Table 2.
Symptomatic patients’ characteristics [n = 10]
| Patient | Age at first High-Risk Consultation, years | Marital status, number of children | Smoking habits Comorbidities |
Family history | Cancer type | Tumor staging | Treatments performed | Age at cancer diagnosis, years Timing in relation to surveillance |
Age at molecular diagnosis, years | Altered gene Genetic variant |
Follow-up time, years | Relapse, years from initial diagnosis | Vital status |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A | 63 | Married, 1 |
Non-smoker No comorbidities |
2 sisters with breast cancer (diagnosed at 50 and 65 years old) | Luminal IDC in left breast with vascular invasion and focal nipple ulceration | pT4N0M0 | CT, RT, HT, Mastectomy |
60 Previous |
63 |
BRCA2 c.156_157insAlu in heterozygosity Pathogenic |
8 | No | Alive |
| B | 62 | Married, 2 |
Former smoker No comorbidities |
Paternal grandmother with breast cancer (died at 82 years old) | IDC in left breast | pT1cN1miM0 | CT, RT, HT, Mastectomy |
59 Previous |
61 |
BRCA2 c.608C > A p.(Thr203Asn) in heterozygosity VUS |
6 | No | Alive |
| C | 62 | Married, 4 |
No information No comorbidities |
Absent | Intermediate-grade DCIS in the right breast | pTisN0M0 | Mastectomy |
62 Previous |
63 | 8 | No | Alive | |
| D | 46 | Single, 0 |
Current smoker No comorbidities |
Mother with breast cancer (diagnosed at 33 years old) | Prostate adenocarcinoma Gleason 8 (4 + 4) with perineural invasion and disseminated bone metastasis | T1cNXM1b |
44 Previous |
45 |
BRCA2 c.156_157insAlu in heterozygosity Pathogenic |
Not performed | Dead | ||
| E | 45 | Married, 1 |
Current smoker No comorbidities |
2 brothers with gastric cancer (diagnosed at 23 and 27 years old) | Diffuse gastric cancer | T1N0M0 | Prophylactic total gastrectomy |
34 Previous |
48 |
CDH1 c.1901C > T p.(Ala634Val) in heterozygosity Likely pathogenic |
5 | No | Alive |
| F | 36 | Civil union, 2 |
Current smoker No comorbidities |
Beyond 3rdgrade relatives | Diffuse gastric cancer | pT2N0M0 | Therapeutic gastrectomy |
35 Previous |
33 |
CDH1 c.1901C > T p.(Ala634Val) in heterozygosity Likely pathogenic |
3 | No | Alive |
| G | 64 | Married, 1 |
Non-smoker No comorbidities |
Mother and half-brother with breast cancer (diagnosed respectively at 52 and 57 years old) | Colorectal cancer | Missing |
46 Previous |
64 |
BRCA2 + MSH6 c.156_157insAlu in heterozygosity + MSH6 VUS Pathogenic |
1 | No | Alive | |
| H | 33 | Married, 1 |
Non-smoker Cancer (pheochromocytoma, multiple jejunal GIST) |
Mother with cutaneous neurofibromas (diagnosed at 57 years old) | Pheochromocytoma, multiple GIST in the small bowel | Missing | Adrenalectomy, Jejunal segmental enterectomy |
32 Previous |
33 |
NF1 c.6789_6792del (p.Tyr2264Thrfs*5) in heterozygosity Pathogenic |
Not eligible | Alive | |
| I | 67 | Married, 4 |
Non-smoker Cardiovascular risk factor (arterial hypertension) |
Daughter with breast cancer (diagnosed at 32 years old) | Prostate adenocarcinoma Gleason 9 (4 + 5) with biochemical relapse | pT2N0M0 | Radical prostatectomy, salvation radiation |
67 After |
65 |
BRCA2 c.156_157insAlu in heterozygosity Pathogenic |
12 | Yes, 5 | Alive |
| J | 72 | Married, 1 |
Non-smoker Cardiovascular risk factors (arterial hypertension, dyslipidemia, coronary disease) |
Daughter with breast cancer (diagnosed at 42 years old) | In situ choroidal melanoma in right eye, glioblastoma IDH wild type | Missing | CT, RT, Microsurgical removal of the brain tumor |
77 After |
72 |
BRCA2 c.156_157insAlu in heterozygosity Pathogenic |
6 | No | Dead |
IDC Invasive Ductal Carcinoma, DCIS Ductal Carcinoma in situ, CT Chemotherapy, RT Radiotherapy, HT Hormonotherapy