A BRCA2 founder mutation and seven novel deleterious BRCA mutations in southern Chinese women with breast and ovarian cancer

Kwong, Ava; Wong, Laurence; Wong, Hiu Yung; Law, Fian B.F.; Ng, Enders K.W.; Tang, Yiyun; Chan, William W.‐C.; Ho, Lina; Kwan, K. H.; Poon, M.; Wong, TT; Leung, F.; Chan, Siu On; Ying, Marcus; S.K., Edmond; Ford, James M.

doi:10.1007/s10549-009-0385-2

Cited by 40 publications

(55 citation statements)

References 22 publications

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“…To our knowledge, it has only once been reported in native Asian patient (34), therefore, it is strongly associated with Asian founder mutation. However, Kwong et al have recognized BRCA2 c.3109C>T as a founder mutation in southern Chinese population in Hong Kong (35,36). 81.5% of probands in the study were immigrants from Guangdong.…”

Section: Discussionmentioning

confidence: 67%

Multicenter cross‑sectional screening of the BRCA gene for Chinese high hereditary risk breast cancer populations

et al. 2018

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Abstract. Due to lack of systematic reviews, BRCA, DNA Repair Associated (BRCA) mutations in the Chinese population are not completely understood. The following study investigates the prevalence and type of BRCA mutations in Chinese patients with high hereditary risk of breast cancer (BC).Patients Drwere recruited from 14 cities between October 2015 and February 2016, and were selected based on family and personal medical history. BRCA mutations were analyzed by collecting blood samples from all participants. 437 BC patients were included. A total of seventy-six (17.4%) mutation carriers were identified with no geographic difference. The mutation rate in the early-onset BC patients was lower compared to family history of breast/ovarian cancer (OC), bilateral BC, male BC, BC&OC or meeting ≥2 criteria (9.2 vs. 21.7, 24.0, 22.2, 16.7 and 24.3%, respectively, P=0.007). A total of 61 mutation sites were identified (BRCA1 32, BRCA2 29) including 47.5% novel sites and extra 10 variants of uncertain significance. A total of five sites were repeated in more than one unrelated patient. A total of 11 sites were associated with hereditary breast and ovarian cancer syndrome, two of which were confirmed by family pedigrees. Compared with BRCA -patients, patients with BRCA1 mutation tended to be triple-negative BC (P<0.001), whereas patients with BRCA2 mutation were more likely to be hormone receptor positive

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Section: Discussionmentioning

confidence: 67%

Multicenter cross‑sectional screening of the BRCA gene for Chinese high hereditary risk breast cancer populations

et al. 2018

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“…:http://dx.doi.org/10.7314/APJCP.2013.14.1.287 Low PTPN12 is Associated with Poor Prognosis in Operable Triple-negative Breast Cancer PTPN12 is also thought to play an important role in cell adhesion and motility, and is involved in cancer metastasis (Andersen et al, 2004;Streit et al, 2006;Hunter, 2009;Kwong et al, 2009;DeSantis et al, 2011;Rhee et al, 2012). To date, several researches reported that some oncogenes and cell adhesion molecules such like c-ABL, p130 (Cas), CAKbeta, and PSTPIP1 were associated with PTP family (Angers-Loustau et al, 1999;Andersen et al, 2004;Westbrook et al, 2008).…”

Section: Discussionmentioning

confidence: 99%

“…Breast cancer is the most common malignancy in female population worldwide and breast cancer rates are rising in Asian women in China (Kwong et al, 2009;DeSantis et al, 2011). Findings show that breast cancer has different prognoses for different subtypes (Carey et al, 2006).…”

Section: Introductionmentioning

confidence: 99%

Low Expression of Tyrosine-protein Phosphatase Nonreceptor Type 12 is Associated with Lymph Node Metastasis and Poor Prognosis in Operable Triple-negative Breast Cancer

Wu¹,

Hu²,

Gao³

et al. 2013

Asian Pacific Journal of Cancer Prevention

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“…In patients from high-risk families, an intragenic rearrangement prevalence of 2 and 12 for each mutation has been suggested [22][23][24][25] . In 2011, Sluiter and van Rensburg reported that 81 rearrangements of BRCA1 had been found worldwide 22 .…”

Section: Discussionmentioning

confidence: 99%

“…There was a tendency for a greater number of younger patients to receive genetic counseling and to agree to BRCA1 / 2 genetic testing. Speci cally, counseling rates were 25 were positive for the BRCA1 / 2 genetic mutation. There was no signi cant difference in BRCA1 / 2 mutation frequencies according to age.…”

Section: Brca1 / 2 Mutation Frequency According To Age and Fh In Japamentioning

confidence: 99%

BRCA1/2 Mutation Frequency is HIGH in Japanese Triple-Negative Breast Cancer Patients

Shigenaga

Akashi‐Tanaka

Uchida

et al. 2014

Showa Univ J Med Sci

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: Germline mutations of BRCA1 / 2 genes cause hereditary breast and / or ovarian cancer. However, whether guidelines like those of the National Comprehensive Cancer Network NCCN can suitably predict the likelihood of BRCA1 / 2 mutations in the Japanese population is unclear. Methods BRCA1 / 2 gene mutation frequencies were investigated in relation to parameters such as age, family history FH , and breast cancer subtype using data collected from 922 Japanese breast cancer patients who underwent surgery between September 2010 and June 2013. BRCA1 / 2 mutations were present in 15 of 57 26.3 tested patients. The frequency of the mutations was not signi cantly related to age. Among the 180 patients who reported an FH of breast cancer, 11 of the 37 who were tested 29.7were positive for BRCA1 / 2 mutations. Of those with an FH of ovarian cancer n 34 , seven of 12 patients tested 58.3 were carriers of BRCA1 / 2 P 0.013 . Six of these seven carriers were triple-negative breast cancer TNBC patients. In all, there were 97 TNBC patients, and the presence of the BRCA1 / 2 mutation in this subgroup was signi cantly greater than in non-TNBC patients, with 12 of 17 TNBC patients 70.5 testing positive P 0.03 . There were 59 TNBC patients 60 years of age, and of the 16 27.1 who underwent BRCA1 / 2 genetic testing, 11 68.8 were found to have mutations in BRCA1 / 2. Among the TNBC patients, 29 also reported an FH of breast or ovarian cancer ; of these, nine of the 13 tested 69.2 were positive for a BRCA1 / 2 mutation. The data demonstrate that BRCA1 / 2 mutations are observed more frequently in TNBC patients, especially those 60 years of age or in combination with an FH of breast and / or ovarian cancer, suggesting that some of the NCCN guidelines can adequately predict BRCA1 / 2 carriers in the Japanese population.

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A BRCA2 founder mutation and seven novel deleterious BRCA mutations in southern Chinese women with breast and ovarian cancer

Cited by 40 publications

References 22 publications

Multicenter cross‑sectional screening of the BRCA gene for Chinese high hereditary risk breast cancer populations

Multicenter cross‑sectional screening of the BRCA gene for Chinese high hereditary risk breast cancer populations

Low Expression of Tyrosine-protein Phosphatase Nonreceptor Type 12 is Associated with Lymph Node Metastasis and Poor Prognosis in Operable Triple-negative Breast Cancer

BRCA1/2 Mutation Frequency is HIGH in Japanese Triple-Negative Breast Cancer Patients

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