Corrigendum: Identification of BRCA1:c.5470_5477del as a Founder Mutation in Chinese Ovarian Cancer Patients

22 Background: Hereditary breast and ovarian cancer (HBOC) is a high-penetrance inherited disease, and founder mutation has been reported in the West. However, there are yet no reports of founder mutation of HBOC on breast cancer in the Japanese population. In this study, we report the breast cancer clinical characteristics of L63X, which is one of the founder mutations in BRCA1 in the Japanese population. Methods: Data on 223 affected breast cancer patients (28 BRCA1 carriers, 19 BRCA2 carriers, and 176 non-carriers) were collected at Showa University in Tokyo from September 2010 to June 2015. In 22 independent mutations of BRCA1, the L63X mutation was detected in 9 patients. Data regarding the age of breast cancer onset, pathological features, clinical features, and family history were collected. Results: The age of onset was no significant differences between the L63X mutation and other BRCA1 mutations (39.7 vs. 38.5years). The proportion of triple negative breast cancer patients was 87.5% in the L63X mutation carriers and 89.5% in other BRCA1 mutation carriers. No patients of the L63X affected bilateral breast cancers. On the other hand, 36.7% of other BRCA1mutations affected bilateral breast cancers. There was no significant difference in pathological features (intrinsic subtype, nuclear grade and ki-67 index). The L63X carriers tended to have a family history of breast cancers. All L63X mutations were detected in the Eastern part of Japan. Conclusions: The breast cancer clinical characteristics of L63X might be considered no different from other types of BRCA1 mutations. Recently, it has been reported that breast and ovarian cancer risks varied according to the type and location of BRCA1/2 mutations. L63X mutation is located in the breast cancer cluster region in BRCA1. Further investigation is necessary for appropriate validation and accumulation of data.

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G1738R is a BRCA1 founder mutation in Greek breast/ovarian cancer patients: evaluation of its pathogenicity and inferences on its genealogical history

Breast Cancer Research and Treatment ◽

10.1007/s10549-007-9729-y ◽

2007 ◽

Vol 110 (2) ◽

pp. 377-385 ◽

Cited By ~ 28

Author(s):

Theodore Anagnostopoulos ◽

Maroulio Pertesi ◽

Irene Konstantopoulou ◽

Sofia Armaou ◽

Smaragda Kamakari ◽

...

Keyword(s):

Ovarian Cancer ◽

Cancer Patients ◽

Founder Mutation

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Identification of BRCA1:c.5470_5477del as a Founder Mutation in Chinese Ovarian Cancer Patients

Frontiers in Oncology ◽

10.3389/fonc.2021.655709 ◽

2021 ◽

Vol 11 ◽

Author(s):

Jun Li ◽

Sile Han ◽

Cuiyun Zhang ◽

Yanlin Luo ◽

Li Wang ◽

...

Keyword(s):

Ovarian Cancer ◽

Cancer Patients ◽

Founder Effect ◽

Haplotype Analysis ◽

Founder Mutation ◽

Progression Free Survival ◽

Ki 67 ◽

Target Sequencing ◽

Recurrent Mutations ◽

Different Populations

Predisposition of germline BRCA1/2 mutations (gBRCAMUT) increases the risk of breast and ovarian cancer in females, but the mutation prevalence and spectrum are highly ethnicity-specific with different recurrent mutations being reported in different populations. Hereby, we performed hybridization-based target sequencing of BRCA1/2 in 530 ovarian cancer patients from Henan, the central region of China, followed by haplotype analysis of six short tandem repeat (STR) markers in the patients with recurrent mutations to determine their founder effect. About 28.3% (150/530) of the OC patients in our cohort harbored gBRCAMUT; of the 151 mutations, 117 in BRCA1 and 34 in BRCA2, identified in this study, BRCA1:c.5470_5477del, c.981_982del, and c.4065_4068del are the top three mutants, recurrently detected in eight, seven, and six independent patients respectively. Haplotype analysis identified a region of 0.6 MB genomic length covering BRCA1 highly conserved across all eight carriers of BRCA1:c.5470_5477del, but not c.981_982del, suggesting a consequence of founder effect. Retrospective analysis in a subgroup of serous ovarian cancer patients revealed gBRCAMUT status was not associated with the progression-free survival (PFS); instead, an expression of Ki-67% ≥50% was associated with a shorter PFS (p = 0.041). In conclusion, patients with pathogenic or likely pathogenic gBRCAMUT account for 28.3% of the OC cases from Henan, and BRCA1:c.5470_5477del, the most frequently detected mutation in Henan patients, is a founder mutation in the population.

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BRCA1 4153delA founder mutation in Russian ovarian cancer patients

Hereditary Cancer in Clinical Practice ◽

10.1186/1897-4287-4-4-193 ◽

2006 ◽

Vol 4 (4) ◽

pp. 193 ◽

Cited By ~ 9

Author(s):

Nadezhda Krylova ◽

Oksana S Lobeiko ◽

Anna P Sokolenko ◽

Aglaya G Iyevleva ◽

Maxim E Rozanov ◽

...

Keyword(s):

Ovarian Cancer ◽

Cancer Patients ◽

Founder Mutation

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The CHEK2 del5395 is a founder mutation without direct effects for cancer risk in the latvian population

Balkan Journal of Medical Genetics ◽

10.1515/bjmg-2015-0083 ◽

2015 ◽

Vol 18 (2) ◽

pp. 33-36 ◽

Cited By ~ 1

Author(s):

J Plonis ◽

D Kalniete ◽

M Nakazawa-Miklasevica ◽

A Irmejs ◽

E Vjaters ◽

...

Keyword(s):

Prostate Cancer ◽

Ovarian Cancer ◽

Cancer Risk ◽

Cancer Patients ◽

Blood Donors ◽

Founder Mutation ◽

Fragment Size ◽

Statistical Significance ◽

Control Groups ◽

Chernobyl Disaster

Abstract Our objective was to determine: 1) whether the checkpoint kinase 2 (CHEK2) del5395 (g.27417113-27422508 del, NC_000022.11) is a founder mutation in the Latvian population, 2) if there is an association between CHEK2 del5395 mutation and cancer risk, and 3) and whether the CHEK2 del5395 mutation impacts cancer predisposition in Chernobyl disaster liquidators (the civil and military personnel who were called upon to deal with consequences of the 1986 nuclear disaster) as well as geriatric populations. We recruited 438 breast cancer patients, 568 colorectal cancer patients, 399 ovarian cancer patients, 419 prostate cancer patients, 526 healthy blood donors, 480 Chernobyl disaster liquidators and 444 geriatric cancer-free participants. DNA samples were isolated from blood samples and subjected to multiplex polymerase chain reaction (PCR). The truncation of del5395 was estimated by fragment size of the multiplex PCR.All groups were compared to the healthy blood donors using Fisher’s exact test. All p values were two-sided and the odds ratios (OR) calculated by two-by-two table. In cancer groups, the del5395 mutation was most frequently observed in the ovarian cancer group (1.00%, OR = 1.32). In control groups, the del5395 mutation was most frequent (0.76%) in the healthy donors, which exceeded its frequency in the Chernobyl liquidators group and the geriatric group by 0.01 and 0.08%, respectively. For all groups, the OR appeared to be >1 only in ovarian cancer patients. However, OR rates showed no statistical significance in either cancer or control groups, with the p value fluctuating within the range of 0.39-1.00. The CHEK2 gene del5395 is a founder mutation in the Latvian population, which, however, does not have a direct impact on genetic predisposition toward colorectal, breast, ovarian and prostate cancer.

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