An Update on DNA-Based BRCA1/BRCA2 Genetic Counseling in Hereditary Breast Cancer

Lynch, Henry T.; Watson, Patrice; Tinley, Susan; Snyder, Carrie; Durham, Carolyn; Lynch, Jane F.; Kirnarsky, Yulia; Serova, Olga; Lenoir, Gilbert; Lerman, Caryn; Narod, Steven A.

doi:10.1016/s0165-4608(98)00165-4

Cited by 72 publications

(48 citation statements)

References 9 publications

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“…Participants recruited were either diagnosed with breast cancer or ovarian cancer, or in the minority of cases were asymptomatic individuals from 'high-risk breast/ovarian cancer families based on well-accepted criteria. 19 The study was approved by the local IRBs, and each patient gave informed consent.…”

Section: Participant Identification and Recruitmentmentioning

confidence: 99%

Haplotype analysis of the 185delAG BRCA1 mutation in ethnically diverse populations

et al. 2012

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The 185delAG* BRCA1 mutation is encountered primarily in Jewish Ashkenazi and Iraqi individuals, and sporadically in non-Jews. Previous studies estimated that this is a founder mutation in Jewish mutation carriers that arose before the dispersion of Jews in the Diaspora B2500 years ago. The aim of this study was to assess the haplotype in ethnically diverse 185delAG* BRCA1 mutation carriers, and to estimate the age at which the mutation arose. Ethnically diverse Jewish and non-Jewish 185delAG*BRCA1 mutation carriers and their relatives were genotyped using 15 microsatellite markers and three SNPs spanning 12.5 MB, encompassing the BRCA1 gene locus. Estimation of mutation age was based on a subset of 11 markers spanning a region of B5 MB, using a previously developed algorithm applying the maximum likelihood method. Overall, 188 participants (154 carriers and 34 noncarriers) from 115 families were included: Ashkenazi, Iraq, Kuchin-Indians, Syria, Turkey, Iran, Tunisia, Bulgaria, non-Jewish English, non-Jewish Malaysian, and Hispanics. Haplotype analysis indicated that the 185delAG mutation arose 750-1500 years ago. In Ashkenazim, it is a founder mutation that arose 61 generations ago, and with a small group of founder mutations was introduced into the Hispanic population (conversos) B650 years ago, and into the Iraqi-Jewish community B450 years ago. The 185delAG mutation in the non-Jewish populations in Malaysia and the UK arose at least twice independently. We conclude that the 185delAG* BRCA1 mutation resides on a common haplotype among Ashkenazi Jews, and arose about 61 generations ago and arose independently at least twice in non-Jews.

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Section: Participant Identification and Recruitmentmentioning

confidence: 99%

Haplotype analysis of the 185delAG BRCA1 mutation in ethnically diverse populations

et al. 2012

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“…In addition, immunohistochemical staining of PCNA has been used extensively in breast cancer diagnosis and prognosis (2,(4)(5)(6). PCNA has proven to be a useful marker to evaluate cell proliferation and prognosis when combined with other breast cancer markers, such as estrogen receptor, progesterone receptor, and Her2͞neu (2,(7)(8)(9). Increased PCNA expression was also shown to be related to a shorter disease-free period and overall survival time in patients with breast cancer (5).…”

mentioning

confidence: 99%

A cancer-associated PCNA expressed in breast cancer has implications as a potential biomarker

Malkas

Herbert

Abdel-Aziz

et al. 2006

Proc. Natl. Acad. Sci. U.S.A.

105

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Two isoforms of proliferating cell nuclear antigen (PCNA) have been observed in breast cancer cells. Commercially available antibodies to PCNA recognize both isoforms and, therefore, cannot differentiate between the PCNA isoforms in malignant and nonmalignant breast epithelial cells and tissues. We have developed a unique antibody that specifically detects a PCNA isoform (caPCNA) associated with breast cancer epithelial cells grown in culture and breast-tumor tissues. Immunostaining studies using this antibody suggest that the caPCNA isoform may be useful as a marker of breast cancer and that the caPCNA-specific antibody could potentially serve as a highly effective detector of malignancy. We also report here that the caPCNA isoform functions in breast cancer-cell DNA replication and interacts with DNA polymerase ␦. Our studies indicate that the caPCNA isoform may be a previously uncharacterized detector of breast cancer. mass spectrometry ͉ pathology ͉ posttranslational modification ͉ DNA replication ͉ genome stability

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“…An important reason to ask for genetic testing is to obtain certainty about the need for screening and/or prophylactic surgery (Dudok de Wit et al, 1997;Lynch et al, 1999;Meiser et al, 2000). These treatment options have different risk -benefit profiles that women may value differently.…”

mentioning

confidence: 99%

Randomised trial of a decision aid and its timing for women being tested for a BRCA1/2 mutation

Roosmalen¹,

Stalmeier²,

Verhoef³

et al. 2004

Br J Cancer

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The aim of the study was to evaluate the impact of a decision aid (DA) and its timing in women being tested for a BRCA1/2 mutation. Women with and without a previous history of cancer were included after blood sampling for genetic testing. The DA consisted of a brochure and video providing information on screening and prophylactic surgery. To evaluate the impact of the DA, women were randomised to the DA group (n ¼ 184), receiving the DA 2 weeks after blood sampling, or to the control group (n ¼ 184). To evaluate the impact of timing, mutation carriers who had received the DA before the test result (n ¼ 47) were compared to mutation carriers who received the DA after the test result (n ¼ 42). Data were collected on well-being, treatment choice, decision and information related outcomes. The impact of the DA was measured 4 weeks after blood sampling. The impact of timing was measured 2 weeks after a positive test result. The DA had no impact on well-being. Regarding decision related outcomes, the DA group more frequently considered prophylactic surgery (P ¼ 0.02) corroborated with higher valuations (P ¼ 0.04). No differences were found for the other decision related outcomes. Regarding information related outcomes, the DA group felt better informed (P ¼ 0.00), was more satisfied with the information (P ¼ 0.00), and showed more accurate risk perceptions. Timing of the DA had no effect on any of the outcomes. No interactions were found between the DA and history of cancer. In conclusion, women being tested for a BRCA1/2 mutation benefit from the DA on information related outcomes. Because timing had no effect, the DA is considered useful either before or after the test result.

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An Update on DNA-Based BRCA1/BRCA2 Genetic Counseling in Hereditary Breast Cancer

Cited by 72 publications

References 9 publications

Haplotype analysis of the 185delAG BRCA1 mutation in ethnically diverse populations

Haplotype analysis of the 185delAG BRCA1 mutation in ethnically diverse populations

A cancer-associated PCNA expressed in breast cancer has implications as a potential biomarker

Randomised trial of a decision aid and its timing for women being tested for a BRCA1/2 mutation

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