Effects of BRCA1 and BRCA2 gene mutations on female fertility among Chinese women: A systematic review and meta-analysis

Open Access

Issue		BIO Web Conf. Volume 59, 2023 2023 5^th International Conference on Biotechnology and Biomedicine (ICBB 2023)


Article Number		01008
Number of page(s)		7
Section		Biotechnology and Cell Structure Analysis
DOI		https://doi.org/10.1051/bioconf/20235901008
Published online		08 May 2023

Lv W.J., Chen J.J. (2022) Elderly Education for Active Aging of Empty Nesters: Realistic Dilemmas and Enhancement Strategies. Journal of the College of Adult Education, Hebei University. 24(03): 72–79. [Google Scholar]
Zong X., Qiao J. (2022) Female fertility and its influencing factors. Chinese Journal of Practical Gynecology and Obstetrics. 38(06): 580–585. [Google Scholar]
Shapira M., Raanani H., Feldman B., Srebnik N., Dereck-Haim S., Manela D., Brenghausen M., Geva-Lerner L., Friedman E., Levi-Lahad E., Goldberg D., Perri T., Eldar-Geva T., Meirow D. (2015) BRCA mutation carriers show normal ovarian response in in vitro fertilization cycles. Fertil Steril. 104(5): 1162–1167. [CrossRef] [Google Scholar]
Phillips K.A., Collins I.M., Milne R.L., McLachlan S.A., Friedlander M., Hickey M., Stern C., Hopper J.L., Fisher R., Kannemeyer G., Picken S., Smith C.D., Kelsey T.W., Anderson R.A. (2016) Kathleen Cuningham Consortium for Research into Familial Breast Cancer. Anti-Müllerian hormone serum concentrations of women with germline BRCA1 or BRCA2 mutations. Hum Reprod. 31(5): 1126–11232. [Google Scholar]
Noval B.A. (2016) Potential implications on female fertility and reproductive lifespan in BRCA germline mutation women. Arch Gynecol Obstet. 294(5): 1099–1103. [CrossRef] [PubMed] [Google Scholar]
Broer S.L., Broekmans F.J., Laven J.S., Fauser B.C. (2014) Anti-Müllerian hormone: ovarian reserve testing and its potential clinical implications. Hum Reprod Update. 20(5): 688–701. [CrossRef] [PubMed] [Google Scholar]
Finch A., Valentini A., Greenblatt E., et al. (2013) Frequency of premature menopause in women who carry a BRCA1 or BRCA2 mutation[J]. Fertility & Sterility, 99(6):1724–1728. [CrossRef] [Google Scholar]
Kwong A., Wong L.P., Wong H.N., Law F.B., Ng E.K., Tang Y.H., Chan W.K., Ho L.S., Kwan K.H., Poon M., Wong T.T., Leung F.C., Chan S.W., Ying M.W., Ma E.S., Ford J.M. (2009) A BRCA2 founder mutation and seven novel deleterious BRCA mutations in southern Chinese women with breast and ovarian cancer. Breast Cancer Res Treat. Oct;117(3):683–6. [CrossRef] [PubMed] [Google Scholar]
Wang Y.A., Jian J.W., Hung C.F., Peng H.P., Yang C.F., Cheng H.S., Yang A.S. (2018) Germline breast cancer susceptibility gene mutations and breast cancer outcomes. BMC Cancer. Mar 22;18(1):315. [CrossRef] [Google Scholar]
Wei H., Wang M., Ou J., Jiang W., Tian F., Sheng Y., Li H., Xu H., Zhang R., Guan A., Wang C., Jiang H., Ren Y., He J., Liu J., Huang W., Liao N., Cai X., Ming J., Ling R., Xu Y., Hu C., Zhang J., Guo B., Ouyang L., Shuai P., Liu Z., Zhong L., Jing R., Zeng Z., Zhang M., Zhang T., Xuan Z., Tan X., Liang J., Pan Q., Chen L., Zhang F., Fan L., Zhang Y., Yang X., Li J., Chen C., Jiang J. (2018) Multicenter cross-sectional screening of the BRCA gene for Chinese high hereditary risk breast cancer populations. Oncol Lett. Jun;15(6):9420–9428. [Google Scholar]
Li A., Xie R., Zhi Q., Deng Y., Wu Y., Li W., Yang L., Jiao Z., Luo J., Zi Y., Sun G., Zhang J., Shi Y., Liu J. (2018) BRCA germline mutations in an unselected nationwide cohort of Chinese patients with ovarian cancer and healthy controls. Gynecol Oncol. Oct;151(1):145–152. [CrossRef] [Google Scholar]
