Frequency and spectrum of founder and non-founder BRCA1 and BRCA2 mutations in a large series of Russian breast cancer and ovarian cancer patients

AP Sokolenko, TN Sokolova, VI Ni… - Breast Cancer Research …, 2020 - Springer
Background The spectrum of BRCA1 and BRCA2 mutations in Slavic countries is characterized
by a high prevalence of founder alleles. Methods We analyzed a large data set of …

Prevalence, spectrum, and founder effect of BRCA1 and BRCA2 mutations in epithelial ovarian cancer from the Middle East

AK Siraj, R Bu, K Iqbal, N Siraj, W Al‐Haqawi… - … mutation, 2019 - Wiley Online Library
… have found two founder mutations in BRCA1 gene in Middle Eastern population, we cannot
rule out the possibility that other founder mutations in BRCA1 and/or BRCA2 genes may also …

BRCA1 and BRCA2 mutations in ovarian cancer patients from Belarus: update

A Savanevich, O Ashuryk, C Cybulski… - Hereditary Cancer in …, 2021 - Springer
… This study aimed to evaluate the prevalence and spectrum of 13 BRCA1 and BRCA2 founder
mutations most frequently observed in the area of Central Europe in unselected patients …

Tumor Testing for Somatic and Germline BRCA1/BRCA2 Variants in Ovarian Cancer Patients in the Context of Strong Founder Effects

A Peixoto, P Pinto, J Guerra, M Pinheiro… - Frontiers in …, 2020 - frontiersin.org
… In this study, LOH was observed in 91 and 67% of ovarian tumors with a BRCA1 and BRCA2
germline pathogenic mutation, respectively, which is in accordance with previous reports. …

Discovery of BRCA1/BRCA2 founder variants by haplotype analysis

WK Kwon, HJ Jang, JE Lee, YH Park, JM Ryu, J Yu… - Cancer Genetics, 2022 - Elsevier
… , mostly BRCA1/BRCA2 genes. Because genetic predispositions vary by ethnicity, several
studies have reported founder variants of BRCA1/BRCA2 genes. Such founder variants were …

[HTML][HTML] Analysis of clinical characteristics of breast cancer patients with the Japanese founder mutation BRCA1 L63X

R Yoshida, C Watanabe, S Yokoyama, M Inuzuka… - Oncotarget, 2019 - ncbi.nlm.nih.gov
… : BRCA1 and BRCA2 are high-penetrance inherited genes; different founder mutations have
been … L63X mutation, other BRCA1 mutations, and BRCA2 mutations using Chi-square test. …

BRCA1 and BRCA2 germline testing in Cretan isolates reveals novel and strong founder effects

P Apostolou, F Fostira, C Kouroussis… - … Journal of Cancer, 2020 - Wiley Online Library
… We have already taken advantage of these findings by testing patients from Crete for the
reported founder mutations, before sequencing the whole genes, since genetic services are …

Founder BRCA1/BRCA2/PALB2 pathogenic variants in French-Canadian breast cancer cases and controls

S Behl, N Hamel, M de Ladurantaye, S Lepage… - Scientific reports, 2020 - nature.com
… , a de novo mutation or a mutation present in a founding member can become widespread in
… Population genetic testing for cancer susceptibility: founder mutations to genomes. Nat Rev …

BRCA1 c.5470_5477del, a founder mutation in Chinese Han breast cancer patients

H Meng, L Yao, H Yuan, Y Xu, T Ouyang… - … Journal of Cancer, 2020 - Wiley Online Library
… are BRCA1 185delAG, 5382insC and BRCA2 6174delT,5, 6 the three founder mutations
.7, 8 Other founder mutations have also been reported in Iceland (BRCA2 c.771_775del),9 the …

The Features of BRCA1 and BRCA2 Germline Mutations in Hakka Ovarian Cancer Patients: BRCA1 C.536 A>T Maybe a Founder Mutation in This Population

Y Luo, H Wu, Q Huang, H Rao, Z Yu… - International Journal of …, 2022 - Taylor & Francis
… A>T could be considered to be a founder mutation in this ovarian cancer population. This
recurrent BRCA1 mutation has rarely been observed in other ethnic groups. Our findings are …