PALB2 mutation in a woman with bilateral breast cancer: A case report

Nakagomi, Hiroshi; Hirotsu, Yosuke; Okimoto, Kenichiro; Sakamoto, Ikuko; Amemiya, Kenji; Nakagomi, Satoko; Kubota, Takeo; Mochizuki, Hitoshi; Omata, Masao

doi:10.3892/mco.2017.1189

Cited by 6 publications

(6 citation statements)

References 39 publications

(39 reference statements)

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“…Our finding added to the cumulative evidence that PALB2 is involved in the hereditary breast cancer. This is consistent with previous reports from Asia where the PALB2 mutation frequencies were less than 1%, which is comparable with the PALB2 mutation frequency of 0.6%-2.7% reported from the western European families with multiple cases of breast cancer (23)(24)(25).…”

Section: Discussionsupporting

confidence: 93%

The NCCN Criterion “Young Age at Onset” Alone is Not an Indicator of Hereditary Breast Cancer in Iranian Population

Ebrahimi

Sellars

Shirkoohi

et al. 2019

Cancer Prevention Research

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Because the contribution of genetic factors to the burden of breast cancer is not well investigated in Iran, we aimed to examine the prevalence of mutations in breast cancer susceptibility genes, BRCA1/2 and PALB2, and to investigate the predictive potential of hereditary breast cancer risk criteria for genetic testing in Iranian population. Next-generation sequencing was conducted on a population consisting of 299 and 125 patients with breast cancer, with and without hereditary cancer risk criteria for genetic testing, respectively. The pathogenic mutation frequency rate was 10.7% in patients with hereditary cancer criteria versus 1.6% in no criteria group (P ¼ 0.0017). None of the 107 tested patients with only young age at onset (<40) criterion had a pathogenic mutation. Patients who had only a single heritable risk criterion [OR, 6.15; 95% confidence interval (CI), 1.26-58.59; P ¼ 0.009] and patients with multiple heritable risk criteria (OR, 22.5; 95% CI,; P < 0.0001) had higher probabilities of carrying a mutation compared with no criteria group. Our results showed that young age at onset alone is not an indicator of hereditary breast cancer at least in the Iranian population. This is while women with multiple hereditary breast cancer risk criteria were enriched for BRCA1/2 mutations. Given such high risk of identification of a disease-causing mutation, multiple hereditary criteria should be regarded as a strong predictor for a hereditary breast cancer syndrome. These findings are important concerning the optimization of genetic counseling and furthermore establishing criteria for BRCA1/2 testing of the Iranian population.

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Section: Discussionsupporting

confidence: 93%

The NCCN Criterion “Young Age at Onset” Alone is Not an Indicator of Hereditary Breast Cancer in Iranian Population

Ebrahimi

Sellars

Shirkoohi

et al. 2019

Cancer Prevention Research

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“…In our study, no deleterious truncating variant was identified, and the allele counts of the observed missense variants were not statistically different from that in HGVD (Tables and ). Similar results are reported by Hirotsu and Nakagomi et al . They also detected no obvious deleterious truncating variants in Japanese familial breast cancer cases.…”

Section: Discussionsupporting

confidence: 90%

“…(30)(31)(32)(33)(34) In our study, no deleterious truncating variant was identified, and the allele counts of the observed missense variants were not statistically different from that in HGVD (Tables 2 and S2). Similar results are reported by Hirotsu (37) and Nakagomi et al (38,39) They also detected no obvious deleterious truncating variants in Japanese familial breast cancer cases. Although further study is necessary to estimate the relative risk of PALB2 mutations for familial breast cancer incidence by investigating how many patients with breast cancer present with any truncating and deletion mutations in PALB2, our results suggest that PALB2 deleterious mutation was likely to be significantly rare in Japanese cases compared to that in Western countries.…”

Section: Discussionsupporting

confidence: 89%

Mutation status of RAD51C,PALB2 and BRIP1 in 100 Japanese familial breast cancer cases without BRCA1 and BRCA2 mutations

et al. 2017

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In addition to BRCA1 and BRCA2, RAD51C,PALB2 and BRIP1 are known as breast cancer susceptibility genes. However, the mutation status of these genes in Japanese familial breast cancer cases has not yet been evaluated. To this end, we analyzed the exon sequence and genomic rearrangement of RAD51C,PALB2 and BRIP1 in 100 Japanese patients diagnosed with familial breast and ovarian cancer and without BRCA1 and BRCA2 mutations. We detected a large deletion from exons 6 to 9 in RAD51C, 4 novel BRIP1 missense variants containing 3 novel non‐synonymous variants, c.89A>C, c.736A>G and c.2131A>G, and a splice donor site variant c.918+2T>C. No deleterious variant of PALB2 was detected. The results of pedigree analysis showed that the proband with a large deletion on RAD51C had a family history of both breast and ovarian cancer, and the families of probands with novel BRIP1 missense variants included a male patient with breast cancer or many patients with breast cancer within the second‐degree relatives. We showed that the mutation frequency of RAD51C in Japanese familial breast cancer cases was similar to that in Western countries and that the prevalence of deleterious mutation of PALB2 was possibly lower. Furthermore, our results suggested that BRIP1 mutation frequency in Japan might differ from that in Western countries.

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“…43 The PALB2 c.2834+2T>C was recently identified in a Japanese female with bilateral breast cancer. 44…”

Section: Resultsmentioning

confidence: 99%

Pathogenic mutations identified by a multimodality approach in 117 Japanese Fanconi anemia patients

et al. 2019

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Fanconi anemia is a rare recessive disease characterized by multiple congenital abnormalities, progressive bone marrow failure, and a predisposition to malignancies. It results from mutations in one of the 22 known FANC genes. The number of Japanese Fanconi anemia patients with a defined genetic diagnosis was relatively limited. In this study, we reveal the genetic subtyping and the characteristics of mutated FANC genes in Japan and clarify the genotype-phenotype correlations. We studied 117 Japanese patients and successfully subtyped 97% of the cases. FANCA and FANCG pathogenic variants accounted for the disease in 58% and 25% of Fanconi anemia patients, respectively. We identified one FANCA and two FANCG hot spot mutations, which are found at low percentages (0.04-0.1%) in the whole-genome reference panel of 3,554 Japanese individuals (Tohoku Medical Megabank). FANCB was the third most common complementation group and only one FANCC case was identified in our series. Based on the data from the Tohoku Medical Megabank, we estimate that approximately 2.6% of Japanese are carriers of disease-causing FANC gene variants, excluding missense mutations. This is the largest series of subtyped Japanese Fanconi anemia patients to date and the results will be useful for future clinical management.

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PALB2 mutation in a woman with bilateral breast cancer: A case report

Cited by 6 publications

References 39 publications

The NCCN Criterion “Young Age at Onset” Alone is Not an Indicator of Hereditary Breast Cancer in Iranian Population

The NCCN Criterion “Young Age at Onset” Alone is Not an Indicator of Hereditary Breast Cancer in Iranian Population

Mutation status of RAD51C,PALB2 and BRIP1 in 100 Japanese familial breast cancer cases without BRCA1 and BRCA2 mutations

Pathogenic mutations identified by a multimodality approach in 117 Japanese Fanconi anemia patients

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