Table 1 Description of the five breast cancer probands with FANCM homozygous mutations
Proband ID | Nationality | Mutation (frequency)a | Breast cancer | Years of follow-up | Clinical and cancer history and cellular phenotype | ||||
|---|---|---|---|---|---|---|---|---|---|
Age at diagnosis | Tumor typeb | ER/PR/HER2 statusb | |||||||
1 | Italian | c.1972C>T; p.Arg658*; rs368728266 (0.02%) | 29, 41 (ipsilateral) | IDC | − | − | NA | 25 | Breast cancer diagnosis followed by quadrantectomy and radiotherapy. Diagnosis of ipsilateral breast cancer followed by mastectomy and chemotherapy that was interrupted for toxicity. Three HNSCCs, treated with surgery, and endometrial carcinoma and trichilemmoma surgically treated. Chromosome fragility test: not performed due to lack of viable cells. |
2 | German | c.1972C>T; p.Arg658*; rs368728266 (0.02%) | 31 | IDC | + | + | + | 5 | Low AMH levels suggested reduced ovarian reserve (age 31). Breast cancer diagnosis followed by chemotherapy (neoadjuvant) interrupted due to severe pancytopenia. Quadrantectomy followed by radiotherapy, her2/neu-directed and antihormonal therapy. Chromosome fragility test: sensitivity to DNA ICL agents. |
3 | Swedish | c.5101C>T; p.Gln1701*; rs147021911 (0.28%) | 62, 66 (bilateral) | IDC | + | + | + | 7 | Autoimmune disorder (Sjögren syndrome). Breast cancer diagnosis followed by surgery and chemotherapy that was interrupted for pancytopenia. Chromosome fragility test: lack of sensitivity to DNA ICL agents. |
4 | Swedish | c.5101C>T; p.Gln1701*; rs147021911 (0.28%) | 52 | IDC | − | − | + | 3 | Early menopause (age 38). Breast cancer diagnosis followed by quadrantectomy (twice, since the first operation was not radical), chemotherapy and radiation. Chromosome fragility test: not performed due to lack of patient cooperation. |
5 | Spanish | c.5791C>T; p.Arg1931*; rs144567652 (0.19%) | 56 | IDC | − | − | − | 2 | Early menopause (age 30). Breast cancer diagnosis followed by chemotherapy (neoadjuvant) interrupted due to severe pancytopenia. Mastectomy and radiotherapy. Chromosome fragility test: lack of sensitivity to DNA ICL agents (presence of chromosome-type aberrations in not treated cells likely induced by radio/chemotherapy treatments). |
