Bergstrom C, Pence C, Berg J, Partain N, Sadeghi N et al (2021) Clinicopathological features and outcomes in individuals with breast cancer and ATM, CHEK2, or PALB2 mutations. Ann Surg Oncol 28(6):3383–3393

Article  PubMed  Google Scholar 

Yoshida R (2021) Hereditary breast and ovarian cancer (HBOC): review of its molecular characteristics, screening, treatment, and prognosis. Breast Cancer 28(6):1167–1180

Article  PubMed  Google Scholar 

Larsen MJ, Thomassen M, Gerdes AM, Kruse TA (2014) Hereditary breast cancer: clinical, pathological and molecular characteristics. Breast Cancer (Auckl) 8:145–155

Article  CAS  PubMed  PubMed Central  Google Scholar 

Paluch-Shimon S, Cardoso F, Sessa C, Balmana J, Cardoso MJ et al (2016) Prevention and screening in BRCA mutation carriers and other breast/ovarian hereditary cancer syndromes: ESMO clinical practice guidelines for cancer prevention and screening. Ann Oncol 27(suppl 5):v103–v110

Article  CAS  PubMed  Google Scholar 

Piombino C, Cortesi L, Lambertini M, Punie K, Grandi G, Toss A (2020) Secondary prevention in hereditary breast and/or ovarian cancer syndromes other than BRCA. J Oncol 2020:6384190

PubMed  Google Scholar 

Breast CAC, Dorling L, Carvalho S, Allen J, González-Neira A, Luccarini C et al (2021) Breast cancer risk genes—association analysis in more than 113,000 women. N Engl J Med 384(5):428–439

Article  Google Scholar 

BRCA Gene Mutations: Cancer Risk and Genetic Testing Fact Sheet (2020, 19 November) National Cancer Institute. https://www.cancer.gov/about-cancer/causes-prevention/genetics/brca-fact-sheet

Tung NM, Boughey JC, Pierce LJ, Robson ME, Bedrosian I et al (2020) Management of hereditary breast cancer: American society of clinical oncology, American society for radiation oncology, and society of surgical oncology guideline. J Clin Oncol 38(18):2080–2106

Article  CAS  PubMed  Google Scholar 

Masciari S, Dillon DA, Rath M, Robson M, Weitzel JN et al (2012) Breast cancer phenotype in women with TP53 germline mutations: a Li-Fraumeni syndrome consortium effort. Breast Cancer Res Treat 133(3):1125–30

Article  CAS  PubMed  PubMed Central  Google Scholar 

Olivier M, Goldgar DE, Sodha N, Ohgaki H, Kleihues P et al (2003) Li-Fraumeni and related syndromes: correlation between tumour type, family structure, and TP53 genotype. Cancer Res 63(20):6643–50

CAS  PubMed  Google Scholar 

Frebourg T, Bajalica Lagercrantz S, Oliveira C, Magenheim R, Evans DG (2020) European Reference Network GENTURIS Guidelines for the Li-Fraumeni and heritable TP53-related cancer syndromes. Eur J Hum Genet 28(10):1379–1386

Article  CAS  PubMed  PubMed Central  Google Scholar 

Zhou J, Wang H, Fu F, Li Z, Feng Q et al (2020) Spectrum of PALB2 germline mutations and characteristics of PALB2-related breast cancer: screening of 16,501 unselected patients with breast cancer and 5890 controls by next-generation sequencing. Cancer 126(14):3202–3208

Article  CAS  PubMed  Google Scholar 

Antoniou AC, Foulkes WD, Tischkowitz M (2014) Breast-cancer risk in families with mutations in PALB2. N Engl J Med 371(17):1651–2

PubMed  Google Scholar 

Heikkinen T, Kärkkäinen H, Aaltonen K, Milne RL, Heikkilä P et al (2009) The breast cancer susceptibility mutation PALB2 1592delT is associated with an aggressive tumour phenotype. Clin Cancer Res 15(9):3214–22

Article  CAS  PubMed  Google Scholar 

Muranen TA, Blomqvist C, Dörk T, Jakubowska A, Heikkilä P et al (2016) Patient survival and tumour characteristics associated with CHEK2:p.I157T—findings from the breast cancer association consortium. Breast Cancer Res 18(1):98

Article  PubMed  PubMed Central  Google Scholar 

Renault AL, Mebirouk N, Fuhrmann L, Bataillon G, Cavaciuti E et al (2018) Morphology and genomic hallmarks of breast tumours developed by ATM deleterious variant carriers. Breast Cancer Res 20(1):28

Article  PubMed  PubMed Central  Google Scholar 

Burstein HJ (2005) The distinctive nature of HER2-positive breast cancers. N Engl J Med 353(16):1652–4

Article  PubMed  Google Scholar 

Foulkes WD, Smith IE, Reis-Filho JS (2010) Triple-negative breast cancer. N Engl J Med 363(20):1938–48

Article  CAS  PubMed  Google Scholar 

National Comprehensive Cancer Network. Clinical practice guidelines in oncology genetic/familial high-risk assessment: breast, ovarian, pancreatic and prostate. Version 2.2025. National Comprehensive Cancer Network; November 7, 2024

Reid S, Roberson ML, Koehler K, Shah T, Weidner A, Whisenant JG, Pal T (2022) Receipt of bilateral mastectomy among women with hereditary breast cancer. JAMA Oncol 9:e225162

Google Scholar 

Peleg Hasson PS, Menes T, Sonnenblick A (2020) Comparison of patient susceptibility genes across breast cancer: implications for prognosis and therapeutic outcomes. Pharmgenomics Pers Med 13:227–238

PubMed  PubMed Central  Google Scholar 

Heymann S, Delaloge S, Rahal A, Caron O, Frebourg T et al (2010) Radio-induced malignancies after breast cancer postoperative radiotherapy in patients with Li-Fraumeni syndrome. Radiat Oncol 5:104

Article  PubMed  PubMed Central  Google Scholar 

Economopoulou P, Dimitriadis G, Psyrri A (2015) Beyond BRCA: new hereditary breast cancer susceptibility genes. Cancer Treat Rev 41(1):1–8

Article  CAS  PubMed  Google Scholar 

Amirifar P, Ranjouri MR, Yazdani R, Abolhassani H, Aghamohammadi A (2019) Ataxia-telangiectasia: a review of clinical features and molecular pathology. Pediatr Allergy Immunol 30(3):277–288

Article  PubMed  Google Scholar 

Bernstein JL, Haile RW, Stovall M, Boice JD Jr, Shore RE et al (2010) WECARE Study Collaborative Group. Radiation exposure, the ATM gene, and contralateral breast cancer in the women’s environmental cancer and radiation epidemiology study. J Natl Cancer Inst 102(7):475–83

Article  CAS  PubMed  PubMed Central  Google Scholar 

Modlin LA, Flynn J, Zhang Z, Cahlon O, Mueller B et al (2021) Tolerability of breast radiotherapy among carriers of ATM germline variants. JCO Precis Oncol 5:PO.20.00334

Su Y, Swift M. (2001) Outcomes of adjuvant radiation therapy for breast cancer in women with ataxia-telangiectasia mutations. JAMA 286(18):2233–4

Article  PubMed  Google Scholar