Penetrance of male breast cancer susceptibility genes: a systematic review

Chamseddine, Reem S.; Wang, Cathy; Yin, Kanhua; Wang, Jin; Singh, Preeti; Zhou, June; Braun, Danielle; Hughes, Kevin S.

doi:10.1007/s10549-021-06413-2

Cited by 13 publications

(11 citation statements)

References 38 publications

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“…In a large prospective cohort, the cumulative risk of breast cancer up to age 80 years was 72% for BRCA1 and 69% for BRCA2 mutation carriers 41 . In addition, BRCA1 and BRCA2 mutation carriers have an increased risk of contralateral breast cancer (40 and 26%, respectively), 41 and germline mutations in BRCA2 are associated with male breast cancer 47,48 …”

Section: Heritable Breast Cancer Riskmentioning

confidence: 99%

“…41 In addition, BRCA1 and BRCA2 mutation carriers have an increased risk of contralateral breast cancer (40 and 26%, respectively), 41 and germline mutations in BRCA2 are associated with male breast cancer. 47,48 Li-Fraumeni syndrome Li-Fraumeni syndrome is an autosomal-dominant syndrome associated with germline mutations in the tumour suppressor gene TP53. 22 protein p53, an important cell cycle regulator.…”

Section: Hereditary Breast and Ovarian Cancer Syndromementioning

confidence: 99%

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Hereditary breast cancer: syndromes, tumour pathology and molecular testing

et al. 2022

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Hereditary factors account for a significant proportion of breast cancer risk. Approximately 20% of hereditary breast cancers are attributable to pathogenic variants in the highly penetrant BRCA1 and BRCA2 genes. A proportion of the genetic risk is also explained by pathogenic variants in other breast cancer susceptibility genes, including ATM, CHEK2, PALB2, RAD51C, RAD51D and BARD1, as well as genes associated with breast cancer predisposition syndromes – TP53 (Li–Fraumeni syndrome), PTEN (Cowden syndrome), CDH1 (hereditary diffuse gastric cancer), STK11 (Peutz–Jeghers syndrome) and NF1 (neurofibromatosis type 1). Polygenic risk, the cumulative risk from carrying multiple low‐penetrance breast cancer susceptibility alleles, is also a well‐recognised contributor to risk. This review provides an overview of the established breast cancer susceptibility genes as well as breast cancer predisposition syndromes, highlights distinct genotype–phenotype correlations associated with germline mutation status and discusses molecular testing and therapeutic implications in the context of hereditary breast cancer.

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Section: Heritable Breast Cancer Riskmentioning

confidence: 99%

Section: Hereditary Breast and Ovarian Cancer Syndromementioning

confidence: 99%

Hereditary breast cancer: syndromes, tumour pathology and molecular testing

et al. 2022

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“…In a study performed on mice and reported by Bahassi [ 11 ], it was found that subjects with CHEK2 *1100delC SNP were predisposed to cancer with a strong gender bias. Furthermore, a recent systematic literature review by Chamseddine [ 12 ] looked at several male breast cancer (MBC) susceptibility genes. Different genes involved have been found, but the risk for individuals who have a pathogenic variant in each of these genes (i.e., penetrance) is not currently known, exactly.…”

Section: Resultsmentioning

confidence: 99%

An Update on the General Features of Breast Cancer in Male Patients—A Literature Review

et al. 2022

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Male breast cancers are uncommon, as men account for less than 1 percent of all breast carcinomas. Among the predisposing risk factors for male breast cancer, the following appear to be significant: (a) breast/chest radiation exposure, (b) estrogen use, diseases associated with hyper-estrogenism, such as cirrhosis or Klinefelter syndrome, and (c) family health history. Furthermore, there are clear familial tendencies, with a higher incidence among men who have a large number of female relatives with breast cancer and (d) major inheritance susceptibility. Moreover, in families with BRCA mutations, there is an increased risk of male breast cancer, although the risk appears to be greater with inherited BRCA2 mutations than with inherited BRCA1 mutations. Due to diagnostic delays, male breast cancer is more likely to present at an advanced stage. A core biopsy or a fine needle aspiration must be performed to confirm suspicious findings. Infiltrating ductal cancer is the most prevalent form of male breast cancer, while invasive lobular carcinoma is extremely uncommon. Male breast cancer is almost always positive for hormone receptors. A worse prognosis is associated with a more advanced stage at diagnosis for men with breast cancer. Randomized controlled trials which recruit both female and male patients should be developed in order to gain more consistent data on the optimal clinical approach.

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“…Previous studies on cancer risk in men with FHBC were mostly focused on male carriers of BRCA1/2 mutations, which are associated with increased risks of breast and ovarian cancer in women 17 . The significantly increased risks of prostate and breast cancer in male BRCA1/2 mutation carriers are well identified 17‐20 ; however, the risk of developing cancer in other sites such as the colon and pancreas was slightly increased in men 17,18 . However, highly penetrant genes are rarely associated with the development of common types of cancer in the general population.…”

Section: Discussionmentioning

confidence: 99%

Increased risk of pancreatic, thyroid, prostate and breast cancers in men with a family history of breast cancer: A population‐based study

Song

Jung

Tran

et al. 2023

Intl Journal of Cancer

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The association between a family history of breast cancer (FHBC) in female first‐degree relatives (FDRs) and cancer risk in men has not been evaluated. This study aimed to compare the risks of overall and site‐specific cancers in men with and without FHBC. A population‐based study was conducted with 3 329 106 men aged ≥40 years who underwent national cancer screening between 2013 and 2014. Men with and without FHBC in their female FDRs were age‐matched in a 1:4 ratio. Men without FHBC were defined as those without a family history of any cancer type in their FDRs. Data from 69 124 men with FHBC and 276 496 men without FHBC were analyzed. The mean follow‐up period was 4.7 ± 0.9 years. Men with an FHBC in any FDR (mother or sister) had a higher risk of pancreatic, thyroid, prostate and breast cancers than those without an FHBC (adjusted hazard ratios [aHRs] (95% confidence interval [CI]): 1.35 (1.07‐1.70), 1.33 (1.12‐1.56), 1.28 (1.13‐1.44) and 3.03 (1.130‐8.17), respectively). Although an FHBC in any one of the FDRs was not associated with overall cancer risk, FHBC in both mother and sibling was a significant risk factor for overall cancer (aHR: 1.69, 95% CI:1.11‐2.57) and increased the risk of thyroid cancer by 3.41‐fold (95% CI: 1.10‐10.61). FHBC in the mother or sister was a significant risk factor for pancreatic, thyroid, prostate and breast cancers in men; therefore, men with FHBC may require more careful BRCA1/2 mutation‐related cancer surveillance.

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Penetrance of male breast cancer susceptibility genes: a systematic review

Cited by 13 publications

References 38 publications

Hereditary breast cancer: syndromes, tumour pathology and molecular testing

Hereditary breast cancer: syndromes, tumour pathology and molecular testing

An Update on the General Features of Breast Cancer in Male Patients—A Literature Review

Increased risk of pancreatic, thyroid, prostate and breast cancers in men with a family history of breast cancer: A population‐based study

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