BRCA1/2 mutations and triple negative breast cancers

Peshkin, Beth N.; Alabek, Michelle; Isaacs, Claudine

doi:10.3233/bd-2010-0306

Cited by 122 publications

(97 citation statements)

References 45 publications

(55 reference statements)

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“…The ratio of TNBC in individuals positive for BRCA1 mutations was 75.8% in this study. According to many reports, the frequency of TNBC in BRCA1 mutation carriers is~60-80% [14]. CIMBA reported the frequency to be 68% [15].…”

Section: Discussionmentioning

confidence: 99%

Genetic and clinical characteristics in Japanese hereditary breast and ovarian cancer: first report after establishment of HBOC registration system in Japan

et al. 2017

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The hereditary breast and ovarian cancer (HBOC) registration system of Japan was established by the Japanese HBOC Consortium. The first trial was registered in 2015 in four institutions to which some registration committee members belonged. We analyzed the information of 830 Japanese pedigrees, who underwent BRCA1/2 genetic testing, including mutation carriers with BRCA1 (N = 127) and BRCA2 (N = 115), and their families. The mutation-positive rate was 19.7%. Variants of uncertain significance were found in 6.5% of all individuals subjected to genetic testing for BRCA1/2. Compared to the United States, Japan had a higher mutation-positive rate in most categories, except for the groups with male breast cancer. Among the intrinsic subtypes of BRCA1-associated breast cancers, 75.8% were triple-negative. The incidence rate of contralateral breast cancer in BRCA1/2 mutation carriers was 0.99%/year. Among 240 mutation carriers, 26 and 62 patients underwent risk-reducing mastectomy (RRM) and risk-reducing salpingo-oophorectomy (RRSO), respectively; the respective frequencies of occult cancer were 7.1 and 3.2%. Metachronous breast cancer after RRM or peritoneal cancer after RRSO was not observed during the follow-up period. The nationwide registration system began last year and the system enables followup analysis in Japan.

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Section: Discussionmentioning

confidence: 99%

Genetic and clinical characteristics in Japanese hereditary breast and ovarian cancer: first report after establishment of HBOC registration system in Japan

et al. 2017

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“…25 In addition, family history may be under-reported or uninformative due to paucity of female first degree relatives. In general, the threshold for genetic testing is a mutation probability of ≥20%, and this is currently reached only for cases with a strong family history.…”

Section: Discussionmentioning

confidence: 99%

Prediction of BRCA1 Germline Mutation Status in Women With Ovarian Cancer Using Morphology-based Criteria

Fujiwara

McGuire²,

Felberg³

et al. 2012

American Journal of Surgical Pathology

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Specific morphologic features that may predict BRCA1germline mutation in ovarian cancer have neither been well described nor independently tested. We identified 5 morphologic features associated with BRCA1 mutation status in a series of 20 ovarian cancers from BRCA1 mutation carriers: 1) modified Nottingham grade 3; 2) serous/undifferentiated histology; 3) prominent intraepithelial lymphocytes; 4) marked nuclear atypia with giant/bizarre forms; and 5) abundant mitotic figures. These morphologic features were then tested on 325 ovarian tumors drawn from a population-based Greater Bay Area Cancer Registry, and classified into 3 categories independent of BRCA1 status: “Compatible with BRCA1”, “Possibly compatible with BRCA1” and “Not compatible with BRCA1”. All “Compatible with BRCA1” tumors were additionally investigated for presence of dominant adnexal mass, fallopian tube mucosal involvement, and uterine cornu involvement. The positive and negative predictive values for “Compatible with BRCA1” were 11/42 (26.2%) and 267/283 (94.3%) respectively, while combining the “Compatible with BRCA1” and “Possibly compatible with BRCA1” had positive and negative predictive values of 18/85 (21.2%) and 231/240 (96.3%), respectively. Although dominant adnexal mass and uterine cornu involvement did not add further predictive value, the likelihood of BRCA1 positivity increased to 42.9% when a tumor with “Compatible with BRCA1” histology was also associated with fallopian tube mucosal involvement. The combination of modified Nottingham grade 3 serous or undifferentiated histology, prominent intraepithelial lymphocytes, marked nuclear atypia with giant/bizarre nuclei and high mitotic index should help to identify women for BRCA1 mutational analysis in the appropriate clinical setting. Ovarian tumors lacking this specific phenotype are unlikely to be associated with BRCA1 and should not undergo mutational analysis in absence of other indications.

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“…Population-based studies have reported that Black women are approximately two to three times more likely to have triple-negative breast cancer (TNBC) than White women [1, 2] and this clinical subtype of breast cancer has been associated with germline BRCA1 mutations [3–5]. Even among patients unselected for family history of breast cancer, women with TNBC are more likely to have BRCA1/2 mutations, and these patients are often diagnosed at an earlier age and have higher grade tumors than those without mutations [6].…”

Section: Introductionmentioning

confidence: 99%

Deleterious BRCA1/2 mutations in an urban population of Black women

Lynce

Smith

Stein

et al. 2015

Breast Cancer Res Treat

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Information on the prevalence of deleterious BRCA1 and BRCA2 (BRCA1/2) mutations in clinic-based populations of Black women is limited. In order to address this gap, we performed a retrospective study to determine the prevalence of deleterious BRCA1/2 mutations, predictors of having a mutation, and acceptance of risk-reducing surgeries in Black women. In an urban unselected clinic-based population, we evaluated 211 self-identified Black women who underwent genetic counseling for hereditary breast–ovarian cancer syndrome. BRCA1/2 mutations were identified in 13.4 % of the participants who received genetic testing. Younger age at diagnosis, higher BRCA-PRO score, significant family history, and diagnosis of triple-negative breast cancer were associated with identification of a BRCA1/2 mutation. Of the affected patients found to have a deleterious mutation, almost half underwent prophylactic measures. In our study population, 1 in 7 Black women who underwent genetic testing harbored a deleterious BRCA1/2 mutation independent of age at diagnosis or family history.

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BRCA1/2 mutations and triple negative breast cancers

Cited by 122 publications

References 45 publications

Genetic and clinical characteristics in Japanese hereditary breast and ovarian cancer: first report after establishment of HBOC registration system in Japan

Genetic and clinical characteristics in Japanese hereditary breast and ovarian cancer: first report after establishment of HBOC registration system in Japan

Prediction of BRCA1 Germline Mutation Status in Women With Ovarian Cancer Using Morphology-based Criteria

Deleterious BRCA1/2 mutations in an urban population of Black women

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