A common nonsense mutation of the BLM gene and prostate cancer risk and survival

Antczak, Andrzej; Kluźniak, Wojciech; Wokołorczyk, Dominika; Kashyap, Aniruddh; Jakubowska, Anna; Gronwald, Jacek; Huzarski, Tomasz; Byrski, Tomasz; Dębniak, Tadeusz; Masojć, Bartłomiej; Górski, Bohdan; Gromowski, Tomasz; Nagorna, Agnieszka; Gołąb, Adam; Sikorski, Andrzej; Słojewski, Marcin; Gliniewicz, Bartłomiej; Borkowski, Tomasz; Borkowski, Andrzej; Przybyła, Jacek; Sosnowski, Marek; Małkiewicz, Bartosz; Zdrojowy, Romuald; Sikorska-Radek, Paulina; Matych, Józef; Wilkosz, Jacek; Różański, Waldemar; Kiś, Jacek; Bar, Krzysztof; Domagała, Paweł; Stawicka, Małgorzata; Milecki, Piotr; Akbari, Mohammad Reza; Narod, Steven A.; Lubiński, Jan; Cybulski, Cezary; Bryniarski, Piotr; Paradysz, Andrzej; Jersak, Konrad; Niemirowicz, Jerzy; Słupski, Piotr; Jarzemski, Piotr; Skrzypczyk, M.; Dobruch, Jakub; Domagała, W; Chosia, Maria; Wetering, Thierry van de; Serrano-Fernández, Pablo; Puszyński, M.; Soczawa, M.; Świtała, Jerzy; Archimowicz, Sławomir; Kordowski, Mirosław; Życzkowski, Marcin; Borówka, Andrzej; Bagińska, Joanna; Krajka, K; Szwiec, Marek; Haus, Olga; Janiszewska, Hanna; Stembalska, Agnieszka; Sąsiadek, Maria M.

doi:10.1016/j.gene.2013.09.079

Cited by 24 publications

(19 citation statements)

References 26 publications

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“…For BRCA1, CHEK2, NBN, PALB2, BLM and RECQL, as a reference, we used mutation frequencies in controls from our previous studies. [14][15][16]21,26,27 For BARD1 and XRCC2, we used mutation frequencies established in our study in a series of 2036 cancer-free Polish women. ORs were generated from two-by-two tables and statistical significance was assessed with the Fisher exact test or the Chi-squared test where appropriate.…”

Section: Discussionmentioning

confidence: 99%

“…To do so, we compared mutation frequencies in patients with familial breast cancer (cases) to those seen in Polish cancer‐free individuals (controls). For BRCA1 , CHEK2 , NBN , PALB2 , BLM and RECQL , as a reference, we used mutation frequencies in controls from our previous studies . For BARD1 and XRCC2 , we used mutation frequencies established in our study in a series of 2036 cancer‐free Polish women.…”

Section: Methodsmentioning

confidence: 99%

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The spectrum of mutations predisposing to familial breast cancer in Poland

Cybulski

Kluźniak

Huzarski

et al. 2019

Intl Journal of Cancer

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To optimize genetic testing, it is necessary to establish the spectrum of breast cancer‐predisposing mutations in particular ethnic groups. We studied 1,018 women with a strong family history for breast cancer (families with hereditary breast cancer; HBC) from genetically homogenous population of Poland, which is populated by ethnic Slavs, for mutations in 14 cancer susceptibility genes. Additionally, we compared the frequency of candidate pathogenic variants in breast cancer cases and controls. Germline mutations were detected in 512 of 1,018 probands with breast cancer (50.3%), including BRCA1/2 mutations detected in 420 families and non‐BRCA mutations seen in 92 families. Thirteen BRCA1/2 founder mutations represented 84% of all BRCA1/2‐positive cases. Seven founder mutations of CHEK2, PALB2, NBN and RECQL represented 73% of all non‐BRCA‐positive cases. Odds ratios for hereditary breast cancer were 87.6 for BRCA1, 15.4 for PALB2, 7.2 for CHEK2, 2.8 for NBN and 15.8 for RECQL. Odds ratios for XRCC2, BLM and BARD1 were below 1.3. In summary, we found that 20 founder mutations in six genes (BRCA1/2, CHEK2, PALB2, NBN and RECQL) are responsible for 82% of Polish hereditary breast cancer families. A simple test for these 20 mutations will facilitate genetic testing for breast cancer susceptibility in Poland. It may also facilitate genetic testing for breast cancer susceptibility in other Slavic populations and women of Slavic descent worldwide.