Xin, Cao, A. Yong, et al. (2017) The spectrum of BRCA mutations and characteristics of BRCA- associated breast cancers in China: Screening of 2,991 patients and 1,043 controls by nextgeneration sequencing[J]. International Journal of Cancer =: Journal International du Cancer, 141(1):129–142. [CrossRef] [Google Scholar]
Kwong A., Shin V.Y., Chen J., Cheuk I.W.Y., Ho C.Y.S., Au C.H., Chan K.K.L., Ngan H.Y.S., Chan T.L., Ford J.M., Ma E.S.K. (2020) Germline Mutation in 1338 BRCA-Negative Chinese Hereditary Breast and/or Ovarian Cancer Patients: Clinical Testing with a Multigene Test Panel. J Mol Diagn. Apr;22(4):544–554. [CrossRef] [Google Scholar]
Chen B., Zhang G., Li X., Ren C., Wang Y., Li K., Mok H., Cao L., Wen L., Jia M., Li C., Guo L., Wei G., Lin J., Li Y., Zhang Y., Han-Zhang H., Liu J., Lizaso A., Liao N. (2020) Comparison of BRCA versus non- BRCA germline mutations and associated somatic mutation profiles in patients with unselected breast cancer. Aging (Albany NY). Feb 24;12(4):3140–3155. [CrossRef] [Google Scholar]
Wang Q., Wu H., Lan Y., Zhang J., Wu J., Zhang Y., Li L., Liu D., Zhang J. (2021) Changing Patterns in Clinicopathological Characteristics of Breast Cancer and Prevalence of BRCA Mutations: Analysis in a Rural Area of Southern China. Int J Gen Med. Oct 29;14:7371–7380. [CrossRef] [Google Scholar]
Shi T., Wang P., Xie C., Yin S., Shi D., Wei C., Tang W., Jiang R., Cheng X., Wei Q., Wang Q., Zang R. (2017) BRCA1 and BRCA2 mutations in ovarian cancer patients from China: ethnic-related mutations in BRCA1 associated with an increased risk of ovarian cancer. Int J Cancer. 140(9): 2051–2059. [CrossRef] [Google Scholar]
Cao W.M., Gao Y., Yang H.J., Xie S.N., Ding X.W., Pan Z.W., Ye W.W., Wang X.J. (2016) Novel germline mutations and unclassified variants of BRCA1 and BRCA2 genes in Chinese women with familial breast/ovarian cancer. BMC Cancer. 16: 64. [CrossRef] [Google Scholar]
Lin P.H., Kuo W.H., Huang A.C., Lu Y.S., Lin C.H., Kuo S.H., Wang M.Y., Liu C.Y., Cheng F.T., Yeh M.H., Li H.Y., Yang Y.H., Hsu Y.H., Fan S.C., Li L.Y., Yu S.L., Chang K.J., Chen P.L., Ni Y.H., Huang C.S. (2016) Multiple gene sequencing for risk assessment in patients with early-onset or familial breast cancer. Oncotarget. 7(7): 8310–8320. [CrossRef] [Google Scholar]
Wang C., Zhang J., Wang Y., Ouyang T., Li J., Wang T., Fan Z., Fan T., Lin B., Xie Y. (2015) Prevalence of BRCA1 mutations and responses to neoadjuvant chemotherapy among BRCA1 carriers and noncarriers with triple-negative breast cancer. Ann Oncol. 26(3): 523–528. [CrossRef] [Google Scholar]
Kwong A., Ng E.K., Wong C.L., Law F.B., Au T., Wong H.N., Kurian A.W., West D.W., Ford J.M., Ma E.S. (2012) Identification of BRCA1/2 founder mutations in Southern Chinese breast cancer patients using gene sequencing and high resolution DNA melting analysis. PLoS One. 7(9): e43994. [Google Scholar]
Matanes E., Volodarsky-Perel A., Eisenberg N., Rottenstreich M., Yasmeen A., Mitric C., Lau S., Salvador S., Gotlieb W.H., Kogan L. (2021) Endometrial Cancer in Germline BRCA Mutation Carriers: A Systematic Review and Meta-analysis. J Minim Invasive Gynecol. 28(5): 947–956. [CrossRef] [Google Scholar]
Marchetti C., De Felice F., Palaia I., Perniola G., Musella A., Musio D., Muzii L., Tombolini V., Panici P.B. (2014) Risk-reducing salpingo-oophorectomy: a meta-analysis on impact on ovarian cancer risk and all cause mortality in BRCA 1 and BRCA 2 mutation carriers. BMC Womens Health. 14: 150. [CrossRef] [Google Scholar]
Marchetti C., De Felice F., Boccia S., Sassu C., Di Donato V., Perniola G., Palaia I., Monti M., Muzii L., Tombolini V., Benedetti Panici P. (2018) Hormone replacement therapy after prophylactic riskreducing salpingo-oophorectomy and breast cancer risk in BRCA1 and BRCA2 mutation carriers: A meta-analysis. Crit Rev Oncol Hematol. 132: 111–115. [CrossRef] [Google Scholar]
