BRCA mutations, molecular markers, and clinical variables in early-onset breast cancer: A population-based study

Musolino, Antonino; Bella, Maria Angela; Bortesi, Beatrice; Michiara, Maria; Naldi, Nadia; Zanelli, Paola; Capelletti, Marzia; Pezzuolo, Debora; Camisa, Roberta; Savi, M; Neri, Tauro Maria; Ardizzoni, Andrea

doi:10.1016/j.breast.2006.12.003

Cited by 119 publications

(91 citation statements)

References 27 publications

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“…Interestingly, this was largely attributed to the 70% increase in the 2 year period immediately following pregnancy and was specific to the development of early breast cancers (age !40 years). Considering the data on sporadic breast cancers, these results from the familial setting seem to be counterintuitive, as BRCA1 breast cancers tend to be ERK and BRCA2 tumors tend to be ERC (Loman et al 1998, Foulkes et al 2004, Musolino et al 2007). However, it is known that oophorectomy protects against breast cancer development in BRCA1 carriers (Rebbeck et al 1999, Kauff et al 2002, Eisen et al 2005 so it is likely that there is an indirect (or ER-independent) effect of hormones on the development of these tumors, an effect which can be modulated by parity.…”

Section: Parity and The Protection Against Erc Prc Breast Cancersmentioning

confidence: 99%

Pregnancy and the risk of breast cancer

Britt¹,

Ashworth²,

Smalley³

2007

Endocrine Related Cancer

196

175

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It is well established that childless women and women having children later in life are at an increased risk of developing breast cancer. In particular, women having a first child before 20 years of age have a 50% reduction in lifetime breast cancer risk when compared with women who do not have children. This protective effect is specific for estrogen receptor positive breast cancer. Nevertheless, it remains unclear how parity decreases breast cancer risk. Possible mechanisms of action include changes to the hormonal profile of parous women, a more differentiated and so less susceptible mammary gland or changes within specific epithelial cell subpopulations. In this review, we discuss the epidemiological evidence for the protective effects of parity on breast cancer. We also explore the mechanisms by which parity protects, with a particular emphasis on the role of stem cells and the interactions between stem cells and estrogen.

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Section: Parity and The Protection Against Erc Prc Breast Cancersmentioning

confidence: 99%

Pregnancy and the risk of breast cancer

Britt¹,

Ashworth²,

Smalley³

2007

Endocrine Related Cancer

196

175

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“…It is usually high grade, poorly differentiated, infiltrating ductal carcinoma; does not express the estrogen receptor (ER) or progesterone receptor (PR); and does not overexpress human epidermal growth factor receptor-2 (HER2). [6][7][8] Preclinical studies have suggested that lack of functioning BRCA1 or BRCA2 protein functioning may result in differential treatment response to several chemotherapeutic drugs, which might be explained by distinct pathologic features and gene expression profiles in hereditary breast cancer compared with sporadic cancer. [9][10][11] Although several studies have reported a profound hypersensitivity to apoptosis in BRCA1-and/or BRCA2-deficient…”

Section: Introductionmentioning

confidence: 99%

Response to Neoadjuvant Systemic Therapy for Breast Cancer in BRCA Mutation Carriers and Noncarriers: A Single-Institution Experience

Arun

Bayraktar

Liu

et al. 2011

JCO

158

107

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A B S T R A C T PurposeTo compare the pathologic complete response (pCR) rate and relapse-free survival (RFS) and overall survival (OS) after neoadjuvant systemic chemotherapy (NST) in patients with breast cancer with and without deleterious BRCA1 and BRCA2 mutations. Patients and MethodsA total of 317 women who underwent BRCA genetic testing and were treated with NST for breast cancer between 1997 and 2009 were included in the study. The Kaplan-Meier product-limit method was used to estimate RFS and OS rates. Logistic regression models were fit to determine the associations between BRCA status, pCR, and survival. ResultsFifty-seven (18%) and 23 (7%) patients had BRCA1 and BRCA2 mutations, respectively. Twenty-six (46%) of 57 BRCA1 carriers achieved a pCR, compared with three (13%) of 23 BRCA2 carriers and 53 (22%) of 237 BRCA noncarriers (P Ͻ .001). In the multivariate logistic model, BRCA1 status (odds ratio [OR] ϭ 3.16; 95% CI, 1.55 to 6.42; P ϭ .002), estrogen receptor (ER) negativity (OR ϭ 1.96; 95% CI:1.05 to 3.65; P ϭ .03) and concurrent trastuzumab use (OR ϭ 4.18; 95% CI, 2.04 to 8.57; P Ͻ .001) remained as independent significant predictors for a pCR. At a median follow-up of 3.2 years, 69 patients (22%) experienced a disease recurrence or death. No significant differences were noted in survival outcomes with respect to BRCA status and type of NST received. However, among BRCA1 carriers, patients who achieved a pCR had better 5-year RFS (P ϭ .001) and OS (P ϭ .01) rates than patients who did not. ConclusionBRCA1 status and ER negativity are independently associated with higher pCR rates in patients with breast cancer. Overall prognosis of breast cancer in BRCA carriers is similar to sporadic breast cancers.

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“…Although the BRCA1 mutation rate of Han Chinese in the Xinjiang region falls within the range reported in these developing countries, the BRCA1 mutation rate of Uighur women is much higher and has similar distributions to developed countries. In Italy, BRCA1 mutations were detected in 15 (22.7%) out of 66 tested women diagnosed with breast cancer before the age of 40 who were unselected for family history (Musoplino et al, 2007). A previous study analyzing the prevalence of BRCA1 and BRCA2 mutations in German women with early-onset breast cancer (aged ≤ 35) estimated a mutation frequency of 8% for BRCA1 (Meindl., 2002).…”

Section: Brca1 Gene Rxon 11 Mutations With Breast Cancer In Uighur Anmentioning

confidence: 99%

BRCA1 Gene Exon 11 Mutations in Uighur and Han Women with Early-onset Sporadic Breast Cancer in the Northwest Region of China

Cao

Fu²,

Wan³

et al. 2014

Asian Pacific Journal of Cancer Prevention

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BRCA mutations, molecular markers, and clinical variables in early-onset breast cancer: A population-based study

Cited by 119 publications

References 27 publications

Pregnancy and the risk of breast cancer

Pregnancy and the risk of breast cancer

Response to Neoadjuvant Systemic Therapy for Breast Cancer in BRCA Mutation Carriers and Noncarriers: A Single-Institution Experience

BRCA1 Gene Exon 11 Mutations in Uighur and Han Women with Early-onset Sporadic Breast Cancer in the Northwest Region of China

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