changes associated with tumor progression in carriers of BRCA1 and BRCA2 germ-line mutations. Cancer Res., 57(7):1222-1227.

[33] Uyei, A., Peterson, S.K., Erlichman, J., Broglio, K., Yekell, S., Schmeler, K., Lu, K., Meric-Bernstam, F., Amos, C., Strong, L., et al., 2006. Association between clinical characteristics and risk-reduction interventions in women who underwent BRCA1 and BRCA2 testing: A single-institution study. Cancer, 107(12):2745-2751.

[34] Wooster, R., Bignell, G., Lancaster, J., Swift, S., Seal, S., Mangion, J., Collins, N., Gregory, S., Gumbs, C., Micklem, G., 1995. Identification of the breast cancer susceptibility gene BRCA2. Nature, 378(6559):789-792.

[35] Yu, V., Koehler, M., Steinlein, C., Schmid, M., Hanakahi, L. A., van Gool, A.J., West, S.C., Venkitaraman, A.R., 2000. Gross chromosomal rearrangements and genetic exchange between nonhomologous chromosomes following BRCA2 inactivation. Genes. Dev., 14(11):1400-1406.

[36] Zelada-Hedman, M., Arver, B.W., Claro, A., Chen, J., Werelius, B., Kok, H., Sandelin, K., Håkansson, S., Andersen, T.I., Borg, A., et al., 1997. A screening for BRCA1 mutations in breast and breast-ovarian cancer families from the Stockholm region. Cancer Res., 57(12):2474-2477.

Open peer comments: Debate/Discuss/Question/Opinion


Please provide your name, email address and a comment

Journal of Zhejiang University-SCIENCE, 38 Zheda Road, Hangzhou 310027, China
Tel: +86-571-87952783; E-mail: cjzhang@zju.edu.cn
Copyright © 2000 - Journal of Zhejiang University-SCIENCE