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Section: Discussionmentioning

confidence: 99%

Section: Methodsmentioning

confidence: 99%

The spectrum of mutations predisposing to familial breast cancer in Poland

Cybulski

Kluźniak

Huzarski

et al. 2019

Intl Journal of Cancer

Self Cite

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“…p.Gln548X was later found to be the most common pathogenic BLM variant in Slavic populations, with allele frequencies up to 0.6% (Antczak et al. 2013; Sokolenko et al. 2012).…”

Section: Resultsmentioning

confidence: 99%

A rigorous approach for selection of optimal variant sets for carrier screening with demonstration of clinical utility

Perreault‐Micale

Davie

Breton

et al. 2015

Molec Gen & Gen Med

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Carrier screening for certain diseases is recommended by major medical and Ashkenazi Jewish (AJ) societies. Most carrier screening panels test only for common, ethnic-specific variants. However, with formerly isolated ethnic groups becoming increasingly intermixed, this approach is becoming inadequate. Our objective was to develop a rigorous process to curate all variants, for relevant genes, into a database and then apply stringent clinical validity classification criteria to each in order to retain only those with clear evidence for pathogenicity. The resulting variant set, in conjunction with next-generation DNA sequencing (NGS), then affords the capability for an ethnically diverse, comprehensive, highly specific carrier-screening assay. The clinical utility of our approach was demonstrated by screening a pan-ethnic population of 22,864 individuals for Bloom syndrome carrier status using a BLM variant panel comprised of 50 pathogenic variants. In addition to carriers of the common AJ founder variant, we identified 57 carriers of other pathogenic BLM variants. All variants reported had previously been curated and their clinical validity documented, or were of a type that met our stringent, preassigned validity criteria. Thus, it was possible to confidently report an increased number of Bloom’s syndrome carriers compared to traditional, ethnicity-based screening, while not reducing the specificity of the screening due to reporting variants of unknown clinical significance.

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“…With changes in life style, diet and environment, as well as the improved detection level, the incidence of prostate cancer has recently increased (11). The majority of prostate cancer is adenocarcinoma, usually occurring in the peripheral zone of the prostate (12).…”

Section: Discussionmentioning

confidence: 99%

Prostatic adenocarcinoma presenting with metastases to the testis and epididymis: A case report

Zhang

Dong

et al. 2015

Oncology Letters

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Abstract. Few cases of testicular metastases from prostate carcinoma have been reported, and asymptomatic metastases of prostate carcinoma to both the testis and epididymis are extremely rare. The current study presents the case of a 69-yearold male with testicular and epididymal metastases from prostate carcinoma. The patient was admitted to The First Hospital of Shijiazhuang with a 2-year history of lower urinary tract symptoms. Digital rectal examination revealed an enlarged multinodular prostate, and the serum prostate-specific antigen (PSA) level was >100 ng/ml. Magnetic resonance imaging showed prostate carcinoma with seminal vesicle involvement. A prostate biopsy showed prostate gland adenocarcinoma. The Gleason score was 3+3. The immunohistochemistry results were as follows: Prostatic acid phosphatase (+++), PSA (+++), P504s (+++), p63 (-) and cytokeratin 34βE12 (-), with a Ki-67 of ~5%. The patient was treated with a bilateral orchiectomy. The testicular pathology showed that the right testis and epididymis were invaded with metastatic adenocarcinoma. The left testis and epididymis were normal. The patient was treated with conventional flutamide endocrine therapy. At present the patient remains in a stable condition after 24 months of follow-up.

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A common nonsense mutation of the BLM gene and prostate cancer risk and survival

Cited by 24 publications

References 26 publications

The spectrum of mutations predisposing to familial breast cancer in Poland

The spectrum of mutations predisposing to familial breast cancer in Poland

A rigorous approach for selection of optimal variant sets for carrier screening with demonstration of clinical utility

Prostatic adenocarcinoma presenting with metastases to the testis and epididymis: A case report

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