Jiang Y., Meng X.Y., Deng N.N., Meng C., Li L.H., He Z.K., Wang X.Y., Song Z.Y., Cui R.J. (2021) Effect and Safety of Therapeutic Regimens for Patients With Germline BRcA Mutation-Associated Breast Cancer: A Network Meta-Analysis. Front Oncol. 11: 718761. [CrossRef] [Google Scholar]
Michaelson-Cohen R., Mor P., Srebnik N., Beller U., Levy-Lahad E., Eldar-Geva T. (2014) BRCA mutation carriers do not have compromised ovarian reserve. Int J Gynecol Cancer. 24(2): 233–237. [CrossRef] [PubMed] [Google Scholar]
Li N., Zhang X., Cai Y., Xu X., Zhang L., Pan K.F., Wu L.Y., Wang M.R. (2006) BRCA1 germline mutations in Chinese patients with hereditary breast and ovarian cancer. Int J Gynecol Cancer. 16 Suppl 1: 172–178. [CrossRef] [PubMed] [Google Scholar]
Smith K.R., Hanson H.A., Hollingshaus M.S. (2013) BRCA1 and BRCA2 mutations and female fertility. Curr Opin Obstet Gynecol. 25(3): 207–213. [CrossRef] [PubMed] [Google Scholar]
Lin W., Titus S., Moy F., Ginsburg E.S., Oktay K. (2017) Ovarian Aging in Women With BRCA Germline Mutations. J Clin Endocrinol Metab. 102(10): 3839–3847. [CrossRef] [PubMed] [Google Scholar]
Maedo G.S., Alemar B., Ashton-Prolla P. Reviewing the characteristics of BRCA and PALB2-related cancers in the precision medicine era. Genet Mol Biol. 2019; 42(1 suppl 1): 215–231. [CrossRef] [PubMed] [Google Scholar]
Titus S., Li F., Stobezki R., Akula K., Unsal E., Jeong K., Dickler M., Robson M., Moy F., Goswami S., Oktay K. (2013) Impairment of BRCA1-related DNA double strand break repair leads to ovarian aging in mice and humans. Science TranslationalMedicine. 5(172): 172ra21. [Google Scholar]
Yu Jiao, Xu Yang. (2018) Effects of BRCA gene mutations on female fertility. Journal of Lanzhou University (Medical Edition). 44(01): 29–33. [Google Scholar]
Hu K.L., Wang S., Ye X., Zhang D. (2020) Effects of BRCA gene mutation on female reproductive potential: A systematic review. Maturitas. 137: 11–17. [CrossRef] [Google Scholar]
Pal T., Keefe D., Sun P., Narod S.A. (2010) Hereditary Breast Cancer Clinical Study Group. Fertility in women with BRCA mutations: a case-control study. Fertil Steril. 93(6): 1805–1808. [Google Scholar]
Collins I.M., Milne R.L., McLachlan S.A., Friedlander M., Hickey M., Weideman P.C., Birch K.E., Hopper J.L., Phillips K.A. (2013) Do BRCA1 and BRCA2 mutation carriers have earlier natural menopause than their noncarrier relatives? Results from the Kathleen Cuningham Foundation Consortium for Research into Familial Breast Cancer. J Clin Oncol. 31(31): 3920–3925. [CrossRef] [PubMed] [Google Scholar]
Moslehi R., Singh R., Lessner L., Friedman J.M. (2010) Impact of BRCA mutations on female fertility and offspring sex ratio. Am J Hum Biol. 22(2): 201–205. [Google Scholar]
Gasparri M.L., Di Micco R., Zuber V., Taghavi K., Bianchini G., Bellaminutti S., Meani F., Graffeo R., Candiani M., Mueller M.D., Papadia A., Gentilini O.D. (2021) Ovarian reserve of women with and without BRCA pathogenic variants: A systematic review and meta-analysis. Breast. 60: 155–162. [CrossRef] [Google Scholar]

Current usage metrics show cumulative count of Article Views (full-text article views including HTML views, PDF and ePub downloads, according to the available data) and Abstracts Views on Vision4Press platform.

Data correspond to usage on the plateform after 2015. The current usage metrics is available 48-96 hours after online publication and is updated daily on week days.

Initial download of the metrics may take a while.